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.