Cognitive and speech-language performance in children with ataxia telangiectasia.

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 of motor 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.

Speech-language performance in Sjögren-Larsson syndrome.

OBJECTIVE: To describe speech-language pathology in patients with Sjögren-Larsson syndrome (SLS) in relation to their cognitive and motor impairment. DESIGN: Observational case series. METHODS: Cognitive functioning was assessed in 16 patients with SLS (nine males; seven females) using different neuropsychological tests. Speech-language pathology was studied focusing on dysarthria, oral motor functioning, speech intelligibility and language development. Potential correlations between speech-language pathology and other neurological symptoms (e.g. spasticity) were studied. RESULTS: The median cognitive developmental age was 5;8 (n = 13; range 3;5-8;0) years. A variable degree of mainly pseudobulbar dysarthria was found. Speech intelligibility was influenced by dysarthria, but was also related to language pathology. No correlation between motor functioning and dysarthria or cognitive development was observed. CONCLUSION: Dysarthria and language problems are important factors in daily life functioning of patients with SLS. Based upon the clinical profile found, early speech-language therapy is recommended in order to optimize their speech-language development.