Autism is a neurodevelopmental disorder characterized by impairments in social skills, language, and behavior. It is now clear that autism is not a disease, but a syndrome characterized by phenotypic and genetic complexity. The etiology of autism is still poorly understood. Available evidence from a variety of sources strongly suggests that many genetic disorders are frequently associated with autism for their similar phenotypes. Based on this fact, this review begins by highlighting several principal genetic syndromes consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, Pader-Willi syndrome, Rett syndrome, Down syndrome and Turner syndrome). These genetic disorders include both chromosome disorders and single gene disorders. By comparing the similar phenotype, protein marker and candidate genes, we might make some breakthrough in the mechanism of autism and other genetic disorders.
目的分析身体活动对孤独症(ASD)儿童神经认知功能的影响,以期为ASD儿童的临床认知功能康复实践提供理论依据和具体指导。方法在中国知网、万方、Web of Science、EBSCO等数据库,以主题词检索身体活动对ASD儿童神经认知功能影响的相关文献,检索时间为建库至2024年3月。筛选后提取作者、国家、文章发表时间、研究对象、诊断标准、干预措施、测量工具以及研究结果等信息,同时采用物理治疗证据数据库(PEDro)量表对文章进行方法学质量评估,并进行系统评价。结果研究共纳入17篇文献,均为英文文献,大多数文献质量良好。研究设计包括随机对照试验10篇、准实验设计4篇和前后测设计3篇。身体活动对ASD儿童的康复效果主要表现在提升注意力、执行功能,以及改善脑结构和脑功能等方面。在体能类和技能类项目中,ASD儿童展现出不同的认知干预效果,尤其是篮球和乒乓球等技能类项目对认知功能的改善效果更为明显。结论身体活动是一项有效的锻炼方式,不仅有助于提高ASD儿童的注意力、执行功能等认知能力,还能改善大脑结构和大脑功能。
