Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients
| Autor: | Meral Gunay-Aygun, William A. Gahl, Hung Jeffrey Kim, Kelly A. King, Juergen K Naggert, Jan D. Marshall, Joy Bryant, Carmen C. Brewer, Spencer Lindsey, Olga Stakhovskaya, Chris Zalewski |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Retinal degeneration Adult Male medicine.medical_specialty Adolescent Hearing loss Cardiomyopathy Cell Cycle Proteins Audiology Deafness Article Lesion 03 medical and health sciences Young Adult 0302 clinical medicine Genetics medicine otorhinolaryngologic diseases Humans 030223 otorhinolaryngology Child Hearing Loss Genetics (clinical) Alstrom Syndrome Diagnostic Techniques Otological business.industry Infant Proteins Auditory Threshold Audiogram medicine.disease Cochlea 030104 developmental biology medicine.anatomical_structure Acoustic Impedance Tests Child Preschool Audiometry Pure-Tone Sensorineural hearing loss Female Hair cell medicine.symptom business Alström syndrome |
| Zdroj: | American journal of medical genetics. Part A. 173(8) |
| ISSN: | 1552-4833 |
| Popis: | Alström syndrome is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, and cardiomyopathy. Here we comprehensively characterize the auditory and otologic manifestations in a prospective case series of 38 individuals, aged 1.7-37.9 years, with genetically confirmed Alström syndrome. Hearing loss was preceded by retinal dystrophy in all cases, and had an average age of detection of 7.45 years (range 1.5-15). Audiometric assessments showed mean pure tone averages (0.5, 1, 2, 4 kHz) of 48.6 and 47.5 dB HL in the right and left ears, respectively. Hearing was within normal limits for only 8/74 ears (11%). For the 66 ears with hearing loss, the degree was mild (12%), moderate (54%), or severe (8%). Type of hearing loss was predominantly sensorineural (77%), while three ears had mixed loss, no ears had conductive loss, and type of hearing loss was indeterminate for the remaining 12 ears. Serial audiograms available for 33 patients showed hearing loss progression of approximately 10-15 dB/decade. Our data show that hearing loss associated with Alström syndrome begins in childhood and is a predominantly symmetric, sensory hearing loss that may progress to a severe degree. Absent otoacoustic emissions, intact speech discrimination, and disproportionately normal auditory brainstem responses suggest an outer hair cell site of lesion. These findings indicate that individuals with Alström syndrome would benefit from sound amplification and if necessary, cochlear implantation. |
| Databáze: | OpenAIRE |
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