Neuromotor deficits in children with the 22q11 deletion syndrome



The 22q11 chromosomal deletion syndrome (22q11DS) is associated with a heterogeneous physical phenotype, neurocognitive deficits, and increased risk of later psychiatric illness. Sporadic clinical reports suggested motor differences, but quantitative studies of movement in children with 22q11DS are rare. If present in a majority of affected school-age children, characterization of neuromotor deficits may prove to be critical for intervention, neurocognitive test interpretation, and understanding etiology. We administered the Movement Assessment Battery for Children to 72 children ages 4.3 to 16.1, including 49 children confirmed positive for the 22q11 deletion and 23 control siblings. We predicted a higher frequency of global and domain impairment in manual dexterity, eye–hand coordination, and balance among affected children. Ninety-four percent of affected children had marked neuromotor deficits, and group scores differed broadly for both global and subarea measures. Secondary analyses showed no impairment differences between younger and older children with 22q11DS, and longitudinal trajectories for 12 affected children suggested stability of deficits over 3-year intervals. Neuromotor deficits in children with 22q11DS occur early in development, continue throughout the school-age years, should be considered in the interpretation of motor-based achievement and IQ tests, and require targeted and ongoing remediation throughout childhood and adolescence. Further studies examining the specificity of motor impairment to 22q11DS are needed. © 2006 Movement Disorder Society