首页> 外文期刊>American journal of medical genetics, Part C. Seminars in medical genetics >Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow-up
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Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow-up

机译:Cornelia de Lange,Fragile X和Cri du Chat综合征自闭症谱系现象的与年龄相关的变化:2.5年随访的结果

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Little is known about the way in which the characteristics of autism spectrum disorder (ASD) develop and manifest across the age span in individuals with genetic syndromes. In this study we present findings from a two and a half year follow-up of the characteristics associated with ASD in three syndromes: Cornelia de Lange (CdLS), Fragile X (FXS), and Cri du Chat (CdCS). Parents and carers of 251 individuals (CdLS=67, CdCS=42, and FXS=142) completed the Social Communication Questionnaire (SCQ) at Time 1 (T1) and again two and a half years later (T2). The FXS and CdLS groups were more likely to meet the cut-offs for both autism and ASD and show greater severity of ASD related behaviors, at both T1 and T2, compared to the CdCS group. Older individuals (>15yrs) with CdLS were more likely to meet the cut off for ASD than younger individuals (15yrs) with the syndrome and more likely to show greater severity of social impairments. In FXS repetitive behaviors were found to become less prominent with age and in CdCS social impairments were reported to be more severe with age. There were no significant changes between T1 and T2 in the severity of ASD characteristics in the CdCS and CdLS groups. The FXS group showed significantly fewer repetitive behaviors and less severe impairments in social interaction over this time frame. The findings suggest that while there may be similarities in overall severity and presentation of ASD characteristics in CdLS and FXS, these characteristics have divergent patterns of development within these groups. (c) 2015 Wiley Periodicals, Inc.
机译:关于自闭症谱系障碍(ASD)的特征在遗传综合症个体中随着年龄增长而发展和表现的方式知之甚少。在这项研究中,我们提供了两年半后与三种症状的ASD相关特征的随访结果:Cornelia de Lange(CdLS),Fragile X(FXS)和Cri du Chat(CdCS)。 251位个人(CdLS = 67,CdCS = 42和FXS = 142)的父母和照顾者在时间1(T1)以及两年半后的时间(T2)完成了社会沟通问卷(SCQ)。与CdCS组相比,在T1和T2时,FXS和CdLS组更有可能达到自闭症和ASD的临界值,并显示出与ASD相关行为的严重性。患有CdLS的年龄较大的个体(> 15岁)比患有该综合征的年龄较小的个体(15岁)更容易达到ASD的门槛,并且更有可能表现出更大的社交障碍。在FXS中发现重复行为随着年龄的增长而变得不那么明显,而在CdCS中,据报道社交障碍随着年龄的增长变得更加严重。 CdCS和CdLS组的ASD特征严重性在T1和T2之间没有显着变化。在这个时间范围内,FXS组的重复行为显着减少,社交互动的严重受损也减少了。研究结果表明,尽管在CdLS和FXS的总体严重性和ASD特征表现上可能相似,但这些特征在这些人群中具有不同的发展模式。 (c)2015年威利期刊有限公司

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