Transitional Care for Patients with Congenital Colorectal Diseases: An EUPSA Network Office, ERNICA, and eUROGEN Joint Venture.

BACKGROUND: Transition of care (TOC; from childhood into adulthood) of patients with anorectal malformations (ARM) and Hirschsprung disease (HD) ensures continuation of care for these patients. The aim of this international study was to assess the current status of TOC and adult care (AC) programs for patients with ARM and HD. METHODS: A survey was developed by members of EUPSA, ERN eUROGEN, and ERNICA, including patient representatives (ePAGs), comprising of four domains: general information, general questions about transition to adulthood, and disease-specific questions regarding TOC and AC programs. Recruitment of centres was done by the ERNs and EUPSA, using mailing lists and social media accounts. Only descriptive statistics were reported. RESULTS: In total, 82 centres from 21 different countries entered the survey. Approximately half of them were ERN network members. Seventy-two centres (87.8%) had a self-reported area of expertise for both ARM and HD. Specific TOC programs were installed in 44% of the centres and AC programs in 31% of these centres. When comparing centres, wide variation was observed in the content of the programs. CONCLUSION: Despite the awareness of the importance of TOC and AC programs, these programs were installed in less than 50% of the participating centres. Various transition and AC programs were applied, with considerable heterogeneity in implementation, content and responsible caregivers involved. Sharing best practice examples and taking into account local and National Health Care Programs might lead to a better continuation of care in the future. LEVEL OF EVIDENCE: III.

The Transition of Care for Patients with Anorectal Malformations and Hirschsprung Disease: A European Survey.

This study aimed at evaluating how transition of care is currently being organized in the European Reference Networks (ERNs) health care providers (HCPs) in pediatric areas and in the Anorectal Malformation Network (ARM-Net) Consortium hospitals. An online questionnaire was sent to a total of 80 surgeons, members of or affiliated members of three networks: ARM-Net Consortium, ERN eUROGEN, and ERN ERNICA. Complete information were obtained for 45 HCPs, most of which deal with transition and still see a few adult patients (ca. 10%). Gynecological, gastroenterological, urological, colorectal, and continence issues were the major problems described by adult patients to their physicians, and in line with these prevalent complaints, they are referred to the appropriate adult specialists. Forty percent of patients complain about sexual and fertility problems, but the percentage of andrologists and sexologists involved in the caring of adult patients with ARM/Hirschsprung's disease is low, just above 10.9%. Most hospitals deal with transition, but three basic criteria (i.e., presence of: [1] an official written transitional program, [2] a transitional coordinator, and [3] written information on transition to be handled to patients) are jointly met only by six HCPs. According to the responders, the most important issue requiring improvement is the lack of interest and of specific preparation by adult specialists. The overall results of this exploratory survey confirm the need for the development of comprehensive programs for transition in these rare and complex diseases, and identify the hospitals that, in collaboration with the networks, could share best practices in organizing structured transitional pathways and well follow-ups.

Urological Impact of Epididymo-orchitis in Patients with Anorectal Malformation: An ARM-Net Consortium Study.

INTRODUCTION: To investigate the current experience of the ARM-Net Consortium in the management of epididymo-orchitis (EO) in patients with anorectal malformations (ARMs), and to identify specific risk factors and the need for urological care involvement. MATERIALS AND METHODS: We retrospectively collected data of EO in patients with ARM between 2015 and 2019. Data on urological aspects, ARM type, surgical approach, associated anomalies, diagnosis, and treatment of EO were collected and analyzed. RESULTS: Twenty-nine patients were reported by 12 centers. Twenty-six patients with EO (90%) had ARM with a rectourinary fistula. Median age at first EO was 2 years (range: 15 days-27 years). Twenty patients (69%) experienced multiple EO, and 60% of recurrences were ipsilateral. Associated urological anomalies included vesicoureteral reflux (48%), urethral anomalies (41%), neurogenic bladder (41%), and ectopic vas (10%). A positive urine culture during EO was present in 69%. EO was treated with antibiotics (90%), limiting surgical exploration to 14%. Prevention of recurrences included surgery (bulking agents 15%, vasectomy 15%, and orchiectomy 5%) and antibiotic prophylaxis (20%). CONCLUSION: Urologists may encounter patients with EO in ARM patients, frequently with positive urine culture. An appropriate urologic work-up for most ARM patients is necessary to identify and treat underlying risk factors. A practical scheme for the work-up is suggested for a close collaboration between pediatric surgeons and urologists.

