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Alteration of brain nuclei in obese children with and without Prader-Willi syndrome

Ning Wu1, Huan Yu2, Mingze Xu3

  • 1Department of Medical Imaging, Yanjing Medical College, Capital Medical University, Beijing, China.

Frontiers in Neuroinformatics
|December 5, 2022
PubMed

Insights

Prader-Willi syndrome (PWS) is linked to significant brain nuclei atrophy, distinct from obesity. These structural brain changes in children with PWS may explain their unique clinical symptoms.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Prader-Willi syndrome (PWS) is a complex genetic disorder impacting multiple body systems, primarily recognized by hyperphagia and childhood obesity.
  • While cortical alterations are widely reported, research into brain nuclei changes in children with PWS remains limited.
  • Understanding structural brain alterations is crucial for early diagnosis and management of PWS.

Purpose of the Study:

  • To investigate structural alterations in brain nuclei of children with Prader-Willi syndrome using advanced neuroimaging techniques.
  • To compare brain nuclei morphology and volume in children with PWS, obese children, and healthy controls.
  • To explore the relationship between brain nuclei alterations and clinical manifestations in PWS.

Main Methods:

  • T1-weighted magnetic resonance imaging (MRI) was employed in 12 children with PWS, 18 obese children (OB), and 18 healthy controls.
  • Automated shape analysis evaluated 14 cerebral nuclei, Freesurfer 7.2.0 assessed hypothalamic subregion volumes, and ROI-based analysis examined deep cerebellar nuclei (DCN).
  • Age and sex matching ensured comparability between the study groups.

Main Results:

  • Children with PWS showed significant atrophy in bilateral thalamus, pallidum, hippocampus, amygdala, nucleus accumbens, right caudate, and bilateral hypothalamus.
  • Significant atrophy was also observed in bilateral deep cerebellar nuclei (dentate, interposed, and fastigial nuclei) in the PWS group.
  • No significant differences in brain nuclei were found between the obese (OB) and healthy control groups.

Conclusions:

  • Structural alterations in brain nuclei are a key feature of Prader-Willi syndrome in children.
  • These PWS-specific brain nuclei changes are distinct from those observed in obese children and may underlie PWS symptoms like eating disorders, cognitive deficits, and endocrine abnormalities.
  • The findings highlight the role of imprinted genes in brain development and PWS pathophysiology.

Keywords:
Prader-Willi syndromebrain nucleichildhood obesitydeep cerebellar nucleigenetic imprintinghypothalamusshape analysis

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