Addressing Gastrointestinal Disorders to Improve Quality of Life for Individuals With Down Syndrome

Addressing Gastrointestinal Disorders to Improve Quality of Life for Individuals With Down Syndrome 1024 661 Erin Gregory

Down syndrome (DS) affects approximately 1 in 700 children born in the United States, presenting with intellectual disability and distinct physical features. Alongside these challenges, individuals with DS often contend with various medical issues that impact their quality of life (QoL), including gastrointestinal (GI) disorders.

Recent research published in the American Journal of Medical Genetics, led by Steven Ciciora, MD, director of division educational activities in the Division of Gastroenterology, Hepatology and Nutrition at Nationwide Children’s Hospital, has brought to light the prevalence of GI-specific disorders among this population, such as functional constipation (FC) and irritable bowel syndrome (IBS), which can significantly diminish QoL.


The Intersection of Down Syndrome and Gastrointestinal Disorders

Dr. Ciciora and the team at Nationwide Children’s conducted a comprehensive study aimed at understanding the intersection of DS and gastrointestinal disorders, particularly disorders of gut-brain interaction (DGBI). This research involved surveying caregivers of children aged 4–18 with DS, recruiting participants through registries and utilizing a secure online platform for data collection.

The study sought to investigate the nuanced aspects of QoL among children and adolescents with DS experiencing DGBIs, shedding light on potential areas for intervention and improvement.

“DGBIs are, to a certain extent, related to two main activities of daily living we all engage in: eating and using the restroom,” says Dr. Ciciora. “While many take these events for granted, people with IBS in particular struggle a great deal in how to fit these events into their daily lives. One cannot simply not eat or not use the restroom. Therefore, addressing symptoms related to these issues can only offer benefit.”


Key Findings Reveal Crucial Insights

The study revealed that over half of children with DS experience at least one DGBI, predominantly functional constipation (FC) and irritable bowel syndrome (IBS), indicating the critical need for clinical attention to GI-specific disorders in this population. Additionally, caregiver reported QoL measures demonstrated significantly lower scores in individuals with Down syndrome with a DGBI compared to those without, emphasizing the substantial impact of GI disorders on overall well-being.

Among DGBIs, individuals with Down syndrome and IBS exhibited notably reduced QoL scores, emphasizing the unique challenges of this condition and the necessity for tailored interventions. Gender and family income did not significantly affect QoL in individuals with Down syndrome and a DGBI, suggesting these factors may not mitigate the impact of GI disorders. Although FC is prevalent in individuals with Down syndrome, its impact on QoL is comparatively lower than other DGBIs, highlighting the complexity of GI disorders and the need for targeted interventions.

The presence of other medical diagnoses or prior surgeries did not influence QoL in children and adolescents with Down syndrome and a DGBI, confirming the need for holistic care to address both GI and non-GI-related health concerns.


Gastrointestinal Intervention to Improve Quality of Life

This study brings to light the importance of recognizing and addressing DGBIs in individuals with Down syndrome to enhance their QoL. Managing GI symptoms, particularly IBS, may serve as a focal point for improving QoL in this population.

“It is important for health care providers to recognize that their patients with Down syndrome can have DGBIs just like any of their other patients,” says Dr. Ciciora. “DGBIs are, on their own, unique diagnoses with specific diagnostic criteria.”

The research highlights the need for further exploration into therapeutic interventions for children and adolescents with Down syndrome experiencing FC or IBS, given the significant impact of these conditions on QoL. By identifying and targeting areas for intervention, health care providers can strive to improve the overall well-being and quality of life for individuals living with Down syndrome.



Ciciora SL, Manickam K, Saps M. Quality of life measures in children with Down syndrome with disorders of gut-brain interaction. Am J Med Genet C Semin Med Genet. 2023;193(4):e32071. doi:10.1002/ajmg.c.32071

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