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The Broader Autism Phenotype and Its Implications on the Etiology and Treatment of Autism Spectrum Disorders

机译:广泛的自闭症表型及其对自闭症谱系障碍的病因和治疗的意义

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The presence of autism-related traits has been well documented in undiagnosed family members of individuals with autism spectrum disorder (ASD). The most common finding is mild impairments in social and communication skills that are similar to those shown by individuals with autism, but exhibited to a lesser degree. Termed thebroader autism phenotype(BAP), these traits suggest a genetic liability for autism-related traits in families. Genetic influence in autism is strong, with identical twins showing high concordance for the diagnosis and related traits and approximately 20% of all ASD cases having an identified genetic mechanism. This paper highlights the studies conducted to date regarding the BAP and considers the implications of these findings for the etiology and treatment of ASD.
机译:自闭症相关特征的存在已在自闭症谱系障碍(ASD)的未诊断家庭成员中得到了充分证明。最常见的发现是社交和沟通能力的轻度障碍,与自闭症患者表现出的轻度障碍相似,但程度较小。这些特性被称为“更广泛的自闭症表型”(BAP),暗示了家庭中与自闭症相关的性状的遗传责任。自闭症的遗传影响很强,同卵双胞胎在诊断和相关特征方面显示出高度的一致性,在所有ASD病例中,约有20%具有确定的遗传机制。本文重点介绍了迄今为止有关BAP的研究,并考虑了这些发现对ASD的病因和治疗的意义。

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