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The Behavioral Phenotype of 7q11.23 Duplication Syndrome Includes Risk for Oppositional Behavior and Aggression
Journal of Developmental & Behavioral Pediatrics ( IF 1.8 ) Pub Date : 2022-08-01 , DOI: 10.1097/dbp.0000000000001068
Bonita P Klein-Tasman 1 , Brianna D Yund 2 , Carolyn B Mervis 3
Affiliation  

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.



中文翻译:

7q11.23 重复综合征的行为表型包括对抗行为和攻击性的风险

客观的: 

7q11.23 重复综合征(Dup7) 是一种遗传性疾病,具有与认知和行为特征相关的可变表型,包括高发的表达性语言困难、社交焦虑以及对立或破坏性行为。研究了攻击性和对抗性的相关性。

方法: 

参与者是 63 名年龄在 4 岁至 17 岁之间的患有 Dup7 基因的儿童。采用多方法、多信息来源的方法来评估攻击性和对抗行为,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: 

发现攻击性和对抗行为水平升高。认知功能、表达性语言和自闭症谱系障碍症状与父母对攻击性的评分没有显着相关,尽管有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性。社交焦虑和 H/I 症状与挑衅/攻击和对抗行为有关。

结论: 

7q11.23 区域中的基因在 Dup7 中复制,与环境相互作用,可能会导致攻击性和对抗性行为。

更新日期:2022-07-26
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