Evaluation of psychological functioning and neuroanatomy in children with 18q- following growth hormone treatment

Hester, Andrea Lynn
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This study investigates psychological functioning and neuroanatomical underpinnings in children with 18q- before and after growth hormone (GH) treatment. Children with 18q- were referred for participation in this study by the Chromosome 18 Clinical Research Center. Overall, children with 18q- scored lower across composite measures of cognitive and adaptive behavior functioning, and higher on a measure of behavioral symptoms when compared to controls, both before and after GH treatment. Analyses of brain regions revealed neuroanatomical abnormalities in children with 18q-, including smaller midsagittal corpus callosum area, larger lateral ventricle volume, and reversed cerebral hemisphere asymmetry when compared to controls. Contrary to expectations, control participants did not have larger right than left cerebral hemispheres, and instead exhibited overall symmetrical hemispheres. Total cerebral volume was found to not significantly differ in participants with 18q- and controls. Post GH treatment, there was

vii significant growth in children with 18q- in regard to head circumference and midsagittal corpus callosum area, and a trend towards greater right hemispheric volume, particularly in female participants. The neuroanatomical abnormalities associated with 18q- suggest that there is significant and pervasive neural system disruption, likely associated with global dysmyelination previously documented in these individuals. It probable that the neuroanatomical abnormalities associated with 18q- have various functional implications in addition to those found in the comparatively impaired levels of functioning across psychological measures. It is hoped that the results of this study will expand knowledge regarding the relationship of neurological underpinnings with psychological functioning in individuals with 18q-, and ultimately, help inform medical professionals, parents, and educators regarding the unique needs that children with this disorder present.