Speech and language issues in children with Prader-Willi syndrome

Abstract

Background: Prader-Willi syndrome (PWS) is a genetic disorder caused by the lack of the paternal contribution of Chromosome 15q11.2-q13.2 region. It is associated with global developmental delays, including speech and language delay. There is no information regarding the prevalence of apraxia of speech in this syndrome, despite the fact that it is often recognized clinically. In this study, we sought to investigate the prevalence of apraxia in children with PWS and speech and language delay. Methods: Thirty children with genetically confirmed PWS, ages 22 months to 9 years of age, were evaluated by a certified speech-language pathologist due to physician concerns about speech and language development. Children were assessed by a variety of tests based on their age. Results: Sixteen children had receptive language deficits and 18 had expressive language deficits. Fourteen of the thirty children (47%) had results on evaluation that were consistent with apraxia, of which 57% were male, and 71% (p < 0.001) had deletion-type PWS. Conclusion: As expected, children with PWS who are referred for concerns about speech and language development are commonly found to have receptive and expressive language deficits. However, there was a high prevalence of apraxia in our patients, which has not previously been reported in this population. We recommend that children with PWS be evaluated for apraxia by a speech-language pathologist once their expressive language skills are developed enough for speech assessment. The diagnosis of apraxia will necessitate specific speech therapy techniques which may not otherwise be used for individuals with this syndrome, thus resulting in more severe and prolonged speech delays.