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Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome

Akvile Lukoshe1, Tonya White, Marcus N Schmidt

  • 1Dutch Growth Research Foundation, Postbus 23068, Rotterdam 3001, KB, The Netherlands. a.lukose@kindengroei.nl.

Journal of Neurodevelopmental Disorders
|October 23, 2013
PubMed

Insights

Children with Prader-Willi syndrome (PWS) exhibit impaired brain growth. Genetic subtypes show distinct patterns: maternal uniparental disomy (mUPD) suggests brain atrophy, while deletion (DEL) indicates arrested development.

Area of Science:

  • Neurogenetics
  • Developmental Neuroscience
  • Pediatric Neurology

Background:

  • Prader-Willi syndrome (PWS) is a complex neurogenetic disorder linked to central nervous system (CNS) dysfunction.
  • Limited understanding exists regarding brain structure development in children with PWS.
  • Investigating global brain morphology and genetic subtype differences in PWS is crucial.

Purpose of the Study:

  • To investigate global brain morphology in children with PWS.
  • To compare brain structure differences between genetic subtypes: deletion (DEL) and maternal uniparental disomy (mUPD).
  • To conduct exploratory cortical and subcortical focal analyses.

Main Methods:

  • Structural MRI scans were acquired from 20 children with genetically confirmed PWS (11 DEL, 9 mUPD).
  • A control group of 11 typically developing siblings was included for comparison.
  • Brain morphology analysis was performed using FreeSurfer software.

Main Results:

  • Both DEL and mUPD groups showed smaller brainstem volumes and trends towards reduced cortical surface area and white matter volume.
  • Children with mUPD exhibited enlarged lateral ventricles, increased cortical CSF volume, and a trend towards increased cortical thickness.
  • Children with DEL had smaller cerebellums and reduced cortical/subcortical gray matter volumes; focal analysis revealed white matter reductions in specific frontal, cingulate, and precuneus regions in mUPD.

Conclusions:

  • Children with PWS demonstrate impaired brain growth.
  • mUPD subtype is associated with early brain atrophy, while DEL subtype shows arrested, non-deviant development with minimal atrophy.
  • Global brain measurements indicate divergent neurodevelopmental trajectories in DEL and mUPD subtypes of PWS.
Abstract

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