Impact of gastrointestinal and urological symptoms in children with myotonic dystrophy type 1.

Autor: Maagdenberg SJM; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein-Zuid 10, PO Box 9101, 6500 HB, Nijmegen, the Netherlands., Klinkenberg S; Department of Pediatric Neurology, Maastricht University Medical Center, Maastricht, the Netherlands., Sophie van den Berg J; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein-Zuid 10, PO Box 9101, 6500 HB, Nijmegen, the Netherlands., Altena-Rensen S; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein-Zuid 10, PO Box 9101, 6500 HB, Nijmegen, the Netherlands., Vrijens D; Department of Urology, Maastricht University Medical Center, Maastricht, the Netherlands., Janssen EJM; Department of Pediatrics, Maastricht University Medical Center, Maastricht, the Netherlands., Gierenz N; Department of Pediatric Gastroenterology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., de Wall LL; Department of Pediatric Urology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., Braakman HMH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein-Zuid 10, PO Box 9101, 6500 HB, Nijmegen, the Netherlands. Electronic address: Hilde.Braakman@radboudumc.nl.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Feb; Vol. 35, pp. 1-7. Date of Electronic Publication: 2023 Dec 21.
DOI: 10.1016/j.nmd.2023.12.011
Abstrakt: Gastrointestinal and urological symptoms are frequently reported by people with myotonic dystrophy type 1 (DM1) but have remained understudied. In a cross-sectional study, frequency, nature, treatment and impact of gastrointestinal and urological symptoms in children with DM1 aged 5-18 years were assessed. We included 58 children (30 males, 28 females) with a mean age of 13 years; 74.1 % reported at least one gastrointestinal symptom. Abdominal pain was the most frequently reported symptom (51.7 %), followed by dysphagia (41.8 %), diarrhoea (36.2 %), encopresis (36.0 %), constipation (32.7 %), bloating and flatulence (both 25.9 %). The most frequently reported urological symptoms were difficulty with toilet training (59.3 %), urinary incontinence (22.0 %), enuresis nocturna (10.3 %) and voiding (23.5 % hesitancy, 4.8 % intermittency and 13.8 % dysuria). The majority considered urological and gastrointestinal symptoms to have a negative influence on their daily life; 22.4 % of parents reported severe influence on daily family life (shame, social restrictions, school absence and concerns for their children's future). Considering the high prevalence of urological and gastrointestinal symptoms in children with DM1 and their influence on daily life it is key to correctly recognize, diagnose and treat these symptoms. We recommend screening for gastrointestinal and urological symptoms in the standard of care for children with DM1.
Competing Interests: Declaration of competing interest None. This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
(Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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