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Meta-analysis of Voxel-Based Neuroimaging Studies using Seed-based d Mapping with Permutation of Subject Images SDM-PSI
Published on: November 27, 2019
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.
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.
Abstract:
Individuals with Prader-Willi syndrome (PWS) exhibit complex behavioral characteristics, including hyperphagia, autistic features, and subsequent age-related maladaptive behaviors. While this suggests functional involvements of subcortical, limbic, and brainstem areas, developmental abnormalities in such structures remain to be investigated systematically. Twenty-one Japanese individuals with PWS and 32 healthy controls with typical development were included. T1-weighted three-dimensional structural magnetic resonance images were analyzed for subcortical, limbic, and brainstem structural volumes, with age as a covariate, using a model-based automatic segmentation tool. Correlations were determined between each volume measurement and behavioral characteristics as indexed by questionnaires and block test scores for hyperphagia (HQ), autistic and obsessional traits, non-verbal intelligence (IQ), and maladaptive behavior (VABS_mal). Compared with the control group, the PWS group showed significantly reduced relative volume ratios per total intracranial volume (TIV) in thalamus, amygdala, and brainstem structures, along with TIV and native volumes in all substructures. While the brainstem volume ratio was significantly lower in all age ranges, amygdala volume ratios were significantly lower during early adulthood and negatively correlated to HQ and VABS_mal but positively correlated to Kohs IQ. Thus, limbic and brainstem volume alterations and differential volume trajectories may contribute to the developmental and behavioral pathophysiology of PWS.
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