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22q11.2 deletion syndrome: are motor deficits more than expected for IQ level?

Nancy J Roizen1, Anne M Higgins, Kevin M Antshel

  • 1Department of Psychiatry & Behavioral Sciences, the Center for the Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome and the Communications Disorder Unit, State University of New York-Upstate Medical University, Syracuse, NY, USA. nancy.roizen@uhhospitals.org

The Journal of Pediatrics
|July 22, 2010
PubMed

Insights

Children with 22q11.2 deletion syndrome exhibit specific motor deficits, particularly in axial stability and graphomotor skills, despite comparable overall IQs to control groups. This impacts their balance and fine motor coordination.

Area of Science:

  • Neuroscience
  • Pediatrics
  • Genetics

Background:

  • 22q11.2 deletion syndrome is a common genetic disorder associated with various developmental challenges.
  • Motor function deficits are frequently observed in children with 22q11.2 deletion syndrome, but specific areas of impairment require further elucidation.

Purpose of the Study:

  • To investigate and characterize motor function in school-aged children diagnosed with 22q11.2 deletion syndrome.
  • To compare motor performance between children with 22q11.2 deletion syndrome and a control group with similar intellectual abilities.

Main Methods:

  • Prospective study involving children aged 9-15 years.
  • Comparison of neuropsychological function, including Full Scale IQ (FSIQ), between children with 22q11.2 deletion syndrome and community controls with matched FSIQs.
  • Assessment of motor skills using the Visual Motor Inventory and the Motor Battery, including general neurologic examination, tone, ball skills, and axial stability.

Main Results:

  • Children with 22q11.2 deletion syndrome showed significantly lower performance IQs compared to controls (P<.001).
  • While overall visual-motor integration scores were similar, motor coordination scores were significantly lower in the 22q11.2 group (P=.002).
  • Specific deficits were noted in axial stability (balance) (P=.026), but not in general neurological or tone examinations, or ball skills.

Conclusions:

  • School-aged children with 22q11.2 deletion syndrome experience specific motor impairments.
  • These deficits are most prominent in axial stability and graphomotor skills.
  • These findings highlight the need for targeted interventions addressing motor challenges in this population.
Abstract

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