Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort.
Williams Beuren syndrome
celiac disease
diverticular disease
gastrointestinal symptoms
healthcare utilization
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
29 Jul 2024
29 Jul 2024
Historique:
revised:
10
06
2024
received:
17
04
2024
accepted:
14
07
2024
medline:
29
7
2024
pubmed:
29
7
2024
entrez:
29
7
2024
Statut:
aheadofprint
Résumé
Williams syndrome (WS) is a multi-system condition caused by the deletion of 25-27 coding genes on human chromosome 7. Irritability, gastrointestinal (GI) reflux and slow growth are commonly reported in infants with WS, but less data exist regarding GI concerns in older children and adults with the condition. This study evaluates 62 individuals with WS (31 children aged 3-17, and 31 adults aged 18-62) as well as 36 pediatric and adult controls to assess current and historical rates of common GI symptoms. Data were evaluated using a regression model including age, sex, self-reported race, and diagnosis. Symptoms including food intolerance, reflux, dysphagia, choking/gagging, vomiting, constipation, bloating, diarrhea, hematochezia, rectal prolapse, abdominal pain, and weight loss are more common in those with WS relative to controls. In addition, people with WS utilize more GI medications, specialty care, procedures, and supplemental feeds. Among those with WS, symptoms were present at similar rates in children and adults, except for diverticular disease, which was not noted until adulthood. GI symptoms are frequent in people with WS and serve as a significant source of morbidity.
Identifiants
pubmed: 39073239
doi: 10.1002/ajmg.a.63827
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e63827Subventions
Organisme : Division of Intramural Research for the National Heart, Lung, and Blood Institute
Organisme : National Institute of Allergy and Infectious Disease
Organisme : Clinical Center of the National Institutes of Health
Informations de copyright
Published 2024. This article is a U.S. Government work and is in the public domain in the USA. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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