Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.
Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.
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3q29 缺失综合征中的视觉运动整合缺陷。
DOI：
10.1007/s10803-023-06034-2
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发表时间：
2023
影响因子：
3.9
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
3q29缺失综合征（3q29del）与神经精神和神经发育表型相关。我们之前报道过，高达78%的3q29del患者存在书写运动性无力。我们现在已经探索了这一人群中书写运动表型的细微差别及其与其他合并症的关系。参与者从在线3q29注册表（3q29deletion.org）中招募，进行为期两天的深度表型分析。采用Beery-Buktenica视觉运动整合发育测验（VMI）对32例3q29del患者（男性占62.5%）进行评估。参与者还接受了认知能力、执行功能、适应性行为和学校功能的评估。携带3q29del基因的男性在VMI和运动协调测试中的表现明显低于女性。VMI表现与ADHD诊断和认知能力显著相关。与已发表的22q11.2缺失综合征个体的数据相比，3q29del的个体表现出明显更多的损伤。3q29缺失与视觉-运动整合、视觉感知和运动协调的严重缺陷有关。我们的数据表明3q29del可能是一种非语言学习障碍。未来的研究应该评估患有3q29del的个体是否会从早期干预中受益，包括职业治疗。
3q29 deletion syndrome (3q29del) is associated with neuropsychiatric and neurodevelopmental phenotypes. We previously reported that graphomotor weakness is present in up to 78% of individuals with 3q29del. We have now explored nuances of the graphomotor phenotype and its association with other comorbidities in this population. Participants were recruited from the online 3q29 registry (3q29deletion.org) for two days of deep phenotyping. 32 individuals with 3q29del (62.5% male) were evaluated with the Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI) to assess visual-motor integration. Participants were also evaluated with measures of cognitive ability, executive function, adaptive behavior, and school function. Males with 3q29del performed significantly worse than females on the VMI and Motor Coordination subtest. VMI performance was significantly associated with ADHD diagnosis and cognitive ability. Compared to published data from individuals with 22q11.2 deletion syndrome, individuals with 3q29del showed significantly more impairment. The 3q29 deletion is associated with substantial deficits in visual-motor integration, Visual Perception, and Motor Coordination. Our data suggests that 3q29del may qualify as a nonverbal learning disability. Future studies should assess whether individuals with 3q29del would benefit from early interventions, including occupational therapy.