Cerebellar Dysfunction in Adults with Prader Willi Syndrome
Severe hypotonia during infancy is a hallmark feature of Prader Willi syndrome (PWS). Despite its transient expression, moto development is delayed and deficiencies in motor coordination are present at older ages, with no clear pathophysiological mechanism yet identified. The diverse motor coordinat...
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doaj-65ddc583e3e4444a9718abb5bd547c362021-08-06T15:26:47ZengMDPI AGJournal of Clinical Medicine2077-03832021-07-01103320332010.3390/jcm10153320Cerebellar Dysfunction in Adults with Prader Willi SyndromeLaura Blanco-Hinojo0Laia Casamitjana1Jesus Pujol2Gerard Martínez-Vilavella3Susanna Esteba-Castillo4Olga Giménez-Palop5Valentín Freijo6Joan Deus7Assumpta Caixàs8MRI Research Unit, Department of Radiology, Hospital del Mar, 08003 Barcelona, SpainEndocrinology and Nutrition Department, Institut d’Investigació I Innovació Parc Taulí I3PT, Parc Taulí Hospital Universitari, 08208 Sabadell, SpainMRI Research Unit, Department of Radiology, Hospital del Mar, 08003 Barcelona, SpainMRI Research Unit, Department of Radiology, Hospital del Mar, 08003 Barcelona, SpainSpecialized Service in Mental Health and Intellectual Disability, Institut Assistència Sanitària (IAS), Parc Hospitalari Martí i Julià, 17190 Girona, SpainEndocrinology and Nutrition Department, Institut d’Investigació I Innovació Parc Taulí I3PT, Parc Taulí Hospital Universitari, 08208 Sabadell, SpainPhysical Medicine and Rehabilitation Department, Parc Taulí Hospital Universitari, 08208 Sabadell, SpainMRI Research Unit, Department of Radiology, Hospital del Mar, 08003 Barcelona, SpainEndocrinology and Nutrition Department, Institut d’Investigació I Innovació Parc Taulí I3PT, Parc Taulí Hospital Universitari, 08208 Sabadell, SpainSevere hypotonia during infancy is a hallmark feature of Prader Willi syndrome (PWS). Despite its transient expression, moto development is delayed and deficiencies in motor coordination are present at older ages, with no clear pathophysiological mechanism yet identified. The diverse motor coordination symptoms present in adult PWS patients could be, in part, the result of a common alteration(s) in basic motor control systems. We aimed to examine the motor system in PWS using functional MRI (fMRI) during motor challenge. Twenty-three adults with PWS and 22 matched healthy subjects participated in the study. fMRI testing involved three hand motor tasks of different complexity. Additional behavioral measurements of motor function were obtained by evaluating hand grip strength, functional mobility, and balance. Whole brain activation maps were compared between groups and correlated with behavioral measurements. Performance of the motor tasks in PWS engaged the neural elements typically involved in motor processing. While our data showed no group differences in the simplest task, increasing task demands evoked significantly weaker activation in patients in the cerebellum. Significant interaction between group and correlation pattern with measures of motor function were also observed. Our study provides novel insights into the neural substrates of motor control in PWS by demonstrating reduced cerebellar activation during movement coordination.https://www.mdpi.com/2077-0383/10/15/3320cerebellumfMRImotor systemPrader Willi syndrome |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Laura Blanco-Hinojo Laia Casamitjana Jesus Pujol Gerard Martínez-Vilavella Susanna Esteba-Castillo Olga Giménez-Palop Valentín Freijo Joan Deus Assumpta Caixàs |
spellingShingle |
Laura Blanco-Hinojo Laia Casamitjana Jesus Pujol Gerard Martínez-Vilavella Susanna Esteba-Castillo Olga Giménez-Palop Valentín Freijo Joan Deus Assumpta Caixàs Cerebellar Dysfunction in Adults with Prader Willi Syndrome Journal of Clinical Medicine cerebellum fMRI motor system Prader Willi syndrome |
author_facet |
Laura Blanco-Hinojo Laia Casamitjana Jesus Pujol Gerard Martínez-Vilavella Susanna Esteba-Castillo Olga Giménez-Palop Valentín Freijo Joan Deus Assumpta Caixàs |
author_sort |
Laura Blanco-Hinojo |
title |
Cerebellar Dysfunction in Adults with Prader Willi Syndrome |
title_short |
Cerebellar Dysfunction in Adults with Prader Willi Syndrome |
title_full |
Cerebellar Dysfunction in Adults with Prader Willi Syndrome |
title_fullStr |
Cerebellar Dysfunction in Adults with Prader Willi Syndrome |
title_full_unstemmed |
Cerebellar Dysfunction in Adults with Prader Willi Syndrome |
title_sort |
cerebellar dysfunction in adults with prader willi syndrome |
publisher |
MDPI AG |
series |
Journal of Clinical Medicine |
issn |
2077-0383 |
publishDate |
2021-07-01 |
description |
Severe hypotonia during infancy is a hallmark feature of Prader Willi syndrome (PWS). Despite its transient expression, moto development is delayed and deficiencies in motor coordination are present at older ages, with no clear pathophysiological mechanism yet identified. The diverse motor coordination symptoms present in adult PWS patients could be, in part, the result of a common alteration(s) in basic motor control systems. We aimed to examine the motor system in PWS using functional MRI (fMRI) during motor challenge. Twenty-three adults with PWS and 22 matched healthy subjects participated in the study. fMRI testing involved three hand motor tasks of different complexity. Additional behavioral measurements of motor function were obtained by evaluating hand grip strength, functional mobility, and balance. Whole brain activation maps were compared between groups and correlated with behavioral measurements. Performance of the motor tasks in PWS engaged the neural elements typically involved in motor processing. While our data showed no group differences in the simplest task, increasing task demands evoked significantly weaker activation in patients in the cerebellum. Significant interaction between group and correlation pattern with measures of motor function were also observed. Our study provides novel insights into the neural substrates of motor control in PWS by demonstrating reduced cerebellar activation during movement coordination. |
topic |
cerebellum fMRI motor system Prader Willi syndrome |
url |
https://www.mdpi.com/2077-0383/10/15/3320 |
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