ΤΙί Θ ΠθυΓΟόθνθΙορΓΠΘΠΐάΙ disorders are a group of conditions with onset in the
developmental period. The disorders typically manifest early in development, often before
the child enters grade school, and are characterized by developmental deficits that
produce impairments of personal, social, academic, or occupational functioning. The
range of developmental deficits varies from very specific limitations of learning or control
of executive functions to global impairments of social skills or intelligence. The neurodevelopmental
disorders frequently co-occur; for example, individuals with autism spectrum
disorder often have intellectual disability (intellectual developmental disorder), and
many children with attention-deficit/hyperactivity disorder (ADHD) also have a specific
learning disorder. For some disorders, the clinical presentation includes symptoms of excess
as well as deficits and delays in achieving expected milestones. For example, autism
spectrum disorder is diagnosed only when the characteristic deficits of social communication
are accompanied by excessively repetitive behaviors, restricted interests, and insistence
on sameness.
Intellectual disability (intellectual developmental disorder) is characterized by deficits
in general mental abilities, such as reasoning, problem solving, planning, abstract thinking,
judgment, academic learning, and learning from experience. The deficits result in impairments
of adaptive functioning, such that the individual fails to meet standards of personal
independence and social responsibility in one or more aspects of daily life, including commimication,
social participation, academic or occupational functioning, and personal independence
at home or in community settings. Global developmental delay, as its name
implies, is diagnosed when an individual fails to meet expected developmental milestones
in several areas of intellectual functioning. The diagnosis is used for individuals who are
imable to undergo systematic assessments of intellectual functioning, including children
who are too young to participate in standardized testing. Intellectual disability may result
from an acquired insult during the developmental period from, for example, a severe head
injury, in which case a neurocognitive disorder also may be diagnosed.
Tlie communication disorders include language disorder, speech sound disorder, social
(pragmatic) communication disorder, and childhood-onset fluency disorder (stuttering).
The first three disorders are characterized by deficits in the development and use of
language, speech, and social communication, respectively. Childhood-onset fluency disorder
is characterized by disturbances of the normal fluency and motor production of
speech, including repetitive sounds or syllables, prolongation of consonants or vowel
sounds, broken words, blocking, or words produced with an excess of physical tension.
Like other neurodevelopmental disorders, communication disorders begin early in life
and may produce lifelong functional impairments.
Autism spectrum disorder is characterized by persistent deficits in social communication
and social interaction across multiple contexts, including deficits in social reciprocity,
nonverbal communicative behaviors used for social interaction, and skills in developing,
maintaining, and understanding relationships. In addition to the social communication
deficits, the diagnosis of autism spectrum disorder requires the presence of restricted, repetitive
patterns of behavior, interests, or activities. Because symptoms change with development
and may be masked by compensatory mechanisms, the diagnostic criteria may
be met based on historical information, although the current presentation must cause significant
impairment.
Within the diagnosis of autism spectrum disorder, individual clinical characteristics
are noted through the use of specifiers (with or without accompanying intellectual impairment;
with or without accompanying structural language impairment; associated with a
known medical/genetic or environmental/acquired condition; associated with another
neurodevelopmental, mental, or behavioral disorder), as well as specifiers that describe
the autistic symptoms (age at first concern; with or without loss of established skills; severity).
These specifiers provide clinicians with an opportunity to individualize the diagnosis
and communicate a richer clinical description of the affected individuals. For example, many
individuals previously diagnosed with Asperger's disorder would now receive a diagnosis
of autism spectrum disorder without language or intellectual impairment.
ADHD is a neurodevelopmental disorder defined by impairing levels of inattention, disorganization,
and/or hyperactivity-impulsivity. Inattention and disorganization entail inability
to stay on task, seeming not to listen, and losing materials, at levels that are inconsistent
with age or developmental level. Hyperactivity-impulsivity entails overactivity, fidgeting, inability
to stay seated, intruding into other people's activities, and inability to wait—symptoms
that are excessive for age or developmental level. In childhood, ADHD frequently overlaps
with disorders that are often considered to be "externalizing disorders," such as oppositional
defiant disorder and conduct disorder. ADHD often persists into adulthood, witii resultant
impairments of social, academic and occupational functioning.
The neurodevelopmental motor disorders include developmental coordination disorder,
stereotypic movement disorder, and tic disorders. Developmental coordination disorder
is characterized by deficits in the acquisition and execution of coordinated motor
skills and is manifested by clumsiness and slowness or inaccuracy of performance of motor
skills that cause interference with activities of daily living. Stereotypic movement disorder
is diagnosed when an individual has repetitive, seemingly driven, and apparently
purposeless motor behaviors, such as hand flapping, body rocking, head banging, selfbiting,
or hitting. The movements interfere with social, academic, or other activities. If the
behaviors cause self-injury, this should be specified as part of the diagnostic description.
Tic disorders are characterized by the presence of motor or vocal tics, which are sudden,
rapid, recurrent, nonrhythmic, sterotyped motor movements or vocalizations. The duration,
presumed etiology, and clinical presentation define the specific tic disorder that is diagnosed:
Tourette's disorder, persistent (chronic) motor or vocal tic disorder, provisional
tic disorder, other specified tic disorder, and unspecified tic disorder. Tourette's disorder
is diagnosed when the individual has multiple motor and vocal tics that have been present
for at least 1 year and that have a waxing-waning symptom course.
Specific learning disorder, as the name implies, is diagnosed when there are specific deficits
in an individual's ability toperceive or process information efficiently and accurately. This
neurodevelopmental disorder first manifests during the years of formal schooling and is
characterized by persistent and impairing difficulties with learning foimdational academic
skills in reading, writing, and/or math. The individual's performance of the affected academic
skills is well below average for age, or acceptable performance levels are achieved only with
extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually
gifted and manifest only when the learning demands or assessment procedures (e.g.,
timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatorystrategies.
For all individuals, specific learningdisordercan produce lifelongimpairments
in activities dependent on the skills, including occupational performance.
The use of specifiers for the neurodevelopmental disorder diagnoses enriches the clinical
description of the individual's clinical course and current symptomatology. In addition
to specifiers that describe the clinical presentation, such as age at onset or severity
ratings, the neurodevelopmental disorders may include the specifier "associated with a
known medical or genetic condition or environmental factor." This specifier gives clini-
cians an opportunity to document factors that may have played a role in the etiology of the
disorder, as v^^ll as those that might affect the clinical course. Examples include genetic
disorders, such as fragile X syndrome, tuberous sclerosis, and Rett syndrome; medical conditions
such as epilepsy; and environmental factors, including very low birth weight and
fetal alcohol exposure (even in the absence of stigmata of fetal alcohol syndrome).
Intellectual Disabilities
Intellectual Disability
(Intellectual Developmental Disorder)
Diagnostic Criteria
Intellectual disability (intellectual developmental disorder) is a disorder with onset during
the developmental period that includes both intellectual and adaptive functioning deficits
in conceptual, social, and practical domains. The following three criteria must be met:
A. Deficits in intellectual functions, such as reasoning, problem solving, planning, abstract
thinking, judgment, academic learning, and learning from experience, confirmed by
both clinical assessment and individualized, standardized intelligence testing.
B. Deficits in adaptive functioning that result in failure to meet developmental and sociocultural
standards for personal independence and social responsibility. Without ongoing
support, the adaptive deficits limit functioning in one or more activities of daily life,
such as communication, social participation, and independent living, across multiple
environments, such as home, school, work, and community.
C. Onset of intellectual and adaptive deficits during the developmental period.
Note: The diagnostic term intellectual disability isthe equivalent term for the ICD-11 diagnosis
of intellectual developmental disorders. Although the term intellectual disability is
used throughout this manual, both terms are used in the title to clarify relationships with
other classification systems. Moreover, a federal statute in the United States (Public Law
111-256, Rosa’s Law) replaces the term mental retardation with intellectual disability, and
research journals use the term intellectual disability. Thus, intellectual disability is the
term in common use by medical, educational, and other professions and by the lay public
and advocacy groups.
Coding note: The ICD-9-CM code for intellectual disability (intellectual developmental
disorder) is319, which isassigned regardless of the severity specifier. The ICD-10-CM code
depends on the severity specifier (see below).
Specify current severity (see Table 1):
(F70) Mild
(F71) lUloderate
(F72) Severe
(F73) Profound
Specifiers
The various levels of severity are defined on the basis of adaptive functioning, and not IQ
scores, because it is adaptive functioning that determines the level of supports required.
Moreover, IQ measures are less valid in the lower end of the IQ range.
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Diagnostic Features
The essential fèatures of intellectual disability (intellectual developmental disorder) are
deficits in general mental abilities (Criterion A) and impairment in everyday adaptive
functioning, in comparison to an individual's age-, gender-, and socioculturally matched
peers (Criterion B). Onset is during the developmental period (Criterion C). The diagnosis
of intellectual disability is based on both clinical assessment and standardized testing of
intellectual and adaptive functions.
Criterion A refers to intellectual functions that involve reasoning, problem solving,
planning, abstract thinking, judgment, learning from instruction and experience, and
practical understanding. Critical components include verbal comprehension, working
memory, perceptual reasoning, quantitative reasoning, abstract thought, and cognitive efficacy.
Intellectual functioning is typically measured with individually administered and
psychometrically valid, comprehensive, culturally appropriate, psychometrically sound
tests of intelligence. Individuals with intellectual disability have scores of approximately
two standard deviations or more below the population mean, including a margin for measurement
error (generally +5 points). On tests with a standard deviation of 15 and a mean
of 100, this involves a score of 65-75 (70 ± 5). Clinical training and judgment are required
to interpret test results and assess intellectual performance.
Factors that may affect test scores include practice effects and the "Flynn effect' (i.e.,
overly high scores due to out-of-date test norms). Invalid scores may result from the use of
brief intelligence screening tests or group tests; highly discrepant individual subtest scores
may make an overall IQ score invalid. Instruments must be normed for the individual's sociocultural
background and native language. Co-occurring disorders that affect communication,
language, and/or motor or sensory function may affect test scores. Individual
cognitive profiles based on neuropsychological testing are more useful for understanding
intellectual abilities than a single IQ score. Such testing may identify areas of relative
strengths and weaknesses, an assessment important for academic and vocational planning.
IQ test scores are approximations of conceptual functioning but may be insufficient to
assess reasoning in real-life situations and mastery of practical tasks. For example, a person
with an IQ score above 70 may have such severe adaptive behavior problems in social
judgment, social understanding, and other areas of adaptive functioning that the person's
actual functioning is comparable to that of individuals with a lower IQ score. Thus, clinical
judgment is needed in interpreting the results of IQ tests.
Deficits in adaptive functioning (Criterion B) refer to how well a person meets community
standards of personal independence and social responsibility, in comparison to others ofsimilar
age and sociocultural background. Adaptive functioning involves adaptive reasoning in
three domains: conceptual, social, and practical. The conceptual (academic) domain involves
competence in memory, language, reading, writing, math reasoning, acquisition of practical
knowledge, problem solving, and judgment in novel situations, among others. The social domain
involves awareness of others' thoughts, feelings, and experiences; empathy; interpersonal
communication skills; friendship abilities; and social judgment, among others. The
practical domain involves learning and self-management across life settings, includingpersonal
care, job responsibilities, money management, recreation, self-management ofbehavior, and
school andwork task organization, among others. Intellectual capacity, education, motivation,
socialization, personality features, vocational opportunity, cultural experience, and coexisting
general medical conditions or mental disorders influence adaptive functioning.
Adaptive functioning is assessed using both clinical evaluation and individualized,
culturally appropriate, psychometrically sound measures. Standardized measures are
used with knowledgeable informants (e.g., parent or other family member; teacher; counselor;
care provider) and the individual to the extent possible. Additional sources of information
include educational, developmental, medical, and mental health evaluations.
Scores from standardized measures and interview sources must be interpreted using clinical
judgment. When standardized testing is difficult or impossible, because of a variety of
factors (e.g., sensory impairment, severe problem behavior), the individual may be diagnosed
with unspecified intellectual disability. Adaptive functioning may be difficult to
assess in a controlled setting (e.g., prisons, detention centers); if possible, corroborative information
reflecting functioning outside those settings should be obtained.
Criterion B is met when at least one domain of adaptive functioning—conceptual, social,
or practical—is sufficiently impaired that ongoing support is needed in order for the
person to perform adequately in one or more life settings at school, at work, at home, or in
the community. To meet diagnostic criteria for intellectual disability, the deficits in adaptive
functioning must be directly related to the intellectual impairments described in Criterion
A. Criterion C, onset during the developmental period, refers to recognition that
intellectual and adaptive deficits are present during childhood or adolescence.
Associated Features Supporting Diagnosis
Intellectual disability is a heterogeneous condition with multiple causes. There may be
associated difficulties with social judgment; assessment of risk; self-management of behavior,
emotions, or interpersonal relationships; or motivation in school or work environments.
Lack of communication skills may predispose to disruptive and aggressive behaviors. Gullibility
is often a feature, involving naiveté in social situations and a tendency for being easily
led by others. Gullibility and lack of awareness of risk may result in exploitation by others
and possible victimization, fraud, unintentional criminal involvement, false confessions,
and risk for physical and sexual abuse. These associated features can be important in criminal
cases, including Atkins-type hearings involving the death penalty.
Individuals with a diagnosis of intellectual disability with co-occurring mental disorders
are at risk for suicide. They think about suicide, make suicide attempts, and may die
from them. Thus, screening for suicidal thoughts is essential in the assessment process. Because
of a lack of awareness of risk and danger, accidental injury rates may be increased.
Prevalence
Intellectual disability has an overall general population prevalence of approximately 1%,
and prevalence rates vary by age. Prevalence for severe intellectual disability is approximately
6 per 1,000.
Deveiopment and Course
Onset of intellectual disability is in the developmental period. The age and characteristic
features at onset depend on the etiology and severity ofbrain dysfunction. Delayed motor,
language, and social milestones may be identifiable within the first 2 years of life among
those with more severe intellectual disability, while mild levels may notbe identifiable until
school age when difficulty with academic learning becomes apparent. All criteria (including
Criterion C) must be fulfilled by history or current presentation. Some children
under age 5 years whose presentation will eventually meet criteria for intellectual disability
have deficits that meet criteria for global developmental delay.
When intellectual disability is associated with a genetic syndrome, there may be a characteristic
physical appearance (as in, e.g.. Down syndrome). Some syndromes have a
behavioral phenotype, which refers to specific behaviors that are characteristic of particular
genetic disorder (e.g., Lesch-Nyhan syndrome). In acquired forms, the onset may be
abrupt following an illness such as meningitis or encephalitis or head trauma occurring
during the developmental period. When intellectual disability results from a loss of previously
acquired cognitive skills, as in severe traumatic brain injury, the diagnoses of intellectual
disability and of a neurocognitive disorder may both be assigned.
Although intellectual disability is generally nonprogressive, in certain genetic disorders
(e.g., Rett syndrome) there are periods of worsening, followed by stabilization, and in
others (e.g., San Phillippo syndrome) progressive worsening of intellectual function. After
early childhood^ the disorder is generally lifelong, although severity levels may change
over time. The course may be influenced by underlying medical or genetic conditions and
co-occurring conditions (e.g., hearing or visual impairments, epilepsy). Early and ongoing interventions
may improve adaptive functioning throughout childhood and adulthood. In
some cases, these result in significant improvement of intellectual functioning, such that
the diagnosis of intellectual disability is no longer appropriate. Thus, it is common practice
when assessing infants and young children to delay diagnosis of intellectual disability until
after an appropriate course of intervention is provided. For older children and adults,
the extent of support provided may allow for full participation in all activities of daily living
and improved adaptive function. Diagnostic assessments must determine whether improved
adaptive skills are the result of a stable, generalized new skill acquisition (in which
case the diagnosis of intellectual disability may no longer be appropriate) or whether the
improvement is contingent on the presence of supports and ongoing interventions (in
which case the diagnosis of intellectual disability may still be appropriate).
Risk and Prognostic Factors
Genetic and physiological. Prenatal etiologies include genetic syndromes (e.g., sequence
variations or copy number variants involving one or more genes; chromosomal
disorders), inborn errors of metabolism, brain malformations, maternal disease (including
placental disease), and environmental influences (e.g., alcohol, other drugs, toxins, teratogens).
Perinatal causes include a variety of labor and delivery-related events leading to
neonatal encephalopathy. Postnatal causes include hypoxic ischemic injury, traumatic
brain injury, infections, demyelinating disorders, seizure disorders (e.g., infantile spasms),
severe and chronic social deprivation, and toxic metabolic syndromes and intoxications
(e.g., lead, mercury).
Culture-Reiated Diagnostic issues
Intellectual disability occurs in all races and cultures. Cultural sensitivity and knowledge
are needed during assessment, and the individual's ethnic, cultural, and linguistic background,
available experiences, and adaptive functioning within his or her community and
cultural setting must be taken into account.
Gender-Reiated Diagnostic issues
Overall, males are more likely than females to be diagnosed with both mild (average
maleifemale ratio 1.6:1) and severe (average male:female ratio 1.2:1) forms of intellectual
disability. However, gender ratios vary widely in reported studies. Sex-linked genetic factors
and male vulnerability to brain insult may accoimt for some of the gender differences.
Diagnostic iVlaricers
A comprehensive evaluation includes an assessment of intellectual capacity and adaptive
functioning; identification of genetic and nongenetic etiologies; evaluation for associated
medical conditions (e.g., cerebral palsy, seizure disorder); and evaluation for co-occurring
mental, emotional, and behavioral disorders. Components of the evaluation may include
basic pre- and perinatal medical history, three-generational family pedigree, physical examination,
genetic evaluation (e.g., karyotype or chromosomal microarray analysis and testing
for specific genetic syndromes), and metabolic screening and neuroimaging assessment.
Differential Diagnosis
The diagnosis of intellectual disability should be made whenever Criteria A, B, and C are
met. A diagnosis of intellectual disability should not be assumed because of a particular
genetic or medical condition. A genetic syndrome linked to intellectual disability should
be noted as a concurrent diagnosis with the intellectual disability.
Major and mild neurocognitive disorders. Intellectual disability is categorized as a neurodevelopmental
disorder and is distinct from the neurocognitive disorders, which are
characterized by a loss of cognitive functioning. Major neurocognitive disorder may cooccur
with intellectual disability (e.g., an individual with Down syndrome who develops
Alzheimer's disease, or an individual with intellectual disability who loses further cognitive
capacity following a head injury). In such cases, the diagnoses of intellectual disability
and neurocognitive disorder may both be given.
