Swallowing Assessment in a Pediatric Case of Allan–Herndon–Dudley Syndrome (MCT8 Deficiency): Advanced Insights into Dysphagia via Flexible Endoscopic Evaluation of Swallowing

Nina Scholtes; Evelyn Jelesch; Paul Diesener; Johannes C. Stoffels; Thomas M.K Völkl

doi:10.1055/a-2502-6417

Neuropediatrics, Inhaltsverzeichnis

Neuropediatrics
DOI: 10.1055/a-2502-6417

Short Communication

Swallowing Assessment in a Pediatric Case of Allan–Herndon–Dudley Syndrome (MCT8 Deficiency): Advanced Insights into Dysphagia via Flexible Endoscopic Evaluation of Swallowing

Nina Scholtes

¹Division of Neuropediatrics and Integrated Health Care, Department of Pediatrics and Adolescent Medicine, KJF Klinikum Josefinum, Augsburg, Germany

,

Evelyn Jelesch

¹Division of Neuropediatrics and Integrated Health Care, Department of Pediatrics and Adolescent Medicine, KJF Klinikum Josefinum, Augsburg, Germany

,

Paul Diesener

²Center for Dysphagia and Tracheostomy Care, Hegau-Jugendwerk, Gailingen am Hochrhein, Germany

,

Johannes C. Stoffels

¹Division of Neuropediatrics and Integrated Health Care, Department of Pediatrics and Adolescent Medicine, KJF Klinikum Josefinum, Augsburg, Germany

,

Thomas M.K Völkl

³Division of Pediatric Endocrinology and Diabetology, Department of Pediatrics and Adolescent Medicine, KJF Klinikum Josefinum, Augsburg, Germany

⁴Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany

› Institutsangaben

Abstract

Patients with MCT8 deficiency often present with underweight and are prone to frequent pulmonary infections, including aspiration pneumonia. Despite commonly reported swallowing difficulties in this population, specific dysphagia symptoms have not been well-documented. We conducted a flexible endoscopic evaluation of swallowing (FEES) on a young boy diagnosed with MCT8 deficiency, who exhibited recurrent pulmonary infections and failed to achieve substantial weight gain despite an oral energy intake appropriate for his age and height. The FEES revealed generally weakened swallowing mechanisms, characterized by prolonged swallow and cough sequences, along with penetration and aspiration of both fluid and semi-solid test boluses. Given the considerable effort associated with oral intake, we hypothesize that dysphagia contributes to his underweight status, alongside peripheral thyrotoxicosis. In conclusion, FEES proved to be an invaluable tool in identifying underlying swallowing impairments and assessing the need for gastrostomy in this patient. For MCT8 deficiency, patients presenting with underweight, frequent pulmonary infections, and swallowing difficulties, it is recommended that diagnostic evaluations include FEES to thoroughly assess their swallowing function and airway protection.

Keywords

MCT8 - dysphagia - swallowing - aspiration - FEES

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Referenzen

References
1 Krude H, Biebermann H, Schuelke M, Müller TD, Tschöp M. Allan-Herndon-Dudley-syndrome: considerations about the brain phenotype with implications for treatment strategies. Exp Clin Endocrinol Diabetes 2020; 128 (6-07): 414-422
2 van Geest FS, Groeneweg S, van den Akker ELT. et al. Long-term efficacy of T3 analogue TRIAC in children and adults with MCT8 deficiency: a real-life retrospective cohort study. J Clin Endocrinol Metab 2022; 107 (03) e1136-e1147
3 Verge CF, Konrad D, Cohen M. et al. Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. J Clin Endocrinol Metab 2012; 97 (12) 4515-4523
4 van Geest FS, Groeneweg S, Popa VM, Stals MAM, Visser WE. Parent perspectives on complex needs in patients with MCT8 deficiency: an international, prospective, registry study. J Clin Endocrinol Metab 2023; 109 (01) e330-e335
5 Groeneweg S, van Geest FS, Abacı A. et al. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Lancet Diabetes Endocrinol 2020; 8 (07) 594-605
6 Wilpert NM, Tonduti D, Vaia Y, Krude H, Sarret C, Schuelke M. Establishing patient-centered outcomes for MCT8 deficiency: stakeholder engagement and systematic literature review. Neuropsychiatr Dis Treat 2023; 19: 2195-2216
7 van den Engel-Hoek L, de Groot IJ, de Swart BJ, Erasmus CE. Feeding and swallowing disorders in pediatric neuromuscular diseases: an overview. J Neuromuscul Dis 2015; 2 (04) 357-369
8 Christmas C, Rogus-Pulia N. Swallowing disorders in the older population. J Am Geriatr Soc 2019; 67 (12) 2643-2649
9 Umemoto G, Furuya H. Management of dysphagia in patients with Parkinson's disease and related disorders. Intern Med 2020; 59 (01) 7-14
10 Langmore SE, Schatz K, Olsen N. Fiberoptic endoscopic examination of swallowing safety: a new procedure. Dysphagia 1988; 2 (04) 216-219
11 Ünsal Y, Hayran G. Impact of early intervention with triiodothyroacetic acid on peripheral and neurodevelopmental findings in a boy with MCT8 deficiency. J Clin Res Pediatr Endocrinol 2024; 16 (01) 116-122
12 Chang MC, Choo YJ, Seo KC, Yang S. The relationship between dysphagia and pneumonia in acute stroke patients: a systematic review and meta-analysis. Front Neurol 2022; 13: 834240
13 Verin E, Clavé P, Bonsignore MR. et al. Oropharyngeal dysphagia: when swallowing disorders meet respiratory diseases. Eur Respir J 2017; 49 (04) 1602530