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Reduced cortical complexity in children with Prader-Willi Syndrome and its association with cognitive impairment and

Akvile Lukoshe1, Anita C Hokken-Koelega1, Aad van der Lugt2

  • 1Dutch Growth Research Foundation, Rotterdam, The Netherlands; Department of Pediatrics, Erasmus Medical Centre Rotterdam/Sophia Children's Hospital Rotterdam Rotterdam, The Netherlands.

Plos One
|September 17, 2014
PubMed

Insights

Children with Prader-Willi Syndrome (PWS) show reduced cortical complexity, impacting cognitive function. This neuroimaging study quantifies brain differences in PWS, linking lower gyrification to developmental delays.

Area of Science:

  • Neuroimaging
  • Developmental Neuroscience
  • Genetics

Background:

  • Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder affecting the central nervous system.
  • Previous studies qualitatively suggested polymicrogyria in adults with PWS.
  • Quantitative neuroimaging of cortical morphology in children with PWS was lacking.

Purpose of the Study:

  • To quantitatively investigate and compare cortical complexity in children with PWS versus healthy controls.
  • To explore differences in cortical morphology between PWS genetic subtypes (deletion vs. maternal uniparental disomy).
  • To examine the relationship between cortical complexity and intelligence in children with PWS.

Main Methods:

  • Acquired high-resolution structural MRI scans from 24 children with genetically confirmed PWS and 11 typically developing controls.
  • Quantified local gyrification index (lGI) using FreeSurfer software.
  • Compared lGI, cortical surface area, and thickness between groups and correlated with IQ measures.

Main Results:

  • Children with PWS exhibited significantly lower lGI in frontal, parietal, and temporal lobes compared to controls.
  • Lower lGI in PWS was associated with reduced cortical surface area, but not thickness.
  • In PWS, lGI correlated with Total and Verbal IQ, and differences were noted between genetic subtypes.

Conclusions:

  • Reduced cortical complexity in children with PWS contributes to cognitive impairment and developmental delay.
  • These findings suggest alterations in early brain development gene networks underlie PWS-related cognitive deficits.
  • Cortical complexity may serve as a biomarker for cognitive outcomes in PWS.
Abstract

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