Children with dystonia are characterized by highly variable and seemingly uncontrolled movements. An important question for any rehabilitative effort is whether these children can learn and improve their performance. This study compared children with dystonia due to cerebral palsy, typically developing children, and healthy adults in their ability to acquire a novel sensorimotor skill. Using a virtual setup, subjects threw a virtual ball tethered to a post to hit a virtual target. Multiple combinations of release angle and velocity of the arm at ball release could achieve a target hit-the task was redundant and afforded solutions with different sensitivity to variability. Subjects performed 200 trials for two target locations that presented different types of redundancy. We hypothesized that children with dystonia develop strategies that are tolerant to their high variability. Estimating this variability highlighted the insufficiency of traditional outcome measures. Therefore, additional analyses of data distributions and of ball release timing were applied. Results showed that: 1) children with dystonia reduced their performance error despite their high variability; 2) this improvement was brought about by finding error-tolerant solutions; and 3) they generated arm trajectories that created time windows for ball release that were tolerant to timing variability. While reduced in magnitude, the performance improvements in children with dystonia paralleled those in healthy children and adults. These findings demonstrate that children with dystonia are able to adapt their behavior to their high variability, an important basis for any rehabilitative intervention.
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http://dx.doi.org/10.1109/TNSRE.2016.2521404 | DOI Listing |
BMC Med
January 2025
Physiological Institute, University of Regensburg, University Street 31, 93053, Regensburg, Germany.
Background: Dystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), a phospholipid scramblase and ion channel. We previously reported patients that were heterozygous for the ANO3 variants S651N, V561L, A599D and S651N, which cause dystonia by unknown mechanisms.
Methods: We applied electrophysiology, Ca measurements and cell biological methods to analyze the molecular mechanisms that lead to aberrant intracellular Ca signals and defective activation of K channels in patients heterozygous for the ANO3 variants.
Neuromodulation
January 2025
Department of Psychiatry and Behavioral Sciences, Division of Child and Adolescent Psychiatry, Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
Objectives: Biphasic sinusoidal repetitive transcranial magnetic stimulation (rTMS) is a noninvasive brain stimulation treatment that has been approved by the US Food and Drug Administration for treatment-resistant depression (TRD). Recent advances suggest that standard rTMS may be improved by altering the pulse shape; however, there is a paucity of research investigating pulse shape, owing primarily to the technologic limitations of currently available devices. This pilot study examined the feasibility, tolerability, and preliminary efficacy of biphasic and monophasic rectangular rTMS for TRD.
View Article and Find Full Text PDFBiomedicines
November 2024
Neurogenetics Unit, Hospital JM Ramos Mejía, Buenos Aires C1221ADC, Argentina.
Rare movement disorders often have a genetic etiology. New technological advances have increased the odds of achieving genetic diagnoses: next-generation sequencing (NGS) (whole-exome sequencing-WES; whole-genome sequencing-WGS) and long-read sequencing (LRS). In 2017, we launched a WES program for patients with rare movement disorders of suspected genetic etiology.
View Article and Find Full Text PDFStereotact Funct Neurosurg
January 2025
Objective: There has been rapid advancement in the development of deep brain stimulation (DBS) as a treatment option for adults for neurological and neuropsychiatric conditions. Here, we present a scoping review of completed and ongoing clinical trials focused on DBS in pediatric populations, highlighting key knowledge gaps.
Methods: Three databases (PubMed, OVID, and Embase) and the clinicaltrials.
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