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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,情感和多动的特征

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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)综合症(年龄范围4-51)。在CdLS和FXS中,ASD症状更为严重。在SMS,AS,CdCS,FXS和患有CdLS的成年人中发现了较高的冲动性。在CdLS的成年人中,负面影响最为显着,而在AS和FXS的成年人中,正面影响尤为明显。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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