Adaptive behavior deficits in individuals with 3q29 deletion syndrome.
Adaptive behavior deficits in individuals with 3q29 deletion syndrome.
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3q29 缺失综合征个体的适应性行为缺陷。
DOI：
10.1101/2023.03.31.23288022
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发表时间：
2023
期刊：
影响因子：
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通讯作者：
Mulle,JenniferG
中科院分区：
文献类型：
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作者：
Pollak,RebeccaM;Burrell,TLindsey;Cubells,JosephF;Klaiman,Cheryl;Murphy,MelissaM;Saulnier,CelineA;Walker,ElaineF;White,StormiPulver;Mulle,JenniferG
背景3q29缺失综合征(3q29del)与神经发育和神经精神表型的风险显著增加相关。轻度至中度智力残疾(ID)在这一人群中很常见，我们团队之前的工作发现了适应行为的严重缺陷。然而，3q29del的适应功能的全貌尚未被描述，也没有与其他与神经发育和神经精神表型风险增加相关的基因组综合征进行比较。方法使用Vineland适应行为量表第三版综合父母/照顾者表格(Vineland-3)对3q29del的个体(n=332，62.5%男性)进行评估。我们在我们的3q29del研究样本中探索了适应行为与认知功能、执行功能以及神经发育和神经精神障碍的关系，并将3q29del的受试者与已发表的脆性X综合征、22q11.2缺失综合征和16p11.2缺失和重复综合征的数据进行了比较。个别的神经发育和神经精神病学诊断对适应行为的影响很小，而共病诊断的累积数量与Vinland-3的表现显著负相关。认知能力和执行功能都与适应行为显著相关，执行功能比认知能力更能预测Vinland-3的成绩。最后，3q29del的适应行为缺陷的严重程度与先前发表的可比基因组疾病的数据不同。结论3q29del的个体在适应行为方面存在显著的缺陷，影响到Vineland-3评估的所有领域。在这一群体中，执行功能比认知能力更能预测适应行为，提示针对执行功能的干预可能是一种有效的治疗策略。
Background3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric phenotypes. Mild to moderate intellectual disability (ID) is common in this population, and previous work by our team identified substantial deficits in adaptive behaviour. However, the full profile of adaptive function in 3q29del has not been described nor has it been compared with other genomic syndromes associated with elevated risk for neurodevelopmental and neuropsychiatric phenotypes.MethodsIndividuals with 3q29del (n= 32, 62.5% male) were evaluated using the Vineland Adaptive Behaviour Scales, Third Edition, Comprehensive Parent/Caregiver Form (Vineland‐3). We explored the relationship between adaptive behaviour and cognitive function, executive function, and neurodevelopmental and neuropsychiatric comorbidities in our 3q29del study sample, and we compared subjects with 3q29del with published data on fragile X syndrome, 22q11.2 deletion syndrome and 16p11.2 deletion and duplication syndromes.ResultsIndividuals with 3q29del had global deficits in adaptive behaviour that were not driven by specific weaknesses in any given domain. Individual neurodevelopmental and neuropsychiatric diagnoses had a small effect on adaptive behaviour, and the cumulative number of comorbid diagnoses was significantly negatively associated with Vineland‐3 performance. Both cognitive ability and executive function were significantly associated with adaptive behaviour, and executive function was a better predictor of Vineland‐3 performance than cognitive ability. Finally, the severity of adaptive behaviour deficits in 3q29del was distinct from previously published data on comparable genomic disorders.ConclusionsIndividuals with 3q29del have significant deficits in adaptive behaviour, affecting all domains assessed by the Vineland‐3. Executive function is a better predictor of adaptive behaviour than cognitive ability in this population and suggests that interventions targeting executive function may be an effective therapeutic strategy.