自闭症谱系障碍的评估和治疗:遗传学和精神病学的焦点。

Autism Research and Treatment Pub Date : 2012-01-01 Epub Date: 2012-05-31 DOI:10.1155/2012/242537
Merlin G Butler, Erin L Youngs, Jennifer L Roberts, Jessica A Hellings
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引用次数: 21

摘要

自闭症谱系障碍(asd)是一种神经行为障碍,其特征是在三个行为领域出现异常,包括社会互动、沟通障碍和重复刻板行为。自闭症谱系障碍影响了大约1%的儿童,并且随着这些疾病背后的重要遗传机制的增加,自闭症谱系障碍的发病率正在上升。我们回顾了目前对遗传和代谢因素在ASD中的作用的理解,并利用新的基因技术。50%的人被诊断为染色体异常、小DNA缺失/重复、单基因疾病或代谢紊乱。遗传评估与精神治疗以及治疗ASD相关挑战性行为或合并症的药物选择方法一起讨论。我们强调基于目标症状群和ASD个体的优先治疗的重要性,因为治疗可能因患者而异。
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Assessment and treatment in autism spectrum disorders: a focus on genetics and psychiatry.

Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains including social interaction, impaired communication, and repetitive stereotypic behaviors. ASD affects approximately 1% of children and is on the rise with significant genetic mechanisms underlying these disorders. We review the current understanding of the role of genetic and metabolic factors contributing to ASD with the use of new genetic technology. Fifty percent is diagnosed with chromosomal abnormalities, small DNA deletions/duplications, single-gene conditions, or metabolic disturbances. Genetic evaluation is discussed along with psychiatric treatment and approaches for selection of medication to treat associated challenging behaviors or comorbidities seen in ASD. We emphasize the importance of prioritizing treatment based on target symptom clusters and in what order for individuals with ASD, as the treatment may vary from patient to patient.

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21 weeks
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