Children born with Prader-Willi Syndrome tend to be more susceptible to developmental disorders that require diagnosis and management by a speech pathologist. This can range from delayed speech or language skills through to difficulties with swallowing and feeding.
“Speech Language Pathology Chief of Service, Sara S. Plager, has collaborated with Jennifer Miller, MD (College of Medicine) pediatric endocrinologist who specializes in children with PWS, for approximately the past 15 years. PWS is a complex genetic disorder involving chromosome 15. Children with PWS initially present with global hypotonia, which affects their ability to eat. Many of these children require G-tubes due to their inability to feed. Ms. Plager has been involved in assessing their ability to safely feed (and finally remove their G-tubes) and when older, assesses their speech and language skills.”
However recently the research has come across an association between Developmental Apraxia and children born with Pradder-Willi Syndrome. This association is currently being further investigated in the study run by Dr Miller and Ms Plague.
“Through their collaboration, they have investigated and determined that there are specific speech and language deficits in this population of children. Ms. Plager has evaluated 30 children with a confirmed diagnosis of PWS for a study completed with Dr. Miller (though total number of children evaluated with a diagnosis of PWS far exceeds 30 over the years).”
The results indicate a significantly higher occurrence of receptive and expressive language delay, specifically presentations of developmental apraxia compared to a normally developing population of children.
“Receptive and expressive language delays were diagnosed in many of the children, as was a significant number (47%) of these same children with PWS having been diagnosed by Ms. Plager with DAS. This is a much higher prevalence than the number of children diagnosed with DAS than in the non-PWS population. Tactile cueing, a therapy approach, has been found to be quite effective by Ms. Plager for the children with PWS who have DAS.”
Clinical trials of treatments for Developmental apraxia of speech are currently not prevalent enough and still requires further development and any breakthrough in research is highly valuable for practical application.
