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Trajectories of early brain volume development in fragile X syndrome and autism.

OBJECTIVE: To examine patterns of early brain growth in young children with fragile X syndrome (FXS) compared with a comparison group (controls) and a group with idiopathic autism. METHOD: The study included 53 boys 18 to 42 months of age with FXS, 68 boys with idiopathic autism (autism spectrum disorder), and a comparison group of 50 typically developing and developmentally delayed controls. Structural brain volumes were examined using magnetic resonance imaging across two time points, at 2 to 3 and again at 4 to 5 years of age, and total brain volumes and regional (lobar) tissue volumes were examined. In addition, a selected group of subcortical structures implicated in the behavioral features of FXS (e.g., basal ganglia, hippocampus, amygdala) was studied. RESULTS: Children with FXS had larger global brain volumes compared with controls but were not different than children with idiopathic autism, and the rate of brain growth from 2 to 5 years of age paralleled that seen in controls. In contrast to children with idiopathic autism who had generalized cortical lobe enlargement, children with FXS showed specific enlargement in the temporal lobe white matter, cerebellar gray matter, and caudate nucleus, but a significantly smaller amygdala. CONCLUSIONS: This structural longitudinal magnetic resonance imaging study of preschoolers with FXS observed generalized brain overgrowth in children with FXS compared with controls, evident at age 2 and maintained across ages 4 to 5. In addition, different patterns of brain growth that distinguished boys with FXS from boys with idiopathic autism were found.

Pubmed ID: 22917205


  • Hazlett HC
  • Poe MD
  • Lightbody AA
  • Styner M
  • MacFall JR
  • Reiss AL
  • Piven J


Journal of the American Academy of Child and Adolescent Psychiatry

Publication Data

September 24, 2012

Associated Grants

  • Agency: NIMH NIH HHS, Id: MH61696
  • Agency: NIMH NIH HHS, Id: MH64708-05
  • Agency: NICHD NIH HHS, Id: P30 HD003110
  • Agency: NICHD NIH HHS, Id: P30 HD03110
  • Agency: NIMH NIH HHS, Id: R01 MH061696
  • Agency: NIMH NIH HHS, Id: R01 MH064580
  • Agency: NIMH NIH HHS, Id: R01 MH064708
  • Agency: NIMH NIH HHS, Id: R01 MH091645

Mesh Terms

  • Age Factors
  • Amygdala
  • Basal Ganglia
  • Brain
  • Brain Stem
  • Caudate Nucleus
  • Cerebellum
  • Cerebral Cortex
  • Child Development Disorders, Pervasive
  • Child, Preschool
  • Comorbidity
  • Developmental Disabilities
  • Dominance, Cerebral
  • Fragile X Syndrome
  • Hippocampus
  • Humans
  • Image Interpretation, Computer-Assisted
  • Infant
  • Intelligence
  • Longitudinal Studies
  • Magnetic Resonance Imaging
  • Male
  • Neuropsychological Tests
  • Reference Values