[Etiological diagnosis of sensorineural deafness in children: a year-long review of genetic counseling for deaf people].
From February 1996 to January 1997, 74 patients from 53 sibships underwent genetic counselling for sensorineural deafness at the Pasteur Hospital, Paris, France. Genetic counselling was based on the etiological diagnosis of the hearing impairment, by an audiological and non-audiological examination program. At the first examination, 31 families presented with a familial deafness and 22 families with apparently one affected individual. However, familial audiological examinations revealed familial deafness in 5 of these 22 families. Consequently, a total of 36 families had hereditary hearing impairment and the etiological groups showed the following distribution: non-syndromic deafness (14 families), syndromic deafness (12 families), probable syndromic deafness (5 families), and incomplete assessment (5 families). Out of the remaining 17 families in which affected individuals were sporadic cases, the etiological groups were as follows: acquired deafness (2 families), probable syndromic deafness (5 families), unknown cause (5 families), and incomplete assessment (5 families). Etiological assessment is discussed, with reference to the cost-effectiveness of this examination program. In light of this preliminary report, we present a model of assessment for the etiological diagnosis of sensorineural deafness in children and young adults.
Hôpital Pasteur, Paris.
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Marlin
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Denoyelle
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EN
Garabédian
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Petit
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies
Diagnostic étiologique des surdités de perception de l'enfant. Bilan d'un an de consultation de Conseil Génétique des Surdités.