Neuropsychological assessment of patients with early onset Friedreich's ataxia – Screening or comprehensive examination?
Abstrakt
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.