Brain Development in School-Age and Adolescent Girls: Effects of Turner Syndrome, Estrogen Therapy, and Genomic Imprinting.

Abstract:

BACKGROUND:The study of Turner syndrome (TS) offers a unique window of opportunity for advancing scientific knowledge of how X chromosome gene imprinting, epigenetic factors, hormonal milieu, and chronologic age affect brain development in females. METHODS:We described brain growth trajectories in 55 girls with TS and 53 typically developing girls (258 magnetic resonance imaging datasets) spanning 5 years. Using novel nonparametric and mixed effects analytic approaches, we evaluated influences of X chromosome genomic imprinting and hormone replacement therapy on brain development. RESULTS:Parieto-occipital gray and white matter regions showed slower growth during typical pubertal timing in girls with TS relative to typically developing girls. In contrast, some basal ganglia, cerebellar, and limited cortical areas showed enhanced volume growth with peaks around 10 years of age. CONCLUSIONS:The parieto-occipital finding suggests that girls with TS may be particularly vulnerable to altered brain development during adolescence. Basal ganglia regions may be relatively preserved in TS owing to their maturational growth before or early in typical pubertal years. Taken together, our findings indicate that particular brain regions are more vulnerable to TS genetic and hormonal effects during puberty. These specific alterations in neurodevelopment may be more likely to affect long-term cognitive behavioral outcomes in young girls with this common genetic condition.

journal_name

Biol Psychiatry

journal_title

Biological psychiatry

authors

O'Donoghue S,Green T,Ross JL,Hallmayer J,Lin X,Jo B,Huffman LC,Hong DS,Reiss AL

doi

10.1016/j.biopsych.2019.07.032

subject

Has Abstract

pub_date

2020-01-15 00:00:00

pages

113-122

issue

2

eissn

0006-3223

issn

1873-2402

pii

S0006-3223(19)31584-7

journal_volume

87

pub_type

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