PDF(Pubmed)
Abstract：
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.
摘要：
3q29缺失综合征（3q29del）与神经精神和神经发育表型有关。我们先前报道，高达78％的3q29del患者存在图形运动无力。现在，我们已经探索了图形运动表型的细微差别及其与该人群中其他合并症的关联。参与者从在线3q29注册中心（3q29deletion.org）招募，进行为期两天的深度表型鉴定。使用Beery-Buktenica视觉-运动整合发育测试（VMI）评估了32名3q29del个体（62.5％男性），以评估视觉-运动整合。参与者还接受了认知能力的评估，执行功能，适应性行为，和学校功能。在VMI和运动协调子测验中，3q29del的男性表现明显差于女性。VMI表现与ADHD诊断和认知能力显著相关。与22q11.2缺失综合征患者的公布数据相比，3q29del患者表现出更明显的损害。3q29缺失与视觉-运动整合的实质性缺陷有关，视觉感知,和电机协调。我们的数据表明3q29del可能属于非语言学习障碍。未来的研究应该评估3q29del患者是否会从早期干预中受益，包括职业治疗。
