038 Cerebellar cognitive affective syndrome in ataxia-telangiectasia patients

BackgroundCognitive function in Ataxia telangiectasia (AT) has been reported in few studies. The cer- ebellum is increasingly recognised as a pivotal structure in cognition and Cerebellar Cognitive Affective Syndrome (CCAS) has been observed in AT. Here, we report on cognitive studies in adult AT patients.MethodsWe performed cognitive assessments on an adult AT cohort and healthy volunteers. We assessed patients using the CCAS Scale, Mini Linguistic State Examination (MLSE) and the Test Your Memory (TYM) assessment. A nominated carer completed the Cambridge Behavioural Inventory Revised (CBI-R). AT patients were also assessed for severity of neurological symptoms using Scale for Assessment and Rating of Ataxia (SARA) and Inventory of Non-Ataxia Signs (INAS).ResultsOur interim analysis confirms Cerebellar Cognitive Affective Syndrome in the adult AT cohort. AT patients showed deficits primarily in tasks relying on executive function: semantic and phonemic fluency, category switching, digit span and affect. There were language deficits in motor speech and phonologi- cal errors greater than syntax or semantic errors.ConclusionsOur large-scale cross-sectional study demonstrates the presence of cognitive dysfunction in AT affecting executive function, motor language function, and affect. We advocate routine cognitive assessment in AT patients as part of their clinical care.