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.

The relationship between the caregiver burden and quality of life in parents of Turkish children with anorectal malformation or Hirschsprung's disease.

BACKGROUND: Anorectal malformation (ARM) or Hirschsprung's disease (HD) in children impact on parents' burden of care and quality of life (QoL). The aim of this study was to investigate the relationship between caregiver burden and QoL in parents of children with ARM or HD. DESIGN AND METHODS: This cross-sectional study was conducted with 51 parents who completed the Zarit Burden Inventory (ZBI) and World Health Organization Quality of Life Scale-Short Form Turkish Version (WHOQOL-BREF-TR). RESULTS: The mean (±SD) ZBI score was 33.6 (±12.7), and 47.1% of parents (n = 24) perceived their caregiver burden as mild, 31.4% (n = 16) as moderate, and 3.9% (n = 2) as severe. According to the multivariate linear regression, associated anomalies (ß1 = 5.912), family income (ß1 = -6.007), stoma care (ß1 = 8.287), and diagnosis were identified to be significant determinants of caregiver burden. A negative, moderate, and significant relationship was identified between the ZBI scores and the physical domain (r = -0.417, p < .01), psychological domain (r = -0.421, p < .01), social relations domain (r = -0.398, p < .01), and environmental domain (r = -0.495, p < .01) scores of the WHOQOL-BREF-TR. CONCLUSIONS: The mothers perceived their caregiver burden as mild. However, a significant number of parents suffer from moderate to heavy caregiver burden. An increase in the caregiver burden of parents reduces their quality of life. PRACTICE IMPLICATIONS: Heightened awareness of the potential for caregiver burden and its association with quality of life among parents of children with ARM and HD may contribute to improved.

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.

Mental Health, Psychosocial Functioning, and Quality of Life in Adolescents With Hirschsprung Disease.

BACKGROUND: Studies of mental health in adolescents with Hirschsprung disease (HD) are scarce. This cross-sectional study investigates mental health, psychosocial functioning and quality of life in HD adolescents. METHODS: Adolescents (12-18 years) treated at the Department of pediatric surgery at Oslo University Hospital were invited for participation. Mental health was assessed by interview; Child Assessment Schedule (CAS) and questionnaires; parental Child Behavior Checklist (CBCL) and adolescent Youth Self-Report (YSR). Psychosocial functioning was rated by Child Global Assessment Scale (cGAS). Adolescent Quality of Life was assessed by Pediatric Quality of Life inventory (PedsQL) and chronic family difficulties (CFD) by interview. Medical records were reviewed for somatic history. RESULTS: Thirty-seven adolescents, 28 males, median age 14.3 years, participated. By CAS interview, 8 of 37 (44% of females and 14% of males) fulfilled criteria for psychiatric diagnosis all within emotional and related disorders. Twenty-seven percent had CBCL internalizing scores and 16% had YSR internalizing scores in clinical range indicating emotional problems. By interviewer rated cGAS, 27% were scored in clinical range. By PedsQL 16% reported reduced psychosocial health score. Increased CFD, lower psychosocial functioning and reduced QoL as well as less paternal education were significantly associated with psychiatric diagnosis. Twice as many (4/8) adolescents who either had a stoma or bowel management had a psychiatric diagnosis compared to those who had neither stoma nor bowel management (7/28). CONCLUSION: Nearly one in four adolescents with HD fulfilled criteria for psychiatric diagnosis. Mental health problems were associated with reduced psychosocial function and reduced QoL. LEVEL OF EVIDENCE: III.

Psychosocial Outcomes of Parents of Children with Hirschsprung Disease Beyond Early Childhood.

