Does presence of a VACTERL anomaly predict an associated gynecologic anomaly in females with anorectal malformations?: A Pediatric Colorectal and Pelvic Learning Consortium Study.

BACKGROUND: VACTERL association is defined by the presence of 3 or more anomalies in any of the following systems: vertebral, anorectal, cardiac, trachea-esophageal, renal, or limb. This study hypothesized that the presence of VACTERL association would correlate with an increased risk of gynecologic anomalies in patients with anorectal malformation (ARM). METHODS: This study is a cross-sectional, retrospective analysis from the prospectively collected, multicenter registry of the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC). The 834 female patients with ARM who were enrolled in the registry by January 1, 2020 were included in this study. The relationship of VACTERL association with presence of a gynecologic anomaly was evaluated with Fisher's exact test. The relationship of each VACTERL system with presence of a gynecologic anomaly was assessed in patients with cloaca, rectovestibular fistulas and rectoperineal fistulas. P-values reported were based on a 2-sided alternative and considered significant when less than 0.05. RESULTS: 834 patients with ARM underwent VACTERL screening and gynecologic evaluation with the three most common subtypes being cloaca (n = 215, 25.8%), rectovestibular fistula (n = 191, 22.9%) and rectoperineal fistula (n = 194, 23.3%). A total of 223 (26.7%) patients with ARM had gynecologic anomalies. VACTERL association was seen in 380 (45.6%) of patients with ARM. Gynecologic anomalies were present in 149 (39.1%) vs. 74 (16.3%) of subjects with vs. without VACTERL association (p < 0.001). VACTERL association did not significantly increase the risk of gynecologic anomaly in patients with cloaca and VACTERL (n = 88, 61.5%) vs. cloaca without VACTERL (n = 39, 54.2% p = 0.308). VACTERL association increased the risk of gynecologic anomalies in patients with rectoperineal fistulas (n = 7, 14.9% vs n = 9, 6.1% p = 0.014) and rectovestibular fistulas (n = 19, 31.1% vs. n = 13, 10.0% p<0.001). In patients with ARM who had a VACTERL association, when one of the associated anomalies was renal, there was an even higher risk of having an associated gynecologic anomaly (n = 138, 44.2% vs. n = 85, 16.3% p<0.001). CONCLUSIONS: VACTERL association in patients with rectoperineal and rectovestibular fistulas correlates with an increased risk of gynecologic anomalies. The presence of VACTERL associated findings, especially renal, should prompt a thorough evaluation of the gynecologic system. LEVEL OF EVIDENCE: III. Retrospective comparative study.

The presence of a neurodiverse disorder is associated with increased use of antegrade enema therapy in children with severe constipation: A study from the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC).

INTRODUCTION: Children with severe constipation and a neurodiverse disorder (Autism and/or developmental delay) represent a challenging bowel management group. Treatment outcomes with laxative or enema therapy remain limited and are often complicated by patient/caregiver compliance. We hypothesized that children with neurodiverse disorders and severe constipation would benefit from a bowel management program (BMP) that includes early use of antegrade enemas. MATERIALS AND METHODS: Children requiring BMP in the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry with diagnosis of constipation and/or constipation with pseudo-incontinence were reviewed. Those with Hirschsprung disease and/or Anorectal Malformation were excluded. BMP needs in patients with a neurodiverse diagnosis were compared to those without to evaluate differences in BMP's. RESULTS: 372 patients requiring a BMP were identified. 95 patients (58 autism spectrum, 54 developmental delay) were neurodiverse, and 277 patients were not. Neurodiverse patients had a higher prevalence of enema therapy 62.1% (59/95) vs. 54.9% (152/273) and use of antegrade enema therapy 33.7% (32/95) vs. 21.2% (58/273), p = 0.126. Neurodiverse patients were older 37.9% (36/95) > 12 years vs. 23.1% (63/273), p = 0.001 and 47.6% (10/21) were changed from laxative to enema therapy over time. 80% (8/10) of those changed from laxatives to enemas used antegrade therapy. 67.3% (35/52) of neurodiverse patients followed over time were on enema therapy at the most recent visit with 80% (28/35) requiring antegrade therapy. CONCLUSION: A large portion of patients with a neurodiverse disorder who fail laxative therapy use antegrade enemas to achieve effective bowel management. Early consideration of an antegrade conduit may simplify treatment in this group of children. LEVEL OF EVIDENCE: III.

30-day postoperative outcomes of neonatal versus delayed anoplasty for perineal and vestibular fistulas.

PURPOSE: The purpose of this study was to compare the postoperative outcomes of neonatal versus delayed repair of rectoperineal and rectovestibular fistulae using a multi-center pediatric colorectal specific database. We hypothesized that the incidence of 30-day postoperative complications is not significantly different between these two surgical treatment strategies. METHODS: We performed a retrospective, observational study of the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) database. We included any patient from the database that underwent primary surgical repair of a rectoperineal or rectovestibular fistula. Neonatal repair was defined as occurring within 14 days of birth, and delayed repair as occurring after that period. The primary outcome was the occurrence of postoperative complications within 30 days. RESULTS: 164 patients were included in the study (123 rectoperineal, 41 rectovestibular); the majority (81%) were repaired in a delayed fashion. Patients that underwent delayed repair had lower birth weights and were more likely to be female than those that underwent neonatal repair. Wound breakdown/dehiscence was the most common complication in both groups (Delayed 5.3% v. Neonatal, 6.5%). We found no significant difference in the incidence of any postoperative complication between groups (Delayed 6.0 v. Neonatal 6.5%, p = 1.0). CONCLUSION: We concluded there was no significant difference in the incidence of 30-day postoperative complications for neonatal versus delayed repair of rectoperineal and rectovestibular fistulae, suggesting that both strategies are safe and may have excellent short-term outcomes in appropriately selected patients.

Multi-institutional review of bowel management strategies in children with anorectal malformations.

BACKGROUND/RATIONALE: To describe current bowel management program (BMP) strategies in anorectal malformation (ARM) patients based on patient-level predictors using data from a multi-institutional consortium. MATERIALS/METHODS: Patient bowel function and BMP were reviewed from Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) data. The PCPLC is comprised of multidisciplinary specialists researching colorectal and pelvic disorders. Seven US institutions submitted de-identified clinical data on ARM patients into a centralized patient registry. RESULTS: The primary ARM of 624 patients was categorized into Mild (45.2%), Moderate (40.4%) or Complex (14.2%) anomaly classifications. Patient-specific BMP were examined based on age and on the presence of spinal cord/sacral anomalies. 418 (67%) enrolled patients were prescribed BMP (<5 yo 56.4%; ≥5-<12 yo 86.7%; ≥12 81.5%). Constipation was the primary chief complaint (80.2%). Forty percent of patients on a BMP were toilet trained and approximately one-half (48.5%) reported daytime stool accidents. Secondary surgical interventions for antegrade continence enemas (ACE) were examined; 14.5% of patients employed ACE strategies and utilization increased with age and varied based on anatomic anomalies. CONCLUSIONS: This is the first report on BMP strategies for patients with ARM from the Pediatric Colorectal and Pelvic Learning Consortium. Individual patient characteristics are explored for their impact on bowel management strategy utilization. LEVEL OF EVIDENCE: IV.