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首页> 外文期刊>American journal on intellectual and developmental disabilities: AJIDD >Delineating the profile of autism spectrum disorder characteristics in Cornelia de Lange and fragile x syndromes
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Delineating the profile of autism spectrum disorder characteristics in Cornelia de Lange and fragile x syndromes

机译：描绘Cornelia de Lange和脆弱x综合征的自闭症谱系障碍特征

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An atypical presentation of autism spectrum disorder is noted in Cornelia de Lange and Fragile X syndromes, but there are few detailed empirical descriptions. Participants in this study were individuals with Cornelia de Lange syndrome (n = 130, M age = 17.19), Fragile X syndrome (n = 182, M age = 16.94), and autism spectrum disorder (n = 142, M age = 15.19), who were comparable on chronological age. Using the Social Communication Questionnaire, the proportion meeting cutoff for autism spectrum disorder and autism was 78.6%, and 45.6%, respectively, in Cornelia de Lange syndrome and 83.6% and 48.6% in Fragile X syndrome. Domain and item analyses indicate differing, atypical autism spectrum disorder profiles in Fragile X and Cornelia de Lange syndromes. A limited association between adaptive behavior and autism spectrum disorder was identified in all groups. The findings have implications for intervention in genetic syndromes and conceptualization of autism spectrum disorder in the wider population.
机译：在Cornelia de Lange和Fragile X综合征中发现了自闭症谱系障碍的非典型表现，但很少有详细的经验描述。这项研究的参与者为患有Cornelia de Lange综合征（n = 130，M年龄= 17.19），易碎X综合征（n = 182，M年龄= 16.94）和自闭症谱系障碍（n = 142，M年龄= 15.19）的个体。 ，按时间顺序可比。使用社交沟通调查表，Cornelia de Lange综合征的自闭症谱系障碍和自闭症的截止比例分别为78.6％和45.6％，Fragile X综合征的分别为83.6％和48.6％。域和项目分析表明，在脆弱X和Cornelia de Lange综合征中存在不同的非典型自闭症谱系谱。在所有组中，适应性行为和自闭症谱系障碍之间的关联有限。这些发现对更广泛人群中遗传综合征的干预和自闭症谱系障碍的概念化具有重要意义。

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