PURPOSE: The lifelong impact of Hirschsprung disease (HD) upon children and their families is increasingly well recognized. Parental psychosocial wellbeing and family functioning are determinants of psychological and health-related outcomes in children with chronic conditions. We performed a cross-sectional cohort study to evaluate the psychosocial functioning of parents/caregivers of children with HD, beyond early childhood. METHODS: Parents/caregivers of children with HD, aged 4-14 years, managed at a tertiary pediatric surgical center were surveyed. Parent psychosocial outcomes, including adjustment to illness and family response, were assessed using four validated measures: Family Management Measure (FaMM); Parent Experience of Child Illness (PECI); Patient Reported Outcomes Measurement Information System (PROMISR) anxiety; and PROMISR depression. The Pediatric Quality of Life Inventory (PedsQL) was administered to assess child quality of life (proxy-report). RESULTS: Forty parents (mean age 38.7 ± 5.6 years) of children with HD (mean age 8.0 ± 2.5) participated. Parents expressed greater long-term uncertainty (PECI) and poorer perceived condition management ability (FaMM) than comparator chronic disease cohorts. Other scores for parental adjustment to their child's condition (PECI) and family response (FaMM) were comparable to reference cohorts. Symptoms of anxiety and depression were prevalent in our cohort (52.5 % and 42.5 % respectively); however, the proportion with moderate - severe PROMISR anxiety (χ2 = 2.50, p = 0.114) and depression (χ2 = 0.156, p = 0.693) scores did not significantly differ from the expected population distribution. Proxy-reported child quality of life (PedsQL) was significantly reduced relative to healthy children (p = 0.0003), but comparable to those with physical health problems with special healthcare needs (p = 0.624). CONCLUSIONS: Parents of children with HD experience long-term uncertainty and have poorer perceived condition management ability than parents of children with other chronic childhood illnesses. This work highlights the importance of targeted parental education and support beyond primary surgical management, and provides a benchmark for this cohort, against which subsequent intervention-based studies may be assessed. LEVEL OF EVIDENCE: II.

Health-related quality of life in children with Hirschsprung disease and children with functional constipation: Parent-child variability.

BACKGROUND: Health-related quality of life (HRQOL) is an important outcome among children with Hirschsprung Disease (HD), but there are challenges in interpreting findings in previous studies owing to the choice of a comparator group and informant. We compared parent-proxy versus child self-report HRQOL in children with HD to children with functional constipation (FC) and examined predictors of HRQOL. METHODS: Data of 126 children (5-18 years, 60.3% male, HD: n = 52, FC: n = 74) were acquired from the Pediatric Colorectal and Pelvic Learning Consortium. Demographics, clinical variables, HRQOL (Pediatric Quality of Life Inventory parent-proxy; child self-report) and functional outcomes (Baylor Continence Scale, Cleveland Clinic Constipation Scoring System) were collected. RESULTS: Parent and child HRQOL was similar for both cohorts, with higher scores on physical functioning and lower scores on emotional and school functioning. For children with HD, demographics and clinical variables did not predict HRQOL in multivariable regression models. For children with FC, greater severity of constipation predicted lower HRQOL (parent-proxy: B = -2.14, p < 0.001; child: B = -1.75, p = 0.001). Parent-child agreement on HRQOL scores was poor to moderate in the HD group (intraclass correlations (ICC)=0.38-0.74), but moderate to excellent in the FC group (ICC=0.63-0.84). Furthermore, parents of children with FC and ≤10 years overestimated children's HRQOL (proportional OR 4.59 (1.63, 13.85); p = 0.004). CONCLUSION: Clinical symptoms and demographic factors did not predict HRQOL among children with HD, highlighting the need to examine other biopsychosocial factors to understand long term HRQOL. Low parent-child HRQOL agreement in children with HD demonstrates the importance of obtaining parent and child perspectives. LEVEL OF EVIDENCE: III. TYPE OF STUDY: Prognosis study.

Importance of education and the role of the patient and family in the care of anorectal malformations.

During this early part of the 21st century online technology has prompted many major advances in medical care. In this section we argue that this is particularly evident in the treatment and care of patients born with Anorectal Malformation (ARM) and Hirschsprung's Disease (HD). Our stories show that anyone born with these complex colorectal conditions in the 20th century was destined to a life of isolation and stigma. Here we explore the lack of understanding and recognition of the psychological effects on children and families which has characterised this period. We show that advances in clinical practice has been supported by developing social media platforms. There has been a rapid creation of online support groups for patients and families which has enabled survivors' greater access to patient and parent organizations across the globe and thereby stimulated a sense of belonging and solidarity. Online technology and social media platforms have also opened up the opportunity for pediatric medical professionals to provide a greater level of patient education. There is no doubt families have become much more aware of the complexities of ARM & HD and achieved greater comfort and understanding of their needs. We have generated "lightbulb moments" for pediatric providers with adult ARM & HD patients, enabling them to share their lived experiences in a therapeutic exchange. In the past survivors felt they were abandoned by the adult healthcare system. We are seeing evidence-based research of major psychosocial issues experienced by adult patients and, as a result, improved understanding of how to treat ARM & HD survivors across their whole of life journey. The winds of change continue to direct our cohorts to a mature approach based on improving levels of interactive communication and education. We argue that this maturity has mostly been facilitated by the use of online technology and the ensuing collaboration between providers and patient and parent organizations.

