Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.
Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.
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DOI：
10.3390/ijms18030618
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发表时间：
2017-03-12
影响因子：
5.6
通讯作者：
Tordjman S
中科院分区：
文献类型：
--
作者：
Robert C;Pasquier L;Cohen D;Fradin M;Canitano R;Damaj L;Odent S;Tordjman S
随着新技术的发展，流行病学、分子和临床遗传学方面的进展提高了对与自闭症谱系障碍 (ASD) 相关的遗传综合征的认识。本文的目的是展示与 ASD 相关的遗传性疾病的多样性（基于对单基因疾病、拷贝数变异和其他染色体疾病的广泛回顾），从而提出一种逐步评估的分层诊断策略，帮助全科医生/儿科医生和儿童精神科医生与遗传学家和神经儿科医生合作，以寻找与 ASD 相关的遗传性疾病。第一步是临床调查，涉及：（i）儿童精神病学和心理评估，从不同的观察来源确认自闭症诊断并评估自闭症严重程度； (ii) 神经儿科评估，检查神经系统症状和发育里程碑； (iii) 寻找畸形特征和畸形的遗传评估。第二步涉及实验室以及必要时的神经影像学和脑电图研究，这些研究以基于临床遗传和神经儿科检查的临床结果为导向。与 ASD 相关的遗传性疾病的鉴定对于诊断策略、早期发现或预防共病、具体治疗和随访以及遗传咨询具有实际意义。
Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD. The first step is a clinical investigation involving: (i) a child psychiatric and psychological evaluation confirming autism diagnosis from different observational sources and assessing autism severity; (ii) a neuropediatric evaluation examining neurological symptoms and developmental milestones; and (iii) a genetic evaluation searching for dysmorphic features and malformations. The second step involves laboratory and if necessary neuroimaging and EEG studies oriented by clinical results based on clinical genetic and neuropediatric examinations. The identification of genetic disorders associated with ASD has practical implications for diagnostic strategies, early detection or prevention of co-morbidity, specific treatment and follow up, and genetic counseling.