Autism spectrum phenotype in males and females with fragile x full mutation and premutation
Autism spectrum phenotype in males and females with fragile x full mutation and premutation
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DOI：
10.1007/s10803-006-0205-z
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发表时间：
2007-04-01
影响因子：
3.9
通讯作者：
Loesch, Danuta Z.
中科院分区：
文献类型：
--
作者：
Clifford, Sally;Dissanayake, Cheryl;Loesch, Danuta Z.
使用自闭症诊断观察量表-通用（ADOS-G）和自闭症诊断访谈（ADI-R）评估完全突变和突变前脆性X综合征（FXS）患者的自闭症行为表型。参与者年龄在5-80岁之间，包括33名男性和31名女性全突变，7名男性和43名女性前突变，以及38名非脆性X亲属（29名男性，9名女性）。在完全突变组中，共有67%的男性和23%的女性在至少一项诊断测试中符合自闭症障碍（AD）或自闭症谱系障碍（ASD）标准。在突变前组中，14%的男性和5%的女性符合ASD的ADOS-G标准。自闭症的表现存在于男性和女性的完全突变和前突变提供支持的频谱视图。
The behavioural phenotype of autism was assessed in individuals with full mutation and premutation fragile X syndrome (FXS) using the Autism Diagnostic Observation Scale-Generic (ADOS-G) and the Autism Diagnostic Interview (ADI-R). The participants, aged 5-80 years, comprised 33 males and 31 females with full mutation, 7 males and 43 females with premutation, and 38 non-fragile X relatives (29 males, 9 females). In the full mutation group, a total of 67% males and 23% females met either the Autism Disorder (AD) or the Autism Spectrum Disorder (ASD) criteria on at least one of the diagnostic tests. In the premutation group, 14% males and 5% females met the ADOS-G criteria for ASD. The presence of autism manifestations in males and females with full mutation and premutation provide support for a spectrum view.