Prevalence and Outcomes of Gastrointestinal Anomalies in Down Syndrome

Abstract

Objectives Our objective was to investigate the prevalence of small intestinal atresia and Hirschsprung's disease (HD) in infants with Down syndrome (DS) and its impact on outcomes.

Study Design We analyzed the National Inpatient Sample dataset. We included infants with DS, small intestinal atresia, HD, and the concomitant occurrence of both conditions. Regression analysis was used to control clinical and demographic variables.

Results A total of 66,213,034 infants were included, of whom, 99,861 (0.15%) had DS. The concomitant occurrence of small intestinal atresia and HD was more frequent in infants with DS compared with the general population, adjusted odds ratio (aOR): 122, 95% confidence interval (CI): 96–154, (p < 0.001). Infants with DS and concomitant small intestinal atresia and HD had higher mortality compared with those without these conditions, aOR: 8.59, 95% CI: 1.95–37.8.

Conclusion Infants with DS are at increased risk of concomitant small intestinal atresia and HD, and this condition is associated with increased mortality.

Key Points

• Infants with Down syndrome are at increased risk of congenital GI anomalies.

• Infants with Down syndrome are at increased risk of necrotizing enterocolitis.

• Increased mortality in Down syndrome infants with concomitant small intestinal atresia and Hirschsprung's disease.

Keywords

Hirschsprung's disease - duodenal atresia - trisomy 21 - mortality

Authors' Contributions

M.M.E. and J.C. conceptualized and designed the study, interpreted the statistical analyses, drafted the initial manuscript, reviewed, and revised the manuscript and critically reviewed the manuscript for important intellectual content. F.S. conceptualized and designed the study, conducted statistical analyses, edited and revised the initial manuscript, reviewed and revised the manuscript, and critically reviewed the manuscript for important intellectual content. M.A.M. and H.A. conceptualized and designed the study, interpreted the statistical analyses, reviewed, and revised the manuscript and critically reviewed the manuscript for important intellectual content. All authors approved the final manuscript as submitted and agreed to be accountable for all aspects of the work.

Ethical Approval

The study was approved by the local Ethics Committee of Faculty of Medicine, Menoufia University and it complies with the Helsinki Declaration of 1964, as revised in 2013.

Patients' Consent

Written informed consent was obtained from the parents of all subjects of the study before enrollment.

Publication History

Received: 08 August 2023

Accepted: 16 April 2024

Article published online:
14 May 2024

• References

• 1 Perlman SL. Down's syndrome,. In: Aminoff MJ, Daroff RB. eds. In Encyclopedia of the Neurological Sciences (Second Edition). Academic Press, 2014: 1026-1028
• 2 de Groot-van der Mooren MD, Scheerman BC, Rammeloo LAJ. et al. Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study. Eur J Pediatr 2023; 182 (01) 319-328
• 3 Stoll C, Dott B, Alembik Y, Roth MP. Associated congenital anomalies among cases with Down syndrome. Eur J Med Genet 2015; 58 (12) 674-680
• 4 Holmes G. Gastrointestinal disorders in Down syndrome. Gastroenterol Hepatol Bed Bench 2014; 7 (01) 6-8
• 5 Bermudez BEBV, de Oliveira CM, de Lima Cat MN, Magdalena NIR, Celli A. Gastrointestinal disorders in Down syndrome. Am J Med Genet A 2019; 179 (08) 1426-1431
• 6 Rattan KN, Singh J, Dalal P. Neonatal duodenal obstruction: a 15-year experience. J Neonatal Surg 2016; 5 (02) 13
• 7 Friedmacher F, Puri P. Hirschsprung's disease associated with Down syndrome: a meta-analysis of incidence, functional outcomes and mortality. Pediatr Surg Int 2013; 29 (09) 937-946
• 8 Heuckeroth RO. Hirschsprung disease—integrating basic science and clinical medicine to improve outcomes. Nat Rev Gastroenterol Hepatol 2018; 15 (03) 152-167
• 9 HCUP. Accessed January 31, 2021 at: hcup-us.ahqr.gov/kidoverview.jsp#structure
• 10 Kitsantas P, Kang E, Yang L. Root cause analysis and Bayesian networks of Down syndrome and necrotizing enterocolitis. Qual Manag Health Care 2007; 16 (04) 328-335
• 11 Boghossian NS, Hansen NI, Bell EF. et al; Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Survival and morbidity outcomes for very low birth weight infants with Down syndrome. Pediatrics 2010; 126 (06) 1132-1140
• 12 Yee WH, Soraisham AS, Shah VS. et al. Canadian Neonatal Network. Prevalence and timing of presentation of necrotizing enterocolitis in preterm infants. Pediatrics 2012; 129 (02) 298-304
• 13 Saberi RA, Gilna GP, Slavin BV. et al. Hirschsprung disease in Down syndrome: an opportunity for improvement. J Pediatr Surg 2022; 57 (06) 1040-1044
• 14 Kimble RM, Harding J, Kolbe A. Additional congenital anomalies in babies with gut atresia or stenosis: when to investigate, and which investigation. Pediatr Surg Int 1997; 12 (08) 565-570
• 15 Duess JW, Puri P. Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review. Pediatr Surg Int 2015; 31 (08) 781-785
• 16 Stallings EB, Isenburg JL, Heinke D, Sherman SL, Kirby RS, Lupo PJ. National Birth Defects Prevention Network. Co-occurrence of congenital anomalies by maternal race/ethnicity among infants and fetuses with Down syndrome, 2013-2017: A U.S. population-based analysis. Birth Defects Res 2022; 114 (02) 57-61
• 17 Heinke D, Isenburg JL, Stallings EB. et al; National Birth Defects Prevention Network. Prevalence of structural birth defects among infants with Down syndrome, 2013-2017: A US population-based study. Birth Defects Res 2021; 113 (02) 189-202
• 18 Salemi JL, Tanner JP, Kirby RS, Cragan JD. The impact of the ICD-9-CM to ICD-10-CM transition on the prevalence of birth defects among infant hospitalizations in the United States. Birth Defects Res 2019; 111 (18) 1365-1379