Advances in the genetics and mechanisms of autism spectrum disorder with macrocephaly

VernacularTitle:孤独症谱系障碍伴大头畸形的遗传学及机制研究进展
Author: Yuanyuan GAO ¹ ; Min ZHU ; Xiaoke ZHAO ; Dandan WU
Author Information

1. 南京医科大学附属儿童医院康复医学科，南京　210008
Publication Type:Journal Article
Keywords: Autism spectrum disorder; Macrocephaly; Genetics; Endophenotype
From: Chinese Journal of Applied Clinical Pediatrics 2025;40(11):868-872
CountryChina
Language:Chinese
Abstract: Head circumference is the most direct and easily recognized clinical indication of brain development.Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with significant clinical and genetic heterogeneity.Genetic factors play a major role in its pathogenesis.The study of ASD with macrocephaly facilitates the etiologic discovery and mechanistic elaboration of the disease with marked heterogeneity.In this paper, the genetics and mechanism of macrocephaly in ASD were reviewed in order to provide a theoretical basis for early identification and diagnosis of ASD.