The autism spectrum phenotype in ADNP syndrome.
The autism spectrum phenotype in ADNP syndrome.
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DOI：
10.1002/aur.1980
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发表时间：
2018-09
期刊：
影响因子：
--
通讯作者：
Bernier RA
中科院分区：
文献类型：
--
作者：
Arnett AB;Rhoads CL;Hoekzema K;Turner TN;Gerdts J;Wallace AS;Bedrosian-Sermone S;Eichler EE;Bernier RA
活动依赖性神经保护素同源异型盒（ADNP）基因的致病性破坏是与自闭症谱系障碍（ASD）相关的最常见的杂合基因突变之一。ADNP中断的个体具有一系列医学和精神病学特征，包括ASD，智力残疾，畸形特征和张力减退。然而，与ADNP相关的ASD症状的概况可能不同于患有另一种ASD相关的单基因破坏或没有已知遗传原因的ASD的个体。目前的研究在ADNP中断的代表性青年样本中检查了ASD表型。参与者（N = 116，年龄4-22岁）包括一个ADNP突变队列（n =11）和三个对照组，其中一个突变为CHD 8（n =11），另一个ASD相关基因突变（其他突变; n = 53）或ASD无已知遗传病因（特发性ASD; n = 41）。正如预期的那样，与CHD 8和特发性ASD组相比，ADNP中断的个体具有更高的智力残疾率，但不太严重的社会影响症状。此外，与CHD 8、其他突变和特发性ASD对照组相比，ADNP组的语言智力解释了更多的社交障碍差异。ADNP组的限制性和重复性行为的特点是高水平的刻板运动行为，而特发性ASD组表现出高水平的限制性兴趣。总之，这些结果强调了ADNP在认知功能中的作用，并表明ADNP综合征中的社会障碍与语言缺陷的严重程度一致。
Pathogenic disruptions to the Activity Dependent Neuroprotector Homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASD). Individuals with ADNP disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability, dysmorphic features and hypotonia. However, the profile of ASD symptoms associated with ADNP may differ from that of individuals with another ASD-associated single gene disruption or with ASD without a known genetic cause. The current study examined the ASD phenotype in a sample of representative youth with ADNP disruptions. Participants (N = 116, ages 4–22 years) included a cohort with ADNP mutations (n =11) and three comparison groups with either a mutation to CHD8 (n =11), a mutation to another ASD-associated gene (Other Mutation; n = 53), or ASD with no known genetic etiology (Idiopathic ASD; n = 41). As expected, individuals with ADNP disruptions had higher rates of intellectual disability, but less severe social affect symptoms compared to the CHD8 and Idiopathic ASD groups. Additionally, verbal intelligence explained more variance in social impairment in the ADNP group compared to CHD8, Other Mutation and Idiopathic ASD comparison groups. Restricted and repetitive behaviors in the ADNP group were characterized by high levels of stereotyped motor behaviors while the Idiopathic ASD group showed high levels of restricted interests. Taken together, these results underscore the role of ADNP in cognitive functioning and suggest social impairments in ADNP syndrome are consistent with severity of verbal deficits.
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