Communication disorders and specific learning disorder. These neurodevelopmental
disorders are specific to the communication and learning domains and do not show deficits
in intellectual and adaptive behavior. They may co-occur with intellectual disability.
Both diagnoses are made if full criteria are met for intellectual disability and a communication
disorder or specific learning disorder.
Autism spectrum disorder. Intellectual disability is common among individuals with
autism spectrum disorder. Assessment of intellectual ability may be complicated by social-communication
and behavior deficits inherent to autism spectrum disorder, which
may interfere with understanding and complying with test procedures. Appropriate assessment
of intellectual functioning in autism spectrum disorder is essential, with reassessment
across the developmental period, because IQ scores in autism spectrum disorder
may be unstable, particularly in early childhood.
Comorbidity
Co-occurring mental, neurodevelopmental, medical, and physical conditions are frequent
in intellectual disability, with rates of some conditions (e.g., mental disorders, cerebral
palsy, and epilepsy) three to four times higher than in the general population. The prognosis
and outcome of co-occurring diagnoses may be influenced by the presence of intellectual
disability. Assessment procedures may require modifications because of associated disorders,
including communication disorders, autism spectrum disorder, and motor, sensory,
or other disorders. Knowledgeable informants are essential for identifying symptoms
such as irritability, mood dysregulation, aggression, eating problems, and sleep problems,
and for assessing adaptive functioning in various community settings.
The most common co-occurring mental and neurodevelopmental disorders are attention-deficit/hyperactivity
disorder; depressive and bipolar disorders; anxiety disorders;
autism spectrum disorder; stereotypic movement disorder (with or without self-injurious
behavior); impulse-control disorders; and major neurocognitive disorder. Major depressive
disorder may occur throughout the range of severity of intellectual disability. Selfinjurious
behavior requires prompt diagnostic attention and may warrant a separate diagnosis
of stereotypic movement disorder. Individuals with intellectual disability, particularly
those with more severe intellectual disability, may also exhibit aggression and
disruptive behaviors, including harm of others or property destruction.
Reiationship to Other Classifications
ICD-11 (in development at the time of this publication) uses the term intellectual developmental
disorders to indicate that these are disorders that involve impaired brain functioning
early in life. These disorders are described in ICD-11 as a metasyndrome occurring in the
developmental period analogous to dementia or neurocognitive disorder in later life.
There are four subtypes in ICD-11: mild, moderate, severe, and profound.
The American Association on Intellectual and Developmental Disabilities (AAIDD)
also uses the term intellectual disability with a similar meaning to the term as used in this
manual. The AAIDD's classification is multidimensional rather than categorical and is
based on the disability construct. Rather than listing specifiers as is done in DSM-5, the
AAIDD emphasizes a profile of supports based on severity.
Global Developmental Delay
315.8 (F88)
This diagnosis is reserved for individualsunder the age of 5 years when the clinical severity
level cannot be reliably assessed during early childhood. This category is diagnosed when
an individual fails to meet expected developmental milestones in several areas of intellectual
functioning, and applies to individuals who are unable to undergo systematic assessments
of intellectual functioning, including children who are too young to participate in
standardized testing. This category requires reassessment after a period of time.
Unspecified Intellectual Disability
(Intellectual Developmental Disorder)
319 (F79)
This category is reserved for individuals over the age of 5 years when assessment of the
degree of intellectual disability (intellectual developmental disorder) by means of locally
available procedures is rendered difficult or impossible because of associated sensory or
physical impairments, as in blindness or prelingual deafness; locomotor disability; or presence
of severe problem behaviors or co-occurring mental disorder. This category should
only be used inexceptional circumstances and requires reassessment after a period oftime.
Communication Disorders
Disorders of communication include deficits in language, speech, and communication.
Speech is the expressive production of sounds and includes an individual's articulation,
fluency, voice, and resonance quality. Language includes the form, function, and use of a
conventional system of symbols (i.e., spoken words, sign language, written words, pictures)
in a rule-governed manner for communication. Communication includes any verbal
or nonverbal behavior (whether intentional or unintentional) that influences the behavior,
ideas, or attitudes of another individual. Assessments of speech, language and communication
abilities must take into account the individual’s cultural and language context,
particularly for individuals growing up in bilingual environments. The standardized measures
of language development and of nonverbal intellectual capacity must be relevant for
the cultural and linguistic group (i.e., tests developed and standardized for one group may
not provide appropriate norms for a different group). The diagnostic category of communication
disorders includes the following: language disorder, speech sound disorder,
childhood-onset fluency disorder (stuttering), social (pragmatic) communication disorder,
and other specified and unspecified communication disorders.
Language Disorder
Diagnostic Criteria 315.39 (F80.9)
A. Persistent difficulties in the acquisition and use of language across modalities (i.e.,
spoken, written, sign language, or other) due to deficits in comprehension or production
that include the following:
1. Reduced vocabulary (word knowledge and use).
2. Limited sentence structure (ability to put words and word endings together to form
sentences based on the rules of grammar and morphology).
3. Impairments in discourse (ability to use vocabulary and connect sentences to explain
or describe a topic or series of events or have a conversation).
B. Language abilities are substantially and quantifiably below those expected for age, resulting
in functional limitations in effective communication, social participation, academic
achievement, or occupational performance, individually or in any combination.
C. Onset of symptoms is in the early developmental period.
D. The difficulties are not attributable to hearing or other sensory impairment, motor dysfunction,
or another medical or neurological condition and are not better explained by intellectual
disability (intellectual developmental disorder) or global developmental delay.
Diagnostic Features
The core diagnostic features of language disorder are difficulties in the acquisition and use
of language due to deficits in the comprehension or production of vocabulary, sentence
structure, and discourse. The language deficits are evident in spoken communication,
written communication, or sign language. Language learning and use is dependent on
both receptive and expressive skills. Expressive ability refers to the production of vocal, gestural,
or verbal signals, while receptive ability refers to the process of receiving and comprehending
language messages. Language skills need to be assessed in both expressive
and receptive modalities as these may differ in severity. For example, an individual's expressive
language may be severely impaired, while his receptive language is hardly impaired
at all.
Language disorder usually affects vocabulary and grammar, and these effects then
limit the capacity for discourse. The child's first words and phrases are likely to be delayed
in onset; vocabulary size is smaller and less varied than expected; and sentences are
shorter and less complex with grammatical errors, especially in past tense. Deficits in comprehension
of language are frequently underestimated, as children may be good at using
context to infer meaning. There may be word-finding problems, impoverished verbal definitions,
or poor understanding of synonyms, multiple meanings, or word play appropriate
for age and culture. Problems with remembering new words and sentences are
manifested by difficulties following instructions of increasing length, difficulties rehearsing
strings of verbal information (e.g., remembering a phone number or a shopping list),
and difficulties remembering novel sound sequences, a skill that may be important for
learning new words. Difficulties with discourse are shown by a reduced ability to provide
adequate information about the key events and to narrate a coherent story.
The language difficulty is manifest by abilities substantially and quantifiably below
that expected for age and significantly interfering with academic achievement, occupational
performance, effective communication, or socialization (Criterion B). A diagnosis of
language disorder is made based on the synthesis of the individual's history, direct clinical
observation in different contexts (i.e., home, school, or work), and scores from standardized
tests of language ability that can be used to guide estimates of severity.
Associated Features Supporting Diagnosis
A positive family history of language disorders is often present. Individuals, even children,
can be adept at accommodating to their limited language. They may appear to be shy
or reticent to talk. Affected individuals may prefer to communicate only with family members
or other familiar individuals. Although these social indicators are not diagnostic of a
language disorder, if they are notable and persistent, they warrant referral for a full language
assessment. Language disorder, particularly expressive deficits, may co-occur with
speech sound disorder.
Deveiopment and Course
Language acquisition is marked by changes from onset in toddlerhood to the adult level of
competency that appears during adolescence. Changes appear across the dimensions of
language (sounds, words, grammar, narratives/expository texts, and conversational
skills) in age-graded increments and synchronies. Language disorder emerges during the
early developmental period; however, there is considerable variation in early vocabulary
acquisition and early word combinations, and individual differences are not, as single
indicators, highly predictive of later outcomes. By age 4 years, individual differences in
language ability are more stable, with better measurement accuracy, and are highly predictive
of later outcomes. Language disorder diagnosed from 4 years of age is likely to be
stable over time and typically persists into adulthood, although the particular profile of
language strengths and deficits is likely to change over the course of development.
Risic and Prognostic Factors
Children with receptive language impairments have a poorer prognosis than those with
predominantly expressive impairments. They are more resistant to treatment, and difficulties
with reading comprehension are frequently seen.
Genetic and physiological. Language disorders are highly heritable, and family members
are more likely to have a history of language impairment.
Differentiai Diagnosis
Normal variations in language. Language disorder needs to be distinguished from normal
developmental variations, and this distinction may be difficult to make before 4 years
of age. Regional, social, or cultural/ethnic variations of language (e.g., dialects) must be
considered when an individual is being assessed for language impairment.
Hearing or other sensory impairment. Hearing impairment needs tobe excluded as the
primary cause of language difficulties. Language deficits may be associated with a hearing
impairment, other sensory deficit, or a speech-motor deficit. When language deficits are in
excess of those usually associated with these problems, a diagnosis of language disorder
may be made.
Intellectual disability (intellectual developmental disorder). Language delay is often the
presenting feature of intellectual disability, and the definitive diagnosis may not be made
until the child is able to complete standardized assessments. A separate diagnosis is not
given unless the language deficits are clearly in excess of the intellectual limitations.
Neurological disorders. Language disorder can be acquired in association with neurological
disorders, including epilepsy (e.g., acquired aphasia or Landau-Kleffner syndrome).
Language regression. Loss of speech and language in a child younger than 3 years may
be a sign of autism spectrum disorder (with developmental regression) or a specific neurological
condition, such as Landau-Kleffner syndrome. Among children older than 3 years,
language loss may be a symptom of seizures, and a diagnostic assessment is necessary to
exclude the presence of epilepsy (e.g., routine and sleep electroencephalogram).
Comorbidity
Language disorder is strongly associated with other neurodevelopmental disorders in
terms of specific learning disorder (literacy and numeracy), attention-deficit/hyperactivity
disorder, autism spectrum disorder, and developmental coordination disorder. It is
also associated with social (pragmatic) communication disorder. A positive family history
of speech or language disorders is often present.
Speech Sound Disorder
Diagnostic Criteria 315.39 (F80.0)
A. Persistent difficulty with speech sound production that interferes with speech intelligibility
or prevents verbal communication of messages.
B. The disturbance causes limitations ineffective communication that interfere with social
participation, academic achievement, or occupational performance, individually or in
any combination.
C. Onset of symptoms is in the early developmental period.
D. The difficulties are not attributable to congenital or acquired conditions, such as cerebral
palsy, cleft palate, deafness or hearing loss, traumatic brain injury, or other medical
or neurological conditions.
Diagnostic Features
Speech sound production describes the clear articulation of the phonemes (i.e., individual
sounds) that in combination make up spoken words. Speech sound production requires both
the phonological knowledge of speech sounds and the ability to coordinate the movements of
the articulators (i.e., thejaw, tongue, and lips,) with breathing and vocalizing for speech. Children
with speech production difficulties may experience difficulty with phonological knowledge
of speech sounds or the ability to coordinate movements for speech in varying degrees.
Speech sound disorder is thus heterogeneous inits underlying mechanisms and includes phonological
disorder and articulation disorder. A speech sound disorder is diagnosed when
speech sound production is not what would be expected based on the child's age and developmental
stage and when the deficits are not the result of a physical, structural, neurological,
or hearing impairment. Among typically developing children at age 4 years, overall speech
should be intelligible, whereas at age 2 years, only 50% may be understandable.
Associated Features Supporting Diagnosis
Language disorder, particularly expressive deficits, may be found to co-occur with speech
sound disorder. A positive family history of speech or language disorders is often present.
If the ability to rapidly coordinate the articulators is a particular aspect of difficulty,
there may be a history of delay or incoordination in acquiring skills that also utilize the
articulators and related facial musculature; among others, these skills include chewing,
maintaining mouth closure, and blowing the nose. Other areas of motor coordination may
be impaired as in developmental coordination disorder. Verbal dyspraxia is a term also
used for speech production problems.
Speech may be differentially impaired in certain genetic conditions (e.g.. Down syndrome,
22q deletion, FoxPZ gene mutation). If present, these should also be coded.
Deveiopment and Course
Learning to produce speech sounds clearly and accurately and learning to produce connected
speech fluently are developmental skills. Articulation of speech sounds follows a
developmental pattern, which is reflected in the age norms of standardized tests. It is not
unusual for typically developing children to use developmental processes for shortening
words and syllables as they are learning to talk, but their progression in mastering speech
sound production should result in mostly inteUigible speech by age 3 years. Children with
speech sound disorder continue to use immature phonological simplification processes
past the age when most children can produce words clearly.
Most speech sounds should be produced clearly and most words should be pronounced
accurately according to age and community norms by age 7 years. The most frequently misarticulated
sounds also tend to be learned later, leading them to be called the ''late eight" (/, r,
s, z, th, ch, dzh, and zh). Misarticulation of any of these sounds by itself could be considered
within normal limits up to age 8 years. When multiple sounds are involved, it may be appropriate
to target some of those sounds as part of a plan to improve intelligibilityprior to the age
at which almost all children can produce them accurately. Lisping (i.e., misarticulating sibilants)
is particularly common and may involve frontal or lateral patterns of airstream direction.
It may be associated with an abnormal tongue-thrust swallowing pattern.
Most children with speech sound disorder respond well to treatment, and speech difficulties
improve over time, and thus the disorder may not be lifelong. However, when a
language disorder is also present, the speech disorder has a poorer prognosis and may be
associated with specific learning disorders.
Differential Diagnosis
Normal variations in speech. Regional, social, or cultural/ethnic variations of speech
should be considered before making the diagnosis.
Hearing or other sensory impairment. Hearing impairment or deafness may result in
abnormalities of speech. Deficits of speech sound production may be associated with a
hearing impairment, other sensory deficit, or a speech-motor deficit. When speech deficits
are in excess of those usually associated with these problems, a diagnosis of speech sound
disorder may be made.
Structural deficits. Speech impairment maybe due to structural deficits (e.g., cleft palate).
Dysarthria. Speech impairment may be attributable to a motor disorder, such as cerebral
palsy. Neurological signs, as well as distinctive features of voice, differentiate dysarthria
from speech sound disorder, although in young children (under 3 years) differentiation
may be difficult, particularly when there is no or minimal general body motor involvement
(as in, e.g., Worster-Drought syndrome).
Selective mutism. Limited use of speech may be a sign of selective mutism, an anxiety
disorder that is characterized by a lack of speech in one or more contexts or settings. Selective
mutism may develop in children with a speech disorder because of embarassment
about their impairments, but many children with selective mutism exhibit normal speech
in "safe" settings, such as at home or with close friends.
Childhood-Onset Fluency Disorder (Stuttering)
Diagnostic Criteria 315.35 (F80.81)
A. Disturbances in the normal fluency and time patterning of speech that are inappropriate
for the individual’s age and language skills, persist over time, and are characterized
by frequent and marked occurrences of one (or more) of the following:
1. Sound and syllable repetitions.
2. Sound prolongations of consonants as well as vowels.
3. Broken words (e.g., pauses within a word).
4. Audible or silent blocking (filled or unfilled pauses in speech).
5. Circumlocutions (word substitutions to avoid problematic words).
6. Words produced with an excess of physical tension.
7. Monosyllabic whole-word repetitions (e.g., “I-I-I-I see him”).
B. The disturbance causes anxiety about speaking or limitations in effective communication,
social participation, or academic or occupational performance, individually or in
any combination.
C. The onset of symptoms is in the early developmental period. (Note: Later-onset cases
are diagnosed as 307.0 [F98.5] adult-onset fluency disorder.)
D. The disturbance is not attributable to a speech-motor or sensory deficit, dysfluency associated
with neurological insult (e.g., stroke, tumor, trauma), or another medical condition
and is not better explained by another mental disorder.
Diagnostic Features
The essential feature of childhood-onset fluency disorder (stuttering) is a disturbance in
the normal fluency and time patterning of speech that is inappropriate for the individual's
age. This disturbance is characterized by frequent repetitions or prolongations of sounds
or syllables and by other types of speech dysfluencies, including broken words (e.g.,
pauses within a word), audible or silent blocl^g (i.e., filled or unfilled pauses in speech),
circumlocutions (i.e., word substitutions to avoid problematic words), words produced
with an excess of physical tension, and monosyllabic whole-word repetitions (e.g., 'T-I-I-I
see him"). The disturbance in fluency interferes with academic or occupational achievement
or with social communication. The extent of the disturbance varies from situation to
situation and often is more severe when there is special pressure to communicate (e.g., giving
a report at school, interviewing for ajob). Dysfluency is often absent during oral reading,
singing, or talking to inanimate objects or to pets.
Associated Features Supporting Diagnosis
Fearful anticipation of the problem may develop. The speaker may attempt to avoid dysfluencies
by linguistic mechanisms (e.g., altering the rate of speech, avoiding certain
words or sounds) or by avoiding certain speech situations, such as telephoning or public
speaking. In addition to being features of the condition, stress and anxiety have been
shown to exacerbate dysfluency.
Childhood-onset fluency disorder may also be accompanied by motor movements
(e.g., eye blinks, tics, tremors of the lips or face, jerking of the head, breathing movements,
fist clenching). Children with fluency disorder show a range of language abilities, and the
relationship between fluency disorder and language abilities is unclear.
Deveiopment and Course
Childhood-onset fluency disorder, or developmental stuttering, occurs by age 6 for 80%-
90% of affected individuals, with age at onset ranging from 2 to 7 years. The onset can be
insidious or more sudden. Typically, dysfluencies start gradually, with repetition of initial
consonants, first words of a phrase, or long words. The child may not be aware of dysfluencies.
As the disorder progresses, the dysfluencies become more frequent and interfering,
occurring on the most meaningful words or phrases in the utterance. As the child becomes
aware of the speech difficulty, he or she may develop mechanisms for avoiding the dysfluencies
and emotional responses, including avoidance of public speaking and use of
short and simple utterances. Longitudinal research shows that 65%-85% of children re-
cover from the dysfluency, with severity of fluency disorder at age 8 years predicting recovery
or persisjence into adolescence and beyond.
