Phelan-McDermid综合征是一种罕见的遗传病，由包含22q13.3区域的缺失或SHANK3基因的致病变体引起。临床表现是可变的，但主要特征包括全球发育迟缓/智力残疾(ID)，明显的言语障碍或延误，以及其他特征，如张力减退和躯体或精神合并症。本出版物描述了心理健康，父母/照顾者告知的PMS患者一生中的发展和行为主题，专家,和其他参与PMS护理的关键专业人员。我们根据有关PMS心理健康和行为的现有文献提出了一些建议。此外,本文旨在提高我们对在评估心理健康和行为问题时考虑PMS个体发育水平重要性的认识.了解发育水平和实际年龄之间的差异如何影响有关行为，可以深入了解这些行为的含义，并为患有PMS的个人提供护理，使临床医生能够解决未满足的（心理健康）护理需求并改善生活质量。
Phelan-McDermid syndrome is a rare genetic condition caused by a deletion encompassing the 22q13.3 region or a pathogenic variant of the gene SHANK3. The clinical presentation is variable, but main characteristics include global developmental delay/intellectual disability (ID), marked speech impairment or delay, along with other features like hypotonia and somatic or psychiatric comorbidities. This publication delineates mental health, developmental and behavioural themes across the lifetime of individuals with PMS as informed by parents/caregivers, experts, and other key professionals involved in PMS care. We put forward several recommendations based on the available literature concerning mental health and behaviour in PMS. Additionally, this article aims to improve our awareness of the importance of considering developmental level of the individual with PMS when assessing mental health and behavioural issues. Understanding how the discrepancy between developmental level and chronological age may impact concerning behaviours offers insight into the meaning of those behaviours and informs care for individuals with PMS, enabling clinicians to address unmet (mental health) care needs and improve quality of life.
