Abstract：
Early onset sleep problems and disorders are very common in individuals with Phelan-McDermid Syndrome (PMS) with rates of up to 90%. These sleep problems and disorders cannot be taken lightly. Not only do they have a major impact on the health, behaviour, functioning and learning opportunities of affected individuals, they can also have detrimental effects on the well-being and resilience of parents and caregivers, ultimately affecting the physical health, mental health and well-being of the whole social system. In this review we aim to understand the types and frequencies of sleeping problems in PMS as the basis for recommendations on their management and treatment and to provide general guidelines for clinicians and practitioners. We conducted an in-depth literature search, summarised findings, and participated in a series of consensus meetings with other consortium members - experts on PMS and stakeholders - to agree on guidelines and recommendations. In parallel, a world-wide survey was created and distributed amongst parents to include their perspective. Our literature search found only four articles specifically focused on sleeping problems in PMS, although some other articles mentioned prevalence and associated factors. Country-specific prevalence rates ranged between 24% and 46%, whereas our parental survey reported 59%. The main problems reported involved difficulty falling asleep and numerous night awakenings, with being restless in sleep, night-time incontinence, and tooth grinding also commonly reported. Only a small number of individuals had undergone a sleep study monitored by a specialist. Bedtime resistance normally decreases with age, but sleep-onset delay, sleep anxiety, parasomnias, problems falling and remaining asleep remain throughout lifespan, with total sleep time improving during adulthood. However, this improvement was also accompanied by a substantial increase in parasomnias. Ultimately, an increase in sleep disorders in children correlates with increased sleep disorders and daytime sleepiness in parents/caregivers. No study to date has focused on the underlying causes of sleeping problems in PMS, but comorbid mental health conditions, somatic causes, or (poly)pharmacy have been proposed as triggers for sleeping disturbances. Currently there is no PMS-specific treatment for sleeping problems, and current recommendations are mostly based on individuals with intellectual disability and/or neurodevelopmental conditions.
摘要：
早发性睡眠问题和障碍在Phelan-McDermid综合征（PMS）患者中非常常见，发生率高达90％。这些睡眠问题和障碍不能掉以轻心。它们不仅对健康有重大影响，行为,受影响个人的功能和学习机会，它们也会对父母和照顾者的福祉和韧性产生不利影响，最终影响身体健康，整个社会系统的心理健康和福祉。在这篇综述中，我们旨在了解PMS中睡眠问题的类型和频率，作为对其管理和治疗建议的基础，并为临床医生和从业人员提供一般指南。我们进行了深入的文献检索,总结发现，并参加了与其他财团成员-PMS专家和利益相关者-就准则和建议达成共识的一系列共识会议。并行,创建了一项全球调查，并分发给父母，以包括他们的观点。我们的文献搜索发现只有三篇文章专门关注PMS中的睡眠问题，尽管其他一些文章提到了患病率和相关因素。特定国家的患病率介于24％和46％之间，而我们的父母调查报告为59%。报告的主要问题涉及入睡困难和多次夜间醒来，在睡眠中不安，夜间尿失禁，和牙齿研磨也经常报道。只有少数人接受了专家监测的睡眠研究。就寝时间阻力通常随着年龄的增长而降低，但是睡眠延迟，睡眠焦虑,parasomnias,在整个生命周期中，跌倒和保持睡眠的问题仍然存在，与成年期间的总睡眠时间改善。然而,这种改善还伴随着失眠症的大量增加.最终,儿童睡眠障碍的增加与父母/照顾者睡眠障碍和白天嗜睡的增加相关.迄今为止，还没有一项研究集中在PMS睡眠问题的根本原因上，但是精神健康状况并存，躯体原因，或（多）药房已被提议作为睡眠障碍的触发因素。目前没有针对睡眠问题的PMS特定治疗方法，目前的建议主要基于智力障碍和/或神经发育状况的个体。
