Turkish version of Brief Ataxia Rating Scale.

Turkish version of Brief Ataxia Rating Scale. Disabil Rehabil. 2019 Dec 12;:1-5 Authors: Acar Arslan E, Erden A, Dilber B, Esenülkü G, Şahin S, Kamaşak T, Özkan Kart P, Arslan E, Topbaş M, Cansu A Abstract Aim: Our aim was to perform the Turkish-language adaptation of a practical ataxia rating scale for children.Methods: The Brief Ataxia Rating Scale was subjected to cultural adaptation following receipt of the requisite permissions. Thirty-six children aged 4-18 years followed-up with a diagnosis of ataxia were included in the study. Evaluation of each child was recorded on video. The video recordings were scored independently by nine observers (four physiotherapists, one pediatric neurologist, and four pediatricians). Intra-rater reliability was tested by the same video images being scored twice, at 15-day intervals, by a pediatric neurologist. Intraclass correlation coefficients were used for inter-rater and intra-rater reliability. The Scale for the Assessment and Rating of Ataxia was used for concurrent validity.Results: Good to excellent reliability was determined among the nine observers in terms of total scores with the intraclass correlation coefficient among the nine observers (intraclass correlation coefficient = 0.926; 95% CI: 0.885-0.956). Intra-rater reliability analysis results exhibited strong reliability in terms of scores elicited at two-week intervals (intraclass correlation coefficient = 0.967; 95% CI: 0.890-0...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research

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AbstractObjectiveTo determine whether brain volumetric and white matter microstructural changes are present and correlate with neurological impairment in subjects with alternating hemiplegia of childhood (AHC).MethodsIn this prospective single-center study, 12 AHC subjects (mean age 22.9  years) and 24 controls were studied with 3DT1-weighted MR imaging and high angular resolution diffusion imaging at 3T. Data obtained with voxel-based morphometry and tract-based spatial statistics were correlated with motor impairment using the International Cooperative Ataxia Rating Scale (ICARS) and Movement and Disability sub-scal...
Source: Journal of Neurology - Category: Neurology Source Type: research
We present one of the largest European series to evaluate rate and clinical outcome after dorsal decompression via a uni- or bilateral approach.MethodWe investigated patients ’ characteristics, imaging/surgical parameters, and outcomes with quality-of-life (QOL) in all patients who underwent surgical treatment for TSS between 2013 and 2018 in a university neurosurgical clinic.ResultsFrom 645 patients with surgery for degenerative spondylotic myelopathy within 6  years, 28 patients (4.3%) suffered from TSS. Median age was 70.4 years with a slight predominance of the female sex (m:f = 1:1.3). Th...
Source: Acta Neurochirurgica - Category: Neurosurgery Source Type: research
AbstractGenetic brain channelopathies result from inherited or de novo mutations of genes encoding ion channel subunits within the central nervous system. Most neurological channelopathies arise in childhood with paroxysmal or episodic symptoms, likely because of a transient impairment of homeostatic mechanisms regulating membrane excitability, and the prototypical expression of this impairment is epilepsy. Migraine, episodic ataxia and alternating hemiplegia can also occur, as well as chronic phenotypes, such as spinocerebellar ataxias, intellectual disability and autism spectrum disorder. Voltage-gated and ligand-gated c...
Source: Neurological Sciences - Category: Neurology Source Type: research
We cover a lot of news and announcements about digital health technologies to provide context for you. Even within The Medical Futurist team, there are favorite technologies and trends. And we thought it would be time to share the technologies we’re excited about! With advancements in exoskeleton technology, A.I.’s ever-increasing importance in healthcare and technologies like 5G and quantum computing soon going mainstream, there’s much to be excited about! Without further ado, let’s jump in! 1. Quantum Computing: faster, cheaper and safer Late last month, Google claimed “quantum suprema...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Future of Medicine digital health Healthcare technology digital technology Source Type: blogs
Abstract The TWNK (C10orf2) gene encodes Twinkle, an essential helicase for mtDNA replication. Homozygous mutations in TWNK can lead to mitochondrial DNA depletion syndrome 7 (MTDPS7) that usually manifests as Infantile onset spinocerebellar ataxia (IOSCA). Here, we report a 15-year-old Iranian boy with three main symptoms; ataxia, sensorineural hearing loss and optic nerves atrophy which were accompanied by other symptoms including flexion contracture, dysarthric speech, nystagmus, dystonia and borderline intellectual disability. Whole exome sequencing (WES) revealed a homozygous mutation in his TWNK gene. The mu...
Source: Archives of Iranian Medicine - Category: Middle East Health Authors: Tags: Arch Iran Med Source Type: research
Publication date: Available online 26 November 2019Source: NeuroImage: ClinicalAuthor(s): Rob A Dineen, Felix Raschke, Hannah L McGlashan, Stefan Pszczolkowski, Lorna Hack, Andrew D Cooper, Manish Prasad, Gabriel Chow, William P Whitehouse, Dorothee P AuerABSTRACTBackgroundAtaxia Telangiectasia (A-T) is an inherited multisystem disorder with cerebellar neurodegeneration. The relationships between imaging metrics of cerebellar health and neurological function across childhood in A-T are unknown, but may be important for determining timing and impact of therapeutic interventions.PurposeTo test the hypothesis that abnormaliti...
Source: NeuroImage: Clinical - Category: Radiology Source Type: research
This study is aimed at establishing molecular classification and phenotypic correlation of childhood-onset ARAs in Southeast Anatolia of Turkey. Sixty-five children (aged 0 to 18) from 40 unrelated families who were analyzed through hereditary ataxia NGS panel between the years of 2015 –2018 were selected for the study. Seventeen different, clinically significant ARA-related pathogenic variants were detected in 33 of 40 families (82.5%), 12 of which were noted to be unreported variants. Among these 33 families, 24 hadATM-related (72.72%), four hadSACS-related (12.12%), three hadCOQ8A-related (9.09%), and two hadAPTX-...
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
Conclusions: Our finding along with previous studies provide more evidence of the clinical heterogeneity of diseases caused by mutations in PNKP which makes its clinical diagnosis difficult and highlights the importance of genetic testing to unravel the cause of these diseases. PMID: 31707899 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research
In this study, clinical summaries, biochemical measurements and targeted next generation sequencing (tNGS) data from the IVD gene were compared in 13 Mexican patients. The main symptoms were vomiting, feeding refusal, abdominal pain, impaired alertness, lethargy, stupor, coma; hypotonia, ataxia, hallucinations, seizures; anemia, neutropenia and pancytopenia. Mean blood concentration of isovalerylcarnintine was above the reference value (0.5 µM) in symptomatic patients, as well as in the screen positive newborns with 8.78 µM and 2.23 µM respectively. The molecular spectrum of this cohort was heterogeneous,...
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
ConclusionEven though disability seems to progress in most cases despite the treatments used, our results suggest that an early electrophysiological reduction in sensory nerves could be considered a ‘red flag’ for the prompt initiation of rituximab to try to delay long-term disability.
Source: Journal of Neurology - Category: Neurology Source Type: research
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