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.
Evaluation of Family History of Permanent Hearing Loss in Childhood as a Risk Indicator in Universal Screening
 
  Keywords
 
 
  
   Risk factor
  
 
 
  
   Early detection
  
 
 
  
   Hereditary hearing loss
  
 
Abstract
 Introduction and objective
Sixty percent of <dis>prelingual hearing loss</dis> is of genetic origin.
A family history of <dis>permanent childhood hearing loss</dis> is a risk factor.
The objective of the study is to determine the relationship between this risk factor and <dis>hearing loss</dis>.
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 <dis>hearing loss</dis> 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 <dis>hearing loss</dis> except heart disease.
Seventy-six point four percent had normal hearing and 23.6% <dis>hearing loss</dis>.
The mean of family members with <dis>hearing loss</dis> 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 <dis>hearing loss</dis> and mutated allele.
Conclusions
The percentage of children with a family history and <dis>hearing loss</dis> is higher than expected in the general population.
The genetic profile requires updating to clarify the relationship between <dis>hearing loss</dis> and heart disease, family history and the low prevalence in the mutations analyzed.
Abstract
 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.
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 <dis>hearing loss</dis> and mutated allele.
hearing loss
DISABILITY