Sex Differences in Early Brain Development; Brain Development in Turner Syndrome



Status:Completed
Conditions:Other Indications
Therapuetic Areas:Other
Healthy:No
Age Range:Any - 2
Updated:3/30/2013
Start Date:October 2006
End Date:May 2013
Contact:Rebecca C Knickmeyer, Ph.D.
Email:rebecca_knickmeyer@med.unc.edu
Phone:919-966-2216

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Relative risk for many psychiatric disorders differs dramatically in males and females.
Early-onset disorders, such as autism, occur more often in males; other conditions, such as
schizophrenia, occur at similar rates in males and females, but the sexes differ in
expression. It has been hypothesized that the prevalence and expression of these disorders
is related to sex differences in brain development. X-chromosome effects and early exposure
to gonadal hormones are strong candidates for a causal role. The aims of the research are
(1) to characterize sex differences in brain development from birth to age 2; (2) to test
whether brain development is altered in infants with Turner syndrome, a well-defined genetic
disorder resulting from the partial or complete loss of one of the sex chromosomes. To
address aim 1, high resolution MRI, including diffusion tensor imaging (DTI), will be used
to characterize sex differences in brain development from birth to age 2 in a longitudinal
cohort of 250 children. To address aim 2, high resolution MRI, including DTI, will be used
to compare brain development in 70 infants with Turner syndrome (X monosomy) to matched
controls from aim 1. The investigators hypothesize that sex differences in gray and white
matter development and in white matter maturation as assessed by DTI will be present during
the first 2 years of life and that children with TS will exhibit abnormal gray and white
matter development in the neonatal period.


Inclusion Criteria:

- For controls a child must have a normal ultrasound at the 18 week prenatal visit and
the absence of major medical or psychiatric conditions in the mother.

- Children with Turner Syndrome must have diagnosis confirmed by genetic testing.

Exclusion Criteria:

- For controls - major medical or psychiatric conditions in the mother and major
medical problems or congenital conditions in the child.

- For Turner children - The study is open to all TS karyotypes except those with Y
chromosome material.

- For both groups children with conditions that preclude participating in an MRI scan (
i.e. metal in the body)
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Chapel Hill, North Carolina 27599
(919) 962-2211
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