SPkK72 Genetics of syndrome defects

Faculty of Education
Autumn 2019
Extent and Intensity
0/0/.5. 3 credit(s). Type of Completion: zk (examination).
Teacher(s)
PhDr. Radka Horáková, Ph.D. (lecturer)
Mgr. Ivo Papoušek, Ph.D. (lecturer)
PhDr. Lenka Vrbecká Doležalová, Ph.D. (lecturer)
Guaranteed by
PhDr. Radka Horáková, Ph.D.
Department of Special and Inclusive Education – Faculty of Education
Contact Person: PhDr. Mgr. Ilona Fialová, Ph.D.
Supplier department: Department of Special and Inclusive Education – Faculty of Education
Timetable
Fri 6. 12. 8:00–13:50 učebna 51
Course Enrolment Limitations
The course is also offered to the students of the fields other than those the course is directly associated with.
fields of study / plans the course is directly associated with
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
  • Comprehensive handbook of pediatric audiology. Edited by Richard C. Seewald - Anne Marie Tharpe. San Diego: Plural Pub., Inc., 2011, xix, 833. ISBN 9781597562454. 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
  • GIFFORD, H. René (2013) Cochlear implant patient assessment: evaluation of candidacy, performance, and outcomes, San Diego: Plural Pub., Inc.
  • FITZPATRICK, M. Elizabeth a Suzanne P. DOUCET (2013) Pediatric audiologic rehabilitation: from infancy to adolescence, New York: Thieme
  • 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: 6 hodin.
The course is also listed under the following terms autumn 2020.
  • Enrolment Statistics (Autumn 2019, recent)
  • Permalink: https://is.muni.cz/course/ped/autumn2019/SPkK72