Clinical Insights into Bilateral Cochlear Implantation for a Child with Dominant Deafness-Onychodystrophy Syndrome.
Background: Dominant deafness-onychodystrophy (DDOD) syndrome is a rare genetic disorder characterized by sensorineural hearing loss and the absence or hypoplasia of nails, associated with defects in the ATP6V1B2 gene. This gene defect significantly affects hearing function, leading to congenital se...
| Publicado en: | Journal of the American Academy of Audiology Vol. 36; no. 2; pp. 132 - 137 |
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| Autores principales: | , , , , , |
| Formato: | case study pictorial tables/charts Journal Article |
| Publicado: |
Thieme Medical Publishing Inc.
Mar2025
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=187798812&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 187798812 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10500545 9OC jtl: Journal of the American Academy of Audiology issn: 10500545 maglogo: Y pubinfo: dt: Mar2025 vid: 36 iid: 2 pid: 2811 pub: Thieme Medical Publishing Inc. place: New York, New York artinfo: ui: 187798812 187798812 187798812 10.3766/jaaa.240097 187798812 ppf: 132 ppct: 5 formats: fmt: @attributes: type: P tig: atl: Clinical Insights into Bilateral Cochlear Implantation for a Child with Dominant Deafness-Onychodystrophy Syndrome. aug: au: Kao, Wei-Ting Cheng, Yu-Lin Ho, Pei-Hsuan Chu, Chia-Huei Chen, Pey-Yu Lin, Hung-Ching affil: Department of Otolaryngology--Head and Neck Surgery, MacKay Memorial Hospital, Taipei, Taiwan sug: subj: Cochlear Implant In Infancy and Childhood Hearing Loss, Sensorineural Rehabilitation Hereditary Diseases Nail Diseases Child, Preschool Hearing Screening Reflex, Acoustic Evaluation Limb Deformities, Congenital Language Development Evaluation Child, Preschool: 2-5 years ab: Background: Dominant deafness-onychodystrophy (DDOD) syndrome is a rare genetic disorder characterized by sensorineural hearing loss and the absence or hypoplasia of nails, associated with defects in the ATP6V1B2 gene. This gene defect significantly affects hearing function, leading to congenital severe-to-profound hearing loss. Purpose: We present the comprehensive cochlear implant (CI) outcome of a 5-year-old child with DDOD syndrome who received bilateral sequential CIs at the ages of 1 and 4 years. Research Design: Case study. Data Collection and Analysis: Retrospective chart review of aural-communication and language performance. Results: After the follow-up following the first CI, there was improvement in auditory, language, and cognitive abilities. At 41 months after the first CI, the child received the second CI. Although his language ability still lagged behind, his auditory and communication performance continued to improve after bilateral CI surgery. He obtained 95 percent on the Parents' Evaluation of Aural/Oral Performance of Children scale at the last follow-up. Conclusions: Children with DDOD syndrome (ATP6V1B2 c.1516C > T) receiving bilateral CIs can enhance aural and communication skills. pubtype: Academic Journal doctype: case study pictorial tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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