Visual-motor integration deficits in 3q29 deletion syndrome

Pollak, Rebecca M; Burrell, T. Lindsey; Cubells, Joseph F.; Klaiman, Cheryl; Murphy, Melissa M.; Saulnier, Celine A.; Walker, Elaine F.; White, Steven J.; Mullé, Jennifer G.

doi:10.1101/2022.09.15.508134

Cited by 2 publications

(3 citation statements)

References 74 publications

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“…Moreover, we found that the Written Communication subdomain is a relative weakness in individuals with 3q29del, which measures reading and writing skills. This is consistent with prior work by our team identifying significant deficits in visual-motor integration, particularly motor coordination and graphomotor abilities, in this population (Sanchez Russo et al, 2021, Pollak et al, 2022a, highlighting the need for fostering writing skills. Additionally, we have reported that individuals with 3q29del have relatively well-preserved expressive and social communication skills (Pollak et al, 2022b, Pollak et al, 2019; thus, communication-focused interventions should leverage these relative strengths.…”

Section: Discussionsupporting

confidence: 91%

Adaptive behavior deficits in individuals with 3q29 deletion syndrome

Pollak

Burrell

Cubells

et al. 2023

Preprint

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Background 3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric phenotypes. Mild to moderate intellectual disability (ID) is common in this population, and previous work by our team identified substantial deficits in adaptive behavior. However, the full profile of adaptive function in 3q29del has not been described, nor has it been compared to other genomic syndromes associated with elevated risk for neurodevelopmental and neuropsychiatric phenotypes. Methods Individuals with 3q29del (n=32, 62.5% male) were evaluated using the Vineland Adaptive Behavior Scales, Third Edition, Comprehensive Parent/Caregiver Form (Vineland-3). We explored the relationship between adaptive behavior and cognitive function, executive function, and neurodevelopmental and neuropsychiatric comorbidities in our 3q29del study sample, and we compared subjects with 3q29del to published data on Fragile X syndrome, 22q11.2 deletion syndrome, and 16p11.2 deletion and duplication syndromes. Results Individuals with 3q29del had global deficits in adaptive behavior that were not driven by specific weaknesses in any given domain. Individual neurodevelopmental and neuropsychiatric diagnoses had a small effect on adaptive behavior, and the cumulative number of comorbid diagnoses was significantly negatively associated with Vineland-3 performance. Both cognitive ability and executive function were significantly associated with adaptive behavior, and executive function was a better predictor of Vineland-3 performance than cognitive ability. Finally, the severity of adaptive behavior deficits in 3q29del was distinct from previously published data on comparable genomic disorders. Conclusions Individuals with 3q29del have significant deficits in adaptive behavior, affecting all domains assessed by the Vineland-3. Executive function is a better predictor of adaptive behavior than cognitive ability in this population and suggests that interventions targeting executive function may be an effective therapeutic strategy.

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Section: Discussionsupporting

confidence: 91%

Adaptive behavior deficits in individuals with 3q29 deletion syndrome

Pollak

Burrell

Cubells

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…2021; Pollak et al . 2022a), highlighting the need for fostering writing skills. Additionally, we have reported that individuals with 3q29del have relatively well‐preserved expressive and social communication skills (Pollak et al .…”

Section: Discussionmentioning

confidence: 99%

“…Further, our team has identified previously unreported associations between the 3q29 deletion and graphomotor weakness and ADHD (Pollak et al . 2022a), as well as a staggering degree of neurodevelopmental and neuropsychiatric comorbidities in this population (Murphy et al . 2018; Sanchez Russo et al .…”

Section: Introductionmentioning

confidence: 99%

Adaptive behaviour deficits in individuals with 3q29 deletion syndrome

Pollak,

Burrell,

Cubells

et al. 2023

J intellect Disabil Res

View full text Add to dashboard Cite

Background3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric phenotypes. Mild to moderate intellectual disability (ID) is common in this population, and previous work by our team identified substantial deficits in adaptive behaviour. However, the full profile of adaptive function in 3q29del has not been described nor has it been compared with other genomic syndromes associated with elevated risk for neurodevelopmental and neuropsychiatric phenotypes.MethodsIndividuals with 3q29del (n = 32, 62.5% male) were evaluated using the Vineland Adaptive Behaviour Scales, Third Edition, Comprehensive Parent/Caregiver Form (Vineland‐3). We explored the relationship between adaptive behaviour and cognitive function, executive function, and neurodevelopmental and neuropsychiatric comorbidities in our 3q29del study sample, and we compared subjects with 3q29del with published data on fragile X syndrome, 22q11.2 deletion syndrome and 16p11.2 deletion and duplication syndromes.ResultsIndividuals with 3q29del had global deficits in adaptive behaviour that were not driven by specific weaknesses in any given domain. Individual neurodevelopmental and neuropsychiatric diagnoses had a small effect on adaptive behaviour, and the cumulative number of comorbid diagnoses was significantly negatively associated with Vineland‐3 performance. Both cognitive ability and executive function were significantly associated with adaptive behaviour, and executive function was a better predictor of Vineland‐3 performance than cognitive ability. Finally, the severity of adaptive behaviour deficits in 3q29del was distinct from previously published data on comparable genomic disorders.ConclusionsIndividuals with 3q29del have significant deficits in adaptive behaviour, affecting all domains assessed by the Vineland‐3. Executive function is a better predictor of adaptive behaviour than cognitive ability in this population and suggests that interventions targeting executive function may be an effective therapeutic strategy.

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Visual-motor integration deficits in 3q29 deletion syndrome

Cited by 2 publications

References 74 publications

Adaptive behavior deficits in individuals with 3q29 deletion syndrome

Adaptive behavior deficits in individuals with 3q29 deletion syndrome

Adaptive behaviour deficits in individuals with 3q29 deletion syndrome

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