Bardet-Biedl Syndrome

Česká verzia

Authors: E. Škodová ¹; B. Kratochvílová ²
Authors place of work: Foniatrická klinika 1. LF UK a VFN, Praha ¹; ORL klinika 3. LF UK a ÚVN - Vojenská fakultní nemocnice, Praha ²
Published in the journal: Otorinolaryngol Foniatr, 61, 2012, No. 4, pp. 261-268.
Category: Case Reports

Summary

In the phoniatrics we encounter various genetically determined syndromes of retarded development of speech associated with insufficient intellectual powers including light, medium or severe mental retardation. Down syndrome (incidence 1:700-800) belongs to the most frequent syndromes associated with mental retardation. The paper presents a case report of genetically determined ciliopathy - Bardet-Biedl syndrome (BBS), where the symptoms include mental retardation. At the same time the authors draw attention to the possibility of retarded development of speech in the narrow sense of word combined with symptomatically retarded speech development in mental retardation. Last but not least, conclusions of the necessary quality and complex psychological examination are a prerequisite for the choice of therapeutic methods by a clinical logopedic specialist and consequently the quality of development of the child’s communication abilities.

Key words:
Bardet-Biedl syndrome, mental retardation, retarded development of speech, primary cilia.

Zdroje

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