Risk and Prognostic Factors
Genetic and physiological. The risk of stuttering among first-degree biological relatives
of individuals with childhood-onset fluency disorder is more than three times the
risk in the general population.
Functional Consequences of
Childhood-Onset Fiuency Disorder (Stuttering)
In addition to being features of the condition, stress and anxiety can exacerbate dysfluency.
Impairment of social functioning may result from this anxiety.
Differential Diagnosis
Sensory deficits. Dysfluencies of speech may be associated with a hearing impairment
or other sensory deficit or a speech-motor deficit. When the speech dysfluencies are in excess
of those usually associated with these problems, a diagnosis of childhood-onset fluency
disorder may be made.
Normal speech dysfluencies. The disorder must be distinguished from normal dysfluencies
that occur frequently in young children, which include whole-word or phrase repetitions
(e.g., 'T want, I want ice cream"), incomplete phrases, interjections, unfilled
pauses, and parenthetical remarks. If these difficulties increase in frequency or complexity
as the child grows older, a diagnosis of childhood-onset fluency disorder is appropriate.
Medication side effects. Stuttering may occur as a side effect of medication and may be
detected by a temporal relationship with exposure to the medication.
Adult-onset dysfluencies. If onset of dysfluencies is during or after adolescence, it is an
"adult-onset dysfluency" rather than a neurodevelopmental disorder. Adult-onset dysfluencies
are associated with specific neurological insults and a variety of medical conditions
and mental disorders and may be specified with them, but they are not a DSM-5 diagnosis.
Tourette’s disorder. Vocal tics and repetitive vocalizations of Tourette's disorder
should be distinguishable from the repetitive sounds of childhood-onset fluency disorder
by their nature and timing.
Social (Pragmatic) Communication Disorder
Diagnostic Criteria 315.39 (F80.89)
A. Persistent difficulties in the social use of verbal and nonverbal communication as manifested
by all of the following:
1. Deficits in using communication for social purposes, such as greeting and sharing
information, in a manner that is appropriate for the social context.
2. Impairment of the ability to change communication to match context or the needs of
the listener, such as speaking differently in a classroom than on a playground, talking
differently to a child than to an adult, and avoiding use of overly formal language.
3. Difficulties following rules for conversation and storytelling, such as taking turns in
conversation, rephrasing when misunderstood, and knowing how to use verbal and
nonverbal signals to regulate interaction.
4. Difficulties understanding wliat is not explicitly stated (e.g., making inferences) and
nonliteral or ambiguous meanings of language (e.g., idioms, humor, metaphors,
multiple meanings that depend on the context for interpretation).
B. The deficits result in functional limitations in effective communication, social participation,
social relationships, academic achievement, or occupational performance, individually
or in combination.
C. The onset of the symptoms is in the early developmental period (but deficits may not
become fully manifest until social communication demands exceed limited capacities).
D. The symptoms are not attributable to another medical or neurological condition or to low
abilities in the domains of word structure and grammar, and are not better explained by
autism spectrum disorder, intellectual disability (intellectual developmental disorder),
global developmental delay, or another mental disorder.
Diagnostic Features
Social (pragmatic) communication disorder is characterized by a primary difficulty with
pragmatics, or the social use of language and communication, as manifested by deficits in
understanding and following social rules of verbal and nonverbal communication in naturalistic
contexts, changing language according to the needs of the listener or situation,
and following rules for conversations and storytelling. The deficits in social communication
result in functional limitations in effective communication, social participation, development
of social relationships, academic achievement, or occupational performance. The
deficits are not better explained by low abilities in the domains of structural language or
cognitive abihty.
Associated Features Supporting Diagnosis
The most common associated feature of social (pragmatic) communication disorder is language
impairment, which is characterized by a history of delay in reaching language milestones,
and historical, if not current, structural language problems (see ''Language Disorder"
earlier in this chapter). Individuals with social communication deficits may avoid social interactions.
Attention-deficit/hyperactivity disorder (ADHD), behavioral problems, and specific
learning disorders are also more common among affected individuals.
Development and Course
Because social (pragmatic) communication depends on adequate developmental progress
in speech and language, diagnosis of social (pragmatic) communication disorder is rare
among children younger than 4 years. By age 4 or 5 years, most children should possess
adequate speech and language abilities to permit identification of specific deficits in social
communication. Milder forms of the disorder may not become apparent until early adolescence,
when language and social interactions become more complex.
The outcome of social (pragmatic) communication disorder is variable, with some children
improving substantially over time and others continuing to have difficulties persisting
into adulthood. Even among those who have significant improvements, the early
deficits in pragmatics may cause lasting impairments in social relationships and behavior
and also in acquisition of other related skills, such as written expression.
Risic and Prognostic Factors
Genetic and physiological. A family history of autism spectrum disorder, communication
disorders, or specific learning disorder appears to increase the risk for social (pragmatic)
communication disorder.
Differential Diagnosis
Autism spectrum disorder. Autism spectrum disorder is the primary diagnostic consideration
for individuals presenting with social communication deficits. The two disorders
can be differentiated by the presence in autism spectrum disorder of restricted/
repetitive patterns of behavior, interests, or activities and their absence in social (pragmatic)
communication disorder. Individuals with autism spectrum disorder may only display
the restricted/repetitive patterns ofbehavior, interests, and activities during the early
developmental period, so a comprehensive history should be obtained. Current absence of
symptoms would not preclude a diagnosis of autism spectrum disorder, if the restricted
interests and repetitive behaviors were present in the past. A diagnosis of social (pragmatic)
communication disorder should be considered only if the developmental history
fails to reveal any evidence of restricted/repetitive patterns of behavior, interests, or ac-
tivities.
Attention-deficit/hyperactivity disorder. Primary deficits of ADHD may cause impairments
in social communication and functional limitations of effective communication, social
participation, or academic achievement.
Social anxiety disorder (social phobia). The symptoms of social communication disorder
overlap with those of social anxiety disorder. The differentiating feature is the timing
of the onset of symptoms. In social (pragmatic) communication disorder, the individual
has never had effective social communication; in social anxiety disorder, the social communication
skills developed appropriately but are not utilized because of anxiety, fear, or
distress about social interactions.
Intellectual disability (intellectual developmental disorder) and global developmental
delay. Social communication skills may be deficient among individuals with global developmental
delay or intellectual disability, but a separate diagnosis is not given unless
the social communication deficits are clearly in excess of the intellectual limitations.
Unspecified Communication Disorder
307.9 (F80.9)
This category applies to presentations inwhich symptoms characteristic ofcommunication
disorder that cause clinically significant distress or impairment in social, occupational, or
other important areas of functioning predominate but do not meet the full criteria for communication
disorder or for any of the disorders in the neurodevelopmental disorders diagnostic
class. The unspecified communication disorder category is used in situations in
which the clinician chooses not to specify the reason that the criteria are not met for communication
disorder or for a specific neurodevelopmental disorder, and includes presentations
in which there is insufficient information to make a more specific diagnosis.
Autism Spectrum Disorder
Autism Spectrum Disorder
Diagnostic Criteria 299.00 (F84.0)
A. Persistent deficits in social communication and social interaction across multiple contexts,
as manifested by the following, currently or by history (examples are illustrative,
not exhaustive; see text):
1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social
approach and failure of normal back-and-forth conversation; to reduced sharing of
interests, emotions, or affect; to failure to initiate or respond to social interactions.
2. Deficits in nonverbal communicative behaviors used for social interaction, ranging,
for example, from poorly integrated verbal and nonverbal communication; to abnormalities
in eye contact and body language or deficits in understanding and use of
gestures: to a total lack of facial expressions and nonverbal communication.
3. Deficits in developing, maintaining, and understanding relationships, ranging, for example,
from difficulties adjusting behavior to suit various social contexts; to difficulties
in sharing imaginative play or in making friends; to absence of interest in peers.
Specify current severity:
Severity is based on social communication impairments and restricted, repetitive
patterns of behavior (seeTable 2).
B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at
least two of the following, currently or by history (examples are illustrative, not exhaustive;
see text):
1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple
motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic
phrases).
2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of
verbal or nonverbal behavior (e.g., extreme distress at small changes, difficulties
with transitions, rigid thinking patterns, greeting rituals, need to take same route or
eat same food every day).
3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g.,
strong attachment to or preoccupation with unusual objects, excessively circumscribed
or perseverative interests).
4. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of
the environment (e.g., apparent indifference to pain/temperature, adverse response
to specific sounds or textures, excessive smelling or touching of objects,
visual fascination with lights or movement).
Specify current severity:
Severity is based on social communication impairments and restricted, repetitive
patterns of behavior (see Table 2).
C. Symptoms must be present in the early developmental period (but may not become
fully manifest until social demands exceed limited capacities, or may be masked by
learned strategies in later life).
D. Symptoms cause clinically significant impairment in social, occupational, or other important
areas of current functioning.
E. These disturbances are not better explained by intellectual disability (intellectual developmental
disorder) or global developmental delay. Intellectual disability and autism
spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum
disorder and intellectual disability, social communication should be belowthat expected
for general developmental level.
Note: Individuals with a well-established DSM-IV diagnosis of autistic disorder, Asperger’s
disorder, or pervasive developmental disorder not otherwise specified should be given the
diagnosis of autism spectrum disorder. Individuals who have marked deficits in social
communication, but whose symptoms do not othenwise meet criteria for autism spectrum
disorder, should be evaluated for social (pragmatic) communication disorder.
Specify if;
With or without accompanying inteliectual impairment
With or without accompanying language impairment
Associated with a icnown medicai or genetic condition or environmental factor
(Coding note: Use additional codetoidentifythe associated medical orgeneticcondition.)
Associated with another neurodevelopmental, mental, or behavioral disorder
(Coding note: Use additional code[s] to identify the associated neurodevelopmental,
mental, or behavioral disorder[s].)
With catatonia (refer to the criteria for catatonia associated with another mental disorder,
pp. 119-120, for definition) (Coding note: Use additional code 293.89 [F06.1]
catatonia associated with autism spectrum disorder to indicate the presence of the comorbid
catatonia.)
Recording Procedures
For autism spectrum disorder that is associated with a known medical or genetic condition
or environmental factor, or with another neurodevelopmental, mental, or behavioral disorder,
record autism spectrum disorder associated with (name of condition, disorder, or
factor) (e.g., autism spectrum disorder associated with Rett syndrome). Severity should be
recorded as level of support needed for each of the two psychopathological domains in
Table 2 (e.g., "requiring very substantial support for deficits in social communication and
requiring substantial support for restricted, repetitive behaviors"). Specification of "with
accompanying intellectual impairment" or "without accompanying intellectual impairment"
should be recorded next. Language impairment specification should be recorded
thereafter. If there is accompanying language impairment, the current level of verbal functioning
should be recorded (e.g., "with accompanying language impairment—no intelligible
speech" or "with accompanying language impairment—phrase speech"). If catatonia is
present, record separately "catatonia associated with autism spectrum disorder."
Specifiers
The severity specifiers (see Table 2) may be used to describe succinctly the current symptomatology
(which might fall below level 1), with the recognition that severity may vary by
context and fluctuate over time. Severity of social communication difficulties and restricted,
repetitive behaviors should be separately rated. The descriptive severity categories
should not be used to determine eligibility for and provision of services; these can only be
developed at an individual level and through discussion of personal priorities and targets.
Regarding the specifier "with or without accompanying intellectual impairment," understanding
the (often uneven) intellectual profile of a child or adult with autism spectrum
disorder is necessary for interpreting diagnostic features. Separate estimates of verbal and
nonverbal skill are necessary (e.g., using untimed nonverbal tests to assess potential
strengths in individuals with limited language).
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To use the specifier "with or without accompanying language impairment," the current
level of verbal functioning should be assessed and described. Examples of the specific
descriptions for "with accompanying language impairment" might include no intelligible
speech (nonverbal), single words only, or phrase speech. Language level in individuals
"without accompanying language impairment" might be further described by speaks in
full sentences or has fluent speech. Since receptive language may lag behind expressive
language development in autism spectrum disorder, receptive and expressive language
skills should be considered separately.
The specifier "associated with a known medical or genetic condition or environmental factor"
should be used when the individual has a known genetic disorder (e.g., Rett syndrome.
Fragile X syndrome. Down syndrome), a medical disorder (e.g. epilepsy), or a history of environmental
exposure (e.g., valproate, fetal alcohol syndrome, very low birth weight).
Additional neurodevelopmental, mental orbehavioral conditions should also be noted
(e.g., attention-deficit/hyperactivity disorder; developmental coordination disorder; disruptive
behavior, impulse-control, or conduct disorders; anxiety, depressive, or bipolar
disorders; tics or Tourette's disorder; self-injury; feeding, elimination, or sleep disorders).
Diagnostic Features
The essential features of autism spectrum disorder are persistent impairment in reciprocal
social communication and social interaction (Criterion A), and restricted, repetitive patterns
of behavior, interests, or activities (Criterion B). These symptoms are present from
early childhood and limit or impair everyday functioning (Criteria C and D). The stage at
which functional impairment becomes obvious will vary according to characteristics of
the individual and his or her environment. Core diagnostic features are evident in the
developmental period, but intervention, compensation, and current supports may mask
difficulties in at least some contexts. Manifestations of the disorder also vary greatly depending
on the severity of the autistic condition, developmental level, and chronological age;
hence, the term spectrum. Autism spectrum disorder encompasses disorders previously referred
to as early infantile autism, childhood autism, Kanner's autism, high-functioning
autism, atypical autism, pervasive developmental disorder not otherwise specified, childhood
disintegrative disorder, and Asperger's disorder.
The impairments in communication and social interaction specified in Criterion A are
pervasive and sustained. Diagnoses are most valid and reliable when based on multiple
sources of information, including clinician's observations, caregiver history, and, when
possible, self-report. Verbal and nonverbal deficits in social communication have varying
manifestations, depending on the individual's age, intellectual level, and language ability,
as well as other factors such as treatment history and current support. Many individuals
have language deficits, ranging from complete lack of speech through language delays,
poor comprehension of speech, echoed speech, or stilted and overly literal language. Even
when formal language skills (e.g., vocabulary, grammar) are intact, the use of language for
reciprocal social communication is impaired in autism spectrum disorder.
Deficits in social-emotional reciprocity (i.e., the ability to engage with others and share
thoughts and feelings) are clearly evident in young children with the disorder, who may
show little or no initiation of social interaction and no sharing of emotions, along with reduced
or absent imitation of others' behavior. What language exists is often one-sided,
lacking in social reciprocity, and used to request or label rather than to comment, share
feelings, or converse. In adults without intellectual disabilities or language delays, deficits
in social-emotional reciprocity may be most apparent in difficulties processing and responding
to complex social cues (e.g., when and how to join a conversation, what not to
say). Adults who have developed compensation strategies for some social challenges still
struggle in novel or unsupported situations and suffer from the effort and anxiety of consciously
calculating what is socially intuitive for most individuals.
Deficits in nonverbal communicative behaviors used for social interaction are manifested
by absent, reduced, or atypical use of eye contact (relative to cultural norms), gestures,
facial expressions, body orientation, or speech intonation. An early feature of autism
spectrum disorder is impaired joint attention as manifested by a lack of pointing, showing,
or bringing objects to share interest with others, or failure to follow someone's pointing or
eye gaze. Individuals may learn a few functional gestures, but their repertoire is smaller
than that of others, and they often fail to use expressive gestures spontaneously in communication.
Among adults with fluent language, the difficulty in coordinating nonverbal
communication with speech may give the impression of odd, wooden, or exaggerated
"body language" during interactions. Impairment may be relatively subtle within individual
modes (e.g., someone may have relatively good eye contact when speaking) but
noticeable in poor integration of eye contact, gesture, body posture, prosody, and facial expression
for social communication.
Deficits in developing, maintaining, and understanding relationships should be
judged against norms for age, gender, and culture. There may be absent, reduced, or atypical
social interest, manifested by rejection of others, passivity, or inappropriate approaches
that seem aggressive or disruptive. These difficulties are particularly evident in
young children, in whom there is often a lack of shared social play and imagination (e.g.,
age-appropriate flexible pretend play) and, later, insistence on playing by very fixed rules.
Older individuals may struggle to understand what behavior is considered appropriate in
one situation but not another (e.g., casual behavior during ajob interview), or the different
ways that language may be used to communicate (e.g., irony, white lies). There may be an
apparent preference for solitary activities or for interacting with much younger or older
people. Frequently, there is a desire to establish friendships without a complete or realistic
idea of what friendship entails (e.g., one-sided friendships or friendships based solely on
shared special interests). Relationships with siblings, co-workers, and caregivers are also
important to consider (in terms of reciprocity).
Autism spectrum disorder is also defined by restricted, repetitive patterns ofbehavior,
interests, or activities (as specified in Criterion B), which show a range of manifestations
according to age and ability, intervention, and current supports. Stereotyped or repetitive
behaviors include simple motor stereotypies (e.g., hand flapping, finger flicking), repetitive
use of objects (e.g., spinning coins, lining up toys), and repetitive speech (e.g., echolalia,
the delayed or immediate parroting of heard words; use of "you" when referring to
self; stereotyped use of words, phrases, or prosodic patterns). Excessive adherence to routines
and restricted patterns of behavior may be manifest in resistance to change (e.g., distress
at apparently small changes, such as in packaging of a favorite food; insistence on
adherence to rules; rigidity of thinking) or ritualized patterns of verbal or nonverbal behavior
(e.g., repetitive questioning, pacing a perimeter). Highly restricted, fixated interests
in autism spectrum disorder tend to be abnormal in intensity or focus (e.g., a toddler
strongly attached to a pan; a child preoccupied with vacuum cleaners; an adult spending
hours writing out timetables). Some fascinations and routines may relate to apparent hyper-
or hyporeactivity to sensory input, manifested through extreme responses to specific
sounds or textures, excessive smelling or touching of objects, fascination with lights or
spinning objects, and sometimes apparent indifference to pain, heat, or cold. Extreme reaction
to or rituals involving taste, smell, texture, or appearance of food or excessive food
restrictions are common and may be a presenting feature of autism spectrum disorder.
Many adults with autism spectrum disorder without intellectual or language disabilities
learn to suppress repetitive behavior in public. Special interests may be a source of
pleasure and motivation and provide avenues for education and employment later in life.
Diagnostic criteria may be met when restricted, repetitive patterns of behavior, interests,
or activities were clearly present during childhood or at some time in the past, even if
symptoms are no longer present.
