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. 2024 Aug;54(8):3142-3154.
doi: 10.1007/s10803-023-06034-2. Epub 2023 Jun 24.

Visual-Motor Integration Deficits in 3q29 Deletion Syndrome

Rebecca M Pollak  1 , T Lindsey Burrell  2 , Joseph F Cubells  3   4 , Cheryl Klaiman  2   5 , Melissa M Murphy  2 , Celine A Saulnier  2   6 , Elaine F Walker  7 , Stormi Pulver White  2   5 , Jennifer G Mulle  8   9
Affiliations

Visual-Motor Integration Deficits in 3q29 Deletion Syndrome

Rebecca M Pollak et al. J Autism Dev Disord. 2024 Aug.

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.

Keywords: 3q29 Deletion; Beery VMI; Beery-Buktenica Developmental Test of Visual-Motor Integration; Copy number variants; Graphomotor weakness; VMI.

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Conflict of interest statement

CAS reports receiving royalties from Pearson Assessments for the Vineland-3. All other authors report no competing interests.

Figures

Fig. 1
Fig. 1
A Distribution of scores on the VMI, the Visual Perception subtest, and the Motor Coordination subtest for study participants with 3q29del. B Sample of 3q29del study subject performance on items 16–18 of the VMI. C Sample of 3q29del study subject performance on items 14–16 of the Motor Coordination subtest
Fig. 2
Fig. 2
A VMI score, showing that females with 3q29del (n = 12) score significantly higher than males (n = 20). B Visual Perception subtest score, showing no significant difference between females and males with 3q29del. C Motor Coordination subtest score, showing that females with 3q29del score significantly higher than males. n.s. not significant; *p < 0.05; ***p < 0.001
Fig. 3
Fig. 3
A VMI score, showing that individuals with 3q29del and ADHD (n = 20) score significantly higher than individuals with 3q29del and no ADHD (n = 12). B Relationship between VMI score and composite IQ, showing a strong positive correlation. C Relationship between VMI score and BRIEF Global Executive Composite score, showing a weak positive correlation. D Relationship between VMI score and BRIEF plan/organize subscale score, showing a very weak positive correlation. *p < 0.05
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