Intradyadic Correlation Between Parent-reported and Child-reported Quality of Life in Patients With Anorectal Malformation and Hirschsprung's Disease in Comparison to Healthy Controls.

BACKGROUND: Quality of life (QOL) is an important clinical endpoint in paediatric chronic conditions. How parent-proxy reports differ from child self-reported QOL in patients with anorectal malformation (ARM) and Hirschsprung's disease (HD) has not been well examined to date. This study evaluates agreement between parent-proxy and child-reported QOL scores in ARM and HD patients compared to healthy controls. METHODS: We recruited ARM and HD patients aged 5-17 years and their parents at four tertiary referral centres between December 2020 to February 2023 who had corrective surgery done >12 months prior. Healthy controls were age-matched and gender-matched. They completed the Pediatric Quality of Life Inventory™ (PedsQL™) Generic Core Scales and General Well-Being (GWB) Scale. The questionnaires were administered in parallel parent-proxy-report and child self-report formats. Appropriate statistical analysis was performed with p < 0.05 significance. Data are reported as median (interquartile range). Ethical approval was obtained. RESULTS: There were 65 ARM, 54 HD and 83 controls. There were no significant differences between parent-reported scores and child-reported scores overall in the Total, Psychosocial Health and Physical Health components of Core Scales for ARM, HD and controls. However, parent-reported scores were significantly higher than child-reported scores overall in ARM, HD and controls in the GWB Scale. CONCLUSION: Our findings show that parent-rated and child-rated overall QOL was similar in Core Scales for ARM, HD, and controls. However, parents overestimated child's overall GWB for ARM, HD and controls. This highlights the importance of capturing the perspectives of both parents and children to inform strategies to improve patient care. LEVEL OF EVIDENCE: Level III.

A multi-center cross-sectional comparison of parent-reported quality of life and bowel function between anorectal malformation and Hirschsprung's disease patients with versus those without Down syndrome.

PURPOSE: Down syndrome (DS) is a common abnormality associated with anorectal malformation (ARM) and Hirschsprung's disease (HD). However, quality of life (QOL) in ARM and HD patients with DS is under-researched. This study compares parent-reported QOL and bowel function in ARM and HD patients with DS to those without. METHODS: Between December 2020 to February 2023, parents of ARM and HD patients with and without DS aged 3-17 years who had undergone surgery > 12 months prior at four tertiary referral centers were recruited. We used the Pediatric Quality of Life Inventory™ (PedsQL™) Generic Core Scales, General Well-Being (GWB) Scale and Family Impact (FI) Module questionnaires, and the Rintala bowel function score (BFS). RESULTS: There were 101 ARM, 9 (8.9%) of whom had DS; and 87 HD, of whom 6 (6.9%) had DS. Parent-reported Core scores in ARM and HD with DS were comparable to those without DS. However, ARM and HD with DS had worse scores in the FI Module and bowel function than those without DS. CONCLUSION: Although parent-reported QOL in ARM and HD with DS is similar to those without DS, family impact and BFS are worse. Our findings are limited by small sample size in proportion of DS patients.

Experiences of youth growing up with anorectal malformation or Hirschsprung's disease: a multicenter qualitative in-depth interview study.

PURPOSE: Patients with anorectal malformation (ARM) and Hirschsprung's disease (HD) live with long-term impact of these diseases even into adulthood. We aimed to explore the physical, social and emotional impact of these diseases in adolescents and young adults to develop best practices for transition care. METHODS: We conducted one-on-one in-depth interviews with ARM and HD patients aged ≥ 11 years who had undergone surgery at four tertiary referral centers. All interviews were audio-recorded and transcribed verbatim. We analyzed transcripts for recurring themes, and data were collected until data saturation was reached. Three researchers independently coded the transcripts for major themes using thematic analysis approach. RESULTS: We interviewed 16 participants (11 males) between October 2022 and April 2023. Ages ranged from 11 to 26 years. Five major themes emerged: (1) personal impact (subthemes: physical, emotional and mental health, social, school), (2) impact on family, (3) perceptions of their future (subthemes: relationships, career, state of health), (4) sources of support (subthemes: family, peers, partner), and (5) transition care (subthemes: concerns, expectations). Only females expressed concerns regarding future fertility. CONCLUSION: This study highlights the evolving problems faced by adolescents and young adults with ARM and HD, especially gender-specific concerns. Our findings can inform efforts to provide individualized care.

Anorectal malformation and Hirschsprung's disease: a cross-sectional multicentre comparison of quality of life and bowel function to a healthy population.