Criterion D requires that the features must cause clinically significant impairment in social,
occupational, or other important areas of current functioning. Criterion E specifies that
the social communication deficits, although sometimes accompanied by intellectual disability
(intellectual developmental disorder), are not in line with the individual's developmental
level; impairments exceed difficulties expected on the basis of developmental level.
Standardized behavioral diagnostic instruments with good psychometric properties,
including caregiver interviews, questionnaires and clinician observation measures, are
available and can improve reliability of diagnosis over time and across clinicians.
Associated Features Supporting Diagnosis
Many individuals with autism spectrum disorder also have intellectual impairment and/or
language impairment (e.g., slow to talk, language comprehension behind production). Even
those with average or high intelligence have an uneven profile of abilities. The gap between
intellectual and adaptive functional skills is often large. Motor deficits are often present, including
odd gait, clumsiness, and other abnormal motor signs (e.g., walking on tiptoes). Selfinjury
(e.g., head banging, biting the wrist) may occur, and disruptive/challenging behaviors
are more common in children and adolescents with autism spectrum disorder than
other disorders, including intellectual disability. Adolescents and adults with autism spectrum
disorder are prone to anxiety and depression. Some individuals develop catatonic-like
motor behavior (slowing and "freezing" mid-action), but these are typically not of the magnitude
of a catatonic episode. However, it is possible for individuals with autism spectrum
disorder to experience a marked deterioration in motor symptoms and display a full catatonic
episode with symptoms such as mutism, posturing, grimacing and waxy flexibility.
The risk period for comorbid catatonia appears to be greatest in the adolescent years.
Prevalence
In recent years, reported frequencies for autism spectrum disorder across U.S. and nonU.S.
countries have approached 1% of the population, with similar estimates in child and
adult samples. It remains unclear whether higher rates reflect an expansion of the diagnostic
criteria of DSM-IV to include subthreshold cases, increased awareness, differences
in study methodology, or a true increase in the frequency of autism spectrum disorder.
Development and Course
The age and pattern of onset also should be noted for autism spectrum disorder. Symptoms
are typically recognized during the second year oflife (12-24 months of age) but maybe seen
earlier than 12 months if developmental delays are severe, or noted later than 24 months if
symptoms are more subtle. The pattern of onset description might include information
about early developmental delays or any losses of social or language skills. In cases where
skills have been lost, parents or caregivers may give a history of a gradual or relatively
rapid deterioration in social behaviors or language skills. Typically, this would occur between
12 and 24 months of age and is distinguished from the rare instances of developmental
regression occurring after at least 2 years of normal development (previously described
as childhood disintegrative disorder).
The behavioral features of autism spectrum disorder first become evident in early
childhood, with some cases presenting a lack of interest in social interaction in the first
year of life. Some children with autism spectrum disorder experience developmental plateaus
or regression, with a gradual or relatively rapid deterioration in social behaviors or
use of language, often during the first 2 years of life. Such losses are rare in other disorders
and may be a useful "red flag" for autism spectrum disorder. Much more unusual
and warranting more extensive medical investigation are losses of skills beyond social
communication (e.g., loss of self-care, toileting, motor skills) or those occurring after the
second birthday (see also Rett syndrome in the section "Differential Diagnosis" for this
disorder).
First symptoms of autism spectrum disorder frequently involve delayed language development,
often accompanied by lack of social interest or unusual social interactions (e.g.,
pulling individuals by the hand without any attempt to look at them), odd play patterns
(e.g., carrying toys around but never playing with them), and unusual communication
patterns (e.g., knowing the alphabet but not responding to own name). Deafness may be
suspected but is typically ruled out. During the second year, odd and repetitive behaviors
and the absence of typical play become more apparent. Since many typically developing
young children have strong preferences and enjoy repetition (e.g., eating the same foods,
watching the same video multiple times), distinguishing restricted and repetitive behaviors
that are diagnostic of autism spectrum disorder can be difficult in preschoolers. The
clinical distinction is based on the type, frequency, and intensity of the behavior (e.g., a
child who daily lines up objects for hours and is very distressed if any item is moved).
Autism spectrum disorder is not a degenerative disorder, and it is typical for learning
and compensation to continue throughout life. Symptoms are often most marked in early
childhood and early school years, with developmental gains typical in later childhood in
at least some areas (e.g., increased interest in social interaction). A small proportion of individuals
deteriorate behaviorally during adolescence, whereas most others improve.
Only a minority of individuals with autism spectrum disorder live and work independently
in adulthood; those who do tend to have superior language and intellectual abilities
and are able to find a niche that matches their special interests and skills. In general, individuals
with lower levels of impairment may be better able to function independently.
However, even these individuals may remain socially naive and vulnerable, have difficulties
organizing practical demands without aid, and are prone to anxiety and depression.
Many adults report using compensation strategies and coping mechanisms to mask their
difficulties in public but suffer from the stress and effort of maintaining a socially acceptable
facade. Scarcely anything is known about old age in autism spectrum disorder.
Some individuals come for first diagnosis in adulthood, perhaps prompted by the diagnosisofautism
inachildin thefamily orabreakdownofrelations atworkorhome. Obtainingdetailed
developmental history in such cases maybe difficult, and itis important toconsider selfreported
difficulties. Where clinical observation suggests criteria are currently met, autism
spectrum disorder may be diagnosed, provided there is no evidence of good social and communication
skills inchildhood. For example, the report (by parents or another relative) that the
individual had ordinary and sustained reciprocal friendships and good nonverbal communication
skills throughout childhood would rule out a diagnosis of autism spectrum disorder;
however, the absence of developmental information in itself should not do so.
Manifestations of the social and communication impairments and restricted/repetitive
behaviors that define autism spectrum disorder are clear in the developmental period.
In later life, intervention or compensation, as well as current supports, may mask these difficulties
in at least some contexts. However, symptoms remain sufficient to cause current
impairment in social, occupational, or other important areas of functioning.
Risk and Prognostic Factors
The best established prognostic factors for individual outcome within autism spectrum
disorder are presence or absence of associated intellectual disability and language impairment
(e.g., functional language by age 5 years is a good prognostic sign) and additional
mental health problems. Epilepsy, as a comorbid diagnosis, is associated with greater intellectual
disability and lower verbal ability.
Environmental. A variety of nonspecific risk factors, such as advanced parental age, low
birth weight, or fetal exposure to valproate, may contribute to risk of aufism spectrum dis-
order.
Genetic and physiological. Heritability estimates for autism spectrum disorder have
ranged from 37°/^to higher than 90%, based on twin concordance rates. Currently, as many
as 15% of cases of autism spectrum disorder appear to be associated with a known genetic
mutation, with different de novo copy number variants or de novo mutations in specific
genes associated with the disorder in different families. However, even when an autism
spectrum disorder is associated with a known genetic mutation, it does not appear to be
fully penetrant. Risk for the remainder of cases appears to be polygenic, with perhaps hundreds
of genetic loci making relatively small contributions.
Culture-Related Diagnostic Issues
Cultural differences will exist in norms for social interaction, nonverbal communication,
and relationships, but individuals with autism spectrum disorder are markedly impaired
against the norms for their cultural context. Cultural and socioeconomic factors may affect
age at recognition or diagnosis; for example, in the United States, late or underdiagnosis of
autism spectrum disorder among African American children may occur.
Gender-Related Diagnostic Issues
Autism spectrum disorder is diagnosed four times more often in males than in females. In
clinic samples, females tend to be more likely to show accompanying intellectual disability,
suggesting that girls without accompanying intellectual impairments or language
delays may go unrecognized, perhaps because of subtler manifestation of social and communication
difficulties.
Functional Consequences of Autism Spectrum Disorder
In young children with autism spectrum disorder, lack of social and communication abilities
may hamper learning, especially learning through social interaction or in settings
with peers. In the home, insistence on routines and aversion to change, as well as sensory
sensitivities, may interfere with eating and sleeping and make routine care (e.g., haircuts,
dental work) extremely difficult. Adaptive skills are typically below measured IQ. Extreme
difficulties in planning, organization, and coping with change negatively impact
academic achievement, even for students with above-average intelligence. During adulthood,
these individuals may have difficulties establishing independence because of continued
rigidity and difficulty with novelty.
Many individuals with autism spectrum disorder, even without intellectual disability,
have poor adult psychosocial functioning as indexed by measures such as independent
living and gainful employment. Functional consequences in old age are unknown, but social
isolation and communication problems (e.g., reduced help-seeking) are likely to have
consequences for health in older adulthood.
Differential Diagnosis
Rett syndrome. Disruption of social interaction may be observed during the regressive
phase of Rett syndrome (typically between 1-4 years of age); thus, a substantial proportion
of affected young girls may have a presentation that meets diagnostic criteria for autism
spectrum disorder. However, after this period, most individuals with Rett syndrome improve
their social communication skills, and autistic features are no longer a major area of
concern. Consequently, autism spectrum disorder should be considered only when all diagnostic
criteria are met.
Selective mutism. In selective mutism, early development is not typically disturbed.
The affected child usually exhibits appropriate communication skills in certain contexts
and settings. Even in settings where the child is mute, social reciprocity is not impaired,
nor are restricted or repetitive patterns of behavior present.
Language disorders and social (pragmatic) communication disorder. In some forms
of language disorder, there may be problems of communication and some secondary social
difficulties. However, specific language disorder is not usually associated with abnormal
nonverbal communication, nor with the presence of restricted, repetitive patterns of
behavior, interests, or activities.
When an individual shows impairment in social communication and social interactions
but does not show restricted and repetitive behavior or interests, criteria for social (pragmatic)
communication disorder, instead of autism spectrum disorder, may be met. The diagnosis
of autism spectrum disorder supersedes that of social (pragmatic) communication
disorder whenever the criteria for autism spectrum disorder are met, and care should be
taken to enquire carefully regarding past or current restricted/repetitive behavior.
Intellectual disability (intellectual developmental disorder) without autism spectrum
disorder. Intellectual disability without autism spectrum disorder may be difficult to
differentiate from autism spectrum disorder in very young children. Individuals with intellectual
disability who have not developed language or symbolic skills also present a
challenge for differential diagnosis, since repetitive behavior often occurs in such individuals
as well. A diagnosis of autism spectrum disorder in an individual with intellectual
disability is appropriate when social communication and interaction are significantly impaired
relative to the developmental level of the individual's nonverbal skills (e.g., fine
motor skills, nonverbal problem solving). In contrast, intellectual disability is the appropriate
diagnosis when there is no apparent discrepancy between the level of social-communicative
skills and other intellectual skills.
Stereotypic movement disorder. Motor stereotypies are among the diagnostic characteristics
of autism spectrum disorder, so an additional diagnosis of stereotypic movement
disorder is not given when such repetitive behaviors are better explained by the presence
of autism spectrum disorder. However, when stereotypies cause self-injury and become a
focus of treatment, both diagnoses may be appropriate.
Attention-deficit/hyperactivity disorder. Abnormalities of attention (overly focused or
easily distracted) are common in individuals with autism spectrum disorder, as is hyperactivity.
A diagnosis of attention-deficit/hyperactivity disorder (ADHD) should be
considered when attentional difficulties or hyperactivity exceeds that typically seen in individuals
of comparable mental age.
Schizophrenia. Schizophrenia with childhood onset usually develops after a period of
normal, or near normal, development. A prodromal state has been described in which social
impairment and atypical interests and beliefs occur, which could be confused with the
social deficits seen in autism spectrum disorder. Hallucinations and delusions, which are
defining features of schizophrenia, are not features of autism spectrum disorder. However,
clinicians must take into account the potential for individuals with autism spectrum
disorder to be concrete in their interpretation of questions regarding the key features of
schizophrenia (e.g., "Do you hear voices when no one is there?" "Yes [on the radio]").
Comorbidity
Autism spectrum disorder is frequently associated with intellectual impairment and structural
language disorder (i.e., an inability tocomprehend and construct sentences with proper
grammar), which should be noted under the relevant specifiers when applicable. Many individuals
with autism spectrum disorderhave psychiatric symptoms that donot formpart of
the diagnostic criteria for the disorder (about 70% of individuals with autism spectrum disorder
may have one comorbid mental disorder, and 40% may have two or more comorbid
mental disorders). When criteria forboth ADHD and autism spectrum disorder are met, both
diagnoses should be given. This same principle applies to concurrent diagnoses of autism
spectrum disorder and developmental coordination disorder, anxiety disorders, depressive
disorders, and other comorbid diagnoses. Among individuals who are nonverbal or have
language deficits, observable signs such as changes in sleep or eating and increases in challengingbehavior
should triggeran evaluation for anxiety or depression. Specific learning difficulties
(literacy and numeracy) are common, as is developmental coordination disorder.
Medical conditions commonly associated with autism spectrum disorder should be noted
under the "associated with aknown medical/genetic or environmental/acquired condition"
specifier. Such medical conditions include epilepsy, sleep problems, and constipation.
Avoidant-restrictive food intake disorder is a fairly frequent presenting feature of autism
spectrum disorder, and extreme and narrow food preferences may persist.
Attention-Deficit/Hyperactivity
Disorder
Attention-Deficit/Hyperactivity Disorder
Diagnostic Criteria
A. A persistent pattern of inattention and/or hyperactivity-impulsivity that interferes with
functioning or development, as characterized by (1) and/or (2):
1. Inattention: Six (or more) of the following symptoms have persisted for at least
6 months to a degree that is inconsistent with developmental level and that negatively
impacts directly on social and academic/occupational activities:
Note: The symptoms are not solely a manifestation of oppositional behavior, defiance,
hostility, or failure to understand tasks or instructions. For older adolescents
and adults (age 17 and older), at least five symptoms are required.
a. Often fails to give close attention to details or makes careless mistakes in
schoolwork, at work, or during other activities (e.g., overlooks or misses details,
work is inaccurate).
b. Often has difficulty sustaining attention in tasks or play activities (e.g., has difficulty
remaining focused during lectures, conversations, or lengthy reading).
c. Often does not seem to listen when spoken to directly (e.g., mind seems elsewhere,
even inthe absence of any obvious distraction).
d. Often does not follow through on instructions and fails to finish schoolwork,
chores, or duties in the workplace (e.g., starts tasks but quickly loses focus and
is easily sidetracked).
e. Often has difficulty organizing tasks and activities (e.g., difficulty managing sequential
tasks; difficulty keeping materials and belongings in order; messy, disorganized
work; has poor time management; fails to meet deadlines).
f. Often avoids, dislikes, or is reluctant to engage in tasks that require sustained
mental effort (e.g., schoolwork or homework; for older adolescents and adults,
preparing reports, completing forms, reviewing lengthy papers).
g. Often loses things necessary for tasks or activities (e.g., school materials, pencils,
books, tools, wallets, keys, papenwork, eyeglasses, mobile telephones).
h. Is often easily distracted by extraneous stimuli (for older adolescents and
adults, may include unrelated thoughts).
i. Is often forgetful in daily activities (e.g., doing chores, running errands; for older
adolescents and adults, returning calls, paying bills, keeping appointments).
2. Hyperactivity and impuisivity: Six (or more) of the following symptoms have persisted
for at least 6 months to a degree that is inconsistent with developmental level
and that negatively impacts directly on social and academic/occupational activities:
Note: The symptoms are not solely a manifestation of oppositional behavior, defiance,
hostility, or a failure to understand tasks or instructions. For older adolescents
and adults (age 17 and older), at least five symptoms are required.
a. Often fidgets with or taps hands or feet or squirms in seat.
b. Often leaves seat in situations when remaining seated is expected (e.g., leaves
his or her place in the classroom, in the office or other workplace, or in other
situations that require remaining in place).
c. Often runs about or climbs in situations where it is inappropriate. (Note: In adolescents
or adults, may be limited to feeling restless.)
d. Often unable to play or engage in leisure activities quietly.
e. Is often “on the go,”acting as if “driven by a motor” (e.g., is unable to be or uncomfortable
being still for extended time, as in restaurants, meetings; may be
experienced by others as being restless or difficult to keep up with).
f. Often talks excessively.
g. Often blurts out an answer before a question has been completed (e.g., completes
people’s sentences; cannot wait for turn in conversation).
h. Often has difficulty waiting his or her turn (e.g., while waiting in line).
i. Often interrupts or intrudes on others (e.g., butts into conversations, games, or
activities; may start using other people’s things without asking or receiving permission;
for adolescents and adults, may intrude into or take over what others
are doing).
B. Several inattentive or hyperactive-impulsive symptoms were present prior to age
12 years.
C. Several inattentive or hyperactive-impulsive symptoms are present intwo or more settings
(e.g., at home, school, or work; with friends or relatives; in other activities).
D. There is clear evidence that the symptoms interfere with, or reduce the quality of, social,
academic, or occupational functioning.
E. The symptoms do not occur exclusively during the course of schizophrenia or another
psychotic disorder and are not better explained by another mental disorder (e.g., mood
disorder, anxiety disorder, dissociative disorder, personality disorder, substance intoxication
or withdrawal).
Specify whether:
314.01 (F90.2) Combined presentation: If both Criterion A1 (inattention) and Criterion
A2 (hyperactivity-impulsivity) are met for the past 6 months.
314.00 (F90.0) Predominantly inattentive presentation: If Criterion A1 (inattention)
is met but Criterion A2 (hyperactivity-impulsivity) is not met for the past 6 months.
314.01 (F90.1) Predominantly hyperactive/impulsive presentation: If Criterion A2 (hyperactivity-impulsivity)
ismet and Criterion A1 (inattention) isnot metforthe past6 months.
Specify if:
in partial remission: When full criteria were previously met, fewer than the full criteria
have been met for the past 6 months, and the symptoms still result in impairment in
social, academic, or occupational functioning.
Specify current severity:
lUlild: Few, if any, symptoms in excess of those required to make the diagnosis are
present, and symptoms result in no more than minor impairments in social or occupational
functioning.
Moderate: Symptoms orfunctional impairment between “mild”and “severe”are present.
Severe: Many symptoms inexcess of tliose required to mal<etlie diagnosis, or several
symptoms that are particularly severe, are present, or the symptoms result in marked
impairment in social or occupational functioning.
Diagnostic Features
The essential feature of attention-deficit/hyperactivity disorder (ADHD) is a persistent
pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or
development. Inattention manifests behaviorally in ADHD as wandering off task, lacking
persistence, having difficulty sustaining focus, and being disorganized and is not due to
defiance or lack of comprehension. Hyperactivity refers to excessive motor activity (such as
a child running about) when it is not appropriate, or excessive fidgeting, tapping, or talkativeness.
