Robyn A Wallace1. 1. Mater and Princess Alexandra Hospitals, Brisbane, Australia. robyn.wallace@uq.edu.au
Abstract
BACKGROUND: Adults with Down syndrome (DS) are predisposed to syndromic and environmental gastrointestinal conditions. METHOD: In a hospital-based clinic for adults with DS, a chart audit was conducted to assess the range and frequency of gastrointestinal conditions. RESULTS: From January 2003 to March 2005, 57 patients attended the clinic, average age 37 years (SD = 13, range 17-63), 34(60%) male, and 12(21%) with a history of institutionalisation. Of these, 56 were found to have at least one gastrointestinal concern. Of the genotypic conditions, the prevalence was as follows: 6(12%) of 51 tested had likely celiac disease, 1(2%) had achalasia, 1(2%) inflammatory bowel disease, 1(2%) cholelithiasis, 2(4%) unexplained abnormal liver function tests, 1(2%) extrinsic oesophageal compression, and 5(9%) gastro-oesophageal reflux. Of the environmental conditions, 29(67%) of 43 tested had H. pylori infection; 13(25%) of 53 tested had hepatitis B infection (including 2 HbsAg positive, 0 HbeAg positive), 22(42%) non-immune and 4(7%) not tested; 17(36%) of 47 tested were immune to hepatitis A, 30(64%) non-immune and 10(18%) not tested. Of the conditions of uncertain link with Down syndrome, 11(19%) of the 57 patients had unexplained constipation; 11(19%) had unexplained chronic diarrhoea; 1(2%) had haemochromatosis; and 39(68%) presented with overnutrition. CONCLUSION: On specific enquiry, a majority of adults with DS have a gastrointestinal condition. As many of the conditions require hospital services, specially designed protocols in this setting should be developed.
BACKGROUND: Adults with Down syndrome (DS) are predisposed to syndromic and environmental gastrointestinal conditions. METHOD: In a hospital-based clinic for adults with DS, a chart audit was conducted to assess the range and frequency of gastrointestinal conditions. RESULTS: From January 2003 to March 2005, 57 patients attended the clinic, average age 37 years (SD = 13, range 17-63), 34(60%) male, and 12(21%) with a history of institutionalisation. Of these, 56 were found to have at least one gastrointestinal concern. Of the genotypic conditions, the prevalence was as follows: 6(12%) of 51 tested had likely celiac disease, 1(2%) had achalasia, 1(2%) inflammatory bowel disease, 1(2%) cholelithiasis, 2(4%) unexplained abnormal liver function tests, 1(2%) extrinsic oesophageal compression, and 5(9%) gastro-oesophageal reflux. Of the environmental conditions, 29(67%) of 43 tested had H. pyloriinfection; 13(25%) of 53 tested had hepatitis B infection (including 2 HbsAg positive, 0 HbeAg positive), 22(42%) non-immune and 4(7%) not tested; 17(36%) of 47 tested were immune to hepatitis A, 30(64%) non-immune and 10(18%) not tested. Of the conditions of uncertain link with Down syndrome, 11(19%) of the 57 patients had unexplained constipation; 11(19%) had unexplained chronic diarrhoea; 1(2%) had haemochromatosis; and 39(68%) presented with overnutrition. CONCLUSION: On specific enquiry, a majority of adults with DS have a gastrointestinal condition. As many of the conditions require hospital services, specially designed protocols in this setting should be developed.
Authors: Henning R Gockel; Johannes Schumacher; Ines Gockel; Hauke Lang; Thomas Haaf; Markus M Nöthen Journal: Hum Genet Date: 2010-08-11 Impact factor: 4.132
Authors: Ellen M Schill; Christina M Wright; Alisha Jamil; Jonathan M LaCombe; Randall J Roper; Robert O Heuckeroth Journal: JCI Insight Date: 2019-04-18