Anorectal Malformations - Outcomes up to adulthood

Aims – To perform a detailed evaluation of the bowel functional outcomes of anorectal malformations (ARMs) after standardized treatment and systematic follow-up in relation to matched controls. To study the bowel habits of a large cohort of individuals from the general population to obtain a baseline for comparison to patients. Methods – A single-institution, cross-sectional study of all patients treated between 19832006 for anterior anus (AA, conservative or anal dilatations), perineal fistula (PF) males (anoplasty and/or dilatations) vestibular fistula (VF) or PF females (anterior sagittal anorectoplasty ASARP) rectourethral fistula (RUF; posterior sagittal anorectoplasty – PSARP). Patients with significant cognitive impairment, total sacral agenesis/caudal regression syndrome, Currarino syndrome, or meningomyelocele were excluded. Participants answered a detailed questionnaire on bowel function by post. Parents of children <16 years assisted in responses. Case details were obtained from records. Patients were matched by age and gender to 3 individuals from the general population who had answered identical questionnaires. Ethical approval was obtained. Results – Our study of 594 individuals from the general population identified that minor aberrations in bowel function, especially soiling prevail in healthy individuals in an agedependent manner. A total of 159 patients (72%; median age 12.5 (4-29) years) participated in the study on outcomes for ARMs (79 females: 45 AA and 34 VF/PF and 80 males: 46 PF/low ARM and 34 RUF males (35% bulbar, 53% prostatic, 12% bladder neck fistula). Fecal control in AA females and low ARM males was not significantly different from controls in the long-term (p=NS). In VF/PF in females, 68% of patients attained a functional outcome comparable to controls and 85% were socially continent (vs 100% of controls; p<0.001) Among RUF males, 76% of patients were social continent (vs 95% of controls; p<0.002). Despite some improvement in symptoms with increasing age, both soiling and fecal accidents among patients with VF/PF (65% and 24% respectively) and RUF (59% and 37% respectively) remained significantly higher than in controls in the long-term (18-26% for soiling and 4-6% for fecal accidents; p≤0.006 vs patients).The median BFS, the proportion with voluntary bowel movements and total continence decreased with increasing level of fistula in RUF. Constipation was an important sequel in all types of ARMs, affecting 31-44% of patients vs 2-13% of controls (p≤0.003 vs patients). Social restrictions affected a 15-36% of patients with severe ARMs (vs ≤5% of controls; p≤0.01). Conclusions Our results support the appropriateness of sagittal repair methods for the treatment of VF/PF in females and RUF, and minor perineal procedures for mild ARMs. Patients with mild ARMs can generally be expected to develop bowel functional outcomes comparable to matched peers. In females with VF/PF and males with RUF, problems with fecal control persist at higher levels than controls into adulthood. However, the majority can be expected to achieve social continence with appropriate aftercare and effective management of constipation.