Gastrointestinal disorders in Down syndrome

Am J Med Genet A. 2019 Aug;179(8):1426-1431. doi: 10.1002/ajmg.a.61258. Epub 2019 Jun 10.

Abstract

Down syndrome is the most common human chromosomal disorder. Among clinical findings, one constant concern is the high prevalence of gastrointestinal system alterations. The aim of this study was to determine the prevalence of gastrointestinal disorders at a Down syndrome outpatient clinic during a 10-year follow-up period. Data from medical files were retrospectively reviewed from 1,207 patients. Gastrointestinal changes occurred in 612 (50.7%). The most prevalent disorder was chronic intestinal constipation. Intestinal parasite occurred in 22% (mainly giardiasis), gastroesophageal reflux disease in 14%, digestive tract malformations occurred in 5%: 13 cases of duodenal atresia, 8 of imperforate anus, 4 annular pancreases, 2 congenital megacolon, 2 esophageal atresias, 2 esophageal compression by anomalous subclavian and 1 case of duodenal membrane. We had 38/1,207 (3.1%) patients with difficulty in sucking and only three with dysphagia that resolved before the second year of life. Peptic ulcer disease, celiac disease, and biliary lithiasis were less prevalent with 3% each. Awareness of the high prevalence of gastrointestinal disorders promotes outstanding clinical follow-up as well as adequate development and greater quality of life for patients with Down syndrome and their families.

Keywords: Down syndrome; congenital malformation; gastrointestinal diseases.

Publication types

  • Observational Study

MeSH terms

  • Adolescent
  • Adult
  • Anus, Imperforate / complications*
  • Anus, Imperforate / diagnosis
  • Anus, Imperforate / genetics
  • Anus, Imperforate / pathology
  • Brazil
  • Child
  • Child, Preschool
  • Constipation / complications*
  • Constipation / diagnosis
  • Constipation / genetics
  • Constipation / pathology
  • Cross-Sectional Studies
  • Down Syndrome / complications*
  • Down Syndrome / diagnosis
  • Down Syndrome / genetics
  • Down Syndrome / pathology
  • Duodenal Obstruction / complications*
  • Duodenal Obstruction / diagnosis
  • Duodenal Obstruction / genetics
  • Duodenal Obstruction / pathology
  • Esophageal Atresia / complications*
  • Esophageal Atresia / diagnosis
  • Esophageal Atresia / genetics
  • Esophageal Atresia / pathology
  • Female
  • Gastroesophageal Reflux / complications*
  • Gastroesophageal Reflux / diagnosis
  • Gastroesophageal Reflux / genetics
  • Gastroesophageal Reflux / pathology
  • Gastrointestinal Tract / abnormalities
  • Gastrointestinal Tract / metabolism
  • Giardiasis / complications*
  • Giardiasis / diagnosis
  • Giardiasis / genetics
  • Giardiasis / pathology
  • Hirschsprung Disease / complications*
  • Hirschsprung Disease / diagnosis
  • Hirschsprung Disease / genetics
  • Hirschsprung Disease / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Intestinal Atresia / complications*
  • Intestinal Atresia / diagnosis
  • Intestinal Atresia / genetics
  • Intestinal Atresia / pathology
  • Male
  • Quality of Life / psychology
  • Retrospective Studies

Supplementary concepts

  • Familial duodenal atresia