Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome
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ORIGINAL ARTICLE
Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome Kenichi Yamada 1
&
Masaki Watanabe 1 & Kiyotaka Suzuki 1 & Yuji Suzuki 1
# The Author(s) 2020
Abstract The objective of this study was to investigate lobule-specific cerebellar structural alterations relevant to clinical behavioral characteristics of Prader-Willi syndrome (PWS). We performed a case-control study of 21 Japanese individuals with PWS (age; median 21.0, range 13–50 years, 14 males, 7 females) and 40 age- and sex-matched healthy controls with typical development. Participants underwent 3-Tesla magnetic resonance imaging. Three-dimensional T1-weighted images were assessed for cerebellar lobular volume and adjusted for total intracerebellar volume (TIV) using a spatially unbiased atlas template to give a relative volume ratio. A region of interest analysis included the deep cerebellar nuclei. A correlation analysis was performed between the volumetric data and the clinical behavioral scores derived from the standard questionnaires (hyperphagia, autism, obsession, and maladaptive index) for global intelligence assessment in paired subgroups. In individuals with PWS, TIV was significantly reduced compared with that of controls (p < 0.05, family-wise error corrected; mean [standard deviation], 1014.1 [93.0] mm3). Decreased relative lobular volume ratios were observed in posterior inferior lobules with age, sex, and TIV as covariates (Crus I, Crus II, lobules VIIb, VIIIa, VIIIb, and IX). However, increased ratios were found in the dentate nuclei bilaterally in individuals with PWS (p < 0.01); the mean (standard deviation) × 10−3 was as follows: left, 1.58 (0.26); right, 1.67 (0.30). The altered lobular volume ratios showed negative correlations with hyperphagic and autistic characteristics and positive correlations with obsessive and intellectual characteristics. This study provides the first objective evidence of topographic patterns of volume differences in cerebellar structures consistent with clinical behavioral characteristics in individuals with PWS and strongly suggests a cerebellar contribution to altered functional brain connectivity in PWS. Keywords Autism . Cerebellum . Dentate nucleus . Hyperphagia . Obesity . Prader-Willi syndrome
Introduction Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is characterized by a specific developmental trajectory, which includes hypotonia, developmental delay, hyperphagia typically causing obesity, and a higher vulnerability to maladaptive behavior [1–4]. These symptoms typically develop in early life in a phase-dependent manner and frequently overlap Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12311-020-01163-1) contains supplementary material, which is available to authorized users. * Kenichi Yamada [email protected] 1
Center for Integrated Human Brain Science, Brain Research Institute, University of Niigata, 1-757, Asahimachi, Chuo-ku, Niigata 9518585, Japan
with other f
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