Dysarthria in children and adults with ataxia telangiectasia

AIM: To investigate the characteristics and severity of dysarthria in children and adults with ataxia telangiectasia. METHOD: All children and adults with ataxia telangiectasia who visited our multidisciplinary outpatient clinic for ataxia telangiectasia were asked to participate in this study, which took place in March 2019. To evaluate dysarthria, we used the Radboud Dysarthria Assessment in adults (older than 18y) and the paediatric Radboud Dysarthria Assessment in children (5–18y), including the observational tasks ‘conversation’ and ‘reading’, and the speech‐related maximum performance tasks ‘repetition rate’, ‘phonation time’, ‘fundamental frequency range’, and ‘phonation volume’. Speech intelligibility was measured using the Intelligibility in Context Scale. RESULTS: Twenty‐two individuals (15 children [5–17y], seven adults [19–47y]; 14 males and eight females; mean age 19y, SD 15y 2mo) participated. Dysarthria was present in all participants and characterized by ataxic components in adults and similar uncontrolled movements in children. In most participants, speech was mildly to mildly/severely affected. Almost all participants had an abnormal score for at least one maximum performance task. INTERPRETATION: Dysarthria in ataxia telangiectasia is characterized by uncontrolled, ataxic, and involuntary movements, resulting in monotonous, unstable, slow, hypernasal, and chanted speech. WHAT THIS PAPER ADDS: Dysarthria in ataxia telangiectasia is characterized by uncontrolled, ataxic, and involuntary movements. Dysarthria in ataxia telangiectasia results in monotonous, unstable, slow, hypernasal, and chanted speech. Dysarthria in ataxia telangiectasia can be assessed using the Radboud Dysarthria Assessment and the paediatric Radboud Dysarthria Assessment.