Bardet-Biedl Syndrome
Authors:
E. Škodová 1; B. Kratochvílová 2
Authors‘ workplace:
Foniatrická klinika 1. LF UK a VFN, Praha
1; ORL klinika 3. LF UK a ÚVN - Vojenská fakultní nemocnice, Praha
2
Published in:
Otorinolaryngol Foniatr, 61, 2012, No. 4, pp. 261-268.
Category:
Case Reports
Overview
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.
Sources
1. Beatles, P., Elcioglu, N., Wolf, A., Parker, D., Flinter, F.: New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J. Med. Genet., 36,1999, s. 437-446, http://mlmorris.com/lmbbs/437.htm.
2. James, R., Bradley, K.: An incredible decade for the primary cilium: look at a once-forgotten organele. American Journal of Physiology Renal Physiology, 286, 2005, 6, s. 1159-1169, http://ajprenal.physiology.org/content/289/6.
3. Norann, A., Katsanis, Z. N.: Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. The Journal of Clinical Investigation, 119, 2009, 3, s. 428-437, http://www. ncbi.nlm.nih.gov/pmc/articles/PMC2648685/.
4. Waters, A., Beales, P.: Bardet-Biedl syndrome. GeneReviews: University of Washington, Seattle, 2003, Jul 14, updated 2011 Sep. 29, http://www.ncbi.nlm.nih.gov/books/ NBK1363/.
Labels
Audiology Paediatric ENT ENT (Otorhinolaryngology)Article was published in
Otorhinolaryngology and Phoniatrics
2012 Issue 4
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