Visual-Motor Integration Deficits in 3q29 Deletion Syndrome

Abstract

Abstract3q29 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.

Beyond IQ: Executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome

“…The clinical phenotype of 3q29del is heterogeneous, ranging from mild to moderate intellectual disability (ID) (Ballif et al, 2008; Cox & Butler, 2015; Glassford et al, 2016; Klaiman et al, 2022; Sanchez Russo et al, 2021; Willatt et al, 2005) to a 19-fold increased risk for autism spectrum disorder (ASD) (Itsara et al, 2009; Pollak et al, 2019; Sanders et al, 2015) and a greater than 40-fold increased risk for schizophrenia spectrum disorders (SZ) (Kirov et al, 2012; Marshall et al, 2017; Mulle, 2015; Mulle et al, 2010; Szatkiewicz et al, 2014). Recent work by our team has uncovered additional phenotypes associated with 3q29del, including attention deficit/hyperactivity disorder (ADHD) and graphomotor weakness (Klaiman et al, 2022; Pollak et al, 2023b; Sanchez Russo et al, 2021). Further, 47% of study participants were found to have clinically significant executive function deficits (Klaiman et al, 2022; Sanchez Russo et al, 2021).…”