Neuropsychological assessment of patients with early onset Friedreich's ataxia - Screening or comprehensive examination?
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F21%3A10445998" target="_blank" >RIV/00216208:11130/21:10445998 - isvavai.cz</a>
Výsledek na webu
<a href="https://www.epns.info/epns-virtual-research-meeting-2021/" target="_blank" >https://www.epns.info/epns-virtual-research-meeting-2021/</a>
DOI - Digital Object Identifier
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Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Neuropsychological assessment of patients with early onset Friedreich's ataxia - Screening or comprehensive examination?
Popis výsledku v původním jazyce
Friedreich's ataxia is an inherited autosomal recessive disorder and is confirmed by gene examination to confirm GAA triplets expansions on both alleles. The disease usually manifests in adolescence with gait problems and poor movement coordination. Other symptoms include scoliosis, cardiomyopathy, impaired speech, diabetes mellitus, etc. The disease can sometimes be associated with cognitive affective cerebellar syndrome. A progression is measured by using tests (Scale for Assessment and Rating of Ataxia; Inventory of Non-Ataxia Signs; PATA Speech Test; Timed 25-Foot Walk Test; 9-Hole Peg Test). We have prepared a Czech version of neuropsychological screening of patients with early onset Friedreich's ataxia. We evaluated 6 patients aged 7 to 21 years, using both a screening protocol and a comprehensive neuropsychological battery for children, and compared the results. All our patients received the score "required further examination" in the screening protocol. Comprehensive testing proved the indicated shortcomings and thanks to the assessment of multiple cognitive domains, including social knowledge, we also detected other disabilities. Extensive neuropsychological examination is required to identify the strengths and weaknesses of patients' cognitive profile. This is a convenient way to provide information that can be used when working to compensate for the consequences of a disease.
Název v anglickém jazyce
Neuropsychological assessment of patients with early onset Friedreich's ataxia - Screening or comprehensive examination?
Popis výsledku anglicky
Friedreich's ataxia is an inherited autosomal recessive disorder and is confirmed by gene examination to confirm GAA triplets expansions on both alleles. The disease usually manifests in adolescence with gait problems and poor movement coordination. Other symptoms include scoliosis, cardiomyopathy, impaired speech, diabetes mellitus, etc. The disease can sometimes be associated with cognitive affective cerebellar syndrome. A progression is measured by using tests (Scale for Assessment and Rating of Ataxia; Inventory of Non-Ataxia Signs; PATA Speech Test; Timed 25-Foot Walk Test; 9-Hole Peg Test). We have prepared a Czech version of neuropsychological screening of patients with early onset Friedreich's ataxia. We evaluated 6 patients aged 7 to 21 years, using both a screening protocol and a comprehensive neuropsychological battery for children, and compared the results. All our patients received the score "required further examination" in the screening protocol. Comprehensive testing proved the indicated shortcomings and thanks to the assessment of multiple cognitive domains, including social knowledge, we also detected other disabilities. Extensive neuropsychological examination is required to identify the strengths and weaknesses of patients' cognitive profile. This is a convenient way to provide information that can be used when working to compensate for the consequences of a disease.
Klasifikace
Druh
O - Ostatní výsledky
CEP obor
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OECD FORD obor
30103 - Neurosciences (including psychophysiology)
Návaznosti výsledku
Projekt
<a href="/cs/project/TL03000328" target="_blank" >TL03000328: NA-C: Vývoj a standardizace neuropsychologické baterie pro sledování procesu učení, efektu léčby a kognitivní rehabilitace u dětské populace, včetně dětí s neurovývojovým či onkologickým onemocněním.</a><br>
Návaznosti
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Ostatní
Rok uplatnění
2021
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů