Aplicación de encuesta epidemiológica en individuos con discapacidad auditiva de las Unidades de Educación Especial del estado Sucre / Application of epidemic survey in individuals with auditory discapacidad of the Units of Special Education of the state Sucre

Para el año 2002 LA World Health Organization (WHO), estimó que aproximadamente unos 250 millones de personas sufrifrían de trastornos auditivos incapacitantes; que dos terceras partes de estas pesonas vivirían en países en vías de desarrollo, y que la mitad de estas pérdidas auditivas podrían ser evitables. Los programas de WHO, (Healthy People 200) iniciados en 1.990, tenían como objetivo fundamental lograr la identificación de pérdidas auditivas severas en niños antes del primer año de edad, sin embargo, los programas de Joint Comittee of Infant Hearing (1.994) fueron mas ambiciosos y redujeron la identificación del problema a los 6 meses de nacido. El propósito de este trabajo es mostrar los resultados de una encuesta epidemiológica aplicada en las Unidades de Educación Especial (UEE) del estado Sucre: Cumaná (UEE Cumaná), Carúpano (UEE Libertador) y Cumanocoa (UEE Cumanacoa y taller de educación especial Cumanacoa). El objetivo funadmental de esta encuesta era el de establecer las posibles causas que originaron el problema en la población de 3 a 25 años de edad que asisten a estos centros educativos, la edad a la cual se realizó el diagnóstico, el grado de perdida auditiva de los mismos, así como las características de su amplificación aural y escolaridad

Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome.

OBJECTIVE: To undertake a comprehensive investigation into the very high incidence of congenital deafness on the Macano peninsula of Margarita Island, Venezuela. METHODS: Numerous visits were made to the isolated island community over a 4-year-period. During these visits, it became apparent that a significant number of individuals complained of problems with hearing and vision. Socioeconomic assessments, family pedigrees and clinical histories were recorded on standard questionnaires. All individuals underwent thorough otolaryngologic and ophthalmologic examinations. Twenty milliliters of peripheral venous blood was obtained from each participant. A genome-wide linkage analysis study was performed. Polymorphic microsatellite markers were amplified by polymerase chain reaction and separated on polyacrylamide gels. An ABI 377XL sequencer was used to separate fragments and LOD scores were calculated by using published software. RESULTS: Twenty-four families were identified, comprising 329 individuals, age range 1-80 years, including 184 children. All families were categorized in the lower two (least affluent) socioeconomic categories. A high incidence of consanguinity was detected. Fifteen individuals (11 adults, 4 children) had profound congenital sensorineural hearing loss, vestibular areflexia and retinitis pigmentosa. A maximum LOD score of 6.76 (Linkage >3.0), between markers D11s4186 and D11s911, confirmed linkage to chromosome 11q13.5. The gene myosin VIIA (MYO7A) was confirmed in the interval. Clinical and genetic findings are consistent with a diagnosis of Usher syndrome 1B for those with hearing and vision problems. CONCLUSIONS: We report 15 Usher syndrome 1B individuals from a newly detected Latin American socio-demographic origin, with a very high prevalence of 76 per 100,000 population.