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Audiological Follow-Up of Children with the m.1555A>G Mutation in Mitochondrial DNA.
MedLine Citation:
PMID:  23052064     Owner:  NLM     Status:  Publisher    
The age at onset and the severity of hearing impairment (HI) varies widely among subjects and within families with the m.1555A>G mutation in mitochondrial DNA. We examined prospectively the hearing of 19 children in three nuclear families of a pedigree with m.1555A>G during a period of 7.8 years. The children underwent an audiological examination annually. At the end of the follow-up, the children were 2-13 years old. The parents were asked about the exposure of the children to risk factors of HI. We found that the 19 children with m.1555A>G were born with normal hearing and that 10 of them had developed HI by the end of the follow-up. High frequencies were affected first. The median age at the onset of HI was 3.7 years. Both the severity of HI and the age of onset varied within and between families. Most commonly, audiograms revealed a sensorineural, progressive HI sloping towards high frequencies. We could not identify environmental factors which could modify the development of HI. In conclusion, we were able to pinpoint the time of onset of HI and to follow the progression of HI in childhood. Our results show that there are distinct phenotypes, but at present there are no means to predict which phenotype will develop. It is important to follow up the hearing of children in families with the m.1555A>G mutation, because these children generally pass the newborn hearing screening, and the age at onset or the phenotype of HI cannot be predicted.
Sanna Häkli; Mirja Luotonen; Martti Sorri; Kari Majamaa
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-10
Journal Detail:
Title:  Audiology & neuro-otology     Volume:  18     ISSN:  1421-9700     ISO Abbreviation:  Audiol. Neurootol.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-11     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9606930     Medline TA:  Audiol Neurootol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  23-30     Citation Subset:  -    
Copyright Information:
Copyright © 2012 S. Karger AG, Basel.
Department of Otorhinolaryngology, Oulu University Hospital, Oulu, Finland.
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