Usher syndrome and cochlear implantation.
OBJECTIVE
To evaluate the symptoms leading to diagnosis and the quality of rehabilitation after cochlear implantation in Usher syndrome.


METHODS
Retrospective cohort study.


METHODS
ENT department of a tertiary referral hospital.


METHODS
Among 210 patients given an implantation in the Ear, Nose, and Throat department, 185 were congenitally deaf and 13 had Usher syndrome (7.0%). Five had a family history of Usher, and eight were sporadic cases. Eleven cases were Usher type I, one was Usher type III, and one was not classified. The age at implantation ranged from 18 months to 44 years (mean, 6 years 1 month). The mean follow-up was 52 months (range, 9 months to 9 years).


METHODS
All patients had audiophonological and clinical examination, computed tomography scan of the temporal bones, ophthalmologic examination with fundoscopy, and an electroretinogram. Cerebral magnetic resonance imaging and vestibular examination were performed in 9 of 13 and 10 of 13 cases, respectively. Logopedic outcome measured preimplant and postimplant closed- and open-set word recognition and oral expression at follow-up.


RESULTS
The most frequent initial sign of Usher syndrome was delayed walking, with a mean age of 20 months. Among the 172 other congenitally deaf children with implants, when deafness was not associated with other neurologic disorders, the mean age at walking was 14 months (p < 0.001). The fundoscopy was always abnormal after the age of 5 years, and the electroretinogram was abnormal in all cases. Vestibular function was abnormal in all but one case (nonclassified). The computed tomography scan and the magnetic resonance imaging were always normal. Logopedic results with cochlear implants showed good perception skills in all but one case. The best perceptive results were obtained in children implanted before the age of 9 years. Oral language had significantly progressed in 9 of 13 at follow-up. There was no relation between the visual acuity and the logopedic results.


CONCLUSIONS
The earliest clinical sign associated with deafness evoking Usher syndrome is late walking. The electroretinogram is the only reliable examination to enable the diagnosis. When severe profound deafness is associated with late walking, the electroretinogram should be systematically proposed. Logopedic results are linked to precocity of implantation, and early Usher's diagnosis contributes to optimize speech therapy.
Loundon
Natalie
N
Service d'Otorhinolaryngologie et de chirurgie cervico-faciale, Hôpital d'enfants Armand-Trousseau, Paris, France. loundon.moatti@trs.ap-hop-paris.fr
Marlin
Sandrine
S
Busquet
Denise
D
Denoyelle
Françoise
F
Roger
Gilles
G
Renaud
Francis
F
Garabedian
Erea Noel
EN
D000367:Age Factors; D002675:Child, Preschool; D019929:Cochlear Implantation / Q000295:instrumentation; D015331:Cohort Studies; D004596:Electroretinography; D004867:Equipment Design; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000601:surgery*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009069:Movement Disorders / Q000150:complications; D012174:Retinitis Pigmentosa / Q000150:complications*; D012189:Retrospective Studies; D013064:Speech Disorders / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D013067:Speech Perception / Q000502:physiology; D013068:Speech Production Measurement; D013070:Speech Therapy; D013577:Syndrome; D016138:Walking