In adults, hyperactivity may manifest as extreme restlessness or wearing others
out with their activity. Impulsivity refers to hasty actions that occur in the moment without
forethought and that have high potential for harm to the individual (e.g., darting into the
street without looking). Impulsivity may reflect a desire for immediate rewards or an inability
to delay gratification. Impulsive behaviors may manifest as social intrusiveness
(e.g., interrupting others excessively) and/or as making important decisions without consideration
of long-term consequences (e.g., taking a job without adequate information).
ADHD begins in childhood. The requirement that several symptoms be present before
age 12 years conveys the importance of a substantial clinical presentation during childhood.
At the same time, an earlier age at onset is not specified because of difficulties in establishing
precise childhood onset retrospectively. Adult recall of childhood symptoms
tends to be unreliable, and it is beneficial to obtain ancillary information.
Manifestations of the disorder mustbe present in more than one setting (e.g., home and
school, work). Confirmation of substantial symptoms across settings typically cannot be
done accurately without consulting informants who have seen the individual in those settings.
Typically, symptoms vary depending on context within a given setting. Signs of the
disorder may be minimal or absent when the individual is receiving frequent rewards for
appropriate behavior, is under close supervision, is in a novel setting, is engaged in especially
interesting activities, has consistent external stimulation (e.g., via electronic screens),
or is interacting in one-on-one situations (e.g., the clinician's office).
Associated Features Supporting Diagnosis
Mild delays in language, motor, or social development are not specific to ADHDbut often cooccur.
Associated features may include low frustration tolerance, irritability, or mood lability.
Even in the absence of a specific learning disorder, academic orwork performance is often impaired.
Inattentive behavior is associated with various underlying cognitive processes, and individuals
with ADHD may exhibit cognitive problems on tests of attention, executive
function, or memory, although these tests arenot sufficiently sensitiveor specific toserve as diagnostic
indices. By early adulthood, ADHD is associated with an increased risk of suicide attempt,
primarily when comorbid with mood, conduct, or substance use disorders.
No biological marker is diagnostic for ADHD. As a group, compared with peers, children
with ADHD display increased slow wave electroencephalograms, reduced total
brain volume on magnetic resonance imaging, and possibly a delay in posterior to anterior
cortical maturation, but these findings are not diagnostic. In the uncommon cases where
there is a known genetic cause (e.g.. Fragile X syndrome, 22qll deletion syndrome), the
ADHD presentation should still be diagnosed.
Prevalence
Population surveys suggest that ADHD occurs in most cultures in about 5% of children
and about 2.5% of adults.
Development and Course
Many parents first observe excessive motor activity when the child is a toddler, but symptoms
are difficult to distinguish from highly variable normative behaviors before age 4
years. ADHD is most often identified during elementary school years, and inattention becomes
more prominent and impairing. The disorder is relatively stable through early adolescence,
but some individuals have a worsened course with development of antisocial
behaviors. In most individuals with ADHD, symptoms of motoric hyperactivity become
less obvious in adolescence and adulthood, but difficulties with restlessness, inattention,
poor planning, and impulsivity persist. A substantial proportion of children with ADHD
remain relatively impaired into adulthood.
In preschool, the main manifestation is hyperactivity. Inattention becomes more prominent
during elementary school. During adolescence, signs of hyperactivity (e.g., running
and climbing) are less common and may be confined to fidgetiness or an inner feeling of
jitteriness, restlessness, or impatience. In adulthood, along with inattention and restlessness,
impulsivity may remain problematic even when hyperactivity has diminished.
Risk and Prognostic Factors
Temperamental. ADHD is associated with reduced behavioral inhibition, effortful control,
or constraint; negative emotionality; and/or elevated novelty seeking. These traits
may predispose some children to ADHD but are not specific to the disorder.
Environmental. Very low birth weight (less than 1,500 grams) conveys a two- to threefold
risk for ADHD, but most children with low birth weight do not develop ADHD. Although
ADHD is correlated with smoking during pregnancy, some of this association
reflects common genetic risk. A minority of cases may be related to reactions to aspects of
diet. There may be a history of child abuse, neglect, multiple foster placements, neurotoxin
exposure (e.g., lead), infections (e.g., encephalitis), or alcohol exposure in utero. Exposure
to environmental toxicants has been correlated with subsequent ADHD, but it is not
known whether these associations are causal.
Genetic and physiological. ADHD is elevated in the first-degree biological relatives of
individuals with ADHD. The heritability of ADHD is substantial. While specific genes
have been correlated with ADHD, they are neither necessary nor sufficient causal factors.
Visual and hearing impairments, metabolic abnormalities, sleep disorders, nutritional deficiencies,
and epilepsy should be considered as possible influences on ADHD symptoms.
ADHD is not associated with specific physical features, although rates of minor physical
anomalies (e.g., hypertelorism, highly arched palate, low-set ears) may be relatively
elevated. Subtle motor delays and other neurological soft signs may occur. (Note that
marked co-occurring clumsiness and motor delays should be coded separately [e.g., developmental
coordination disorder].)
Course modifiers. Family interaction patterns in early childhood are unlikely to cause
ADHD but may influence its course or contribute to secondary development of conduct
problems.
Cuiture-Reiated Diagnostic Issues
Differences in ADHD prevalence rates across regions appear attributable mainly to different
diagnostic and methodological practices. However, there also may be cultural variation
in attitudes toward or interpretations of children's behaviors. Clinical identification
rates in the United States for African American and Latino populations tend to be lower
than for Caucasian populations. Informant symptom ratings may be influenced by cultural
group of the child and the informant, suggeshng that culturally appropriate practices
are relevant in assessing ADHD.
Gender-Related Diagnostic Issues
ADHD is more frequent in males than in females in the general population, with a ratio of
approximately 2:1 in children and 1.6:1 in adults. Females are more likely than males to
present primarily with inattentive features.
Functional Consequences of
Attention-Deficit/Hyperactivity Disorder
ADHD is associated with reduced school performance and academic attainment, social rejection,
and, in adults, poorer occupational performance, attainment, attendance, and
higher probability of unemployment as well as elevated interpersonal conflict. Children
with ADHD are significantly more likely than their peers without ADHD to develop conduct
disorder in adolescence and antisocial personality disorder in adulthood, consequently
increasing the likelihood for substance use disorders and incarceration. The risk of
subsequent substance use disorders is elevated, especially when conduct disorder or antisocial
personality disorder develops. Individuals with ADHD are more likely than peers
to be injured. Traffic accidents and violations are more frequent in drivers with ADHD.
There may be an elevated likelihood of obesity among individuals with ADHD.
Inadequate or variable self-application to tasks that require sustained effort is often interpreted
by others as laziness, irresponsibility, or failure to cooperate. Family relationships
may be characterized by discord and negative interactions. Peer relationships afe
often disrupted by peer rejection, neglect, or teasing of the individual with ADHD. On average,
individuals with ADHD obtain less schooling, have poorer vocational achievement,
and have reduced intellectual scores than their peers, although there is great variability. In
its severe form, the disorder is markedly impairing, affecting social, familial, and scholastic/occupational
adjustment.
Academic deficits, school-related problems, and peer neglect tend to be most associated
with elevated symptoms of inattention, whereas peer rejection and, to a lesser extent,
accidental injury are most salient with marked symptoms of hyperactivity or impulsivity.
Differential Diagnosis
Oppositional defiant disorder. Individuals with oppositional defiant disorder may resist
work or school tasks that require self-application because they resist conforming to
others' demands. Their behavior is characterized by negativity, hostility, and defiance.
These symptoms must be differentiated from aversion to school or mentally demanding
tasks due to difficulty in sustaining mental effort, forgetting instructions, and impulsivity
in individuals with ADHD. Complicating the differential diagnosis is the fact that some
individuals with ADHD may develop secondary oppositional attitudes toward such tasks
and devalue their importance.
Intermittent explosive disorder. ADHD and intermittent explosive disorder share high
levels of impulsive behavior. However, individuals with intermittent explosive disorder
show serious aggression toward others, which is not characteristic of ADHD, and they do
not experience problems with sustaining attention as seen in ADHD. In addition, intermittent
explosive disorder is rare in childhood. Intermittent explosive disorder may be diagnosed
in the presence of ADHD.
Other neurodevelopmental disorders. The increased motoric activity that may occur in
ADHD must be distinguished from the repetitive motor behavior that characterizes stereotypic
movement disorder and some cases of autism spectrum disorder. In stereotypic
movement disorder, the motoric behavior is generally fixed and repetitive (e.g., body rocking,
self-biting), whereas the fidgetiness and restlessness in ADHD are typically generalized
and not characterized by repetitive stereotypic movements. In Tourette's disorder,
frequent multiple tics can be mistaken for the generalized fidgetiness of ADHD. Prolonged
observation may be needed to differentiate fidgetiness from bouts of multiple tics.
Specific learning disorder. Children with specific learning disorder may appear inattentive
because of frustration, lack of interest, or limited ability. However, inattention in
individuals with a specific learning disorder who do not have ADHD is not impairing outside
of academic work.
Intellectual disability (intellectual developmental disorder). Symptoms of ADHD are
common among children placed in academic settings that are inappropriate to their intellectual
ability. In such cases, the symptoms are not evident during non-academic tasks. A
diagnosis of ADHD in intellectual disability requires that inattention or hyperactivity be
excessive for mental age.
Autism spectrum disorder. Individuals with ADHD and those with autism spectrum
disorder exhibit inattention, social dysfunction, and difficult-to-manage behavior. The social
dysfunction and peer rejection seen in individuals with ADHD must be distinguished
from the social disengagement, isolation, and indifference to facial and tonal communication
cues seen in individuals with autism spectrum disorder. Children with autism spectrum
disorder may display tantrums because of an inability to tolerate a change from their
expected course of events. In contrast, children with ADHD may misbehave or have a tantrum
during a major transition because of impulsivity or poor self-control.
Reactive attachment disorder. Children with reactive attachment disorder may show
social disinhibition, but not the full ADHD symptom cluster, and display other features
such as a lack of enduring relationships that are not characteristic of ADHD.
Anxiety disorders. ADHD shares symptoms of inattention with anxiety disorders. Individuals
with ADHD are inattentive because of their attraction to external stimuli, new
activities, or preoccupation with enjoyable activities. This is distinguished from the inattention
due to worry and rumination seen in anxiety disorders. Restlessness might be seen
in anxiety disorders. However, in ADHD, the symptom is not associated with worry and
rumination.
Depressive disorders. Individuals with depressive disorders may present with inability
to concentrate. However, poor concentration in mood disorders becomes prominent
only during a depressive episode.
Bipolar disorder. Individuals with bipolar disorder may have increased activity, poor
concentration, and increased impulsivity, but these features are episodic, occurring several
days at a time. In bipolar disorder, increased impulsivity or inattention is accompanied
by elevated mood, grandiosity, and other specific bipolar features. Children with
ADHD may show significant changes in mood within the same day; such lability is distinct
from a manic episode, which must last 4 or more days to be a clinical indicator of bipolar
disorder, even in children. Bipolar disorder is rare in preadolescents, even when
severe irritability and anger are prominent, whereas ADHD is common among children
and adolescents who display excessive anger and irritability.
Disruptive mood dysregulation disorder. Disruptive mood dysregulation disorder is
characterized by pervasive irritability, and intolerance of frustration, but impulsiveness
and disorganized attenhon are not essential features. However, most children and adolescents
with the disorder have symptoms that also meet criteria for ADHD, which is diagnosed
separately.
Substance use disorders. Differentiating ADHD from substance use disorders may be
problematic if the first presentation of ADHD symptoms follows the onset of abuse or frequent
use. Clear evidence of ADHD before substance misuse from informants or previous
records may be essential for differential diagnosis.
Personality disorders. In adolescents and adults, it may be difficult to distinguish ADHD
from borderline, narcissistic, and other personality disorders. All these disorders tend to
share the features of disorganization, social intrusiveness, emotional dysregulation, and
cognitive dysregulation. However, ADHD is not characterized by fear of abandonment,
self-injury, extreme ambivalence, or other features of personality disorder. It may take
extended clinical observation, informant interview, or detailed history to distinguish impulsive,
socially intrusive, or inappropriate behavior from narcissistic, aggressive, or domineering
behavior to make this differential diagnosis.
Psychotic disorders. ADHD is not diagnosed if the symptoms of inattention and hyperactivity
occur exclusively during the course of a psychotic disorder.
Medication-induced symptoms of ADHD. Symptoms of inattention, hyperactivity, or
impulsivity attributable to the use of medication (e.g., bronchodilators, isoniazid, neuroleptics
[resulting in akathisia], thyroid replacement medication) are diagnosed as other
specified or unspecified other (or unknown) substance-related disorders.
Neurocognitive disorders. Early major neurocognitive disorder (dementia) and/or
mild neurocognitive disorder are not known to be associated with ADHD but may present
with similar clinical features. These conditions are distinguished from ADHD by their late
onset.
Comorbidity
In clinical settings, comorbid disorders are frequent in individuals whose symptoms meet
criteria for ADHD. In the general population, oppositional defiant disorder co-occurs with
ADHD in approximately half of children with the combined presentation and about a
quarter with the predominantly inattentive presentation. Conduct disorder co-occurs in
about a quarter of children or adolescents with the combined presentation, depending on
age and setting. Most children and adolescents with disruptive mood dysregulation disorder
have symptoms that also meet criteria for ADHD; a lesser percentage of children
with ADHD have symptoms that meet criteria for disruptive mood dysregulation disorder.
Specific learning disorder commonly co-occurs with ADHD. Anxiety disorders and
major depressive disorder occur in a minority of individuals with ADHD but more often
than in the general population. Intermittent explosive disorder occurs in a minority of
adults with ADHD, but at rates above population levels. Although substance use disorders
are relatively more frequent among adults with ADHD in the general population, the
disorders are present in only a minority of adults with ADHD. In adults, antisocial and
other personality disorders may co-occur with ADHD. Other disorders that may co-occur
with ADHD include obsessive-compulsive disorder, tic disorders, and autism spectrum
disorder.
Other Specified Attention-Deficit/
Hyperactivity Disorder
314.01 (F90.8)
This category applies to presentations in which symptoms characteristic of attentiondeficit/hyperactivity
disorder that cause clinically significant distress or impairment in social,
occupational or other important areas of functioning predominate but do not meet the
full criteria for attention-deficit/hyperactivity disorder or any of the disorders in the neurodevelopmental
disorders diagnostic class. The other specified attention-deficit/hyperactivity
disorder category is used in situations in which the clinician chooses to communicate
the specific reason that the presentation does not meet the criteria for attention-deficit/
hyperactivity disorder or any specific neurodevelopmental disorder. This is done by recording
“other specified attention-deficit/hyperactivity disorder” followed by the specific
reason (e.g., “with insufficient inattention symptoms”).
Unspecified Attention-Deficit/
Hyperactivity Disorder
314.01 (F90.9)
This category applies to presentations in which symptoms characteristic of attentiondeficit/hyperactivity
disorder that cause clinically significant distress or impairment in social,
occupational, or other important areas of functioning predominate but do not meet the
full criteria for attention-deficit/hyperactivity disorder or any of the disorders in the neurodevelopmental
disorders diagnostic class. The unspecified attention-deficit/hyperactivity
disorder category is used in situations inwhich the clinician chooses not to specify the reason
that the criteria are not met for attention-deficit/hyperactivity disorder or for a specific
neurodevelopmental disorder, and includes presentations in which there is insufficient information
to make a more specific diagnosis.
Specific Learning Disorder
Specific Learning Disorder
Diagnostic Criteria
A. Difficulties learning and using academic skills, as indicated by the presence of at least
one of the following symptoms that have persisted for at least 6 months, despite the
provision of interventions that target those difficulties:
1. Inaccurate or slow and effortful word reading (e.g., reads single words aloud incorrectly
or slowly and hesitantly, frequently guesses words, has difficulty sounding
out words).
2. Difficulty understanding the meaning of what is read (e.g., may read text accurately
but not understand the sequence, relationships, inferences, or deeper meanings of
what is read).
3. Difficulties with spelling (e.g., may add, omit, or substitute vowels or consonants).
4. Difficulties with written expression (e.g., makes multiple grammatical or punctuation
errors within sentences; employs poor paragraph organization; written expression
of ideas lacks clarity).
5. Difficulties mastering number sense, number facts, or calculation (e.g., has poor
understanding of numbers, their magnitude, and relationships; counts on fingers to
add single-digit numbers instead of recalling the math fact as peers do; gets lost in
the midst of arithmetic computation and may switch procedures).
6. Difficulties with mathematical reasoning (e.g., has severe difficulty applying mathematical
concepts, facts, or procedures to solve quantitative problems).
B. The affected academic skills are substantially and quantifiably below those expected
for the individual’s chronological age, and cause significant interference with academic
or occupational performance, or with activities of daily living, as confirmed by individually
administered standardized achievement measures and comprehensive clinical
assessment. For individuals age 17 years and older, a documented history of impairing
learning difficulties may be substituted for the standardized assessment.
C. The learning difficulties begin during school-age years but may not become fully manifest
until the demands for those affected academic sl<ills exceed the individual’s limited
capacities (e.g., as in timed tests, reading or writing lengthy complex reports for a
tight deadline, excessively heavy academic loads).
D. The learning difficulties are not better accounted for by intellectual disabilities, uncorrected
visual or auditory acuity, other mental or neurological disorders, psychosocial
adversity, lack of proficiency in the language of academic instruction, or inadequate
educational instruction.
Note; The four diagnostic criteria are to be met based on a clinical synthesis of the individual’s
history (developmental, medical, family, educational), school reports, and psychoeducational
assessment.
Coding note: Specify all academic domains and subskills that are impaired. When more
than one domain is impaired, each one should be coded individually according to the following
specifiers.
Specify if:
315.00 (F81.0) With impairment in reading:
Word reading accuracy
Reading rate or fluency
Reading comprehension
Note: Dyslexia is an alternative term used to refer toa pattern of learning difficulties
characterized by problems with accurate orfluent word recognition, poor decoding,
and poor spelling abilities. If dyslexia is used to specify this particular pattern of difficulties,
it is important also to specify any additional difficulties that are present,
such as difficulties with reading comprehension or math reasoning.
