PdF:SP2770 Genetics of syndrome defects - Course Information
SP2770 Genetics of syndrome defects
Faculty of EducationAutumn 2023
- Extent and Intensity
- 1/0/0. 3 credit(s). Type of Completion: zk (examination).
- Teacher(s)
- doc. PhDr. Ilona Bytešníková, Ph.D. (lecturer)
MUDr. Renata Gaillyová, Ph.D. (lecturer)
PhDr. Radka Horáková, Ph.D. (lecturer)
Mgr. Radka Florianová (seminar tutor) - Guaranteed by
- doc. PhDr. Ilona Bytešníková, Ph.D.
Department of Special and Inclusive Education – Faculty of Education
Contact Person: PhDr. Radka Horáková, Ph.D.
Supplier department: Department of Special and Inclusive Education – Faculty of Education - Timetable
- Fri 27. 10. 8:00–13:50 učebna 5
- Timetable of Seminar Groups:
- Course Enrolment Limitations
- The course is only offered to the students of the study fields the course is directly associated with.
- fields of study / plans the course is directly associated with
- Speech and Language Therapy (programme PdF, N-LOG) (2)
- Course objectives
- Learning outcomes of the course is to acquaint students with basic concepts of genetics, with the principle of transmission of genetically or inherited disorders / defects / syndromes. Students will be acquainted with specific syndromic diseases, which are caused by difficulties in hearing and visual perception or communication.
- Learning outcomes
- Orientation in basic concepts of genetics, knowledge of basic types of inheritances and genes that cause hearing or visual impairment, knowledge of selected syndromic diseases.
- Syllabus
- Genetics.
- Mutations - (genomic), chromosomal, gene.
- Basic types of inheritance - monogenic, polygenic.
- Syndromes:
- Velocardiopathic syndrome
- Prader-Willi syndrome
- Landau-Kleffner syndrome
- Down syndrome
- Asperger syndrome
- Turner syndrome
- Usher syndrome
- CHARGE Association
- Treacher-Collins syndrome
- Goldenhar syndrome
- Alport syndrome
- Pendred syndrome
- Wardenburg syndrome
- Neurofibromatosis
- Enlarged vestibular aqueduct (EVA)
- and other selected syndrome defects.
- Literature
- required literature
- DRŠATA, Jakub and Radan HAVLÍK. Foniatrie - sluch. Edited by Viktor Chrobok. 1. vydání. Havlíčkův Brod: Tobiáš, 2015, 374 stran. ISBN 9788073111595. info
- DLOUHÁ, Olga and Libor ČERNÝ. Foniatrie. 1. vyd. Praha: Karolinum, 2012, 152 s. ISBN 9788024620480. info
- KOČÁREK, Eduard. Genetika : obecná genetika a cytogenetika, molekulární biologie, biotechnologie, genomika. Illustrated by Jan Maget. 2. vydání. Praha: Scientia, 2008, 211 stran. ISBN 9788086960364. info
- recommended literature
- FITZPATRICK, M. Elizabeth a Suzanne P. DOUCET (2013) Pediatric audiologic rehabilitation: from infancy to adolescence, New York: Thieme
- GIFFORD, H. René (2013) Cochlear implant patient assessment: evaluation of candidacy, performance, and outcomes, San Diego: Plural Pub., Inc.
- Comprehensive handbook of pediatric audiology. Edited by Richard C. Seewald - Anne Marie Tharpe. San Diego: Plural Pub., Inc., 2011, xix, 833. ISBN 9781597562454. info
- Pediatric audiology casebook. Edited by Jane Reger Madell - Carol Ann Flexer. New York: Thieme, 2011, xvi, 280. ISBN 9781604063844. info
- EASTERBROOKS, Susan R. and Ellen L. ESTES. Helping deaf and hard of hearing students to use spoken language : a guide for educators and families. Edited by Mary Ellen Nevins. Thousand Oaks: Corwin Press, 2007, xvii, 205. ISBN 9781412927338. info
- Teaching methods
- Lecture, discussion, homework.
- Assessment methods
- Written test (it is necessary to successfully cope with 75% correct answers)
- Language of instruction
- Czech
- Further comments (probably available only in Czech)
- Study Materials
The course is taught annually.
Information on the extent and intensity of the course: 1 blok pro kombinované studium.
- Enrolment Statistics (Autumn 2023, recent)
- Permalink: https://is.muni.cz/course/ped/autumn2023/SP2770