Genomic imprinting effects on cognitive and social abilities in prepubertal girls with Turner syndrome

J Clin Endocrinol Metab. 2012 Mar;97(3):E460-4. doi: 10.1210/jc.2011-2916. Epub 2012 Jan 11.


Context: Recent evidence suggests that the cognitive and social manifestations associated with Turner syndrome (TS) might be influenced by epigenetic factors in the form of genomic imprinting. However, due to small and heterogeneous samples, inconsistent results have emerged from these studies.

Objective: The objective of this prospective study was to establish the impact of genomic imprinting on neurocognitive abilities and social functioning in young girls with TS.

Design, setting, and participants: An extensive battery of neuropsychological assessments was administered to 65 children with TS who had never been exposed to estrogen treatment, 24 of whom had an X-chromosome from paternal origin (Xpat) and 41 from maternal origin (Xmat).

Main outcome measures: The Wechsler scales of intelligence, the Motor-Free Visual Spatial test-3, the Wide Range Assessment of Visual Motor Ability, and the attention/executive domain of the NEPSY were used to assess cognitive abilities. Social functioning was assessed with the Social Responsiveness Scale and the Behavior Assessment System for Children-2.

Results: Results showed that although individuals with Xpat obtained lower scores than their counterparts with Xmat on most cognitive and social measures, only the Perceptual Reasoning Index of the intelligence scale yielded significant differences after correction for multiple comparisons.

Conclusion: Overall, these results suggest that although some aspects of the neuropsychological profile of TS may be influenced by epigenetic factors, the sociocognitive phenotype associated with the disorder is not modulated by genomic imprinting.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Attention / physiology
  • Child
  • Child, Preschool
  • Cognition / physiology*
  • Executive Function / physiology
  • Female
  • Genomic Imprinting*
  • Humans
  • Intelligence / genetics*
  • Neuropsychological Tests
  • Prospective Studies
  • Social Behavior
  • Turner Syndrome / genetics*
  • Turner Syndrome / psychology*