Data_Sheet_3_Needs Assessment in Care of Adults With Anorectal Malformations and Exstrophy-Epispadias Complex in Germany.PDF

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.

引言：肛门直肠畸形（anorectal malformations, ARM）与泄殖腔外翻-尿道上裂复合体（exstrophy-epispadias complex, EEC）成年患者的医疗需求尚未得到充分阐明。因此，本研究旨在评估此类患者对当前国家医疗服务的适配情况，以及其长期医疗与社会需求。

患者与方法：2014年11月至2016年7月期间，研究团队通过电子邮件或邮寄方式联系了德国自助组织SoMA e.V.与Blasenekstrophie/Epispadie e.V.的所有成年会员（年龄≥18岁，其中肛门直肠畸形组113例，泄殖腔外翻-尿道上裂复合体组126例），邀请其填写匿名在线问卷，内容涵盖医疗需求、治疗满意度、日常生活受影响程度以及对医师软技能的期待。随后对两组及不同性别受试者的结果进行对比分析。

结果：最终共有56名肛门直肠畸形成年患者（中位年龄26岁，四分位间距19~38岁）与52名泄殖腔外翻-尿道上裂复合体成年患者（中位年龄31岁，四分位间距22~37岁）完成了全部问卷。其中，45%的肛门直肠畸形患者与67%的泄殖腔外翻-尿道上裂复合体患者曾就诊于泌尿科医师；23%的肛门直肠畸形患者就诊于普通外科医师，20%就诊于儿科外科医师。尽管60%的肛门直肠畸形女性患者与82%的泄殖腔外翻-尿道上裂复合体女性患者认为妇科咨询具有帮助或无负面影响，但仍有一小部分肛门直肠畸形女性亚组（n=6，占比16%；其中70%为非孤立性肛门直肠畸形，或合并先天性巨结肠及其他相关异常）表示不满意。两组大多数受试者报告日常生活未受影响或仅存在轻微影响（p=0.38）。超过90%的所有受试者均认为，医师的专业知识、关注患者诉求、具备同理心以及给予充足诊疗时间十分重要。38%的肛门直肠畸形患者与27%的泄殖腔外翻-尿道上裂复合体患者需要心理支持。大多数医疗就诊均被评价为具有帮助性。

结论：尽管肛门直肠畸形与泄殖腔外翻-尿道上裂复合体的成年患者均为自助组织会员，信息获取充分且整体适应情况良好，但受试者仍表达了对专业咨询的需求，涉及计划生育、修复重建手术、控尿管理、泌尿专科护理以及社会福利等议题。此外，针对部分亚组的肛门直肠畸形女性患者（主要为非孤立性病例），可能需要提供妇科相关的专属专科咨询服务。对于罕见疾病成年患者的真实需求，亟需进一步明确，以优化儿童期与青春期之后的医疗照护质量。