scholarly journals Cerebellar Dysfunction in Adults with Prader Willi Syndrome

2021 ◽  
Vol 10 (15) ◽  
pp. 3320
Author(s):  
Laura Blanco-Hinojo ◽  
Laia Casamitjana ◽  
Jesus Pujol ◽  
Gerard Martínez-Vilavella ◽  
Susanna Esteba-Castillo ◽  
...  

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.

Author(s):  
Adriane Guillaumin ◽  
Gian Pietro Serra ◽  
François Georges ◽  
Åsa Wallén-Mackenzie

AbstractThe subthalamic nucleus is important achieve intended movements. Loss of its normal function is strongly associated with several movement disorders. Classical basal ganglia models postulate that two parallel pathways, the direct and indirect pathways, exert opposing control over movement, with the subthalamic nucleus part of the indirect pathway through which competing motor programs are prevented. The subthalamic nucleus is regulated by both inhibitory and excitatory projections but experimental evidence for its role in motor control has remained sparse. The objective here was to tease out the selective impact of the subthalamic nucleus on several motor parameters required to achieve intended movement, including locomotion, balance and motor coordination. Optogenetic excitation and inhibition using both bilateral and unilateral stimulations of the subthalamic nucleus were implemented in freely-moving mice. The results demonstrate that selective optogenetic inhibition of the subthalamic nucleus enhances locomotion while its excitation reduces locomotion. These findings lend experimental support to basal ganglia models in terms of locomotion. However, further analysis of subthalamic nucleus excitation revealed grooming and disturbed gait. Selective excitation also caused reduced motor coordination, independent of grooming, in advanced motor tasks. This study contributes experimental evidence for a regulatory role of the subthalamic nucleus in motor control.HighlightsBilateral optogenetic excitation of the subthalamic nucleus in freely-moving mice reduces forward locomotion while optogenetic inhibition leads to its increase.Unilateral optogenetic excitation and inhibition of the subthalamic nucleus cause opposite rotational behavior.Bilateral optogenetic excitation, but not inhibition, of the subthalamic nucleus induces jumping and self-grooming behavior.Engaged in advanced motor tasks, bilateral optogenetic excitation causes mice to lose motor coordination.The results provide experimental support for predictions by the basal ganglia motor model on the role of the subthalamic nucleus in locomotion, and identifies a causal role for the subthalamic nucleus in self-grooming.


2018 ◽  
Author(s):  
Janna M. Gottwald

This article critically reviews kinematic measures of prospective motor control. Prospective motor control, the ability to anticipatorily adjust movements with respect to task demands and action goals, is an important process involved in action planning. In manual object manipulation tasks, prospective motor control has been studied in various ways, mainly using motion tracking. For this matter, it is crucial to pinpoint the early part of the movement that purely reflects prospective (feed-forward) processes, but not feedback influences from the unfolding movement. One way of defining this period is to rely on a fixed time criterion; another is to base it flexibly on the inherent structure of each movement itself. Velocity—as one key characteristic of human movement—offers such a possibility and describes the structure of movements in a meaningful way. Here, I argue for the latter way of investigating prospective motor control by applying the measure of peak velocity of the first movement unit. I further discuss movement units and their significance in motor development of infants and contrast the introduced measure with other measures related to peak velocity and duration.


Author(s):  
Peter Pfordresher

Music performance involves precise motor control that is coordinated with higher order planning to convey complex structural information. In addition, music performance usually involves motor tasks that are not learned spontaneously (as in the use of the vocal apparatus), the reproduction of preestablished sequences (notated or from memory), and synchronized joint performance with one or more other musicians. Music performance also relies on a rich repertoire of musical knowledge that can be used for purposes of expressive variation and improvisation. As such, the study of music performance provides a way to explore learning, motor control, memory, and interpersonal coordination in the context of a real-world behavior. Music performance skills vary considerably in the population and reflect interactions between genetic predispositions and the effect of intensive practice. At the same time, research suggests that most individuals have the capacity to perform music through singing or learning an instrument, and in this sense music performance taps into a universal human propensity for communication and coordination with conspecifics.


2018 ◽  
Vol 5 ◽  
pp. 2329048X1878047 ◽  
Author(s):  
Christina Stark ◽  
Ibrahim Duran ◽  
Sebahattin Cirak ◽  
Stefanie Hamacher ◽  
Heike-Katharina Hoyer-Kuhn ◽  
...  

The aim of this study was to determine the effect of a new method of vibration-assisted neuromuscular rehabilitation in patients with spinal muscular atrophy types II and III. In this retrospective observational study, 38 children (mean age: 4.64 ± 1.95 years) were analyzed. The physiotherapy program, Auf die Beine, combines 6 months of home-based side-alternating whole-body vibration with interval blocks of intensive, goal-directed rehabilitation: 13 days at the start and 6 days after 3 months. Assessments were applied at the beginning (M0), after 6 months of home-based training (M6), and after 6 months of follow-up (M12). Motor abilities were assessed by the Gross Motor Function Measure 66 and Hammersmith Functional Mobility Scale. The Gross Motor Function Measure showed an increase of 1.69 (3.73) points ( P = .124) and the Hammersmith Functional Mobility Scale a significant increase of 2.73 ± 1.79 points ( P = .007) after 12 months; however, whether this leads to a long-term clinical benefit requires further investigation.


2012 ◽  
Vol 10 (3) ◽  
pp. 323-328 ◽  
Author(s):  
P. Pergami ◽  
N. Seemaladinne ◽  
P. Martone

1985 ◽  
Vol 2 (4) ◽  
pp. 283-291 ◽  
Author(s):  
Claudine Sherrill ◽  
Jean L. Pyfer

Many learning disabled students demonstrate psychological/behavioral and perceptual motor characteristics that affect physical education placement and programming. Among the characteristics exhibited by these students are hyperactivity, disorders of attention, impulsivity, poor self-concept, social imperception, delay in social play development, and deficiencies in body equilibrium, visual motor control, bilateral coordination, repetitive finger movements, and fine motor coordination. Activities found to benefit learning disabled students are jogging, relaxation, highly structured teacher-directed routines, and noncompetitive games, all of which must be carefully sequenced. Testing must be done to determine the type and extent of the learning disabled students’ problems, and activities must be selected on the basis of the results of such tests.


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