Association between early and current gastro-intestinal symptoms and co-morbidities in children and adolescents with Angelman syndrome.
G Leader, S Whelan, N N Chonaill and 5 others
PMID 36052644WHAT IT FOUND
In children with Angelman syndrome, current frequent gastrointestinal symptoms are strongly linked to a history of gastroesophageal reflux and night-time urinary incontinence.
Excessive night-time sweating also predicts these symptoms. Clinicians should investigate GI issues when patients present with these specific co-morbidities.
Key findings
01Gastroesophageal reflux in infancy and a history of strep throat significantly predicted the presence of frequent current gastrointestinal symptoms.
02Participants with frequent gastrointestinal symptoms were significantly more likely to have difficulty with night-time urinary continence compared to those with low frequency symptoms.
03Sleep hyperhidrosis (excessive night-time sweating) was the only sleep subscale significantly associated with and predictive of frequent gastrointestinal symptoms.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
The study relied on parental-report surveys, which introduces potential recall bias regarding infancy history. Most of the measures used, apart from the Sleep Disturbance Scale for Children, have not been psychometrically validated. The analysis was cross-sectional, so it identifies associations and predictors but cannot prove that GI symptoms cause incontinence or sleep issues. The sample included only children and adolescents, so findings may not apply to adults with Angelman syndrome. Diagnosis was primarily parent-reported, though 93% of informants reported genetic confirmation.
Declared interests
The authors declared no conflicts of interest. The research did not receive specific grant funding from public, commercial, or not-for-profit sectors.
The easy way to misread this
Do not assume that treating the gastrointestinal symptoms will automatically resolve the night-time incontinence or sleep sweating. The study shows an association, but it does not prove that GI issues are the direct cause of these co-morbidities.