title: Audiologic findings in children with biotinidase deficiency in Turkey.
abstract: OBJECTIVE
  Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous features, including sensorineural hearing loss. Although many features of the disorder are reversible following treatment with biotin, the hearing loss appears to be irreversible. In the present study, hearing status of patients with biotinidase deficiency is characterized in a Turkish population.
  
  
  METHODS
  Subjective and objective audiologic tests were performed on 20 children with profound biotinidase deficiency.
  
  
  RESULTS
  Sensorineural hearing loss occurs in approximately 55% of the children with biotinidase deficiency. The hearing loss varies in severity from mild to profound hearing loss. In children diagnosed immediately after birth because they had an older sibling with the disorder, statistically significant differences were found between ABR results and age of diagnosis (p<0.05). Greater prolongation in ABR latencies were observed in the late-diagnosed children compared to that in the early-diagnosed children (p<0.05).
  
  
  CONCLUSIONS
  Early diagnosis is important to prevent peripheral and central hearing loss. Children with biotinidase deficiency who have hearing loss are likely at increased risk for having speech and language problems. If hearing aids do not provide sufficient amplification, cochlear implantation may be indicated in these children. Therefore, it is important to test the hearing thresholds of these children with hearing aids and evaluate their language development.
authors.affiliation: Department of Ear Nose and Throat and Head and Neck Surgery, Section of Audiology, Hacettepe University Faculty of Medicine, Ankara, Turkey. aydangenc@gmail.com
authors.forename: G A
authors.initials: GA
authors.lastname: Genc
authors.forename: H S
authors.initials: HS
authors.lastname: Sivri-Kalkanoğlu
authors.forename: A
authors.initials: A
authors.lastname: Dursun
authors.forename: H I
authors.initials: HI
authors.lastname: Aydin
authors.forename: A
authors.initials: A
authors.lastname: Tokatli
authors.forename: L
authors.initials: L
authors.lastname: Sennaroglu
authors.forename: E
authors.initials: E
authors.lastname: Belgin
authors.forename: B
authors.initials: B
authors.lastname: Wolf
authors.forename: T
authors.initials: T
authors.lastname: Coşkun
mesh_terms: D000293:Adolescent; D028921:Biotinidase Deficiency / Q000097:blood / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology*; D006320:Hearing Tests; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D014421:Turkey