更新了关于费兰-麦克德米德综合征管理的共识指南
Siddharth Srivastava1,2, Mustafa Sahin1,2, Joseph D Buxbaum3,4,5,6
1Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
American journal of medical genetics. Part A
|July 1, 2023
概括
现在可获得更新的费兰-麦克德米德综合征 (PMS) 管理指南,反映了十年的新研究. 这些指导方针为患有这种SHANK3相关遗传疾病的个体提供了改进的评估和监测策略.
科学领域:
- 遗传学和罕见疾病.
- 神经发育障碍 神经发育障碍
- 临床实践指南 临床实践指南
背景情况:
- 费兰-麦克德米德综合征 (PMS) 是一种遗传性疾病,由于SHANK3的哈普洛缺陷,呈现出各种神经发育和系统性问题.
- 对于PMS的先前实践参数是在2014年建立的,由于最近了解这种情况的重大进展,需要进行更新.
研究的目的:
- 为菲兰-麦克德米德综合征提供最新的临床管理指南.
- 将从纵向研究和基因型-表型调查中获得的最新知识纳入其中.
- 为临床医生,研究人员和患者社区提供指导.
主要方法:
- 成立了一个由临床专家和家长代表组成的多学科工作组.
- 小组专注于特定的医学专业,包括遗传学,神经学和心脏病学.
- 通过定期会议,代反,专家共识和协调制定了指导方针.
主要成果:
- 已经制定了评估和监测PMS患者的最新指南,利用十年积累的知识.
- 有证据支持管理伴随性神经精神疾病,主要来自护理人员报告和专家经验.
- 干预措施在很大程度上遵循发展障碍的一般指导方针,因为PMS特定证据有限.
结论:
- 这些更新的共识指南代表了费兰-麦克德米德综合征治疗的重大进展.
- 这些指导方针旨在改善患有PMS的个体的评估,监测和管理.
- 突出显示了未来的研究,以便在随后的更新中提供更精细和更具体的建议.
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