TY - JOUR
T1 - Impact of gastrointestinal and urological symptoms in children with myotonic dystrophy type 1
AU - Maagdenberg, Sandra J.M.
AU - Klinkenberg, Sylvia
AU - Sophie van den Berg, J.
AU - Altena-Rensen, Sandra
AU - Vrijens, Desiree
AU - Janssen, Etienne J.M.
AU - Gierenz, Nicole
AU - de Wall, Liesbeth L.
AU - Braakman, Hilde M.H.
N1 - Publisher Copyright:
© 2023 The Author(s)
PY - 2024/2/1
Y1 - 2024/2/1
N2 - 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.
AB - 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.
KW - DM1
KW - Gastrointestinal
KW - Myotonic dystrophy type 1
KW - Neuromuscular diseases
KW - Steinert disease
KW - Urological
U2 - 10.1016/j.nmd.2023.12.011
DO - 10.1016/j.nmd.2023.12.011
M3 - Article
SN - 0960-8966
VL - 35
SP - 1
EP - 7
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
ER -