315.2 (F81.81) Witli impairment in written expression:
Spelling accuracy
Grammar and punctuation accuracy
Clarity or organization of written expression
315.1 (FBI .2) With impairment in mathematics:
Number sense
Memorization of arithmetic facts
Accurate or fluent calculation
Accurate math reasoning
Note: Dyscalculia is an altemative term used to refer to a pattern of difficulties characterized
by problems processing numerical information, learning arithmetic facts,
and performing accurate or fluent calculations. If dyscalculia is used to specify this
particular pattern of mathematic difficulties, it is important also to specify any additional
difficultiesthat are present, such as difficultieswith math reasoning orword reasoning
accuracy.
Specify current severity:
lUliid: Some difficulties learning skills inone or two academic domains, but of mild enough
severity that the individual may be able tocompensate orfunction well when provided with
appropriate accommodations or support services, especially during the school years.
Moderate: Marked difficulties learning skills inone or more academic domains, so that
the individual is unlikely to become proficient without some intervals of intensive and
specialized teaching during the school years. Some accommodations or supportive
services at least part of the day at school, inthe workplace, or at home may be needed
to complete activities accurately and efficiently.
Severe: Severe difficulties learning skills, affecting several academic domains, so that
the individual is unlikely to learn those skills without ongoing intensive individualized
and specialized teaching for most of the school years. Even with an array of appropriate
accommodations or services at home, at school, or inthe workplace, the individual
may not be able to complete all activities efficiently.
Recording Procedures
Each impaired academic domain and subskill of specific learning disorder should be recorded.
Because of ICD coding requirements, impairments in reading, impairments in written
expression, and impairments in mathematics, with their corresponding impairments in
subskills, must be coded separately. For example, impairments in reading and mathematics
and impairments in the subskills of reading rate or fluency, reading comprehension, accurate
or fluent calculation, and accurate math reasoning would be coded and recorded as
315.00 (F81.0) specific learning disorder with impairment in reading, with impairment in
reading rate or fluency and impairment in reading comprehension; 315.1 (F81.2) specific
learning disorder with impairment in mathematics, with impairment in accurate or fluent
calculation and impairment in accurate math reasoning.
Diagnostic Features
Specific learning disorder is a neurodevelopmental disorder with a biological origin that is
the basis for abnormalities at a cognitive level that are associated with the behavioral signs
of the disorder. The biological origin includes an interaction of genetic, epigenetic, and environmental
factors, which affect the brain's ability to perceive or process verbal or nonverbal
information efficiently and accurately.
One essential feature of specific learning disorder is persistent difficulties learning keystone
academic skills (CriterionA), with onsetduring theyears offormal schooling (i.e., thedevelopmental
period). Key academic skills include reading of single words accurately and
fluently, reading comprehension, written expression and spelling, arithmetic calculation, and
mathematical reasoning (solving mathematical problems). In contrast to talking or walking,
which are acquired developmental milestones that emerge with brain maturation, academic
skills (e.g., reading, spelling, writing, mathematics) have to be taught and learned explicitly.
Specific learning disorder disrupts the normal pattern of learning academic skills; it is not simply
a consequence of lack of opportunity of learning or inadequate instruction. Difficulties
mastering these key academic skills may also impede learning in other academic subjects (e.g.,
history, science, social studies), but those problems are attributable to difficulties learning the
underlying academic skills. Difficulties learning to map letters with the sounds of one's language—^toread
printed words (often called dyslexia)—is one of the most common manifestations
of specific learning disorder. The learning difficulties manifest as a range of observable,
descriptivebehaviors or symptoms (as listed inCriteria A1-A6). These clinical symptoms may
be observed, probedby means oftheclinical interview, or ascertained from school reports, rating
scales, or descriptions in previous educational or psychological assessments. The learning
difficulties are persistent, not transitory. In children and adolescents, persistence is defined as
restricted progress in learning (i.e., no evidence that the individual is catching up with classmates)
for at least 6 months despite the provision ofextra help athome or school. For example,
difficulties learning to read single words thatdonot fullyor rapidly remitwith theprovision of
instruction in phonological skills or word identification strategies may indicate a specific
learning disorder. Evidence ofpersistent learning difficulties maybe derived fromcumulative
school reports, portfolios ofthechild's evaluatedwork, curriculum-based measures, orclinical
interview. In adults, persistent difficulty refers to ongoing difficulties in literacy or numeracy
skills that manifest during childhood or adolescence, as indicated by cumulative evidence
from school reports, evaluated portfolios of work, or previous assessments.
A second key feature is that the individual's performance of the affected academic skills is
well below average for age (Criterion B). One robust clinical indicator of difficulties learning
academic skills is low academic achievement for age or average achievement that is sustainableonlyby
extraordinarilyhighlevels ofeffortorsupport. Inchildren, thelowacademic skills
cause significant interference in school performance (as indicated by school reports and
teacher's grades or ratings). Another clinical indicator, particularly in adults, is avoidance of
activities that require the academic skills. Also in adulthood, low academic skills interfere with
occupational performance or everyday activities requiring those skills (as indicated by self-report
or report by others). However, this criterion also requires psychometric evidence from an
individually administered, psychometrically sound and culturally appropriate test of academic
achievement that is norm-referenced or criterion-referenced. Academic skills are distributed
along a continuum, so there is no natural cutpoint that can be used to differentiate
individuals with and without specific learning disorder. Thus, any threshold used to specify
what constitutes significantly low academic achievement (e.g., academic skills weUbelow age
expectation) is to a large extent arbitrary. Low achievement scores on one or more standardized
tests or subtests within an academic domain (i.e., at least 1.5 standard deviations [SD] below
the population mean for age, which translates to a standard score of 78 or less, which is
below the 7th percentile) are needed for the greatest diagnostic certainty. However, precise
scores will vary according to the particular standardized tests that are used. On the basis of
clinical judgment, a more lenient threshold may be used (e.g., 1.0-2.5 SD below the population
mean for age), when learning difficulties are supported by converging evidence
from clinical assessment, academic history, school reports, or test scores. Moreover, since
standardized tests are not available in all languages, the diagnosis may then be based in
part on clinical judgment of scores on available test measures.
A third core feature is that the learning difficulties are readily apparent in the early
school years in most individuals (Criterion C). However, in others, the learning difficulties
may not manifest fully until later school years, by which time learning demands have increased
and exceed the individual's limited capacities.
Another key diagnostic feature is that the learning difficulties are considered "specific,"
for four reasons. First, they are not attributable to intellectual disabilities (intellectual
disability [intellectual developmental disorder]); global developmental delay;
hearing or vision disorders, or neurological or motor disorders) (Criterion D). Specific
learning disorder affects learning in individuals who otherwise demonstrate normal levels
of intellectual functioning (generally estimated by an IQ score of greater than about 70
[±5 points allowing for measurement error]). The phrase "unexpected academic underachievement"
is often cited as the defining characteristic of specific learning disorder in
that the specific learning disabilities are not part of a more general learning difficulty as
manifested in intellectual disability or global developmental delay. Specific learning disorder
may also occur in individuals identified as intellectually "gifted." These individuals
may be able to sustain apparentiy adequate academic functioning by using compensatory
strategies, extraordinarily high effort, or support, until the learning demands or assessment
procedures (e.g., timed tests) pose barriers to their demonstrating their learning or
accomplishing required tasks. Second, the learning difficulty cannot be attributed to more
general external factors, such as economic or environmental disadvantage, chronic absenteeism,
or lack of education as typically provided in the individual's community context.
Third, the learning difficulty cannot be attributed to a neurological (e.g., pediatric stroke)
or motor disorders or to vision or hearing disorders, which are often associated with problems
learning academic skills but are distinguishable by presence of neurological signs.
Finally, the learning difficulty may be restricted to one academic skill or domain (e.g., reading
single words, retrieving or calculating number facts).
Comprehensive assessment is required. Specific learning disorder can only be diagnosed
after formal education starts but can be diagnosed at any point afterward in children, adolescents,
or adults, providing there is evidence of onset during the years of formal schooling (i.e.,
the developmental period). No single data source is sufficient for a diagnosis of specific learning
disorder. Rather, specific learning disorder is a clinical diagnosis based on a synthesis of
the individual's medical, developmental, educational, and family history; the history of the
learning difficulty, including its previous and current manifestation; the impact of the difficulty
on academic, occupational, or social functioning; previous or current school reports;
portfolios of work requiring academic skills; curriculum-based assessments; and previous or
current scores from individual standardized tests of academic achievement. If an intellectual,
sensory, neurological, or motor disorder is suspected, then the clinical assessment for specific
learning disorder should also include methods appropriate for these disorders. Thus, comprehensive
assessment will involve professionals with expertise in specific learning disorder and
psychological/cognitive assessment. Since specific learning disorder typically persists into
adulthood, reassessment is rarely necessary, unless indicated by marked changes in the learning
difficulties (amelioration or worsening) or requested for specific purposes.
Associated Features Supporting Diagnosis
Specific learning disorder is frequently but not invariably preceded, in preschool years, by
delays in attention, language, or motor skills that may persist and co-occur with specific
learning disorder. An uneven profile of abilities is common, such as above-average abilities
in drawing, design, and other visuospatial abilities, but slow, effortful, and inaccurate
reading and poor reading comprehension and written expression. Individuals with specific
learning disorder typically (but not invariably) exhibit poor performance on psychological
tests of cognitive processing. However, it remains unclear whether these cognitive
abnormalities are the cause, correlate, or consequence of the learning difficulties. Also, although
cognitive deficits associated with difficulties learning to read words are well documented,
those associated with other manifestations of specific learning disorder (e.g.,
reading comprehension, arithmetic computation, written expression) are underspecified
or unknown. Moreover, individuals with similar behavioral symptoms or test scores are
found to have a variety of cognitive deficits, and many of these processing deficits are also
found in other neurodevelopmental disorders (e.g., attention-deficit/hyperactivity disorder
[ADHD], autistic spectrum disorder, communication disorders, developmental coordination
disorder). Thus, assessment of cognitive processing deficits is not required for
diagnostic assessment. Specific learning disorder is associated with increased risk for suicidal
ideation and suicide attempts in children, adolescents, and adults.
There are no known biological markers of specific learning disorder. As a group, individuals
with the disorder show circumscribed alterations in cognitive processing and
brain structure and function. Genetic differences are also evident at the group level. But
cognitive testing, neuroimaging, or genetic testing are not useful for diagnosis at this time.
Prevalence
The prevalence of specific learning disorder across the academic domains of reading, writing,
and mathematics is 5%-15% among school-age children across different languages
and cultures. Prevalence in adults is unknown but appears to be approximately 4%.
Development and Course
Onset, recognition, and diagnosis of specific learning disorder usually occurs during the
elementary school years when children are required to learn to read, spell, write, and learn
mathematics. However, precursors such as language delays or deficits, difficulties in
rhyming or counting, or difficulties with fine motor skills required for writing commonly
occur in early childhood before the start of formal schooling. Manifestations may be behavioral
(e.g., a reluctance to engage in learning; oppositional behavior). Specific learning
disorder is lifelong, but the course and clinical expression are variable, in part depending
on the interactions among the task demands of the environment, the range and severity of
the individual's learning difficulties, the individual's learning abilities, comorbidity, and
the available support systems and intervention. Nonetheless, problems with reading fluency
and comprehension, spelling, written expression, and numeracy skills in everyday life
typically persist into adulthood.
Changes in manifestation of symptoms occur with age, so that an individual may have
a persistent or shifting array of learning difficulties across the lifespan.
Examples ofsymptoms thatmaybe observed among preschool-age children include alack
of interest in playing games with language sounds (e.g., repetition, rhyming), and they may
have trouble learning nursery rhymes. Preschool children with specific learning disorder may
frequently use baby talk, mispronounce words, and have trouble remembering names of letters,
numbers, or days of the week. They may fail to recognize letters in their own names and
have trouble learning tocount. Kindergarten-age children with specific learning disorder may
be unable to recognize and write letters, may be unable to write their own names, or may use
invented spelling. They may have trouble breaking down spoken words into syllables (e.g.,
"cowboy" into "cow" and "boy") and troublerecognizingwords thatrhyme (e.g., cat,bat, hat).
Kindergarten-age children alsomay have troublecormectingletterswith theirsounds (e.g., letter
b makes the sound /b/) and may be unable to recognize phonemes (e.g., do not know
which in a set of words [e.g., dog, man, car] starts with the same sound as "cat").
Specific learning disorder in elementary school-age children typically manifests as
marked difficulty learning letter-sound correspondence (particularly in English-speaking
children), fluent word decoding, spelling, or math facts; reading aloud is slow, inaccurate,
and effortful, and some children struggle to understand the magnitude that a spoken or
written number represents. Children in primary grades (grades 1-3) may continue to have
problems recognizing and manipulating phonemes, be unable to read common one-syllable
words (such as mat or top), and be unable recognize common irregularly spelled
words (e.g., said, two). They may commit reading errors that indicate problems in connecting
sounds and letters (e.g., "big" for "got") and have difficulty sequencing numbers
and letters. Children in grades 1-3 also may have difficulty remembering number facts or
arithmetic procedures for adding, subtracting, and so forth, and may complain that reading
or arithmetic is hard and avoid doing it. Children with specific learning disorder in the
middle grades (grades 4-6) may mispronounce or skip parts of long, multisyllable words
(e.g., say "conible" for "convertible," "aminal" for "animal") and confuse words that
sound alike (e.g., "tornado" for "volcano"). They may have trouble remembering dates,
names, and telephone numbers and may have trouble completing homework or tests on
time. Children in the middle grades also may have poor comprehension with or without
slow, effortful, and inaccurate reading, and they may have trouble reading small function
words (e.g., that, the, an, in). They may have very poor spelling and poor written work.
They may get the first part of a word correctly, then guess wildly (e.g., read "clover" as
"clock"), and may express fear of reading aloud or refuse to read aloud.
By contrast, adolescents may have mastered word decoding, but reading remains slow
and effortful, and they are likely to show marked problems in reading comprehension and
written expression (including poor spelling) and poor mastery of math facts or mathematical
problem solving. During adolescence and into adulthood, individuals with specific
learning disorder may continue to make numerous spelling mistakes and read single
words and connected text slowly and with much effort, with trouble pronouncing multisyllable
words. They may frequently need to reread material to understand or get the main
point and have trouble making inferences from written text. Adolescents and adults may
avoid activities that demand reading or arithmetic (reading for pleasure, reading instructions).
Adults with specific learning disorder have ongoing spelling problems, slow and
effortful reading, or problems making important inferences from numerical information
in work-related written documents. They may avoid both leisure and work-related activities
that demand reading or writing or use alternative approaches to access print (e.g.,
text-to-speech/speech-to-text software, audiobooks, audiovisual media).
An alternative clinical expression is that of circumscribed learning difficulties that persist
across the lifespan, such as an inability to master the basic sense of number (e.g., to
know which of a pair of numbers or dots represents the larger magnitude), or lack of proficiency
in word identification or spelling. Avoidance of or reluctance to engage in activities
requiring academic skills is common in children, adolescents, and adults. Episodes of
severe anxiety or anxiety disorders, including somatic complaints or panic attacks, are
common across the lifespan and accompany both the circumscribed and the broader expression
of learning difficulties.
Risk and Prognostic Factors
Environmental. Prematurity or very low birth weight increases the risk for specific
learning disorder, as does prenatal exposure to nicotine.
Genetic and physiological. Specific learning disorder appears to aggregate in families,
particularly when affecting reading, mathematics, and spelling. The relative risk of specific
learning disorder in reading or mathematics is substantially higher (e.g., 4-8 times
and 5-10 times higher, respectively) in first-degree relatives of individuals with these
learning difficulties compared with those without them. Family history of reading difficulties
(dyslexia) and parental literacy skills predict literacy problems or specific learning
disorder in offspring, indicating the combined role of genetic and environmental factors.
There is high heritability for both reading ability and reading disability in alphabetic and
nonalphabetic languages, including high heritability for most manifestations of learning abilities
and disabilities (e.g., heritability estimate values greater than 0.6). Covariation between
various manifestations of learning difficulties is high, suggesting that genes related to one
presentation are highly correlated with genes related to another manifestation.
Course modifiers. Marked problems with inattentive behavior in preschool years is predictive
of later difficulties in reading and mathematics (but not necessarily specific learning
disorder) and nonresponse to effective academic interventions. Delay or disorders in
speech or language, or impaired cognitive processing (e.g., phonological awareness,
working memory, rapid serial naming) in preschool years, predicts later specific learning
disorder in reading and written expression. Comorbidity with ADHD is predictive of
worse mental health outcome than that associated with specific learning disorder without
ADHD. Systematic, intensive, individualized instruction, using evidence-based interventions,
may improve or ameliorate the learning difficulties in some individuals or promote
the use of compensatory strategies in others, thereby mitigating the otherwise poor out-
comes.
Culture-Related Diagnostic issues
Specific learning disorder occurs across languages, cultures, races, and socioeconomic
conditions but may vary in its manifestation according to the nature of the spoken and
written symbol systems and cultural and educational practices. For example, the cognitive
processing requirements of reading and of working with numbers vary greatly across orthographies.
In the English language, the observable hallmark clinical symptom of difficulties
learning to read is inaccurate and slow reading of single words; in other alphabetic
languages that have more direct mapping between sounds and letters (e.g., Spanish, German)
and in non-alphabetic languages (e.g., Chinese, Japanese), the hallmark feature is
slow but accurate reading. In English-language learners, assessment should include consideration
of whether the source of reading difficulties is a limited proficiency with English
or a specific learning disorder. Risk factors for specific learning disorder in Englishlanguage
learners include a family history of specific learning disorder or language delay
in the native language, as well as learning difficulties in English and failure to catch up
with peers. If there is suspicion of cultural or language differences (e.g., as in an Englishlanguage
learner), the assessment needs to take into account the individual's language
proficiency in his or her first or native language as well as in the second language (in this
example, English). Also, assessment should consider the linguistic and cultural context in
which the individual is living, as well as his or her educational and learning history in the
original culture and language.
Gender-Related Diagnostic issues
Specific learning disorder is more common in males than in females (ratios range from
about 2:1 to 3:1) and cannot be attributed to factors such as ascertainment bias, definitional
or measurement variation, language, race, or socioeconomic status.
Functionai Consequences of
Specific Learning Disorder
Specific learning disorder can have negative functional consequences across the lifespan,
including lower academic attainment, higher rates of high school dropout, lower rates of
postsecondary education, high levels of psychological distress and poorer overall mental
health, higher rates of unemployment and under-employment, and lower incomes. School
dropout and co-occurring depressive symptoms increase the risk for poor mental health
outcomes, including suicidality, whereas high levels of social or emotional support predict
better mental health outcomes.