PURPOSE: Children with anorectal malformation (ARM) and Hirschsprung's disease (HD) often experience bowel symptoms into adulthood, despite definitive surgery. This study evaluates the quality of life (QOL) and bowel functional outcome of children treated for ARM and HD in comparison to healthy controls. METHODS: Between December 2020 and February 2023, we recruited patients with ARM and HD aged 3-17 years at four tertiary referral centres, who had primary corrective surgery done >12 months prior. Healthy controls were age-matched and sex-matched. All participants completed the Pediatric Quality of Life Inventory Generic Core Scales 4.0, General Well-Being (GWB) Scale 3.0 and Family Impact (FI) Module 2.0 Questionnaires. Bowel Function Score (BFS) Questionnaires were also administered. We also performed subgroup analysis according to age categories. Appropriate statistical analysis was performed with p<0.05 significance. Ethical approval was obtained. RESULTS: There were 306 participants: 101 ARM, 87 HD, 118 controls. Patients with ARM and HD had significantly worse Core and FI Scores compared with controls overall and in all age categories. In the GWB Scale, only ARM and HD adolescents (13-17 years) had worse scores than controls. ARM and HD had significantly worse BFSs compared with controls overall and in all age categories. There was significant positive correlation between BFS and Core Scores, GWB Scores and FI Scores. CONCLUSION: Patients with ARM and HD had worse QOL than controls. Lower GWB Scores in adolescents suggests targeted interventions are necessary. Bowel function influences QOL, indicating the need for continuous support into adulthood.

Parent-Reported Health-Related Quality of Life Outcomes and Impact on Family of Congenital Diaphragmatic Hernia Survivors After Repair: A Cross-Sectional Comparison to Healthy Controls.

BACKGROUND: Congenital diaphragmatic hernia (CDH) survivors often experience long-term CDH-associated morbidities, including musculoskeletal, gastrointestinal and respiratory issues. This study evaluates parent-reported health-related quality of life (HRQOL) and family impact of the disease. METHODS: Electronic medical records (EMR) were reviewed and phone surveys performed with parents of CDH survivors who underwent repair at our institution from 2010 to 2019. They completed the following Pediatric Quality of Life Inventory™ (PedsQL™) questionnaires: Generic Core Scales 4.0 (parent-proxy report) and Family Impact (FI) Module 2.0. Age-matched and gender-matched healthy controls from an existing database were used for comparison. Subgroup analysis of CDH patients alone was also performed. Appropriate statistical analysis was used with p < 0.05 significance. Data are reported as median (range). Ethical approval was obtained. RESULTS: Of 76 CDH survivors, 45 parents (59 %) consented for study participation. Patients and controls were aged 6 (3-12) years; 51 % were male. In Core Scales, there were significant differences between the groups in the overall scores (p = 0.003) and the psychosocial health sub-scores (p = 0.004), but no difference in the physical health domain scores. In the Family Impact Module, there were no significant differences between the groups in overall scores, in parent HRQOL and in family functioning sub-scores. However, CDH patients with learning disabilities had significantly worse Family Impact Module overall scores compared to CDH patients without learning disabilities (p = 0.04). CONCLUSION: The overall HRQOL in children with CDH survivors is worse compared to controls, but impact on family appears similar. We highlight the need for long-term follow-up of CDH patients, especially those with learning disabilities. Healthcare providers should formulate tailored care plans to address patient and caregiver needs. TYPE OF STUDY: Prospective Study. LEVEL OF EVIDENCE: Level III.

Utility of postoperative anorectal manometry in children with anorectal malformation: a systematic review.

Children with anorectal malformation (ARM) often continue to have disturbances in bowel function long after reconstructive surgery. Anorectal manometry may be utilized to evaluate bowel function in these children. We aimed to describe the reported protocols and manometric findings in children with ARM post-reconstructive surgery and to investigate the correlation between manometric evaluation and bowel functional outcome. PubMed, EMBASE, and Google Scholar databases were searched from 1980 to 2021. Data were reviewed and extracted independently by two authors, in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses. Included studies were English articles reporting postoperative assessment of children (≤ 18 years) with ARM using anorectal manometry. From 128 articles obtained in the initial search, five retrospective cohort studies and one prospective study fulfilled inclusion criteria. The rectoanal inhibitory reflex and mean anal resting pressure were parameters most often reported to correlate with postoperative bowel function. The least reported parameters among the studies were high-pressure zone, rectal volume, and rectal sensation. Anorectal manometry could be an objective method providing important information for personalized management of postoperative ARM patients with bowel function issues, but lack of standardized protocols limits a comprehensive analysis of their utility.