Journal
ANNALS OF NEUROLOGY
Volume 63, Issue 1, Pages 40-51Publisher
WILEY
DOI: 10.1002/ana.21243
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Funding
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [R01HD031715] Funding Source: NIH RePORTER
- NATIONAL CENTER FOR RESEARCH RESOURCES [R21RR019771] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF MENTAL HEALTH [R01MH050047, K02MH001142] Funding Source: NIH RePORTER
- NCRR NIH HHS [RR019771, R21 RR019771-02, R21 RR019771] Funding Source: Medline
- NIBIB NIH HHS [EB01651] Funding Source: Medline
- NICHD NIH HHS [HD31715, R01 HD031715] Funding Source: Medline
- NIMH NIH HHS [K02 MH001142-09, MH01142, MH50047, R01 MH050047-09, R01 MH050047] Funding Source: Medline
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Objective: To determine how neuroanatomic variation in children and adolescents with fragile X syndrome is linked to reduced levels of the fragile X mental retardation-1 protein and to aberrant cognition and behavior. Methods: This study included 84 children and adolescents with the fragile X full mutation and 72 typically developing control subjects matched for age and sex. Brain morphology was assessed with volumetric, voxel-based, and surface-based modeling approaches. Intelligence quotient was evaluated with standard cognitive testing, whereas abnormal behaviors were measured with the Autism Behavior Checklist and the Aberrant Behavior Checklist. Results: Significantly increased size of the caudate nucleus and decreased size of the posterior cerebellar vermis, amygdala, and superior temporal gyrus were present in the fragile X group. Subjects with fragile X also demonstrated an abnormal profile of cortical lobe volumes. A receiver operating characteristic analysis identified the combination of a large caudate with small posterior cerebellar vermis, amygdala, and superior temporal gyrus as distinguishing children with fragile X from control subjects with a high level of sensitivity and specificity. Large caudate and small posterior cerebellar vermis were associated with lower fragile X mental retardation protein levels and more pronounced cognitive deficits and aberrant behaviors. Interpretation: Abnormal development of specific brain regions characterizes a neuroanatomic phenotype associated with fragile X syndrome and may mediate the effects of FMR1 gene mutations on the cognitive and behavioral features of the disorder. Fragile X syndrome provides a model for elucidating critical linkages among gene, brain, and cognition in children with serious neurodevelopmental disorders.
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