Abstract
Introduction: Medical needs of adults with anorectal malformations (ARM) and the exstrophy-epispadias complex (EEC) are not fully understood. Therefore, the aim of the study was to evaluate how affected individuals get along with the current national medical care and what their medical or social long-term requirements are.Patients and Methods: Between 11/2014-07/2016 all adult members (≥18 years, ARM n = 113, EEC n = 126) of the German self-help organizations SoMA e.V. and Blasenekstrophie/Epispadie e.V. were contacted via email or post and asked to fill out an anonymous online questionnaire regarding medical requirements, treatment satisfaction, daily life impairment and expectations regarding physicians soft skills. The results were compared between both groups and male and female participants.Results: 56 participants with ARM (median age 26 years, IQR 19-38) and 52 participants with EEC (median age 31 years, IQR 22-37) filled in the questionnaire completely. Forty-five percent of the ARM and 67% of the EEC participants contacted an urologist. A general surgeon was visited by 23% of the ARM individuals, a peadiatric surgeon by 20%. Although 60% of the females with ARM and 82% of the females with EEC assessed gynecological counseling as helpful or neutral, a small subgroup of ARM females (n = 6, 16%; 70% non-isolated ARM or ARM with Hirschsprung disease and additional associated anomalies) were not satisfied. The majority of both groups reported no or only minor daily life impairment (p = 0.38). Professional knowledge, paying attention to patients' concerns, having empathy and taking enough time was important for over 90% of all participants. Thirty-eight percent of the ARM and 27% of the EEC individuals needed psychological support. Most medical consultations were judged to be helpful.Conclusion: Although adults with ARM and EEC being a self-help organization member and thus well informed and generally cope well, participants expressed their wish for expert counseling regarding family planning, reconstructive procedures, continence management, urological care and social welfare issues. Furthermore, specific expert consultations for gynecological issues in a subgroup of ARM females, mainly non-isolated, might be required. Actual needs of adults with rare conditions must be better clarified to improve medical care beyond childhood and adolescence.
Highlights
Medical needs of adults with anorectal malformations (ARM) and the exstrophy-epispadias complex (EEC) are not fully understood
As the aim of the study was to explore the medical support in everyday life, participants got the advice not to refer to medical specialists they might have met at self-help group meetings
Eighty-four individuals with ARM and 72 individuals with EEC participated in this study
Summary
Medical needs of adults with anorectal malformations (ARM) and the exstrophy-epispadias complex (EEC) are not fully understood. There is no doubt that long-term medical care is crucial for individuals with rare congenital anomalies, such as anorectal malformations (ARM) and exstrophy-epispadias complex (EEC). There is growing evidence that long-term care does improve satisfaction and quality of life (QoL) of the affected individuals, and reduces complications and morbidity [1,2,3]. From physicians’ perspective there is an increasing knowledge in literature reviews about “what to expect in adult life” for urological congenital conditions such as posterior urethral valves, EEC, hypospadias, spina bifida and Klinefelter‘s syndrome with a primary focus on long-term complications or their prevention [4,5,6,7,8,9]. From physicians and physicians societies perspective and in the view of health care policy there is still an ongoing debate about which physician should take care for patients with congenital conditions and how these physicians should be trained for providing adequate support during and after transition [12, 13]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
