2012, Number 6
Waardenburg's syndrome: disabilities and physical features, association with academic achievement and social relations
Language: Spanish
References: 9
Page: 15-23
PDF size: 116.55 Kb.
ABSTRACT
Introduction: Waardenburg's syndrome is a rare entity, having a certain degree of disability when sensorineural hypoacusis and visual disability appear. A family of 26 carriers (all them alive) of Waardenburg's syndrome who lives in Sandino municipality, Pinar del Rio province was detected.Objective: to determine the possible association of disabilities with academic achievement and social relations among these subjects.
Material and method: an observational, cross-sectional and descriptive case-study was carried out with people belonging to a family suffering from Waardenburg's syndrome in Sandino municipality.
Results: this research incorporates important aspects of Waardenburg's syndrome not previously described; which offer the possibility of showing them in a new way to improve and update knowledge of this entity.
Conclusions: hearing disabilities together with physical features were the main difficulties to find a job and to perform it efficiently in people suffering from Waardenburg's syndrome.
REFERENCES
Casas Idárraga DA, Linares Rincón MS, Lemos Hoyos M, Restrepo Ochoa DA. Depresión y ansiedad en personas con deficiencia auditiva: revisión de literatura. Revista Virtual Universidad Católica del Norte. [Internet]. 2009 sept-dic [citado 20 Ene 2010]; 28: [Aprox. 15p.]. Disponible en:http://redalyc.uaemex.mx/redalyc/pdf/1942/194214468012.pdf
Farrer LA, Grundfest KM, Amos J, Arnos KS, Asher JH, Beighton P, et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet [Internet]. 1992 [citado 26 Abr 2009]; 50: [Aprox. 5p.]. Disponible en:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682585/pdf/ajhg00076-0021.pdf