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Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity

机译:遗传综合征中行为表型的描述:自闭症谱系障碍,影响和多动的特征

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摘要

We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4–51). ASD symptomatology was heightened in CdLS and FXS. High levels of impulsivity were seen in SMS, AS, CdCS, FXS and adults with CdLS. Negative affect was prominent in adults with CdLS, while positive affect was prominent in adults with AS and FXS. Heightened levels of overactivity and impulsivity were identified in FXS, AS and SMS while low levels were identified in PWS. These findings confirm and extend previously reported behavioral phenotypes.
机译:我们调查了自闭症谱系障碍(ASD)的症状,活动亢进和对7种遗传综合征的影响。 Angelman(AS; n = 104),Cri du Chat(CdCS; 58),Cornelia de Lange(CdLS; 101),Fragile X(FXS; 191),Prader-Willi(PWS; 189),Smith-Magenis(SMS; 42)和Lowe(LS; 56)综合征(年龄4–51)。在CdLS和FXS中,ASD症状更为严重。在SMS,AS,CdCS,FXS和患有CdLS的成年人中发现了很高的冲动性。在患有CdLS的成年人中,负面影响尤为突出,而在患有AS和FXS的成年人中,正面影响尤为突出。在FXS,AS和SMS中,发现过度活跃和冲动水平升高,而在PWS中则发现较低水平。这些发现证实并扩展了先前报道的行为表型。

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  • 来源
    《Journal of Autism and Developmental Disorders》 |2011年第8期|p.1019-1032|共14页
  • 作者单位

    Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK;

    Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK;

    Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK;

    Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK;

    Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

    Behavioral phenotype; Autism spectrum disorder; Hyperactivity; Impulsivity; Affect; Genetic syndromes;

    机译:行为表型;孤独症谱系障碍;多动症;冲动性;影响;遗传综合征;

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