7q11.23 重复综合征的行为表型包括对立行为和攻击行为的风险。
The Behavioral Phenotype of 7q11.23 Duplication Syndrome Includes Risk for Oppositional Behavior and Aggression.
机构信息
Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, WI.
Department of Pediatrics, Division of Clinical Behavioral Neuroscience, University of Minnesota, Minneapolis, MN.
出版信息
J Dev Behav Pediatr. 2022 Aug 1;43(6):e390-e398. doi: 10.1097/DBP.0000000000001068. Epub 2022 May 17.
OBJECTIVE
7q11.23 duplication syndrome (Dup7) is a genetic disorder with a variable phenotype associated with cognitive and behavioral characteristics including a high incidence of expressive language difficulties, social anxiety, and oppositional or disruptive behavior. Correlates of aggression and oppositionality were examined.
METHOD
Participants were 63 children with genetically confirmed Dup7 between the ages of 4 and 17 years. A multimethod, multi-informant approach was used to assess aggression and oppositional behavior, and the contributions of cognitive functioning, expressive language, autism spectrum, social anxiety, and hyperactivity/impulsivity (H/I) symptomatology were considered.
RESULTS
Elevated levels of aggression and oppositional behavior were found. Cognitive functioning, expressive language, and autism spectrum disorder symptomatology were not significantly related to parent ratings of aggression, although young children who had language and nonverbal cognitive delays were most likely to demonstrate examiner-observed aggression. Social anxiety and H/I symptomatology were related to defiant/aggressive and oppositional behavior.
CONCLUSION
Genes in the 7q11.23 region duplicated in Dup7, in transaction with the environment, may contribute to aggressive and oppositional behavior.
目的
7q11.23 重复综合征（Dup7）是一种遗传疾病，其表型具有可变性，与认知和行为特征有关，包括表达性语言困难、社交焦虑、对立或破坏性行为的高发率。检查了与攻击和对立相关的因素。
方法
参与者是年龄在 4 至 17 岁之间的 63 名具有基因确认的 Dup7 的儿童。使用多方法、多信息源的方法来评估攻击性和对立行为，并考虑了认知功能、表达性语言、自闭症谱系、社交焦虑和多动/冲动（H/I）症状的贡献。
结果
发现攻击性和对立行为水平升高。尽管语言和非语言认知延迟的幼儿最有可能表现出检查者观察到的攻击行为，但认知功能和表达性语言与父母对攻击行为的评分没有显著关系，而自闭症谱系障碍的症状与社会焦虑和 H/I 症状与挑衅/攻击和对立行为有关。
结论
Dup7 中重复的 7q11.23 区域的基因，与环境相互作用，可能导致攻击和对立行为。
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