Health-Related Quality of Life and Psychosocial Morbidity in Anorectal Malformation and Hirschsprung's Disease.

Anorectal malformation (ARM) and Hirschsprung's disease (HD) are the most common congenital colorectal anomalies. Despite advances in surgical techniques and improvements in postoperative clinical care, short- and long-term physical and psychosocial morbidity of these patients remains high. This review outlines the current literature on the physical and psychosocial aspects of health-related quality of life (HrQoL) and its confounders in patients with ARM/HD. Moreover, important coping strategies are summarized to further improve HrQoL of ARM/HD patients and their families.

Quality of life and neuropsychological development at school age in Hirschsprung's disease.

PURPOSE: To determine the quality of life and neuropsychological development of school-aged children with Hirschsprung's disease. METHODS: In this observational monocentric study, a multidisciplinary team prospectively assessed quality of life, neuropsychometric development and bowel functional outcomes. This study was registered on ClinicalTrial.gov (NCT03406741). Kidscreen and VSP-A questionnaires assessed the quality of life and were compared to the reference population (Eurostat database). Intelligence, attention and executive functions, perceptual organization and memory were evaluated using the Wechsler Children's Intelligence Scale, the NEuroPSYchological assessment, and the Rey figure test. Bowel functional outcomes were obtained using the Krickenbeck score. RESULTS: Fifteen patients were included, with a mean age of 10.25 years. The children's Kidscreen-assessed quality of life index was higher than the reference population (p = 0.01). The Full-Scale Intelligent Quotient was dissociated in 64% of children. The Perceptional Reasoning Index and the Processing Speed Index were observed at lower levels. There were no disturbances in executive functions. A satisfactory bowel functional outcome was noted in 46.7% of children. CONCLUSION: Children with Hirschsprung's disease have been shown to have subtle decreased performances in some areas of intelligence. Performing a neuropsychological assessment upon entering elementary school could help to detect these specific learning disabilities. LEVELS OF EVIDENCE: Level II, prognosis study.

Swedish national population-based study shows an increased risk of depression among patients with Hirschsprung disease.

AIM: Hirschsprung disease is usually treated during infancy. The long-term impact on mental health has not been well studied. The aim of this study was to assess the risk for depressive disorders in individuals with Hirschsprung disease. METHODS: This was a nationwide, population-based cohort study. The study exposure was Hirschsprung disease and the study outcome was depression. The exposed cohort included all individuals with Hirschsprung disease, registered in the Swedish National Patient Register between 1964 and 2013 and the unexposed cohort included ten age- and sex-matched controls per patient. The diagnosis of depression was confirmed by diagnosis in the Swedish National Patient Register. RESULTS: The cohort included 739 (76.5% males) individuals with Hirschsprung disease and 7390 (76.5% males) controls. Among the patients with Hirschsprung disease, 35 (4.7%) of the patients had had a depressive disorder and 187 (2.5%) of controls, hazard ratio 1.98, 95% confidence interval 1.38-2.84. The mean age at diagnosis of first depression was 21.9 years (SD ± 7) in Hirschsprung disease patients and 23.4 years (SD ± 7), p = 0.236 in the unexposed group. There were no significant gender differences. CONCLUSION: We found an increased risk of having depressive disorders among individuals with Hirschsprung disease compared to controls.

Long-term Outcome of Hirschsprung Disease: Impact on Quality of Life and Social Condition at Adult Age.

