Abstrakt
Objective: Friedreich's ataxia (FRDA) is an inherited autosomal recessive disorder. 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; Speech Test; Timed 25-Foot Walk Test; 9-Hole Peg Test). The aim of the study was to advance understanding of the cognitive profile in patients with FRDA.
Methods: We evaluated 7 patients aged 7 to 21 years with FRDA, which was genetically confirmed and clinically diagnosed in accordance with recent WHO, ERN-RND and expert recommendations, and 7 healthy controls matched for age and gender. The data of complete history, clinical, developmental and neurological examination, including some scales and assessments based on the EFACTS consortium's protocol (SARA - Scale for Assessment and Rating of Ataxia; ADL - Activities of Daily Living) and the results of comprehensive neuropsychological evaluation using Neuropsychological Test Battery for Children were compared via t-tests, we computed also the Pearson's correlations.
Results: Patients with FRDA performed significantly lower compared to controls in 4 of 7 tested cognitive domains - motor functions (graphomotor and motor coordination), visual spatial processing, auditory attention and attention. We did not find in children with FRDA intellectual impairment, language impairment (naming, verbal fluency or comprehension was not impaired) or alteration of social cognition (affect recognition, theory of mind).
Conclusions: Pediatric FRDA patients have only specific cognitive deficits, which are not crucial for overall functioning. Even it was a pilot study with a small number of pediatric FRDA patients, it is still one of the largest groups with comprehensive neuropsychological examination.