A-093 Neuropsychological Functioning in an 8-year-old female with Friedreich’s Ataxia

Abstract

Abstract Objective An 8-year old female in the 3rd grade was referred for an evaluation due to concerns surrounding attention, academics, and motor skills in the context of Friedreich’s Ataxia (FA). FA is the most common genetically inherited ataxia (Delatycki et al., 2000). Neurocognitively, deficits in processing and motor speed, visuospatial reasoning, and executive function have been documented in FA (Nieto et al., 2012; Mantovan et al., 2006; Schmahmann et al., 1998). This case study expands on the limited literature on the neuropsychological profile of children with FA. Methods Patient was diagnosed with FA in 2014 following genetic testing significant for over 1,000 repeats of the Frataxin gene. She has experienced a steady decline in her gross-, fine-, and oral-motor skills. Patient requires a personal aide at school to ensure safety ambulating and manage her attention and learning challenges. Results Intellectual ability was estimated as average (WISC-V: GAI = 92). She exhibited significant deficits in reading, writing, and mathematics, clustering around an early 1st grade level (WIAT-III). She presented with attention and executive function impairments (CPT-3, TEA-Ch, NEPSY-II). Motor coordination difficulties were characteristic of FA (WRAVMA, Finger Tapper). Conclusion Patient demonstrated deficits in motor coordination, processing speed, attention, and executive function typical of FA, given its cerebellar pathology and impacted corticocerebellar pathways. The etiology of her learning challenges is unknown, as these domains are not typically impacted in FA. Future investigation of the relationship between FA and other neurocognitive domains is warranted.