Benvenuto A, Marciano S, Capuano I, Curatolo P
Department of Neuroscience, Tor Vergata University, Rome, Italy.
Minerva Pediatr. 2013 Feb;65(1):19-36.
Autism spectrum disorders (ASDs) constitute a class of severe neurodevelopmental conditions caused by atypical brain development beginning during early prenatal or postnatal life. Autistic features begin to be evident in children between 12 and 18 months of age and are considered to be life-long conditions, with core symptoms being permanent across the lifespan. Etiology is multifactorial, involving a strong genetic underpinning. Studies of genetic and environmental epigenetic factors are beginning to provide some clues to clarify the complexities of autism pathogenesis, associated with altered functional and structural connectivity patterns in several brain regions that occur early in life. Genetic syndromes, defined chromosomal abnormalities, and metabolic diseases account for less than 20% of autistic patients and etiologic causes of ASDs remain elusive in more than 80% of cases. Currently, no treatments have been proven to completely reverse the core symptoms but progress in early detection of autistic symptoms in young children has promoted earlier interventions, which should begin soon after the diagnosis is made and be individualized and intensive, for reaching more positive outcomes in terms of cognitive improvement and decrease of symptoms severity. The management of individuals with ASDs requires a multimodal approach of behavioral, medical and pharmacological treatments. Therefore, it is highly important for pediatricians to recognize early signs of ASDs and to know multiple genetic and non genetic disorders that underlie autistic phenotype.
自闭症谱系障碍(ASD)是一类严重的神经发育疾病,由产前或产后早期开始的非典型大脑发育引起。自闭症特征在12至18个月大的儿童中开始显现,被认为是终身疾病,核心症状在整个生命周期中持续存在。病因是多因素的,涉及强大的遗传基础。对遗传和环境表观遗传因素的研究开始提供一些线索,以阐明自闭症发病机制的复杂性,这与生命早期几个脑区功能和结构连接模式的改变有关。遗传综合征、明确的染色体异常和代谢疾病占自闭症患者的比例不到20%,超过80%的自闭症病因仍不明确。目前,尚无治疗方法被证明能完全逆转核心症状,但幼儿自闭症症状早期检测方面的进展促进了早期干预,干预应在诊断后尽快开始,且应个性化和强化,以在认知改善和症状严重程度降低方面取得更积极的结果。对自闭症谱系障碍患者的管理需要行为、医学和药物治疗的多模式方法。因此,儿科医生认识自闭症谱系障碍的早期迹象并了解构成自闭症表型基础的多种遗传和非遗传疾病非常重要。