title: Evaluation of family history of permanent hearing loss in childhood as a risk indicator in universal screening.
abstract: 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.
  
  
  METHODS
  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.
authors: Servicio de Otorrinolaringología, Hospital Universitario de Gran Canaria Dr. Negrín, Gran Canaria, Las Palmas, España. Electronic address: mervaquin@hotmail.com.
authors: Mercedes
authors: M
authors: Valido Quintana
authors: Servicio de Otorrinolaringología, Hospital Universitario de Gran Canaria Dr. Negrín, Gran Canaria, Las Palmas, España.
authors: Ángeles
authors: Á
authors: Oviedo Santos
authors: Servicio de Otorrinolaringología, Complejo Hospitalario Universitario Insular Materno Infantil, Gran Canaria, Las Palmas, España.
authors: Silvia
authors: S
authors: Borkoski Barreiro
authors: Servicio de Genética Clínica, Complejo Hospitalario Universitario Insular Materno Infantil, Gran Canaria, Las Palmas, España.
authors: Alfredo
authors: A
authors: Santana Rodríguez
authors: Servicio de Otorrinolaringología, Complejo Hospitalario Universitario Insular Materno Infantil, Gran Canaria, Las Palmas, España.
authors: Ángel
authors: Á
authors: Ramos Macías
mesh_terms: D000483:Alleles; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003430:Cross-Sectional Studies; D016057:Evoked Potentials, Auditory, Brain Stem; D005192:Family Health; D005838:Genotype; D005865:Gestational Age; D034381:Hearing Loss / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D006320:Hearing Tests; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000175:diagnosis / Q000235:genetics; D015997:Neonatal Screening; D017084:Otoacoustic Emissions, Spontaneous; D012189:Retrospective Studies; D012307:Risk Factors
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
keywords: Detección precoz; Early detection; Factor de riesgo; Hereditary hearing loss; Hipoacusia hereditaria; Risk factor