Results 101 to 110 of about 1,060,824 (268)

Movement Disorders in Developmental and Epileptic Encephalopathies

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad   +2 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño   +6 more
wiley   +1 more source

Apathy in Parkinson's Disease: Distinguishing Overlapping Symptoms Via Network Analysis

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Anxiety, fatigue, and excessive daytime sleepiness (EDS) frequently co‐occur in Parkinson's disease (PD) and can influence the clinical determination of apathy. Objective To distinguish patient‐reported apathy from other non‐motor symptoms.
Joseph Seemiller   +6 more
wiley   +1 more source

PSYCHOMOTOR THERAPY AS A EFFECTIVE METHOD OF ALLEVIATING THE SYMPTOMS OF CHILD’S NON-HARMONIOUS DEVELOPMENT

open access: yesPedagogics, Psychology, Medical-Biological Problems of Physical Training and Sports, 2015
Purpose: assess the influence of a therapy conducted according to the Belgian School on the psychomotor development of children suffering from developmental dissonance. Material and methods: the studies involved 32 six yrs.
Jolanta Gnitecka   +2 more
doaj  

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider   +3 more
wiley   +1 more source

Continuous Intrajejunal Levodopa–Carbidopa Infusion in Parkinson's Disease Associated with 22q11.2 Deletion Syndrome: A Case Series

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background 22q11.2 deletion syndrome (22q11DS) is a multisystem genetic disorder associated with a significantly increased risk of early‐onset Parkinson's disease (EOPD). Management is challenging because psychiatric and cognitive comorbidities often limit advanced therapies such as deep brain stimulation (DBS). Cases We report 2 patients with
Valle Victor Andrés   +10 more
wiley   +1 more source

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study

open access: yesMovement Disorders, EarlyView.
Abstract Background Although not confirmed, some studies have suggested that elevated homocysteine levels are common in patients with Huntington's disease (HD). Its clinical relevance remains unclear. Objectives We aimed to assess vitamin B and homocysteine levels in HD patients and explore the relationships among hyperhomocysteinemia, vitamin B ...
Salomé Puisieux   +16 more
wiley   +1 more source

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

open access: yesMovement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino   +23 more
wiley   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

open access: yesOtolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

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