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Hearing impairment in genotyped Wolfram syndrome patients
- Source :
- Annals of Otology, Rhinology and Laryngology, 117, 7, pp. 494-500, Annals of Otology, Rhinology and Laryngology, 117, 494-500
- Publication Year :
- 2008
-
Abstract
- Objectives: Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features “DIDMOAD” (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment. Methods: Pure tone threshold data of 23 Wolfram syndrome patients were used for cross-sectional analysis in subgroups (age less than 16 years or between 19 and 25 years, gender, and origin). Results: All subgroups, with 1 exception, showed a fairly similar type of hearing impairment with, on average, thresholds of about 25 dB (range, 0 to 65 dB) at 0.25 to 1 kHz, gently sloping downward to about 60 dB (range, 25 to 95 dB) at 8 kHz. The subgroup of Dutch women, which was excluded from the calculations of the average hearing thresholds, showed a higher degree of hearing impairment. Only the latter subgroup showed progression; however, contrary to the previous longitudinal analysis, progression was not significant in the present cross-sectional analysis, presumably because of the high degree of cross-subject variability. Conclusions: This unique collection of audiometric data from genotyped Wolfram syndrome patients shows no substantial progression in sensorineural hearing impairment with advancing age, no relation to the types of WFS1 mutations identified, and, with exclusion of the subgroup of Dutch female patients, no significant sex-related differences.
- Subjects :
- Adult
Male
medicine.medical_specialty
Adolescent
Wolfram syndrome
Hearing loss
Hearing Loss, Sensorineural
Audiology
Atrophy
Diabetes mellitus
medicine
Perception and Action [DCN 1]
otorhinolaryngologic diseases
Humans
Neurosensory disorders [UMCN 3.3]
Pure tone
business.industry
Alexia, Pure
Wolfram Syndrome
General Medicine
Sensorineural hearing impairment
medicine.disease
Otorhinolaryngology
Diabetes insipidus
Female
medicine.symptom
business
Functional Neurogenomics [DCN 2]
ENDOPLASMIC RETICULUM STRESS
OPTIC ATROPHY
DIABETES MELLITUS
DIDMOAD SYNDROME
WFS1 GENE
TRANSMEMBRANE PROTEIN
BETA CELLS
MUTATIONS
PROGRESSION
DEAFNESS
hearing impairment
sensorineural hearing impairment
Subjects
Details
- ISSN :
- 00034894
- Database :
- OpenAIRE
- Journal :
- Annals of Otology, Rhinology and Laryngology, 117, 7, pp. 494-500, Annals of Otology, Rhinology and Laryngology, 117, 494-500
- Accession number :
- edsair.doi.dedup.....205a40f800b3f8a985415ba65ddf4067