Ongoing care for the patient with an anorectal malfromation; transitioning to adulthood.

Planned health care transition can improve the ability of young adults to manage their own health care to effecively use health services and ultimately maximize life-long functioning and well-being. Transitional care is a purposeful, planned process that addresses the medical, psychosocial and educational needs of adolescents and young adults with chronic physical and medical conditions as they move from child-centered to adult-oriented healthcare systems. Unsuccessful surgical transtion may result in physical and mental health implications for young patients, negative long-term outcomes and suboptimal use of health care resources. Anorectal malformation and Hirschsprung patients are an especially vulnerable patient population with ongoing surgical, physiologic and pyschosocial challenges.

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.

Positive Orientation and Health-related Quality of Life in Adult Patients Born With Anorectal Malformations.

OBJECTIVES: Anorectal malformations (ARMs) are rare congenital colorectal anomalies, which may have a negative impact on health-related quality of life (HRQoL) due to long-lasting consequences, like fecal incontinence. The aim of the present study was to test whether a pervasive mode of appraising and viewing life experiences from a positive stance (ie, positivity) mediates the effect of fecal continence on HRQoL. METHODS: Participants were enrolled from the Italian Association for Anorectal Malformations. Adult patients with ARMs who completed measures of fecal continence (Hirschsprung Disease/Anorectal Malformation Quality of Life Questionnaire), positivity (Life Satisfaction Scale, Rosenberg Self-esteem Scale, and Life Orientation Test), and mental/physical HRQoL (SF-36) were included. Data were analyzed using the PROCESS macro for SPSS statistical software (Model 4). RESULTS: The study included 66 adult patients with ARMs. Mediated regression analyses showed a significant total effect in which patients with higher fecal continence perceived higher physical (ß = 0.210, SE = 0.038, 95% CI [0.133, 0.286]) and mental HRQoL (ß = 0.226, SE = 0.056, 95% CI [0.115, 0.338]) than patients with lower fecal continence. The indirect effects were also significant, indicating that positivity mediated the impact of fecal continence on physical (ß = 0.026, SE = 0.017, 95% CI [0.002, 0.068]), and mental HRQoL (ß = 0.146, SE = 0.058, 95% CI [0.047, 0.275]). CONCLUSIONS: The findings extend previous literature on ARM patients and additional evidence that an optimistic view of oneself, one's life, and one's future contribute to explain the effects of functional impairments on quality of life.

Sexual well-being in adolescent and young adults born with arm: the perspective of the patients.

PURPOSE: Sexual well-being and sexual functioning are understudied in patients born with ARM. The aim of this exploratory study was to investigate sexual history, main fears, and problems encountered during sexual relationships. METHODS: Before participating in a sexual education intervention, 21 adolescents or young adults (12 males; mean 28.8; SD 10.6) born with ARM, answered a ten-item questionnaire specifically developed to evaluate sexual well-being. Percentages and Chi-square were calculated. RESULTS: 52.4% were married/had a partner. The majority (71%) declared that had sexual relationships. Mean age of the first sexual relationship was 18.8 (2.7) and 22.7 (3.8) for males and females, respectively. Females reported both more fear and experience of pain during sexual intercourse, compared to males. Main experienced problems and fears for male patients were loss of feces and premature ejaculation, followed by the fear of lack of erection and managing contraception. Main experienced problems and fears in females were loss of feces, pain, lack of desire, and lack of lubrication. In only few cases, patients asked for advices to a pediatric surgeon or to an adult surgeon specialized in ARM. CONCLUSIONS: Adult and adolescent patients may benefit of andrological/gynecological evaluation, psychological support, and sexual counseling to improve their sexual well-being.