BACKGROUND: Hirschsprung disease is a rare congenital disease typically requiring surgical treatment during childhood. Quality of life and social condition at adult age can be impaired by disease-specific sequelae. OBJECTIVE: This study aimed to assess the quality of life and social outcome of adult patients operated on for Hirschsprung disease during childhood. DESIGN: Patients operated on for Hirschsprung disease during childhood were identified and specific questionnaires were sent to them. SETTINGS: Data from 2 referral centers were used. PATIENTS: Patients who completed the questionnaires regarding quality of life and social condition were included. MAIN OUTCOME MEASURES: The Hirschsprung's Disease and Anorectal Malformations Quality of Life disease-specific questionnaire (8 dimensions explored; each scored from 0 to 100 maximum score) and a sociodemographic questionnaire were sent to identified patients. Sociodemographic data were compared with those of the French general population. RESULTS: Thirty-four patients had Hirschsprung disease (men, 76%; mean age, 32 years) were included in the study. Mean total Hirschsprung's Disease and Anorectal Malformations Quality of Life score was 611 of 800 (maximum score 800). The 2 most impaired dimensions were "physical symptoms" and "diarrhea" (62.9/100 and 73.6/100). Fecal continence was only marginally affected (mean score, 89/100). Patients with Hirschsprung disease achieved better educational levels than the French general population. Parental and marital status did not differ between the 2 groups. LIMITATIONS: This study had the limitations inherent to a retrospective study. CONCLUSION: The quality of life of adult patients with Hirschsprung disease sequelae is marginally impaired in this study. Despite the consequences of this congenital abnormality, the condition eventually achieved can be considered as satisfactory. See Video Abstract at http://links.lww.com/DCR/A917.

No increased risk of attention deficit hyperactivity disorders in patients with Hirschsprung disease.

PURPOSE: Hirschsprung disease (HSCR) has previously been associated with increased need of special education services despite normal intelligence. The aim of this study was to assess the risk of attention deficit hyperactivity disorders (ADHD) in individuals with HSCR in a population-based cohort. METHODS: This was a nationwide, population-based cohort study. The study exposure was HSCR and the study outcome was ADHD. The cohort included all individuals with HSCR registered in the Swedish National Patient Register between 1964 and 2013 and ten age- and sex-matched controls per patient, randomly selected from the Population Register. RESULTS: The cohort comprised 739 individuals with HSCR and 7390 controls. Twenty-six of the 739 individuals with HSCR and 202 of the 7390 controls were diagnosed with ADHD, Odds ratio (OR) 1.30, Confidence interval (CI) 95% 0.84-1.93, indicating no difference in risk for ADHD. The mean age at diagnosis of ADHD was not different between the groups; 18.1 years (SD 8.4) vs 16.7 years (SD 7.8), p = 0.39. Down syndrome did not affect the risk for ADHD, OR 2.26 (CI 95% 0.68-5.53). Female gender decreased the risk for ADHD, OR 0.58 (CI 95% 0.40-0.83). CONCLUSIONS: There is no increased risk of ADHD in patients with Hirschsprung disease. LEVEL OF EVIDENCE: Prognosis study, level of evidence: Level I.

The long-term quality of life outcomes in adolescents with Hirschsprung disease.

BACKGROUND: Postoperative outcomes for Hirschsprung disease (HD) remain variable, with many patients affected by constipation and/or fecal incontinence. The long-term impact upon quality of life (QoL) for HD patients is unclear. We measured long-term QoL outcomes in adolescents with HD using validated questionnaires. METHODS: Patients with HD, managed at a large tertiary pediatric institution between 1997 and 2004, were identified. Patients and/or their proxy completed validated questionnaires. Results were compared with published healthy population controls. Two questionnaires assessed QoL: Pediatric Quality of Life Inventory (PedsQL) and Fecal Incontinence and Constipation Quality of Life (FICQOL). Three measures assessed functional outcomes: Baylor Continence Scale, Cleveland Clinic Constipation Scoring System, and Vancouver Dysfunctional Elimination Symptom Survey. RESULTS: Interviews were completed for 58 (70% response rate) patients [M:F, 49:9; median age, 14.5 years (11.1-18.7)]. No significant differences were found in general QoL scores between patients and healthy controls (84.84 versus 81.49, p = 0.28). Disease-specific questionnaires revealed reduced QoL in patients and families, with 17% of parents reporting the bowel dysfunction stopped their child from socializing and 47% of parents experiencing some degree of anxiety/depression regarding their child's bowel condition. Fecal incontinence (r = -0.59, p < 0.01), constipation (r = -0.36, p = 0.01), and dysfunctional elimination (r = -0.59, p < 0.01) all negatively correlated with QoL scores. CONCLUSIONS: In this study, generic QoL in the adolescent HD population was comparable to healthy populations. However, children with HD have ongoing bowel dysfunction which negatively impacts upon their QoL. LEVEL OF EVIDENCE: Prognosis study:- level II (prospective cohort study).

