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母婴互动:22q11.2缺失综合征和威廉姆斯综合征独特社会表型的窗口

Mother-Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome.

作者信息

Weisman Omri, Feldman Ruth, Burg-Malki Merav, Keren Miri, Geva Ronny, Diesendruck Gil, Gothelf Doron

机构信息

Yale Child Study Center, School of Medicine, New Haven, CT, 06519, USA,

出版信息

J Autism Dev Disord. 2015 Aug;45(8):2567-77. doi: 10.1007/s10803-015-2425-6.

DOI:10.1007/s10803-015-2425-6
PMID:25791124
Abstract

Mother-child interactions in 22q11.2 Deletion syndrome (22q11.2DS) and Williams syndrome (WS) were coded for maternal sensitivity/intrusiveness, child's expression of affect, levels of engagement, and dyadic reciprocity. WS children were found to express more positive emotions towards their mothers compared to 22q11.2DS children and those with developmental delay in a conflict interaction. During the same interaction, dyads of 22q11.2DS children were characterized by higher levels of maternal intrusiveness, lower levels of child's engagement and reduced reciprocity compared to dyads of typically developing children. Finally, 22q11.2DS children with the COMT Met allele showed less adaptive behaviors than children with the Val allele. Dyadic behaviors partially coincided with the distinct social phenotypes in these syndromes and are potential behavioral markers of psychopathological trajectory.

摘要

对22q11.2缺失综合征(22q11.2DS)和威廉姆斯综合征(WS)中的母婴互动进行编码,内容包括母亲的敏感性/侵扰性、孩子的情感表达、参与程度和二元互动性。研究发现,在冲突互动中,与22q11.2DS儿童以及发育迟缓儿童相比,WS儿童对母亲表达出更多积极情绪。在同一互动过程中,与发育正常儿童的二元组相比,22q11.2DS儿童的二元组具有母亲侵扰性更高、孩子参与程度更低以及互动性降低的特点。最后,携带儿茶酚-O-甲基转移酶(COMT)蛋氨酸等位基因的22q11.2DS儿童比携带缬氨酸等位基因的儿童表现出更少的适应性行为。二元行为与这些综合征中不同的社会表型部分相符,并且是心理病理轨迹的潜在行为标志物。

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