Hirschsprung’s Disease in down Syndrome: An Opportunity for Improvement

Background: Down Syndrome (DS) is the most common abnormality associated with Hirschsprung’s Disease (HD). It has been suggested that patients with DS have worse outcomes following treatment of HD, however the literature is controversial. This study aims to compare the nationwide diagnosis, treatment, and outcomes of patients with and without DS and HD.

Methods: The Kid’s Inpatient Database (KID) from 2003-2012 was used to identify newborns with a diagnosis of HD via rectal biopsy and/or operative treatment of HD. Demographics, hospital characteristics, and complications were compared amongst patients with and without DS using standard statistical tests. Results were weighted for national estimates.

Results: There were 481 patients identified with a diagnosis of HD, of which 45 (9%) also had DS. Patients with DS were older at both the time of first rectal biopsy (6 [3-11] days vs. 4 [3-6] days, p=0.012) and time of index operation (13 [7-17] days vs. 7 [4-12] days, p=0.001). Patients with DS were more likely to have a delayed diagnosis of HD past 30 days of life (9% vs. 2%, p=0.003). Patients with DS patients were just as likely to undergo operative treatment for HD and there were no differences observed in the type of treatment, including stoma placement (Table 1). Overall hospital length of stay was longer in the DS cohort (22 [13-33] days vs. 15 [10-24] days, p=0.019). Patients with DS were also more likely to have a concomitant diagnosis of a congenital cardiac defect, wound infection, necrotizing enterocolitis, as well as other infections during hospital admission (Table 1). When excluding any patient with a congenital cardiac condition other than atrial/ventricular septal defect, those with DS were still more likely to have delayed HD diagnosis (11% vs. 2%, p=0.008) and experienced higher infection rates (29% vs. 11%, p=0.013). The overall mortality rate for patients with DS was four times higher than those without DS (4% vs. 1%, p=0.018).

Conclusion: In this nationwide cohort of patients with Hirschsprung’s disease, patients who also had Down Syndrome experienced delays in diagnosis, more hospital complications, and higher mortality. These findings support earlier suspicion and diagnosis of HD in a patient population that is already know to carry a strong association with the disease.