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Medline ® Abstract for Reference 39

of 'Ataxia-telangiectasia'

Cognitive and speech-language performance in children with ataxia telangiectasia.
Vinck A, Verhagen MM, Gerven Mv, de Groot IJ, Weemaes CM, Maassen BA, Willemsen MA
Dev Neurorehabil. 2011;14(5):315-22.
OBJECTIVE: To describe cognitive and speech-language functioning of patients with ataxia-telangiectasia (A-T) in relation to their deteriorating (oculo)motor function.
DESIGN: Observational case series.
METHODS: Cognitive functioning, language, speech and oral-motor functioning were examined in eight individuals with A-T (six boys, two girls), taking into account the confounding effects of motor functioning on test performance.
RESULTS: All patients, except the youngest one, suffered from mild-to-moderate/severe intellectual impairment. Compared to developmental age, patients showed cognitive deficits in attention, (non)verbal memory and verbal fluency. Furthermore, dysarthria and weak oral-motor performance was found. Language was one of the patients' assets.
CONCLUSION: In contrast to the severe deterioration ofmotor functioning in A-T, cognitive and language functioning appeared to level off with a typical profile of neuropsychological strengths and weaknesses. Based on our experiences with A-T, suggestions are made to determine a valid assessment of the cognitive and speech-language manifestations.
Department of Medical Psychology, Radboud University Nijmegen Medical Centre, The Netherlands. a.vinck@mps.umcn.nl