Transition of care in patients with anorectal malformations: Consensus by the ARM-net consortium.

OBJECTIVES: To develop the first consensus to standardize the management of patients with Anorectal Malformations (ARMs) transitioning from childhood to adulthood. METHODS: A dedicated task force of experts performed an extensive literature review and multiple meetings to define the most important aspects of transition of care. The findings were discussed with all ARM-net consortium members and a set of practical recommendations agreed upon at the annual meeting in 2016. RESULT: We defined seven domains that are essential to provide an effective and practical transition process. Within each domain we have developed a set of key recommendations that are important to be considered for ARM patients entering the age of transition. CONCLUSIONS: It is crucial that transition begins at an early age with regular and well-structured follow-up. Cooperation with a selected multidisciplinary team of pediatric and adult practitioners is required to prepare patients and families for effective transition to adult care and to reduce long term morbidity. TYPE OF STUDY: Review/Consensus paper. LEVEL OF EVIDENCE: III.

The Challenges of the European Anorectal Malformations-Net Registry.

Anorectal malformations (ARM) have a low prevalence, patients need specialized surgical care, and in many cases, patients born with ARM even need life-long aftercare. Due to its low prevalence most patients are still treated in low-volume pediatric surgical centers without any adequate monitoring of the outcome. Data on prevalence, comparison of different surgical techniques, and prospective outcome measurements are still scarce and difficult to interpret. In 2010, a consortium was founded (ARM-Net consortium) including several European pediatric surgical centers to collaborate more in research and share knowledge on ARM. One of the structures started by the consortium was an ARM-Net registry for the inclusion of all future patients treated in these centers. With this review, we report the structure of the ARM-Net registry, some of the results, and discuss the challenges we faced and still face after its introduction in 2010.

First results of a European multi-center registry of patients with anorectal malformations.

BACKGROUND: The European consortium on anorectal malformations (ARM-NET) was established to improve the health care of patients and to identify genetic and environmental risk factors. The aim of the present study was to present the first results on clinical data of a large European cohort of ARM patients based on our registry. METHODS: In 2010, the registry was established including patient characteristics and data on diagnosis, surgical therapy, and outcome regarding complications. Patients born between 2007 and 2012 were retrospectively added. A descriptive analysis of this cohort was performed. RESULTS: Two hundred and three ARM patients were included. Syndromes or chromosomal abnormalities were present in 9%. Perineal fistulas were seen most in boys (42%) and girls (29%). Rare forms of ARM were found in 4% of the male and in 14% of the female patients. Forty-five percent of the patients had additional urogenital abnormalities. However, 32% of the patients were never screened for bladder abnormalities. Eight percent were never screened for renal malformations. In the majority of patients (79%), a PSARP was performed for the definitive reconstruction. CONCLUSION: This collaborative effort provides a representative basis to estimate incidence of ARM types, to discuss differences and similarities in treatment, and health consequences throughout Europe.

Long-term disease-specific quality of life in children and adolescent patients with ARM.

