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自闭症谱系障碍的评估与治疗:聚焦遗传学与精神病学

Assessment and treatment in autism spectrum disorders: a focus on genetics and psychiatry.

作者信息

Butler Merlin G, Youngs Erin L, Roberts Jennifer L, Hellings Jessica A

机构信息

Department of Psychiatry and Behavioral Sciences, Kansas University Medical Center, 3901 Rainbow Blvd., MS4015, Kansas City, KS 66160, USA.

出版信息

Autism Res Treat. 2012;2012:242537. doi: 10.1155/2012/242537. Epub 2012 May 31.

Abstract

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.

摘要

自闭症谱系障碍(ASD)是一种神经行为障碍,其特征在于三个行为领域存在异常,包括社交互动、沟通障碍以及重复刻板行为。ASD影响约1%的儿童,且发病率呈上升趋势,这些疾病存在重要的遗传机制。我们利用新的基因技术回顾了目前对导致ASD的遗传和代谢因素作用的理解。50%的患者被诊断出患有染色体异常、小DNA缺失/重复、单基因疾病或代谢紊乱。文中讨论了基因评估以及针对ASD中出现的相关挑战性行为或共病的精神治疗和药物选择方法。我们强调,对于ASD患者,根据目标症状群并按照一定顺序优先进行治疗非常重要,因为不同患者的治疗方法可能有所不同。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7f19/3420490/26a9c9a2fdfb/AURT2012-242537.001.jpg

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