Differential Diagnosis
Normal variations in academic attainment. Specific learning disorder is distinguished
from normal variations in academic attainment due to external factors (e.g., lack of educational
opportunity, consistently poor instruction, learning in a second language), because
the learning difficulties persist in the presence of adequate educational opportunity
and exposure to the same instruction as the peer group, and competency in the language of
instruction, even when it is different from one's primary spoken language.
Intellectual disability (intellectual developmental disorder). Specific learning disorder
differs from general learning difficulties associated with intellectual disability, because the
learning difficulties occur in the presence of normal levels of intellectual functioning (i.e.,
IQ score of at least 70 ± 5). If intellectual disability is present, specific learning disorder can
be diagnosed only when the learning difficulties are in excess of those usually associated
with the intellectual disability.
Learning difficulties due to neurological or sensory disorders. Specific learning disorder
is distinguished from learning difficulties due to neurological or sensory disorders
(e.g., pediatric stroke, traumatic brain injury, hearing impairment, vision impairment), because
in these cases there are abnormal findings on neurological examination.
Neurocognitive disorders. Specific learning disorder is distinguished from learning
problems associated with neurodegenerative cognitive disorders, because in specific
learning disorder the clinical expression of specific learning difficulties occurs during the
developmental period, and the difficulties do not manifest as a marked decline from a former
state.
Attention-deficit/hyperactivity disorder. Specific learning disorder is distinguished from
the poor academic performance associated with ADHD, because in the latter condition the
problems may not necessarily reflect specific difficulties in learning academic skills but
rather may reflect difficulties in performing those skills. However, the co-occurrence of
specific learning disorder and ADHD is more frequent than expected by chance. If criteria
for both disorders are met, both diagnoses can be given.
Psychotic disorders. Specific learning disorder is distinguished from the academic and
cognitive-processing difficulties associated with schizophrenia or psychosis, because with
these disorders there is a decline (often rapid) in these functional domains.
Comorbidity
Specific learning disorder commonly co-occurs with neurodevelopmental (e.g., ADHD,
communication disorders, developmental coordination disorder, autistic spectrum disorder)
or other mental disorders (e.g., anxiety disorders, depressive and bipolar disorders).
These comorbidities do not necessarily exclude the diagnosis specific learning disorder
but may make testing and differential diagnosis more difficult, because each of the cooccurring
disorders independently interferes with the execution of activities of daily living,
including learning. Thus, clinical judgment is required to attribute such impairment to
learning difficulties. If there is an indication that another diagnosis could account for the
difficulties learning keystone academic skills described in Criterion A, specific learning
disorder should not be diagnosed.
Motor Disorders
Developmental Coordination Disorder
Diagnostic Criteria 315.4 (F82)
A. The acquisition and execution of coordinated motor skills issubstantially belowthat expected
given the individual’s chronological age and opportunity for skill learning and
use. Difficulties are manifested as clumsiness (e.g., dropping or bumping into objects)
as well as slowness and inaccuracy of performance of motor skills (e.g., catching an
object, using scissors or cutlery, handwriting, riding a bike, or participating in sports).
B. The motor skills deficit in Criterion A significantly and persistently interferes with activities
of daily living appropriate to chronological age (e.g., self-care and self-maintenance)
and impacts academic/school productivity, prevocational and vocational
activities, leisure, and play.
C. Onset of symptoms is in the early developmental period.
D. The motor skillsdeficits are not better explained by intellectual disability (Intellectual developmental
disorder) or visual impairment and are not attributable to a neurological condition
affecting movement (e.g., cerebral palsy, muscular dystrophy, degenerative disorder).
Diagnostic Features
The diagnosis of developmental coordinahon disorder is made by a clinical synthesis of the
history (developmental and medical), physical examination, school or workplace report, and
individual assessment usingpsychometrically sound and culturally appropriate standardized
tests. The manifestation of impaired skills requiring motor coordination (Criterion A) varies
with age. Young children maybe delayed in achieving motor milestones (i.e., sitting, crawling,
walking), although many achieve typical motor milestones. They also may be delayed in developing
skills such as negotiating stairs, pedaling, buttoning shirts, completing puzzles, and
using zippers. Even when the skill is achieved, movement execution may appear awkward,
slow, orless precise than thatofpeers. Olderchildren and adults may displayslow speed orinaccuracywith
motor aspects ofactivities suchas assembling puzzles,building models, playing
ball games (especially in teams), handwriting, typing, driving, or carrying out self-care sldlls.
Developmental coordination disorder is diagnosed only if the impairment in motor
skills significantly interferes with the performance of, or participation in, daily activities in
family, social, school, or community life (Criterion B). Examples of such activities include
getting dressed, eating meals with age-appropriate utensils and without mess, engaging
in physical games with others, using specific tools in class such as rulers and scissors, and
participating in team exercise activities at school. Not only is ability to perform these actions
impaired, but also marked slowness in execution is common. Handwriting competence
is frequently affected, consequently affecting legibility and/or speed ofwritten output
and affecting academic achievement (the impact is distinguished from specific learning
difficulty by the emphasis on the motoric component of written output skills). In adults,
everyday skills in education and work, especially those in which speed and accuracy are
required, are affected by coordination problems.
Criterion C states that the onset of symptoms of developmental coordination disorder
mustbe in the early developmental period. However, developmental coordination disorder is
typically not diagnosed before age 5 years because there is considerable variation in the age at
acquisition of many motor skills or a lack of stability of measurement in early childhood (e.g.,
some children catch up) orbecauseothercauses ofmotor delay may nothave fully manifested.
Criterion D specifies that the diagnosis of developmental coordination disorder is
made if the coordination difficulties are not better explained by visual impairment or attributable
to a neurological condition. Thus, visual function examination and neurological
examination must be included in the diagnostic evaluation. If intellectual disability (intellectual
developmental disorder) is present, the motor difficulties are in excess of those expected
for the mental age; however, no IQ cut-off or discrepancy criterion is specified.
Developmental coordination disorder does not have discrete subtypes; however, individuals
may be impaired predominantly in gross motor skills or in fine motor skills, including
handwriting skills.
Other terms used to describe developmental coordination disorder include childhood
dyspraxia, specific developmental disorder of motorfunction, and clumsy child syndrome.
Associated Features Supporting Diagnosis
Some children with developmental coordination disorder show additional (usually suppressed)
motor activity, such as choreiform movements of unsupported limbs or mirror
movements. These "overflow" movements are referred toas neurodevelopmental immaturities or
neurological soft signs rather than neurological abnormalities. In both current literature and
clinical practice, their role in diagnosis is still unclear, requiring further evaluation.
Prevaience
The prevalence of developmental coordination disorder in children ages 5-11 years is 5%-
6% (in children age 7 years, 1.8% are diagnosed with severe developmental coordination
disorder and 3% with probable developmental coordination disorder). Males are more often
affected than females, with a maleifemale ratio between 2:1 and 7:1.
Development and Course
The course of developmental coordination disorder is variable but stable at least to 1 year
follow-up. Although there may be improvement in the longer term, problems with coor-
dinated movements continue through adolescence in an estimated 50%-70% of children.
Onset is in early childhood. Delayed motor milestones may be the first signs, or the disorder
is first recognized when the child attempts tasks such as holding a knife and fork, buttoning
clothes, or playing ball games. In middle childhood, there are difficulties with
motor aspects of assembling puzzles, building models, playing ball, and handwriting, as
well as with organizing belongings, when motor sequencing and coordination are required.
In early adulthood, there is continuing difficulty in learning new tasks involving
complex/automatic motor skills, including driving and using tools. Inability to take notes
and handwrite quickly may affect performance in the workplace. Co-occurrence with
other disorders (see the section "Comorbidity" for this disorder) has an additional impact
on presentation, course, and outcome.
Risk and Prognostic Factors
Environmental. Developmental coordination disorder is more common following prenatal
exposure to alcohol and in preterm and low-birth-weight children.
Genetic and physiological. Impairments in underlying neurodevelopmental processes—
particularly in visual-motor skills, both in visual-motor perception and spatial mentalizing—
have been found and affect the ability to make rapid motoric adjustments as the complexity of
the required movements increases. Cerebellar dysfunction has been proposed, but the neural
basis ofdevelopmental coordination disorder remains unclear. Because oftheco-occurrence of
developmental coordination disorder with attention-deficit/hyperactivity disorder (ADHD),
specific learning disabilities, and autismspectrumdisorder, shared geneticeffecthasbeen proposed.
However, consistent co-occurrence in twins appears only in severe cases.
Course modifiers. Individuals with ADHD and with developmental coordination disorder
demonstrate more impairment than individuals with ADHD without developmental
coordination disorder.
Culture-Related Diagnostic issues
Developmental coordination disorder occurs across cultures, races, and socioeconomic
conditions. By definition, "activities of daily living" implies cultural differences necessitating
consideration of the context in which the individual child is living as well as
whether he or she has had appropriate opportunities to learn and practice such activities.
Functional Consequences of
Developmental Coordination Disorder
Developmental coordination disorder leads to impaired functional performance in activities
of daily living (Criterion B), and the impairment is increased with co-occurring conditions.
Consequences of developmental coordination disorder include reduced
participation in team play and sports; poor self-esteem and sense of self-worth; emotional
or behavior problems; impaired academic achievement; poor physical fitness; and reduced
physical activity and obesity.
Differential Diagnosis
Motor impairments due to another medical condition. Problems in coordination may
be associated with visual function impairment and specific neurological disorders (e.g.,
cerebral palsy, progressive lesions of the cerebellum, neuromuscular disorders). In such
cases, there are additional findings on neurological examination.
Intellectual disability (intellectual developmental disorder). If intellectual disability is
present, motor competences may be impaired in accordance with the intellectual disabil-
ity. However, if the motor difficulties are in excess of what could be accounted for by the
intellectual disability, and criteria for developmental coordination disorder are met, developmental
coordination disorder can be diagnosed as well.
Attention-deficit/hyperactivity disorder. Individuals with ADHD may fall, bump into
objects, or knock things over. Careful observation across different contexts is required to
ascertain if lack of motor competence is attributable to distractibility and impulsiveness
rather than to developmental coordination disorder. If criteria for both ADHD and developmental
coordination disorder are met, both diagnoses can be given.
Autism spectrum disorder. Individuals with autism spectrum disorder may be uninterested
in participating in tasks requiring complex coordination skills, such as ball sports,
which will affect test performance and function but not reflect core motor competence. Cooccurrence
of developmental coordination disorder and autism spectrum disorder is common.
If criteria for both disorders are met, both diagnoses can be given.
Joint hypermobility syndrome. Individuals with syndromes causing hyperextensible
joints (found on physical examination; often with a complaint of pain) may present with
symptoms similar to those of developmental coordination disorder.
Comorbidity
Disorders that commonly co-occur with developmental coordination disorder include
speech and language disorder; specific learning disorder (especially reading and writing);
problems of inattention, including ADHD (the most frequent coexisting condition, with
about 50% co-occurrence); autism spectrum disorder; disruptive and emotional behavior
problems; and joint hypermobility syndrome. Different clusters of co-occurrence may be
present (e.g., a cluster with severe reading disorders, fine motor problems, and handwriting
problems; another cluster with impaired movement control and motor planning). Presence
of other disorders does not exclude developmental coordination disorder but may make
testing more difficult and may independently interfere with the execution of activities of
daily living, thus requiring examiner judgment in ascribing impairment to motor skills.
Stereotypic Movement Disorder
Diagnostic Criteria 307.3 (F98.4)
A. Repetitive, seemingly driven, and apparently purposeless motor behavior (e.g., hand
shaking or waving, body rocking, head banging, self-biting, hitting own body).
B. The repetitive motor behavior interferes with social, academic, or other activities and
may result in self-injury.
C. Onset is in the early developmental period.
D. The repetitive motor behavior is not attributable to the physiological effects of a substance
or neurological condition and is not better explained by another neurodevelopmental
or mental disorder (e.g., trichotillomania [hair-pulling disorder], obsessivecompulsive
disorder).
Specify if:
With self-injurious behavior (or behavior that would result in an injury if preventive
measures were not used)
Without self-injurious behavior
Specify if:
Associated with a known medical or genetic condition, neurodevelopmental disorder,
or environmental factor (e.g., Lesch-Nyhan syndrome, intellectual disability
[intellectual developmental disorder], intrauterine alcohol exposure)
Coding note: Use additional code to identify the associated medical or genetic
condition, or neurodevelopmental disorder.
Specify current severity:
Mild: Symptoms are easily suppressed by sensory stimulus or distraction.
Moderate: Symptoms require explicit protective measures and behavioral modification.
Severe: Continuous monitoring and protective measures are required to prevent serious
injury.
Recording Procedures
For stereotypic movement disorder that is associated with a known medical or genetic
condition, neurodevelopmental disorder, or environmental factor, record stereotypic
movement disorder associated with (name of condition, disorder, or factor) (e.g., stereotypic
movement disorder associated with Lesch-Nyhan syndrome).
Specifiers
The severity of non-self-injurious stereotypic movements ranges from mild presentations
that are easily suppressed by a sensory stimulus or distraction to continuous movements
that markedly interfere with all activities ofdaily living. Self-injuriousbehaviors range in severity
along various dimensions, including the frequency, impact on adaptive functioning,
and severity of bodily injury (from mild bruising or erythema from hitting hand against
body, to lacerations or amputation of digits, to retinal detachment from head banging).
Diagnostic Features
The essential feature of stereotypic movement disorder is repetitive, seemingly driven,
and apparently purposeless motor behavior (Criterion A). These behaviors are often
rhythmical movements of the head, hands, or body without obvious adaptive function.
The movements may or may not respond to efforts to stop them. Among typically developing
children, the repetitive movements may be stopped when attention is directed to
them or when the child is distracted from performing them. Among children with neurodevelopmental
disorders, the behaviors are typically less responsive to such efforts. In
other cases, the individual demonstrates self-restraining behaviors (e.g., sitting on hands,
wrapping arms in clothing, finding a protective device).
The repertoire of behaviors is variable; each individual presents with his or her own individually
patterned, "signature" behavior. Examples of non-self-injurious stereotypic
movements include, but are not limited to, body rocking, bilateral flapping or rotating
hand movements, flicking or fluttering fingers in front of the face, arm waving or flapping,
and head nodding. Stereotyped self-injurious behaviors include, but are not limited to, repetitive
head banging, face slapping, eye poking, and biting of hands, lips, or other body
parts. Eye poking is particularly concerning; it occurs more frequently among children
with visual impairment. Multiple movements may be combined (e.g., cocking the head,
rocking the torso, waving a small string repetitively in front of the face).
Stereotypic movements may occur many times during a day, lasting a few seconds to
several minutes or longer. Frequency can vary from many occurrences in a single day to
several weeks elapsing between episodes. The behaviors vary in context, occurring when
the individual is engrossed in other activities, when excited, stressed, fatigued, or bored.
Criterion A requires that the movements be "apparently" purposeless. However, some
functions may be served by the movements. For example, stereotypic movements might
reduce anxiety in response to external stressors.
Criterion B states that the stereotypic movements interfere with social, academic, or
other activities and, in some children, may result in self-injury (or would if protective measures
were not used). If self-injury is present, it should be coded using the specifier. Onset
of stereotypic movements is in the early developmental period (Criterion C). Criterion D
states that the repetitive, stereotyped behavior in stereotypic movement disorder is not attributable
to the^physiological effects of a substance or neurological condition and is not
better explained by another neurodevelopmental or mental disorder. The presence of
stereotypic movements may indicate an undetected neurodevelopmental problem, especially
in children ages 1-3 years.
Prevalence
Simple stereotypic movements (e.g., rocking) are common in young typically developing children.
Complex stereotypic movements are much less common (occurring in approximately
3%-4%). Between 4% and 16°/«of individuals v^ithintellectual disability (intellectual developmental
disorder) engage in stereotypy and self-injury. The risk is greater in individuals with
severe intellectual disability. Among individuals with intellectual disability living in residential
facilities, 10%-15% may have stereotypic movement disorder with self-injury.
Development and Course
Stereotypic movements typicallybegin within the first3 years oflife. Simple stereotypic movements
are common in infancy and may be involved in acquisition of motor mastery. In children
who develop complex motor stereotypies, approximately 80% exhibit symptoms before
24 months of age, 12%between 24 and 35 months, and 8% at 36 months or older. In most typically
developing children, these movements resolve over time or can be suppressed. Onset of
complex motor stereotypies may be in infancy or later in the developmental period. Among
individuals with intellectual disability, the stereotyped, self-injurious behaviors may persist
for years, even though the typography or pattern of self-injury may change.
Risk and Prognostic Factors
Environmental. Social isolation is a risk factor for self-stimulation that may progress to
stereotypic movements with repetitive self-injury. Environmental stress may also trigger
stereotypic behavior. Fear may alter physiological state, resulting in increased frequency
of stereotypic behaviors.
Genetic and physiological. Lower cognitive functioning is linked to greater risk for stereotypic
behaviors and poorer response to interventions. Stereotypic movements are more frequent
among individuals with moderate-to-severe/profound intellectual disability, who by
virtue ofaparticular syndrome (e.g., Rett syndrome) orenvironmental factor (e.g., an environment
with relatively insufficient stimulation) seem tobe at higher risk for stereotypies. Repetitive
self-injurious behavior may be a behavioral phenotype in neurogenetic syndromes. For
example, in Lesch-Nyhan syndrome, there are both stereotypic dystonie movements and selfmutilation
of fingers, lip biting, and other forms of self-injury unless the individual is restrained,
and in Rett syndrome and Cornelia de Lange syndrome, self-injury may result from
the hand-to-mouth stereotypies. Stereotypic behaviors may result from a painful medical condition
(e.g., middle ear infection, dental problems, gastroesophageal reflux).
Culture-Related Diagnostic Issues
Stereotypic movement disorder, with or without self-injury, occurs in all races and cultures.
Cultural attitudes toward unusual behaviors may result in delayed diagnosis. Overall cultural
tolerance and attitudes toward stereotypic movement vary and must be considered.
Differential Diagnosis
Normal development. Simple stereotypic movements are common in infancy and early
childhood. Rocking may occur in the transition from sleep to awake, a behavior that usu-
ally resolves with age. Complex stereotypies are less common in typically developing
children and can usually be suppressed by distraction or sensory stimulation. The individual's
daily routine is rarely affected, and the movements generally do not cause the
child distress. The diagnosis would not be appropriate in these circumstances.
