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 comor...

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Publicado en:Journal of Autism & Developmental Disorders Vol. 54; no. 8; pp. 3142 - 3155
Autores principales: Pollak, Rebecca M., Burrell, T. Lindsey, Cubells, Joseph F., Klaiman, Cheryl, Murphy, Melissa M., Saulnier, Celine A., Walker, Elaine F., White, Stormi Pulver, Mulle, Jennifer G.
Formato: research tables/charts Journal Article
Publicado: Springer Nature Aug2024
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Aug2024
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      pub: Springer Nature
      place: New York, New York
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        10.1007/s10803-023-06034-2
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        atl: Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.
      aug:
        au:
          Pollak, Rebecca M.
          Burrell, T. Lindsey
          Cubells, Joseph F.
          Klaiman, Cheryl
          Murphy, Melissa M.
          Saulnier, Celine A.
          Walker, Elaine F.
          White, Stormi Pulver
          Mulle, Jennifer G.
        affil: https://ror.org/05vt9qd57 Center for Advanced Biotechnology and Medicine and Department of Psychiatry, Robert Wood Johnson Medical School, Rutgers University, 679 Hoes Lane West, 08854, Piscataway, NJ, USA
      sug:
        subj:
          Mutation
          Phenotype
          Visual Perception Physiology
          Motor Skills
          Human
          Female
          Male
          Cognition
          Executive Function
          Adaptation, Psychological
          Academic Performance
          Early Intervention
          Child, Preschool
          Child
          Adolescence
          Adult
          Funding Source
          Child, Preschool: 2-5 years
          Child: 6-12 years
          Adolescent: 13-18 years
          Adult: 19-44 years
          Female
          Male
      ab: 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.
      pubtype: Academic Journal
      doctype:
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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