Chilosi Anna Maria, Brovedani Paola, Cipriani Paola, Casalini Claudia
IRCCS Stella Maris Foundation, Department of Developmental Neuroscience, Pisa, Italy.
J Neurosci Res. 2023 May;101(5):654-667. doi: 10.1002/jnr.24976. Epub 2021 Nov 25.
Developmental language disorder (DLD) is a neurodevelopmental condition, occurring in about 3% to 7% of preschoolers, that can impair communication and negatively impact educational and social attainments, in spite of adequate neurological, cognitive, emotional, social development, and educational opportunities for language learning. Significant risk factors for DLD are male sex, familial history of early language delay, low parental education, and various perinatal factors. A strong sex effect with a higher prevalence of language delay and DLD in males than in females has been consistently reported. Neurobiological and environmental risk factors, interacting with each other, are probably responsible for the phenotypic expression of DLD. The aim of this brief review is to further the knowledge of the role of sex in early language delay and DLD by analyzing the evidence from four significant sources: epidemiological studies, studies on twins, family aggregation studies, and studies on sex chromosome trisomies. Data pertaining only to sex differences (biological and physiological characteristics of females and males) will be analyzed. Studies on family aggregations and twins confirm the role of genetic factors and of sex in determining language abilities and disabilities, but genes alone do not determine outcomes. Sex chromosome trisomies represent a unique example of the relationship between a genetic alteration and a language disorder. Clarification of how sex acts in determining DLD could provide new information on early risk factors and, thus, contribute to improve diagnosis and clinical management.
发育性语言障碍(DLD)是一种神经发育状况,约3%至7%的学龄前儿童会出现这种情况,它会损害沟通能力,并对教育和社会成就产生负面影响,尽管在神经、认知、情感、社交发展以及语言学习的教育机会方面均正常。DLD的重要风险因素包括男性、早期语言发育迟缓的家族史、父母教育程度低以及各种围产期因素。一直有报告称存在明显的性别效应,男性语言发育迟缓和DLD的患病率高于女性。神经生物学和环境风险因素相互作用,可能是导致DLD表型表达的原因。这篇简短综述的目的是通过分析来自四个重要来源的证据,即流行病学研究、双胞胎研究、家族聚集性研究以及性染色体三体研究,来加深对性别在早期语言发育迟缓和DLD中作用的认识。将仅分析与性别差异(男性和女性的生物学和生理特征)相关的数据。家族聚集性研究和双胞胎研究证实了遗传因素和性别在决定语言能力和语言障碍方面的作用,但仅基因并不能决定结果。性染色体三体是遗传改变与语言障碍之间关系的一个独特例子。阐明性别在决定DLD过程中的作用方式,可以提供有关早期风险因素的新信息,从而有助于改善诊断和临床管理。