BACKGROUND: The main aim of the present study was to investigate how fecal incontinence might influence different aspects of quality of life (QOL) in children and adolescents with anorectal malformations (ARMs). We considered both the influence of fecal incontinence at time 1 of the study and the influence of fecal incontinence at time 2 (4 years later) on QOL measured at time 2. METHODS: A total of 175 parents from the Italian Parents' and Patients' Association for Anorectal Malformations completed a questionnaire about fecal incontinence in their children at time 1 of the study. Four years later, 97 of these parents completed the Hirschsprung Disease/Anorectal Malformation Quality of Life questionnaire. Patient ages ranged from 4 to 17 years. Quality of life areas from the Hirschsprung Disease/Anorectal Malformation Quality of Life questionnaire were considered as outcome variables in a hierarchical regression analyses where fecal incontinence at time 1 and at time 2 served as predictors. RESULTS: The principal findings indicated that fecal incontinence at time 2 significantly predicted constipating diet, presence of diarrhea, urinary continence, social functioning, emotional functioning, body image, and physical symptoms, also when severity of the malformation was taken into account. CONCLUSIONS: It is extremely important that pediatric surgeons continue to promote effective bowel management programs and that they work with other specialists and support associations to offer emotional and psychological support to patients with ARM and their families.

Long-term disease-specific quality of life in adult anorectal malformation patients.

BACKGROUND: Fecal and urinary incontinence may differently influence various aspects of quality of life (QOL). The main aim of the present study is to determine whether fecal and urinary incontinence measured at time 1 of the study will predict QOL at time 2 (after 4 years), above and beyond the prediction already explained by fecal and urinary incontinence at time 2. METHODS: Thirty-six adult patients from the Italian Parents' and Patients' Association for Anorectal Malformations answered items about urinary and fecal incontinence at time 1 of the study and completed the Hirschsprung Disease/Anorectal Malformation Quality of Life questionnaire after 4 years from the first questionnaire. Two sets of hierarchical regression analyses were conducted with fecal and urinary incontinence serving as predictors of QOL and the different areas of QOL from the Hirschsprung Disease/Anorectal Malformation Quality of Life serving as outcome variables. RESULTS: The principal findings indicated that fecal continence is a strong predictor of QOL in the areas of social functioning, emotional functioning, and body image and that urinary incontinence predicted sexual functioning. CONCLUSIONS: It seems that one's past experience with fecal incontinence is extremely relevant to current QOL, especially for body image. Urinary incontinence contributed less in explaining QOL in our patients, but because it is very relevant for sexual functioning, it should not be disregarded.

Disease-specific quality of life in children and adults with anorectal malformations.

PURPOSE: The aim of the present study was to analyze disease-specific quality of life, as assessed by the Hirsch-sprung Disease/Anorectal Malformation Quality of Life (HAQL) questionnaire, in children and adults with ano-rectal malformations (ARM). METHODS: As much as 175 children and 62 adults who were members of the Italian Association for Anorectal Malformations were asked to complete the Italian version of the HAQL questionnaire developed for this study. For children under 16 years of age, mothers were asked to fill up the questionnaires. Patients were also asked to identify their type of malformation from a list of eight choices. RESULTS: Most subscales of the Italian HAQL had acceptable reliability. Compared to children, adults reported significantly lower levels of QL on subscales measuring emotional functioning, body image, and physical symptoms. CONCLUSIONS: Longitudinal studies are needed to clarify whether these results can be attributed to improvements in surgical techniques that have contributed to improved QL in younger cohorts, or if, instead, quality of life in patients with ARM decreases over time. Intervention efforts should focus on bowel management and psychological treatment for ARM-related emotional and body image distress.

Disease-specific quality of life in children and adults with anorectal malformations.

PURPOSE: The aim of the present study was to analyze disease-specific quality of life, as assessed by the Hirschsprung Disease/Anorectal Malformation Quality of Life (HAQL) questionnaire, in children and adults with anorectal malformations (ARM). METHODS: As much as 175 children and 62 adults who were members of the Italian Association for Anorectal Malformations were asked to complete the Italian version of the HAQL questionnaire developed for this study. For children under 16 years of age, mothers were asked to fill up the questionnaires. Patients were also asked to indentify their type of malformation from a list of eight choices. RESULTS: Most subscales of the Italian HAQL had acceptable reliability. Compared to children, adults reported significantly lower levels of QL on subscales measuring emotional functioning, body image, and physical symptoms. CONCLUSIONS: Longitudinal studies are needed to clarify whether these results can be attributed to improvements in surgical techniques that have contributed to improved QL in younger cohorts, or if, instead, quality of life in patients with ARM decreases over time. Intervention efforts should focus on bowel management and psychological treatment for ARM-related emotional and body image distress.

