Roesch, Sebastian and O'Sullivan, Anna and Tschani, Stefan and Baghdasaryan, Anna and Balasubramaniam, Shanti and Baric, Ivo and de Boer, Lonneke and Grunert, Sarah C. and Guzek, Anna and Janssen, Mirian and Krumina, Zita and Koenig, Mary Kay and Lewkowitz, Ashleigh M. and Mochel, Fanny and Naldi, Arianne Monge and Plecko, Barbara and Ozturk, Kerem and O'Grady, Lauren and Riordan, Gillian and Rymen, Daisy and Sahai, Inderneel and Santer, Rene and Schiff, Manuel and Stettner, Georg M. and Tsiakas, Konstantinos and Ucar, Sema Kalkan and Uzun, Ozlem Unal and Weigel, Corina and Witters, Peter and Merkevicius, Kajus and Mayr, Johannes A. and Wortmann, Saskia B. and Iwanicka-Pronicka, Katarzyna (2025) Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome-implications from a multi-center retrospective cohort study. MOLECULAR GENETICS AND METABOLISM, 146 (1-2): 109193. ISSN 1096-7192, 1096-7206
Full text not available from this repository. (Request a copy)Abstract
Objective: 3-methylglutaconic aciduria (MEG), dystonia-deafness (D), (hepatopathy (H)), encephalopathy (E), and Leigh-like-syndrome (L) (MEGD(H)EL) syndrome is a rare, severely disabling progressive mitochondrial disease associated with biallelic pathogenic variants in SERAC1. Knowledge about hearing loss (HL) and hearing rehabilitation is scarce but highly sought after for best possible care in the absence of causative treatment. Methods: Retrospective cross-sectional study. Results: This study analyzed the audiometric data of 36 MEGD(H)EL patients (14 unpublished). Bilateral HL was diagnosed in 31 individuals (86 %). Detailed audiometric data, available for 23 of 31 patients, did not allow for general statements on site and degree of HL. HL was mostly congenital (n = 14/31), pre-lingual in six and post-lingual in nine cases (median age 2 years, n = 15/31; age unknown in n = 2). In four of the five patients without HL, the severity of the other clinical-neurological symptoms was milder and less progressive, and their onset was significantly later than in the patients with HL. Five of 36 patients acquired spoken language, these were 4 of the 5 individuals without and one with HL. Twenty-two individuals received hearing rehabilitation with conventional hearing aids, followed by cochlear implant (CI) surgery in six. One of these six individuals acquired spoken language, which lessened in clarity as disease progressed. Conclusions: Congenital HL represents a ubiquitous symptom in severe types of MEGD(H)EL syndrome, being absent in late onset milder forms. Regularly, severely affected MEGD(H)EL patients do not achieve spoken language, even with CI. Hence, hearing rehabilitation with CIs needs to be discussed very critically.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | COCHLEAR IMPLANTS; DYSTONIA; MUTATIONS; CHILDREN; Mitochondrial disease; Inborn metabolic disease; Hearing loss; Deafness; Cochlear implant; Hearing aids; Treatment |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Hals-Nasen-Ohren-Heilkunde |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 31 Mar 2026 12:15 |
| Last Modified: | 31 Mar 2026 12:15 |
| URI: | https://pred.uni-regensburg.de/id/eprint/67806 |
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