Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study

Roesch S, O'Sullivan A, Tschani S, Baghdasaryan A, Balasubramaniam S, Barić I, de Boer L, Grünert SC, Guzek A, Janssen M, Krumina Z, Koenig MK, Lewkowitz AM, Mochel F, Naldi AM, Plecko B, Öztürk K, O'Grady L, Riordan G, Rymen D, Sahai I, Santer R, Schiff M, Stettner GM, Tsiakas K, Uçar SK, Uzun ÖÜ, Weigel C, Witters P, Merkevicius K, Mayr JA, Wortmann SB, Iwanicka-Pronicka K (2025)

Publication Type: Journal article

Publication year: 2025

Journal

Book Volume: 146

Article Number: 109193

Journal Issue: 1-2

DOI: 10.1016/j.ymgme.2025.109193

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 Results: This study analyzed the audiometric data of 36 MEGD(H)EL patients (14 unpublished).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.

Authors with CRIS profile

Involved external institutions

Universitäts-Kinderspital Zürich Switzerland (CH) Massachusetts General Hospital United States (USA) (US) Red Cross War Memorial Children’s Hospital South Africa (ZA) Kocaeli Üniversitesi Turkey (TR) University Hospital Leuven (UZ) / Universitaire ziekenhuizen Leuven Belgium (BE) Universitätsklinikum Hamburg-Eppendorf (UKE) Germany (DE) Hôpital Necker-Enfants malades France (FR) Vilnius University / Vilniaus universitetas Lithuania (LT) Universitätskliniken Salzburg Austria (AT) Children's Memorial Health Institute / Instytut "Pomnik - Centrum Zdrowia Dziecka" Poland (PL) Universitätsklinikum Regensburg Germany (DE) Paracelsus Medizinische Privatuniversität Austria (AT) Medizinische Universität Graz Austria (AT) The Children's Hospital at Westmead Australia (AU) Zagreb University Hospital Centre / Klinički bolnički centar Zagreb (KBC) Croatia (HR) Radboud University Nijmegen Medical Centre / Radboudumc of voluit Radboud Universitair Medisch Centrum (UMC) Netherlands (NL) Universitätsklinikum Freiburg Germany (DE) Rīga Stradiņš University Latvia (LV) University of Texas Health Science Center at Houston (UTHealth) United States (USA) (US) Boston Children's Hospital United States (USA) (US) Pitié-Salpêtrière University Hospital / Hôpital universitaire Pitié-Salpêtrière France (FR) Ege University / Ege Üniversitesi Turkey (TR)

How to cite

APA:

Roesch, S., O'Sullivan, A., Tschani, S., Baghdasaryan, A., Balasubramaniam, S., Barić, I.,... Iwanicka-Pronicka, K. (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). https://doi.org/10.1016/j.ymgme.2025.109193

MLA:

Roesch, Sebastian, et al. "Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study." Molecular Genetics and Metabolism 146.1-2 (2025).

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