Center for Pediatric and Adolescent Medicine, St. Annastift-Hospital Ludwigshafen am Rhein, Karolina-Burger-Straße 5, 67065, Ludwigshafen am Rhein, Germany.
Pediatric Neurology and Metabolic Medicine, Center for Rare Diseases, Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, Heidelberg, 69120, Germany.
Orphanet J Rare Dis. 2020 Oct 2;15(1):275. doi: 10.1186/s13023-020-01548-9.
Challenging behavior represents a core symptom in neuropathological mucopolysaccharidoses (MPS) and puts major strain on affected families. Although multimodal approaches including behavioral strategies to treatment could be valuable, there is lack of research to the effectiveness of specific measures. This explorative, cross-sectional study is aimed at the collection of parental experiences regarding effective day-to-day measures against challenging behavior in MPS and focuses on 4 major research questions: First: What is challenging behavior in MPS? Second: Which strategies are helpful in the day-to-day coping with challenging behavior? Third: How strong is parental acceptance of illness and the disorder's impact on family relationships? Fourth: What are beneficial personal and interfamilial strategies for generally coping with the disorder?
A semi structured questionnaire was designed de novo in cooperation with affected families. 37/268 questionnaires were returned (rate: 13.8%), of which 34 (MPS I: n = 8, MPS II: n = 8; MPS III: n = 18) could be included in data analysis in accordance with inclusion criteria. Assessment of challenging symptoms was based on perceived frequency, parent- and child stress. Exploration of possible coping strategies for challenging behavior and general illness-related strain included the evaluation of perceived effectiveness. Questionnaires were completed by patient's relatives and analyzed for strategies to cope with challenging behavior and the disorder's impact. STROBE criteria were respected.
MPS I was reported to show lower frequency and better perceived manageability of challenging behavior than MPS II and -III. Sleep disturbance, hyperactivity, agitation, aggression and orality seemed relevant symptoms regarding frequency and/or parent stress. Reported measures were manifold, worthwhile approaches against challenging behavior appeared to be aiming at distraction, relief and environmental changes. Medication and non-medication approaches were rated similarly effective. Social exchange, private space and networking with other affected families seemed highly important for personal and interfamilial well-being.
Multimodal mentoring for affected families could be based on the following equivalent pillars: (1) Medication therapy for challenging behavior including evaluation of cost and benefit (2) Guided implementation and re-evaluation of specific behavioral measures against challenging behavior. (3) Psychosocial support of MPS-families, including options for strengthening parental well-being and family functioning. Trial registration This study was registered at clinicaltrials.gov prior to study start (NCT-Number: NCT03161171, Date: 2017/05/19).
挑战性行为是神经病理黏多糖贮积症（MPS）的核心症状之一，给患者家庭带来了巨大压力。尽管包括行为策略在内的多模式方法可能具有价值，但针对特定措施的有效性研究还很缺乏。本探索性、横断面研究旨在收集父母对 MPS 中挑战性行为的日常有效应对措施的经验，并重点关注以下 4 个主要研究问题：第一：MPS 中的挑战性行为是什么？第二：哪些策略有助于日常应对挑战性行为？第三：父母对疾病的接受程度以及疾病对家庭关系的影响程度如何？第四：对于一般疾病应对，个人和家庭内部的有益策略有哪些？
与受影响的家庭合作，全新设计了半结构化问卷。共收回 37/268 份问卷（回收率：13.8%），其中 34 份（MPS I：n=8，MPS II：n=8；MPS III：n=18）符合纳入标准，可纳入数据分析。挑战症状的评估基于感知频率、父母和儿童的压力。探索应对挑战行为和一般疾病相关压力的可能策略包括评估感知的有效性。问卷由患者亲属填写，并分析应对挑战行为和疾病影响的策略。本研究符合 STROBE 标准。
与 MPS II 和 MPS III 相比，MPS I 报告的挑战行为频率较低，可管理性较好。睡眠障碍、多动、躁动、攻击和口腔欲似乎与频率和/或父母压力有关。报告的措施多种多样，针对挑战行为的有效措施似乎旨在分散注意力、缓解压力和改变环境。药物和非药物治疗方法的效果相似。社会交流、私人空间和与其他受影响家庭的网络联系对个人和家庭内部的幸福感非常重要。
针对受影响家庭的多模式指导可以基于以下同等支柱：（1）针对挑战行为的药物治疗，包括评估成本和效益；（2）针对挑战行为的具体行为措施的指导实施和重新评估；（3）对 MPS 家庭的心理社会支持，包括增强父母幸福感和家庭功能的选择。
本研究在研究开始前于 clinicaltrials.gov 进行了注册（NCT-Number：NCT-03161171，日期：2017 年 5 月 19 日）。