Long-term outcome and quality of life in patients with total colonic aganglionosis in the Netherlands.

AIM: Total colonic aganglionosis (TCA) is a severe form of Hirschsprung's disease (HD) associated with a high morbidity. This study assessed long-term functional outcome and quality of life (QoL) of patients with TCA in a national consecutive cohort. METHODS: Surgical and demographic characteristics in the medical records of all patients (n = 53) diagnosed with TCA between 1995 and 2015 were reviewed. Functional outcome of all nonsyndromal patients, aged ≥ 4 years (n = 35), was assessed using a questionnaire and in medical records. Generic and disease-specific QoL were assessed using standardized validated questionnaires. RESULTS: Of 35 patients eligible for follow-up, 18 (51%) responded to the questionnaires. They were aged 4-19 years. A Duhamel procedure was performed in 67% of these patients and a Rehbein procedure was performed in 33%. In the questionnaire, 65% of the patients reported constipation, 47% faecal incontinence and 53% soiling. Moreover, 18% of patients used bowel management (flushing or laxatives) and 29% had an adapted diet only. Children and adolescents with TCA had worse perception of their general health and were more limited by bodily pain and discomfort compared with healthy peers. Their quality of life is influenced most by frequent complaints of diarrhoea and other physical symptoms. CONCLUSION: Children and adolescents with TCA report lower health-related QoL compared with healthy peers, especially in the physical domain. We suggest standardized follow-up and prospective longitudinal future research on functionality and QoL of these patients.

Anorectal malformation & Hirschsprung's disease: A cross-sectional comparison of quality of life and bowel function to healthy controls.

BACKGROUND: Patients with anorectal malformation (ARM) and Hirschsprung's disease (HD) face long-term disturbance in bowel function even after definitive surgery. This study evaluates the quality of life (QOL) of patients with ARM and HD, and compares them to healthy controls using self-report questionnaires. METHODOLOGY: A prospective study was performed recruiting patients with ARM or HD from September 2013 to December 2014 who had primary surgery done in our institution at least 2 years prior to participation. Age-matched and gender-matched controls were enrolled from our patients with minor outpatient complaints. All participants completed the following PedsQL™ scales (maximum score 100): 4.0 Generic Core Scales, 3.0 General Well-Being (GWB) Scale and 2.0 Family Impact (FI) Module. All were also scored on bowel function (BFS), with a maximum score 20. Appropriate statistical analysis was performed, with significance level <0.05. RESULTS: There were 193 participants: 87 controls, 62 ARM, 44 HD. When comparing Core, GWB and FI scores, there were no significant differences between groups although controls had best scores indicating best QOL and general wellbeing, with least impact of the child's health on the family. BFS was significantly different with controls having best and ARM worst scores. There were no significant differences in scores between parent and child indicating intradyad consistency. There was significant positive correlation between BFS and Core (p<0.0001), and between BFS and GWB scores (p<0.005); and significant negative correlation between BFS and FI scores (p<0.0001). CONCLUSIONS: Bowel function impacts quality of life. Those with ARM and HD can achieve good quality of life comparable to controls, based on patient and caregiver self-reported outcomes. TYPE OF STUDY: Prospective comparative study LEVEL OF EVIDENCE: Level II.

Understanding Experiences of Youth Growing Up with Anorectal Malformation or Hirschsprung's Disease to Inform Transition Care: A Qualitative In-Depth Interview Study.

INTRODUCTION: The impact of anorectal malformation (ARM) or Hirschsprung's disease (HD) in children continues into adulthood despite early surgical correction. We aimed to explore the physical, social, and emotional impacts of these conditions on youth to inform best transition care strategies. MATERIALS AND METHODS: Eligible participants were those aged between 14 and 21 years who had undergone surgery for ARM/HD in our institution. We conducted one-on-one in-depth interviews to saturation using a question guide developed from literature review and clinician expertise. Deidentified transcripts were coded by four coders (two pediatric surgeons, one psychiatrist, and one qualitative expert) for major themes using a constant comparison approach. A theoretical model for understanding the transition experience was developed using grounded theory. RESULTS: Out of 120 patients identified as eligible, 11 youth (6 males) participated in the study. Interviews lasted from 50 to 60 minutes. Four major themes emerged: (1) social support (subthemes: family as core, friends as outer support), (2) cognitive and emotional change (subthemes: realization/recognition of illness, matching emotional response), (3) impact of physical symptoms (subthemes: adverse effects of abnormal bowel habits, gaining bowel continence control leading to overall feeling of control, need to keep disease private), and (4) healthcare providers (viewed as important information sources). Themes did not differ by gender. CONCLUSION: Our model suggests that participants' understanding of bowel disease evolved over time with a "lightbulb" moment in preteens or early teens accompanied by increasing disease ownership and self-management. Clinicians should independently engage with patients in late childhood to address evolving emotional and information needs and encourage increasing autonomy. Future studies should explore communication approaches to meet transition needs of patients.

