Hearing loss and cochlear implantation in Chudley McCullough syndrome: A case series

CMS was often diagnosed relatively late during childhood, and sometimes hearing loss was the first apparent symptom. Hearing loss was found to be progressive, often not detected shortly after birth and often complicated by ANSD. Cochlear implantation emerged as the optimal treatment, demonstrating superiority over hearing aid rehabilitation to improve hearing performance. Auditory and speech-language development outcomes remained poorer than in children with CI and without CMS. Based on these results, we advocate considering cochlear implantation early for children who have CMS and hearing loss.

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Publication Details

Journal
Cochlear Implants International
Published
2026-01-02
DOI
https://doi.org/10.1080/14670100.2025.2607227
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
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article

Hearing loss and cochlear implantation in Chudley McCullough syndrome: A case series

Fenna A. Ebbens, Ralf A. Boerboom, Paul MERKUS, Adriana Leni Smit et al.
Cochlear Implants International
Glycogen Storage Diseases and Myoclonus
article

Hearing loss and cochlear implantation in Chudley McCullough syndrome: A case series

Fenna A. Ebbens, Ralf A. Boerboom, Paul MERKUS, Adriana Leni Smit, Sabine Engels, Cas Smits
article en

Abstract

CMS was often diagnosed relatively late during childhood, and sometimes hearing loss was the first apparent symptom. Hearing loss was found to be progressive, often not detected shortly after birth and often complicated by ANSD. Cochlear implantation emerged as the optimal treatment, demonstrating superiority over hearing aid rehabilitation to improve hearing performance. Auditory and speech-language development outcomes remained poorer than in children with CI and without CMS. Based on these results, we advocate considering cochlear implantation early for children who have CMS and hearing loss.

Cochlear Implants InternationalVol. 27(1)
University Medical Center Utrecht (NL), Amsterdam University Medical Centers (NL), Vrije Universiteit Amsterdam (NL), University of Amsterdam (NL)
No poverty
Openalex Percentile: Top 95%
Glycogen Storage Diseases and Myoclonus
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Hearing loss and cochlear implantation in Chudley McCullough syndrome: A case series — Fenna A. Ebbens, Ralf A. Boerboom, et al. · Cochlear Implants International (2026) | TGRS Research Map | TGRS