3q29缺失综合征的视觉-运动整合缺陷

IF 3.2 2区 心理学 Q1 PSYCHOLOGY, DEVELOPMENTAL
Rebecca M Pollak, T Lindsey Burrell, Joseph F Cubells, Cheryl Klaiman, Melissa M Murphy, Celine A Saulnier, Elaine F Walker, Stormi Pulver White, Jennifer G Mulle
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引用次数: 0

摘要

3q29 缺失综合征(3q29del)与神经精神和神经发育表型有关。我们以前曾报道,高达 78% 的 3q29del 患者存在图形运动无力。现在,我们对这一人群中图形运动表型的细微差别及其与其他合并症的关联进行了探索。我们从在线 3q29 注册中心(3q29deletion.org)招募了参与者,进行了为期两天的深度表型分析。32名3q29del患者(62.5%为男性)接受了Beery-Buktenica视觉-运动整合发育测试(VMI),以评估视觉-运动整合能力。此外,还对参与者的认知能力、执行功能、适应行为和学校功能进行了评估。患有 3q29del 的男性在 VMI 和运动协调副测验中的表现明显差于女性。VMI表现与多动症诊断和认知能力有明显关联。与已发表的 22q11.2 缺失综合征患者的数据相比,3q29del 患者的损伤程度明显更高。3q29 缺失与视觉-运动整合、视觉感知和运动协调方面的严重缺陷有关。我们的数据表明,3q29del 可能属于非语言学习障碍。未来的研究应评估 3q29del 患儿是否会从早期干预(包括职业疗法)中获益。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.

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.

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来源期刊
CiteScore
8.00
自引率
10.30%
发文量
433
期刊介绍: The Journal of Autism and Developmental Disorders seeks to advance theoretical and applied research as well as examine and evaluate clinical diagnoses and treatments for autism and related disabilities. JADD encourages research submissions on the causes of ASDs and related disorders, including genetic, immunological, and environmental factors; diagnosis and assessment tools (e.g., for early detection as well as behavioral and communications characteristics); and prevention and treatment options. Sample topics include: Social responsiveness in young children with autism Advances in diagnosing and reporting autism Omega-3 fatty acids to treat autism symptoms Parental and child adherence to behavioral and medical treatments for autism Increasing independent task completion by students with autism spectrum disorder Does laughter differ in children with autism? Predicting ASD diagnosis and social impairment in younger siblings of children with autism The effects of psychotropic and nonpsychotropic medication with adolescents and adults with ASD Increasing independence for individuals with ASDs Group interventions to promote social skills in school-aged children with ASDs Standard diagnostic measures for ASDs Substance abuse in adults with autism Differentiating between ADHD and autism symptoms Social competence and social skills training and interventions for children with ASDs Therapeutic horseback riding and social functioning in children with autism Authors and readers of the Journal of Autism and Developmental Disorders include sch olars, researchers, professionals, policy makers, and graduate students from a broad range of cross-disciplines, including developmental, clinical child, and school psychology; pediatrics; psychiatry; education; social work and counseling; speech, communication, and physical therapy; medicine and neuroscience; and public health.
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