Patients born with an anorectal malformation (ARM) or Hirschsprung disease (HD) require surgical treatment in childhood. In patients with ARM, fecal incontinence may occur despite correct surgical repair, as this also depends on the severity and type of the ARM and associated anomalies[1]. In patients with HD fecal control should not be impaired after surgery provided the anal canal is intact [2, 3].
Quality of life and bowel function in patients born with ARM or HD has been previously reported for children by their parents or caregivers and by adolescent and adult patients [4–15]. Long-term studies of adult patients with ARM have shown that fecal continence is a strong predictor of quality of life (QoL) [11]. For those with HD, bowel function has been shown to deteriorate with age, with only slight impact on QoL [12]. Conversely, it has been observed that adult patients with ARM reported an improvement in fecal incontinence or soiling over time [9]. It remains unclear if this improvement is real, or if it is due to an inherent adaption to the individual’s condition and change in their expectations [8, 11]. However, it has also been shown that soiling, constipation, associated anomalies, severity of ARM, and presence of abdominal pain, all correlated significantly with patients’ psychosocial morbidity [16]. Treatment of fecal incontinence with a comprehensive bowel management program was described in 2009 by the senior authors [17]. Its impact on the quality of life in children with fecal incontinence has previously been reported[18]. Three months after implementation of a successful bowel management program, the fecal incontinence index (FII) as well as the quality of life (PedsQL 4.0) have shown statistically significant improvement.
Given the importance of fecal control for patient wellbeing, this study sought to evaluate gastrointestinal quality of life, bowel function and the influence of successful bowel management in adult patients with ARM and HD. Three validated instruments were used, Bowel Function Score (BFS), 36-item short-form health survey (SF-36) and Gastrointestinal Quality of Life (GIQoL), which assesses bowel function, physical and mental health components and quality of life system specific in patients with gastrointestinal disorders. It was hypothesized that adult patients with ARM or HD that experienced fecal incontinence without proper bowel management would report lower levels of gastrointestinal quality of life compared to a healthy population.
Methods
This was a cross sectional study of male and female patients born with either an ARM or HD who underwent surgical intervention by our team. Patients who were older than 18 years of age in the Adult Colorectal Research Registry were contacted to participate in the research study to assess bowel function and quality of life. Patients were sent electronic surveys through REDCap. REDCap is a secure, web-based application to capture data for clinical research [19]. Study enrollment occurred between October 2019 and August 2022. In addition to basic demographic information, general health, bowel management, fecal control, stool accidents and soiling were assessed. Patients were asked to complete three validated questionnaires: Bowel Function Score (BFS), the Gastrointestinal Quality of Life Index (GIQoLI) and the Short Form 36 Health Survey (SF-36).
Bowel Function Score (BFS) is a 7-item multivariate scoring system, including questions of fecal control and social impact due to bowel habits [5]. The participants score each question from zero to three, except for the question of stool frequency, which is scored from one to two. The scores are then summarized with a possible maximum score of 20, indicating good bowel control.
Gastrointestinal Quality of Life Index (GIQOLI) was validated in 1995 and assesses the four dimensions of gastrointestinal symptoms, physical and social function, and emotional status. The participants answer each question on a five-point Likert scale from zero to four. Values are summed with a maximum score of 144 [20].
Short Form 36 Health Survey (SF-36) was developed in 1992 and assesses eight health concepts, which are physical functioning, role limitations due to physical or emotional health problems, bodily pain, general health, vitality, social functioning, and mental health [20]. These scores are then presented as a physical component summary (PCS) and a mental component summary (MCS) subscore and understood as the physical and mental components of health, although these should always be interpreted in the context of all subscales [21, 22].
Patients were included in the study if they were confirmed to have a diagnosis of ARM or HD and completed all three questionnaires. The reported demographic data of the patients was linked to their surgical records to ensure accurate colorectal diagnoses. Bowel function and control was assessed and defined as clean, if no involuntary bowel movements occurred (fecal accidents or soiling), and not clean, when the patient reported to have fecal accidents or soiling, despite having a bowel regimen of either laxatives or enemas (antegrade or retrograde). Patients with an ostomy were excluded from the analysis of the BFS and analyzed separately.
Survey scores were summarized and reported as median (Q1, Q3) and compared to reported results of a healthy comparison study population in literature [20, 23, 24]. In addition, analysis was also performed comparing outcomes between the study population groups of ARM and HD to measures of patients with inflammatory bowel disease (IBD) reported in the literature[25–27].
One-sample Wilcoxon tests were used to compare BFS, GIQoL, and SF-36 scores to reference values from healthy and IBD populations[20, 23–28]. In some cases, the healthy reference values were the maximum possible subscore and thus no formal testing was conducting. Statistically significant p-values (< 0.05) indicate that the median score for a given diagnosis group within our study sample is significantly different from the reference value.
Additionally, two-sample Wilcoxon tests or Kruskal-Wallis tests were used to compare scores between bowel control subgroups. For statistically significant (p-value < 0.05) Kruskal-Wallis tests, post-hoc Dunn’s tests were used to identify statistically significant differences in pairwise comparisons between bowel control subgroups. Due to the exploratory nature of this study, p-values were not adjusted for multiple comparisons. Statistical analyses were performed using R Studio (versions 4.1.2). This study was approved by the Colorado Multiple Institutional Review Board (COMIRB #19-1050, 19–0899, 21-3153, 21-3154).