Transitions in care from pediatric to adult general surgery: Evaluating an unmet need for patients with anorectal malformation and Hirschsprung disease.

BACKGROUND: The provision of timely and comprehensive transition of care from pediatric to adult surgical providers for patients who have undergone childhood operations remains a challenge. Understanding the barriers to transition from a patient and family perspective may improve this process. METHODS: A cross-sectional survey was conducted of patients with a history of anorectal malformation (ARM) or Hirschsprung Disease (HD) and their families. The web-based survey was administered through two support groups dedicated to the needs of individuals born with these congenital abnormalities. Categorical variables were compared using Chi-squared and Fisher's exact test with Student's t test and ANOVA for continuous variables. RESULTS: A total of 118 surveys were completed (approximately 26.2% response). The average age of patients at time of survey was 12.3years (SD 11.6) with 64.5% less than 15years old. The primary diagnosis was reported for 78.8% patients and included HD (29.0%), ARM (61.3%), and cloaca (9.7%). The average distance traveled for ongoing care was 186.6miles (SD 278.3) with 40.9% of patients traveling ≥30miles; the distance was statistically significantly greater for patients with ARM (p<0.001). With regards to ongoing symptoms, 44.1% experience constipation, 40.9% experience diarrhea, and approximately 40.9% require chronic medication for management of bowel symptoms; only 3 respondents (3.2%) reported fecal incontinence. The majority of patients, 52.7% reported being seen by a provider at least twice per year and the majority continued to be followed by a pediatric provider, consistent with the majority of the cohort being less than 18years of age. Conversations with providers regarding transitioning to an adult physician had occurred in fewer than 13% of patients. The most commonly cited barrier to transition was the perception that adult providers would be ill-equipped to manage the persistent bowel symptoms. CONCLUSION: Patients undergoing childhood procedures for ARM or HD have a high prevalence of ongoing symptoms related to bowel function but very few have had conversations regarding transitions in care. Early implementation of transitional care plans and engagement of adult providers are imperative to transitions and may confer long-term health benefits in this patient population. LEVEL OF EVIDENCE: Level IV, case series with no comparison group.

Quality of life outcomes in children with Hirschsprung disease.

BACKGROUND: Morbidity following repair of Hirschsprung disease (HD) is common. However, quality of life (QoL) results focused on HD children are contradictory. We aimed to measure QoL outcomes in HD children using validated questionnaires. METHODS: Patients with HD, managed at a large tertiary pediatric institution between 2004 and 2013, were identified. Parents completed validated questionnaires. Results were compared with published healthy population controls. QoL outcomes were measured using Pediatric Quality of Life (PedsQL) and Fecal Incontinence and Constipation Quality of Life (FIC QOL). Functional outcomes were assessed using Baylor Continence Scale, Cleveland Clinic Constipation Scoring System, and Vancouver Dysfunctional Elimination Syndrome Survey. RESULTS: Parents of 60 HD patients [M:F 49:11; median age 6.4years (2.3-10.9)] were interviewed (59% participation). The majority (47/60, 78%) had rectosigmoid disease. There was significant reduction in psychosocial (social and emotional) QoL compared with healthy children (p=0.03). Psychosocial functioning was affected by increasing age (r=-2.72, p<0.001), fecal incontinence (r=-0.475, p=0.007), constipation (r=-1.58, p=0.006), and dysfunctional elimination (r=-2.94, p=0.004). Fecal incontinence also reduced physical functioning QoL (r=-0.306, p=0.007). Children with HD had significantly higher levels of fecal incontinence (p<0.01). CONCLUSIONS: We have demonstrated that HD children have significant reductions in psychosocial QoL and functional outcomes. LEVEL OF EVIDENCE: Prognosis Study - Level II (Prospective cohort study).