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Hirschsprung disease in Down syndrome: An opportunity for improvement
Rebecca A Saberi1, Gareth P Gilna1, Blaire V Slavin2
1DeWitt Daughtry Family Department of Surgery, Division of Pediatric Surgery, University of Miami Miller School of Medicine, Miami, FL, USA.
Insights
Patients with Hirschsprung disease (HD) and Down syndrome (DS) face diagnostic delays and poorer outcomes, including longer hospital stays and increased mortality. This study highlights significant disparities in care for this vulnerable population.
Area of Science:
- Pediatric Surgery
- Genetics
- Neonatal Care
Background:
- Down syndrome (DS) is frequently associated with Hirschsprung disease (HD).
- Existing literature on the outcomes of patients with both HD and DS is conflicting.
- This study investigates the impact of DS on HD patient outcomes.
Purpose of the Study:
- To compare the outcomes of newborns with Hirschsprung disease (HD) with and without Down syndrome (DS).
- To identify specific challenges and disparities faced by HD patients with DS.
Main Methods:
- Utilized the Kids' Inpatient Database (KID) from 2003-2012 to identify newborns with HD.
- Compared demographics, hospital characteristics, and patient outcomes between HD patients with and without DS.
- Employed standard statistical tests for comparative analysis.
Main Results:
- Patients with DS were diagnosed later (6 days vs. 4 days) and had longer hospital stays (22 days vs. 15 days).
- Increased likelihood of wound infection and necrotizing enterocolitis in the DS cohort.
- Mortality rates were four times higher in HD patients with DS compared to those without.
Conclusions:
- Down syndrome is associated with delayed diagnosis in Hirschsprung disease.
- Patients with both HD and DS experience significantly worse clinical outcomes.
- These findings underscore the need for targeted management strategies for HD patients with DS.
Background:
Down syndrome (DS) is the most common abnormality associated with Hirschsprung disease (HD). It has been suggested patients with HD and DS have worse outcomes, however the literature is controversial.
Methods:
The Kids' Inpatient Database (KID) from 2003 to 2012 was used to identify newborns with HD. Demographics, hospital characteristics, and outcomes were compared among patients with and without DS using standard statistical tests.
Results:
There were 481 patients identified with HD, of which 45 (9%) had DS. Patients with DS were older at the time of first rectal biopsy (6 [3-11] days vs. 4 [3-6] days, p = 0.012). There were no differences in operative versus non-operative management in patients with and without DS (p = 0.706). Hospital length of stay was longer in the DS cohort (22 [13-33] days vs. 15 [10-24] days, p = 0.019), and patients with DS were more likely to have a concomitant diagnosis of wound infection (<12% vs. 3%, p = 0.002) and necrotizing enterocolitis (<14% vs. 5%, p = 0.018). The mortality rate for patients with DS was four times higher than those without DS (< 5% vs. < 0.8%, p = 0.018).
Conclusion:
In this nationwide cohort of patients with Hirschsprung disease, those with Down syndrome experienced delays in diagnosis and worse outcomes.
Level Of Evidence:
Level III.
Type Of Study:
Treatment study, retrospective comparative study.
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