Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.

Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

Publication: <2006- >: New York, NY : Springer
Original Publication: New York, Plenum Press.

Chromosome Deletion* ; Chromosomes, Human, Pair 3*/genetics ; Psychomotor Performance*/physiology; Humans ; Male ; Female ; Child ; Adolescent ; Visual Perception/physiology ; Chromosome Disorders/genetics ; Chromosome Disorders/physiopathology ; Phenotype ; Executive Function/physiology ; Young Adult ; Adult ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Developmental Disabilities

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.
(© 2023. The Author(s).)

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R01 MH110701 United States MH NIMH NIH HHS

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

Chromosome 3q29 Deletion Syndrome

Date Created: 20230624 Date Completed: 20240805 Latest Revision: 20240808

20240808

PMC11300491

10.1007/s10803-023-06034-2

37354284