Instituto de Investigación Sanitaria Gregorio Marañón, Departamento de Psiquiatría del Niño y del Adolescente, Hospital General Universitario Gregorio Marañón, Centro de Investigación Biomédica en Red Salud Mental (CIBERSAM), Instituto de Salud Carlos III, Universidad Complutense de Madrid, Madrid, Spain.
Autism Team Northern-Netherlands, Jonx, Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands; University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.
Eur J Med Genet. 2023 Jun;66(6):104750. doi: 10.1016/j.ejmg.2023.104750. Epub 2023 Mar 23.
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.
早发性睡眠问题和障碍在患有普氏综合征（Phelan-McDermid Syndrome，PMS）的个体中非常常见，发生率高达 90%。这些睡眠问题和障碍不容忽视。它们不仅对受影响个体的健康、行为、功能和学习机会产生重大影响，还会对父母和照顾者的幸福感和适应能力产生不利影响，最终影响整个社会系统的身心健康。在这篇综述中，我们旨在了解 PMS 中睡眠问题的类型和频率，作为管理和治疗建议的基础，并为临床医生和从业者提供一般指导。我们进行了深入的文献检索，总结了发现，并与其他联盟成员（PMS 专家和利益相关者）进行了一系列共识会议，以就指导方针和建议达成一致。同时，创建了一项全球性调查并分发给父母，以纳入他们的观点。我们的文献检索仅发现了四篇专门关注 PMS 中睡眠问题的文章，尽管其他一些文章提到了患病率和相关因素。特定于国家的患病率在 24%至 46%之间波动，而我们的家长调查报告为 59%。报告的主要问题包括入睡困难和多次夜间醒来，睡眠不安，夜间遗尿和磨牙也很常见。只有少数人接受过专家监测的睡眠研究。随着年龄的增长，上床抵抗通常会降低，但入睡延迟、睡眠焦虑、睡眠障碍、入睡和保持睡眠困难会持续一生，成年期总睡眠时间会增加。然而，这种改善也伴随着睡眠障碍的大量增加。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，没有研究专门针对 PMS 中睡眠问题的根本原因，但已提出共病精神健康状况、躯体原因或（多）药物治疗作为睡眠障碍的触发因素。目前，尚无针对 PMS 睡眠问题的特定治疗方法，目前的建议主要基于智力残疾和/或神经发育障碍患者。
