Phelan-McDermid综合征的神经精神表现及其诊治研究进展

Neuropsychiatric manifestations and advances in diagnosis and treatments of Phelan-McDermid syndrome

Phelan-McDermid综合征是由SHANK3基因单倍体功能不足引起的临床表现多样的罕见病,主要症状包括肌张力低下、智力障碍、语言发育迟缓、孤独症谱系障碍表现等,目前尚无有效的治疗方法。本文综述了该病可能的发病机制、药物研究进展,并重点描述了神经精神失代偿的表现及治疗措施。

Phelan-McDermid syndrome is a rare genetic condition caused by haploinsufficiency of the SHANK3.This syndrome manifests with diverse clinical defects including hypotonia,intellectual disability,speech delays,behavior problems,and autism spectrum features.There is currently no effective treatment.This article reviews the potential pathogenesis,research on pharmacotherapy,and describes the neuropsychiatric decompensating performance and therapeutic interventions.