Evaluación de la historia familiar de hipoacusia permanente en la infancia como factor de riesgo en el cribado universal / Evaluation of family history of permanent hearing loss in childhood as a risk indicator in universal screening

Introducción y objetivo: El 60% de las hipoacusias prelinguales tienen un origen genético. Entre los factores de riesgo se encuentra el antecedente familiar de hipoacusia permanente en la infancia. El objetivo del estudio es conocer la relación entre este factor de riesgo y la hipoacusia, evaluándose características clínico-epidemiológicas y si existe variación genética no sindrómica relacionada. Material y método: Estudio retrospectivo, transversal, descriptivo y observacional de los recién nacidos entre enero de 2007 y diciembre de 2010 con factor de riesgo de antecedente familiar de hipoacusia mediante otoemisiones acústicas provocadas transitorias y potenciales evocados auditivos de tronco cerebral. Resultados: Nacieron 26.717 niños. Ochocientos cincuenta y siete (3,2%) tenían antecedente familiar. Cincuenta y siete (0,21%) no pasan segundas otoemisiones. Un 29,1% (n=16) tenían otro antecedente de riesgo añadido. Un 17,8% (n=9) tenían factor de riesgo no clásico. Ningún factor de riesgo tenía relación con la hipoacusia, excepto la cardiopatía. Según potenciales, el 76,4% tenían normoaudición y el 23,6%, hipoacusia. La media de familiares hipoacúsicos es de 1,25. En test genéticos el 82,86% son homocigosis normal, el 11,43% heterocigosis para mutación 35delG del gen de la Conexina 26, el 2,86% heterocigosis R143W del mismo gen y el 2,86% homocigosis mutante 35delG. No se encuentra relación entre hipoacusia y tener un alelo mutado. Conclusiones: El porcentaje de niños con antecedente familiar diagnosticado de hipoacusia es superior a lo esperado en la población general. Es necesaria la actualización del perfil genético para esclarecer la relación encontrada entre hipoacusia con cardiopatía, el número de familiares afectos y la baja prevalencia en las mutaciones analizadas (AU)

Introduction and objective: Sixty percent of prelingual hearing loss is of genetic origin. A family history of permanent childhood hearing loss is a risk factor. The objective of the study is to determine the relationship between this risk factor and hearing loss. We have evaluated clinical and epidemiological characteristics and related nonsyndromic genetic variation. Material and method: This was a retrospective, descriptive and observational study of newborns between January 2007 and December 2010 with family history as risk factor for hearing loss using transient evoked otoacoustic emissions and auditory brainstem response. Results: A total of 26,717 children were born. Eight hundred and fifty-seven (3.2%) had family history. Fifty-seven(0.21%) failed to pass the second test. A percentage of 29.1 (n=16) had another risk factor, and 17.8% (n=9) had no classical risk factor. No risk factor was related to the hearing loss except heart disease. Seventy-six point four percent had normal hearing and 23.6% hearing loss. The mean of family members with hearing loss was 1.25. On genetic testing, 82.86% of homozygotes was normal, 11.43% heterozygosity in Connexin 26 gene (35delG), 2.86% R143W heterozygosity in the same gene and 2.86% mutant homozygotes (35delG). We found no relationship between hearing loss and mutated allele. Conclusions: The percentage of children with a family history and hearing loss is higher than expected in the general population. The genetic profile requires updating to clarify the relationship between hearing loss and heart disease, family history and the low prevalence in the mutations analyzed (AU)

Evaluation of family history of permanent hearing loss in childhood as a risk indicator in universal screening. / Evaluación de la historia familiar de hipoacusia permanente en la infancia como factor de riesgo en el cribado universal.

INTRODUCTION AND OBJECTIVE: Sixty percent of prelingual hearing loss is of genetic origin. A family history of permanent childhood hearing loss is a risk factor. The objective of the study is to determine the relationship between this risk factor and hearing loss. We have evaluated clinical and epidemiological characteristics and related nonsyndromic genetic variation. MATERIAL AND METHOD: This was a retrospective, descriptive and observational study of newborns between January 2007 and December 2010 with family history as risk factor for hearing loss using transient evoked otoacoustic emissions and auditory brainstem response. RESULTS: A total of 26,717 children were born. Eight hundred and fifty-seven (3.2%) had family history. Fifty-seven(0.21%) failed to pass the second test. A percentage of 29.1 (n=16) had another risk factor, and 17.8% (n=9) had no classical risk factor. No risk factor was related to the hearing loss except heart disease. Seventy-six point four percent had normal hearing and 23.6% hearing loss. The mean of family members with hearing loss was 1.25. On genetic testing, 82.86% of homozygotes was normal, 11.43% heterozygosity in Connexin 26 gene (35delG), 2.86% R143W heterozygosity in the same gene and 2.86% mutant homozygotes (35delG). We found no relationship between hearing loss and mutated allele. CONCLUSIONS: The percentage of children with a family history and hearing loss is higher than expected in the general population. The genetic profile requires updating to clarify the relationship between hearing loss and heart disease, family history and the low prevalence in the mutations analyzed.