Quality of life measures in children with Down syndrome with disorders of gut-brain interaction

Am J Med Genet C Semin Med Genet. 2023 Dec;193(4):e32071. doi: 10.1002/ajmg.c.32071. Epub 2023 Oct 26.

Abstract

Down syndrome (DS) is associated with multiple medical comorbidities. Perhaps related to such, caregivers of individuals with DS report lower quality of life (QoL) compared to individuals without DS. It has been shown that disorders of gut-brain interaction (DGBI) such as functional constipation (FC) and irritable bowel syndrome (IBS) are common in individuals with DS. We measured caregiver-reported QoL in individuals with DS with a DGBI and compared them to individuals with DS without a DGBI via a cross-sectional national survey. All measures of QoL were lower in those with DS who meet criteria for a DGBI compared to those with DS without a DGBI. Males and females with DS and at least one DGBI had similar QoL scores. While FC was the most common DGBI seen in individuals with DS, there was no difference in any aspect of QoL in subjects with FC when compared to individuals with other DGBIs. However, all measures of QoL were lower in those with IBS compared to individuals with other DGBIs. These findings suggest that management of gastrointestinal symptoms from DGBIs, particularly IBS, may serve as a target for increasing QoL in a notable subset of individuals with DS.

Keywords: abdominal pain; functional constipation; irritable bowel syndrome.

MeSH terms

  • Brain
  • Brain Diseases*
  • Child
  • Constipation / complications
  • Constipation / diagnosis
  • Cross-Sectional Studies
  • Down Syndrome* / complications
  • Female
  • Humans
  • Irritable Bowel Syndrome* / complications
  • Irritable Bowel Syndrome* / diagnosis
  • Male
  • Quality of Life
  • Surveys and Questionnaires