Emma Center for Personalized Medicine, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands; Advisium, 's Heeren Loo, Amersfoort, the Netherlands.
VSOP - National Patient Alliance for Rare and Genetic Diseases, Soest, the Netherlands.
Eur J Med Genet. 2023 Jul;66(7):104747. doi: 10.1016/j.ejmg.2023.104747. Epub 2023 Mar 30.
The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS. We indicate that care should consider all life domains, which can be done within the framework of the International Classification of Functioning, Disability and Health (ICF). This framework assesses disability and functioning as the outcome of the individual's interactions with other factors. The different roles within care, such as performed by a centre of expertise, by regional health care providers and by a coordinating physician are addressed. A surveillance scheme and emergency card is provided and disciplines participating in a multidisciplinary team for PMS are described. Additionally, recommendations are provided for transition from paediatric to adult care. This care proposition may also be useful for individuals with other rare genetic neurodevelopmental disorders.
佩兰-麦克德米德综合征（PMS）的表现复杂，需要在所有生命阶段由专家和多学科团队提供专业护理。在本文中，我们提出了关于 PMS 患者护理组织的共识建议。我们指出，护理应考虑所有生命领域，可以在《国际功能、残疾和健康分类》（ICF）框架内进行。该框架将残疾和功能评估为个体与其他因素相互作用的结果。本文还涉及了不同的护理角色，如专业中心、区域医疗保健提供者和协调医生的角色。本文提供了监测方案和应急卡，并描述了参与 PMS 多学科团队的学科。此外，还提供了从儿科到成人护理的过渡建议。该护理方案对于其他罕见的遗传性神经发育障碍患者也可能有用。
