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Prescilla D John, Erica F Weiss, Diana Bronshteyn, David M Masur, John J McGinley, Ronda F Facchini, A-81 Neuropsychological Profile of Child with Spinocerebellar Ataxia, Type 29, Archives of Clinical Neuropsychology, Volume 36, Issue 6, September 2021, Page 1126, https://doi.org/10.1093/arclin/acab062.99
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Abstract
Spinocerebellar ataxia 29 (SCA29) is a rare autosomal dominant disorder resulting in infantile-onset hypertonia, gross motor delay and cognitive impairment. SCA29 causes cerebellar dysfunction and atrophy manifested by poor hand coordination, instability of gait, impaired articulation, poor hand-eye coordination, language delay, and a wide legged, unsteady walk. Slow improvement across childhood is common, but the limited available research suggests significant clinical heterogeneity among individuals diagnosed with SCA29. We report the case of a six-year-old first grade girl to highlight the cognitive profile of SCA29 and determine its consistency with the literature.
Full neuropsychological evaluation was conducted, including examination of overall cognitive ability, academic achievement, and behavior.
The patient demonstrated delayed cognitive and motor skills, slow processing, reduced reading fluency, and weak reading comprehension. Impaired verbal comprehension and limited fund of knowledge was seen. Working memory and visual spatial ability were relative individual strengths, though normatively weak. Untimed and non-motor academic skills were well below peers. Performances met criteria for ADHD and Language Disorder.
Six-year-old girl with SCA29 with expected motor difficulties including gross motor delay, hypotonia, ataxia, poor ocular fixation evidenced global impairments with expected weakness with verbal comprehension and receptive language skills. This is consistent with the findings in the SCA29 literature. Comorbid diagnoses of ADHD and Language Disorder were present. Given clinical heterogeneity, this case serves to expand existing knowledge on case variability, and adds the consideration of wider comorbidities in this rare condition.