Self-efficacy, postoperative care satisfaction, body image and sexual functioning in ARM patients.

INTRODUCTION: Several studies indicate that self-efficacy may have profound positive effects on health promotion, clinical practice and other outcomes, like patients' satisfaction and quality of life. However no studies on self-efficacy have been conducted in anorectal malformation (ARM) patients. Aim of the present study is to analyze the relationships between self-efficacy and satisfaction with postoperative care in ARM patients or in their parents and between self-efficacy, body image and sexual functioning in adult ARM patients. MATERIAL AND METHODS: A total of 237 patients from 2 to 49 years old (mean age = 13.35 years old) participated in the study. Questionnaires were sent to members of the Italian Association for Anorectal Malformation (AIMAR) by ordinary mail. All subjects were asked to fill in the AIMAR questionnaire in which information about the perceived severity of malformation and postoperative care satisfaction were collected. For patients under 16 years old, parents were asked to fill in a questionnaire and a parent self-efficacy scale concerning the perceived ability to overcome possible difficulties related to ARM. Participants above 16 years of age were asked to fill in the questionnaire, a self-efficacy scale and some body image and sexual functioning items. RESULTS: The main findings indicate that those patients who feel more efficacious are those who feel less embarrassed and shame about their body, feel less frequently unsatisfied of their body and their physical condition, and have the perception to be less limited in their sexual activities. Considering patients under 16 years old, results indicate that more parents feel efficacious, the more they are satisfied of the postoperative care, especially of some health care providers. CONCLUSIONS: In ARM patients self-efficacy and parents self efficacy are correlated to important outcomes, respectively body image and sexual functioning in adults and postoperative care satisfaction in parents of those under 16 years old. Future longitudinal studies are needed to evaluate causal relations between the concepts considered.

Follow-up of anorectal anomalies: the Italian parents' and patients' perspective.

BACKGROUND: Several studies addressed the long-term follow-up of anorectal anomalies (ARM) in relation to clinical issues (eg, continence) and quality of life. However, most of these studies are based upon questionnaires designed by physicians and/or health-care professionals, which may be sources of bias. METHODS: To investigate whether parents of children (patients themselves or older children or adults) who were born with ARM had the perception that they received appropriate care and follow-up, a survey was carried out in Italy, in 2003, among families with children with ARM. A 20-item questionnaire was mailed to 425 patients and parents listed in the AIMAR (Italian association for anorectal malformation) database and was returned by 209 families. The questionnaire covered different aspects of ARM: type of malformations and surgery, associated anomalies, fecal and urinary continence, as well as aspects about information given to the parents and satisfaction of care and follow-up received. RESULT: The patients and parents demonstrated a good understanding of distribution of malformations and their anatomical classification; nevertheless, 67% of responders had to travel outside their living area for surgery. Bowel management (BM) was commonly used among subjects; however, a significant percentage of patients using regular enemas were still soiling (58 patients were clean and 116 soiled). Urinary continence problems were mostly found in females with cloaca; nevertheless, 21 male patients reported occasional dribbling of difficult interpretation. Most subjects were provided with a good explanation about their or their child's malformation at time of reconstructive surgery, but the same level of information was missing about functional prognosis later in life when the need of an appropriate psychologic support was also felt. CONCLUSIONS: Patients and parents born with ARM are generally satisfied with the information received and with the short-term postreconstructive follow-up care. At longer follow-up, although more than a quarter of patients are completely clean, there is a significant percentage of subjects who still soil while following a BM program. This is explained by the small number of nurses and BM specialists who are involved in the rehabilitation process and by the lack of appropriate information about functional prognosis that are conveyed to the parents. In this respect, psychologic support in bridging the gap between cure and care may be critical.