Autism spectrum disorder. Stereotypic movements may be a presenting symptom of
autism spectrum disorder and should be considered when repetitive movements and behaviors
are being evaluated. Deficits of social communication and reciprocity manifesting
in autism spectrum disorder are generally absent in stereotypic movement disorder, and
thus social interaction, social communication, and rigid repetitive behaviors and interests
are distinguishing features. When autism spectrum disorder is present, stereotypic movement
disorder is diagnosed only when there is self-injury or when the stereotypic behaviors
are sufficiently severe to become a focus of treatment.
Tic disorders. Typically, stereotypies have an earlier age at onset (before 3 years) than
do tics, which have a mean age at onset of 5-7 years. They are consistent and fixed in their
pattern or topography compared with tics, which are variable in their presentation. Stereotypies
may involve arms, hands, or the entire body, while tics commonly involve eyes,
face, head, and shoulders. Stereotypies are more fixed, rhythmic, and prolonged in duration
than tics, which, generally, are brief, rapid, random, and fluctuating. Tics and stereotypic
movements are both reduced by distraction.
Obsessive-compulsive and related disorders. Stereotypic movement disorder is distinguished
from obsessive-compulsive disorder (OCD) by the absence of obsessions, as
well as by the nature of the repetitive behaviors. In OCD the individual feels driven to perform
repetitive behaviors in response to an obsession or according to rules that must be applied
rigidly, whereas in stereotypic movement disorder the behaviors are seemingly
driven but apparently purposeless. Trichotillomania (hair-pulling disorder) and excoriation
(skin-picking) disorder are characterized by body-focused repetitive behaviors (i.e.,
hair pulling and skin picking) that may be seemingly driven but that are not apparently
purposeless, and that may not be patterned or rhythmical. Furthermore, onset in trichotillomania
and excoriation disorder is not typically in the early developmental period, but
rather around puberty or later.
Other neurological and medical conditions. The diagnosis of stereotypic movements
requires the exclusion of habits, mannerisms, paroxysmal dyskinesias, and benign hereditary
chorea. A neurological history and examination are required to assess features
suggestive of other disorders, such as myoclonus, dystonia, tics, and chorea. Involuntary
movements associated with a neurological condition may be distinguished by their signs
and symptoms. For example, repetitive, stereotypic movements in tardive dyskinesia can
be distinguished by a history of chronic neuroleptic use and characteristic oral or facial
dyskinesia or irregular trunk or limb movements. These types of movements do not result
in self-injury. A diagnosis of stereotypic movement disorder is not appropriate for repetitive
skin picking or scratching associated with amphetamine intoxication or abuse (e.g.,
patients are diagnosed with substance/medication-induced obsessive-compulsive and related
disorder) and repetitive choreoathetoid movements associated with other neurological
disorders.
Comorbidity
Stereotypic movement disorder may occur as a primary diagnosis or secondary to another
disorder. For example, stereotypies are a common manifestation of a variety of neurogenetic
disorders, such as Lesch-Nyhan syndrome, Rett syndrome, fragile X syndrome,
Cornelia de Lange syndrome, and Smith-Magenis syndrome. When stereotypic movement
disorder co-occurs with another medical condition, both should be coded.
Tic Disorders
------------------------ ----------------------------------------------------------------------------------------------------------------
Diagnostic Criteria
Note: A tic is a sudden, rapid, recurrent, nonrhythmic motor movement or vocalization.
Tourette’s Disorder 307.23 (F95.2)
A. Both multiple motor and one or more vocal tics have been present at some time during
the illness, although not necessarily concurrently.
B. The tics may wax and wane infrequency but have persisted for more than 1year since
first tic onset.
C. Onset is before age 18 years.
D. The disturbance is not attributable to the physiological effects of a substance (e.g., cocaine)
or another medical condition (e.g., Huntington’s disease, postviral encephalitis).
Persistent (Chronic) Motor or Vocal Tic Disorder 307.22 (F95.1 )
A. Single or multiple motor or vocal tics have been present during the illness, but not both
motor and vocal.
B. The tics may wax and wane infrequency but have persisted for more than 1year since
first tic onset.
C. Onset is before age 18 years.
D. The disturbance is not attributable to the physiological effects of a substance (e.g., cocaine)
or another medical condition (e.g., Huntington’s disease, postviral encephalitis).
E. Criteria have never been met for Tourette’s disorder.
Specify if:
With motor tics only
With vocal tics only
Provisional Tic Disorder 307.21 (F95.0)
A. Single or multiple motor and/or vocal tics.
B. The tics have been present for less than 1 year since first tic onset.
C. Onset is before age 18 years.
D. The disturbance is not attributable to the physiological effects of a substance (e.g., cocaine)
or another medical condition (e.g., Huntington’s disease, postviral encephalitis).
E. Criteria have never been met for Tourette’s disorder or persistent (chronic) motor or
vocal tic disorder.______________________________________________________
Specifiers
The "motor tics only" or "vocal tics only" specifier is only required for persistent (chronic)
motor or vocal tic disorder.
Diagnostic Features
Tic disorders comprise four diagnostic categories: Tourette's disorder, persistent (chronic)
motor or vocal tic disorder, provisional tic disorder, and the other specified and unspecified
tic disorders. Diagnosis for any tic disorder is based on the presence of motor and/or vocal
tics (Criterion A), duration of tic symptoms (Criterion B), age at onset (Criterion C), and absence
of any known cause such as another medical condition or substance use (Criterion D).
The tic disorders are hierarchical in order (i.e., Tourette's disorder, followed by persistent
[chronic] motor or vocal tic disorder, followed by provisional tic disorder, followed by the
other specified and unspecified tic disorders), such that once a tic disorder at one level of the
hierarchy is diagnosed, a lower hierarchy diagnosis cannot be made (Criterion E).
Tics are sudden, rapid, recurrent, nonrhythmic motor movements or vocalizations. An
individual may have various tic symptoms over time, but at any point in time, the tic repertoire
recurs in a characteristic fashion. Although tics can include almost any muscle group
or vocalization, certain tic symptoms, such as eye blinking or throat clearing, are common
across patient populations. Tics are generally experienced as involuntary but can be voluntarily
suppressed for varying lengths of time.
Tics can be either simple or complex. Simple motor tics are of short duration (i.e., milliseconds)
and can include eye blinking, shoulder shrugging, and extension of the extremities.
Simple vocal tics include throat clearing, sniffing, and grunting often caused by
contraction of the diaphragm or muscles of the oropharynx. Complex motor tics are of longer
duration (i.e., seconds) and often include a combination of simple tics such as simultaneous
head turning and shoulder shrugging. Complex tics can appear purposeful, such
as a tic-like sexual or obscene gesture (copropraxia) or a tic-like imitation of someone else's
movements (echopraxia). Similarly, complex vocal tics include repeating one's own sounds
or words {palilalia), repeating the last-heard word or phrase (echolalia), or uttering socially
unacceptable words, including obscenities, or ethnic, racial, or religious slurs (coprolalia).
Importantly, coprolalia is an abrupt, sharp bark or grunt utterance and lacks the prosody
of similar inappropriate speech observed in human interactions.
The presence of motor and/or vocal tics varies across the four tic disorders (Criterion
A). For Tourette's disorder, both motor and vocal tics must be present, whereas for persistent
(chronic) motor or vocal tic disorder, only motor or only vocal tics are present. For
provisional tic disorder, motor and/or vocal tics may be present. For other specified or unspecified
tic disorders, the movement disorder symptoms are best characterized as tics but
are atypical in presentation or age at onset, or have a known etiology.
The 1-year minimum duration criterion (Criterion B) assures that individuals diagnosed
with either Tourette's disorder or persistent (chronic) motor or vocal tic disorder
have had persistent symptoms. Tics wax and wane in severity, and some individuals may
have tic-free periods of weeks to months; however, an individual who has had tic symptoms
of greater than 1 year's duration since first tic onset would be considered to have persistent
symptoms regardless of duration of tic-free periods. For an individual with motor
and/or vocal tics of less than 1year since first tic onset, a provisional tic disorder diagnosis
can be considered. There is no duration specification for other specified and unspecified tic
disorders. The onset of tics must occur prior to age 18 years (Criterion C). Tic disorders
typically begin in the prepubertal period, with an average age at onset between 4 and 6
years, and with the incidence of new-onset tic disorders decreasing in the teen years. New
onset of tic symptoms in adulthood is exceedingly rare and is often associated with exposures
to drugs (e.g., excessive cocaine use) or is a result of a central nervous system insult
(e.g., postviral encephalitis). Although tic onset is uncommon in teenagers and adults, it is
not uncommon for adolescents and adults to present for an initial diagnostic assessment
and, when carefully evaluated, provide a history of milder symptoms dating back to childhood.
New-onset abnormal movements suggestive of tics outside of the usual age range
should result in evaluation for other movement disorders or for specific etiologies.
Tic symptoms cannot be attributable to the physiological effects of a substance or another
medical condition (Criterion D). When there is strong evidence from the history,
physical examination, and/or laboratory results to suggest a plausible, proximal, and
probable cause for a tic disorder, a diagnosis of other specified tic disorder should be used.
Having previously met diagnostic criteria for Tourette's disorder negates a possible diagnosis
of persistent (chronic) motor or vocal tic disorder (Criterion E). Similarly, a previous
diagnosis of persistent (chronic) motor or vocal tic disorder negates a diagnosis of
provisional tic disorder or other specified or unspecified tic disorder (Criterion E).
Prevalence
Tics are common in childhood but transient in most cases. The estimated prevalence of
Tourette's disorder ranges from 3 to 8 per 1,000 in school-age children. Males are more
commonly affected than females, with the ratio varying from 2:1 to 4:1. A national survey
in the United States estimated 3 per 1,000 for the prevalence of clinically identified cases.
The frequency of identified cases was lower among African Americans and Hispanic
Americans, which may be related to differences in access to care.
Development and Course
Onset of tics is typically between ages 4 and 6 years. Peak severity occurs between ages 10
and 12 years, with a decline in severity during adolescence. Many adults with tic disorders
experience diminished symptoms. A small percentage of individuals will have persistently
severe or worsening symptoms in adulthood.
Tic symptoms manifest similarly in all age groups and across the lifespan. Tics wax and
wane in severity and change in affected muscle groups and vocalizations over time. As
children get older, they begin to report their tics being associated with a premonitory
urge—a somatic sensation that precedes the tic—and a feeling of tension reduction following
the expression of the tic. Tics associated with a premonitory urge may be experienced
as not completely ''involuntary" in that the urge and the tic can be resisted. An individual
may also feel the need to perform a tic in a specific way or repeat it until he or she achieves
the feeling that the tic has been done "'just right."
The vulnerability toward developing co-occurring conditions changes as individuals
pass through the age of risk for various co-occurring conditions. For example, prepubertal
children with tic disorders are more likely to experience attention-deficit/hyperactivity
disorder (ADHD), obsessive-compulsive disorder (OCD), and separation anxiety disorder
than are teenagers and adults, who are more likely to experience the new onset of major
depressive disorder, substance use disorder, or bipolar disorder.
Risk and Prognostic Factors
Temperamental. Tics are worsened by anxiety, excitement, and exhaustion and are better
during calm, focused activities. Individuals may have fewer tics when engaged in schoolwork
or tasks at work than when relaxing at home after school or in the evening. Stressful/exciting
events (e.g., taking a test, participating in exciting activities) often make tics worse.
Environmental. Observing a gesture or sound in another person may result in an individual
with a tic disorder making a similar gesture or sound, which may be incorrectly
perceived by others as purposeful. This can be a particular problem when the individual is
interacting with authority figures (e.g., teachers, supervisors, police).
Genetic and physiological. Genetic and environmental factors influence tic symptom
expression and severity. Important risk alleles for Tourette's disorder and rare genetic
variants in families with tic disorders have been identified. Obstetrical complications,
older paternal age, lower birth weight, and maternal smoking during pregnancy are associated
with worse tic severity.
Culture-Related Diagnostic Issues
Tic disorders do not appear to vary in clinical characteristics, course, or etiology by race,
ethnicity, and culture. However, race, ethnicity, and culture may impact how tic disorders
are perceived and managed in the family and community, as well as influencing patterns
of help seeking, and choices of treatment.
Gender-Related Diagnostic Issues
Males are more commonly affected than females, but there are no gender differences in the
kinds of tics, age at onset, or course. Women with persistent tic disorders may be more
likely to experience anxiety and depression.
Functional Consequences of Tic Disorders
Many individuals with mild to moderate tic severity experience no distress or impairment
in functioning and may even be unaware of their tics. Individuals with more severe symptoms
generally have more impairment in daily living, but even individuals with moderate
or even severe tic disorders may function well. The presence of a co-occurring condition,
such as ADHD or OCD, can have greater impact on functioning. Less commonly, tics disrupt
functioning in daily activities and result in social isolation, interpersonal conflict,
peer victimization, inability to work or to go to school, and lower quality of life. The individual
also may experience substantial psychological distress. Rare complications of Tourette's
disorder include physical injury, such as eye injury (from hitting oneself in the face),
and orthopedic and neurological injury (e.g., disc disease related to forceful head and neck
movements).
Differential Diagnosis
Abnormal movements that may accompany other medical conditions and stereotypic
movement disorder. Motor stereotypies are defined as involuntary rhythmic, repetitive,
predictable movements that appear purposeful but serve no obvious adaptive function or
purpose and stop with distraction. Examples include repetitive hand waving/rotating,
arm flapping, and finger wiggling. Motor stereotypies can be differentiated from tics based
on the former's earlier age at onset (younger than 3 years), prolonged duration (seconds to
minutes), constant repetitive fixed form and location, exacerbation when engrossed in activities,
lack of a premonitory urge, and cessation with distraction (e.g., name called or
touched). Chorea represents rapid, random, continual, abrupt, irregular, unpredictable,
nonstereotyped actions that are usually bilateral and affect all parts of the body (i.e., face,
trunk, and limbs). The timing, direction, and distribution of movements vary from moment
to moment, and movements usually worsen during attempted voluntary action. Dystonia
is the simultaneous sustained contracture of both agonist and antagonist muscles,
resulting in a distorted posture or movement of parts of the body. Dystonie postures are often
triggered by attempts at voluntary movements and are not seen during sleep.
Substance-induced and paroxysmal dyskinesias. Paroxysmal dyskinesias usually occur
as dystonie or choreoathetoid movements that are precipitated by voluntary movement
or exertion and less commonly arise from normal background activity.
Myoclonus. Myoclonus is characterized by a sudden unidirectional movement that is
often nonrhythmic. It may be worsened by movement and occur during sleep. Myoclonus
is differentiated from tics by its rapidity, lack of suppressibility, and absence of a premonitory
urge.
Obsessive-compulsive and related disorders. Differentiating obsessive-compulsive
behaviors from tics may be difficult. Clues favoring an obsessive-compulsive behavior include
a cognitive-based drive (e.g., fear of contamination) and the need to perform the action
in a particular fashion a certain number of times, equally on both sides of the body, or
until a "just right" feeling is achieved. Impulse-control problems and other repetitive behaviors,
including persistent hair pulling, skin picking, and nail biting, appear more goal
directed and complex than tics.
Comorbidity
Many medical and psychiatric conditions have been described as co-occurring with tic disorders,
with ADHD and obsessive-compulsive and related disorders being particularly common.
The obsessive-compulsive symptoms observed in tic disorder tend to be characterized
by more aggressive symmetry and order symptoms and poorer response topharmacotherapy
with selective serotonin reuptake inhibitors. Children with ADHD may demonstrate disruptive
behavior, social immaturity, and learning difficulties that may interfere with academic
progress and interpersonal relationships and lead to greater impairment than that caused by a
tic disorder. Individuals with tic disorders can also have other movement disorders and other
mental disorders, such as depressive, bipolar, or substance use disorders.
Other Specified Tic Disorder
307.20 (F95.8)
This category applies to presentations in which symptoms characteristic of a tic disorder
that cause clinically significant distress or impairment in social, occupational, or other important
areas of functioning predominate but do not meet the full criteria for a tic disorder
or any of the disorders in the neurodevelopmental disorders diagnostic class. The other
specified tic disorder category is used in situations in which the clinician chooses to communicate
the specific reason that the presentation does not meet the criteria for a tic disorder
or any specific neurodevelopmental disorder. This is done by recording “other specified
tic disorder”followed by the specific reason (e.g., “with onset after age 18 years”).
Unspecified Tic Disorder
307.20 (F95.9)
This category applies to presentations in which symptoms characteristic of a tic disorder
that cause clinically significant distress or impairment in social, occupational, or other important
areas of functioning predominate but do not meet the full criteria for a tic disorder
or for any of the disorders in the neurodevelopmental disorders diagnostic class. The unspecified
tic disorder category is used in situations in which the clinician chooses not to
specify the reason that the criteria are not met for a tic disorder or for a specific neurodevelopmental
disorder, and includes presentations in which there is insufficient information
to make a more specific diagnosis.
Other Neurodevelopmental Disorders
Other Specified Neurodevelopmental Disorder
315.8 (F88)
This category applies to presentations in which symptoms characteristic of a neurodevelopmental
disorder that cause impairment in social, occupational, or other important areas
of functioning predominate but do not meet the full criteria for any of the disorders in the
neurodevelopmental disorders diagnostic class. The other specified neurodevelopmental
disorder category is used in situations in which the clinician chooses to communicate the
specific reason that the presentation does not meet the criteria for any specific neurodevelopmental
disorder. This is done by recording “other specified neurodevelopmental disorder”followed
by the specific reason (e.g., “neurodevelopmental disorder associated with
prenatal alcohol exposure”).
An example of a presentation that can be specified using the “other specified” designation
is the following:
Neurodevelopmental disorder associated with prenatal alcohol exposure: Neurodevelopmental
disorder associated with prenatal alcohol exposure is characterized
by a range of developmental disabilities following exposure to alcohol in utero.
Unspecified Neurodevelopmental Disorder
315.9 (F89)
This category applies to presentations in which symptoms characteristic of a neurodevelopmental
disorder that cause impairment in social, occupational, or other important areas
of functioning predominate but do not meet the full criteria for any of the disorders in the
neurodevelopmental disorders diagnostic class. The unspecified neurodevelopmental disorder
category is used insituations inwhich the clinician chooses not to specify the reason
that the criteria are not met for a specific neurodevelopmental disorder, and includes presentations
in which there is insufficient information to make a more specific diagnosis
(e.g., in emergency room settings).