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Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome

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 fem...

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Autores principales: Yamada, Kenichi, Watanabe, Masaki, Suzuki, Kiyotaka, Suzuki, Yuji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7588377/
https://www.ncbi.nlm.nih.gov/pubmed/32661798
http://dx.doi.org/10.1007/s12311-020-01163-1
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author Yamada, Kenichi
Watanabe, Masaki
Suzuki, Kiyotaka
Suzuki, Yuji
author_facet Yamada, Kenichi
Watanabe, Masaki
Suzuki, Kiyotaka
Suzuki, Yuji
author_sort Yamada, Kenichi
collection PubMed
description 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 T(1)-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] mm(3)). 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s12311-020-01163-1) contains supplementary material, which is available to authorized users.
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spelling pubmed-75883772020-10-29 Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome Yamada, Kenichi Watanabe, Masaki Suzuki, Kiyotaka Suzuki, Yuji Cerebellum Original Article 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 T(1)-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] mm(3)). 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s12311-020-01163-1) contains supplementary material, which is available to authorized users. Springer US 2020-07-13 2020 /pmc/articles/PMC7588377/ /pubmed/32661798 http://dx.doi.org/10.1007/s12311-020-01163-1 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Original Article
Yamada, Kenichi
Watanabe, Masaki
Suzuki, Kiyotaka
Suzuki, Yuji
Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome
title Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome
title_full Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome
title_fullStr Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome
title_full_unstemmed Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome
title_short Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome
title_sort cerebellar volumes associate with behavioral phenotypes in prader-willi syndrome
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7588377/
https://www.ncbi.nlm.nih.gov/pubmed/32661798
http://dx.doi.org/10.1007/s12311-020-01163-1
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