Differential volume reductions in the subcortical, limbic, and brainstem structures associated with behavior in

Kenichi Yamada1,2, Masaki Watanabe3, Kiyotaka Suzuki3

  • 1Center for Integrated Human Brain Science, Brain Research Institute, University of Niigata, 1 Asahimachi, Chuo-ku, Niigata, 9518585, Japan. kyamada@hachicl.jp.

Scientific Reports
|March 24, 2022
PubMed

Insights

Prader-Willi syndrome (PWS) is linked to smaller brain structures, including the thalamus, amygdala, and brainstem. These volume differences correlate with behavioral issues like hyperphagia and maladaptive behaviors in PWS patients.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Prader-Willi syndrome (PWS) is a complex genetic disorder characterized by hyperphagia, autistic features, and maladaptive behaviors.
  • These behavioral phenotypes suggest involvement of subcortical, limbic, and brainstem regions, but developmental structural abnormalities require systematic investigation.

Purpose of the Study:

  • To systematically investigate subcortical, limbic, and brainstem structural volumes in individuals with PWS.
  • To correlate these structural volumes with key behavioral characteristics associated with PWS.

Main Methods:

  • Structural magnetic resonance imaging (T1-weighted, 3D) was used to analyze brain volumes in 21 Japanese individuals with PWS and 32 healthy controls.
  • Model-based automatic segmentation and statistical analyses (controlling for age and total intracranial volume) were employed.
  • Correlations were assessed between brain volumes and behavioral measures including hyperphagia (HQ), autistic traits, non-verbal intelligence (IQ), and maladaptive behavior (VABS_mal).

Main Results:

  • The PWS group exhibited significantly reduced relative volume ratios in the thalamus, amygdala, and brainstem compared to controls.
  • Brainstem volume ratios were lower across all age ranges in PWS.
  • Amygdala volume ratios were reduced in early adulthood and correlated negatively with hyperphagia and maladaptive behaviors, but positively with IQ.

Conclusions:

  • Limbic and brainstem structural alterations are implicated in the pathophysiology of Prader-Willi syndrome.
  • Differential volume trajectories in these brain regions may contribute to the developmental and behavioral phenotype of PWS.