Phelan-McDermid综合征(PMS)是由SHANK3单倍体功能不全引起的遗传性疾病,其特征是广泛的神经发育和全身表现。2014年发布了用于评估和监测患有PMS的个体的第一个实践参数;最近,基于来自纵向表型研究和大规模基因型-表型调查的数据,关于PMS的知识显著增长.这些更新的临床管理指南的目的是:(1)反映PMS的最新知识和(2)为临床医生提供指导,研究人员,和普通社区。成立了一个由PMS临床专家和父母社区代表组成的工作组。专家根据他们的专业领域加入分组,包括遗传学,神经学,神经发育,胃肠病学,初级保健,理疗,肾脏病学,内分泌学,心脏病学,妇科,和牙科。工作组成员在2021年至2022年之间定期召开会议,并根据迭代反馈和讨论制定了针对特定专业的指南。然后,工作组领导人在各自的专业小组内达成共识,并协调了准则。在过去十年中获得的知识允许改进指南来评估和监测患有PMS的个人。由于PMS特有的证据有限,干预大多遵循治疗发育障碍个体的一般指南。已经积累了大量证据来指导PMS合并症神经精神疾病的管理,尽管主要来自护理人员报告和临床专家的经验。这些关于PMS管理的最新共识指南代表了该领域的进步,并将改善社区护理。还强调了未来研究的几个领域,随着新知识的积累,这些领域将有助于后续的更新,并提出更完善和具体的建议。
Phelan-McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. The first practice parameters for assessment and monitoring in individuals with PMS were published in 2014; recently, knowledge about PMS has grown significantly based on data from longitudinal phenotyping studies and large-scale genotype-phenotype investigations. The objective of these updated clinical management
guidelines was to: (1) reflect the latest in knowledge in PMS and (2) provide guidance for clinicians, researchers, and the general community. A taskforce was established with clinical experts in PMS and representatives from the parent community. Experts joined subgroups based on their areas of specialty, including genetics, neurology, neurodevelopment, gastroenterology, primary care, physiatry, nephrology, endocrinology, cardiology, gynecology, and dentistry. Taskforce members convened regularly between 2021 and 2022 and produced specialty-specific
guidelines based on iterative feedback and discussion. Taskforce leaders then established
consensus within their respective specialty group and harmonized the
guidelines. The knowledge gained over the past decade allows for improved guidelines to assess and monitor individuals with PMS. Since there is limited evidence specific to PMS, intervention mostly follows general guidelines for treating individuals with developmental disorders. Significant evidence has been amassed to guide the management of comorbid neuropsychiatric conditions in PMS, albeit mainly from caregiver report and the experience of clinical experts. These updated
consensus guidelines on the management of PMS represent an advance for the field and will improve care in the community. Several areas for future research are also highlighted and will contribute to subsequent updates with more refined and specific recommendations as new knowledge accumulates.