Running For Research - PWSIndividuals with PWS present with speech and language deficits. 88% of Global PWS Registry participants had participated in speech therapy.
The speech and language skills of individuals with Prader-Willi syndrome are reported to be below expectations based on intellectual levels. Although great variability exists in the speech and language skills of individuals with Prader-Willi syndrome, several common features have been noted. These include poor speech-sound development, reduced oral motor skills, and language deficits. Speech is often characterized by imprecise articulation, hypernasality, flat intonation patterns, an abnormal pitch, and a harsh voice quality. Prosody, or the melody of speech, may also be disrupted.
Clementine has been participating in speech therapy since shortly after birth. In infancy she received speech therapy for feeding issues. These issues included learning how to properly develop a strong sucking ability and how to eat food from a spoon. Most people would assume that these skills would be automatically developed, and in most children they are. But because of her hypotonia ( low muscle tone), performing these small tasks was a struggle.
As a baby, Clementine made cooing noises and other sounds typical of that stage of development. But they were less frequent than my other children and were much softer in volume and tone. Clem was a very quiet infant and although she cried at times, she was much less likely to do so than her siblings were at the same age. She didn’t always alert me when something was wrong ( like when she needed a diaper change ) so I was constantly checking on her to make sure everything was ok.
When Clem was a toddler, she began to express herself a bit more through noises and gestures. She didn’t have much ability to communicate through words. Speech therapy at this stage focused on improving her oral strength, proper tongue placement and continued feeding skills. Clem needed help to be able to feed herself with a utensil and to learn how to drink from a cup. She eventually learned to master these skills and now she is completely self sufficient in this area. In fact, compared to her older siblings, she might be the neatest and most precise eater in the group!
Clementine didn’t start to speak until she was a bit over 2 years old. I remember how much I longed for her to speak to me. I would imagine what her speech would sound like and how much more I would be able to learn about her once she could communicate in this way. I was uncertain when speech would develop. The age at which speech begins varies greatly with PWS individuals and some, usually in combination with other diagnoses, remain non verbal. I was terrified that Clem would fall into this category. At the time, I couldn’t imagine anything worse than that.
As Clem began to speak, we moved into a more intensive level of speech therapy. We had up to 3 speech therapy visits per week and they were very tiring and exacting for her. It surprised me to learn that speech therapy can be more arduous than any other type of therapy for kids and that most children can only tolerate a 30 minute session at a time. This was definitely the case for Clem. She would be physically and mentally exhausted after every session and would need to go home and take a nap.
As the years went by, Clem’s speech began to really take off. The growth of her vocabulary was amazing to watch. Clem has always had the ability to incorporate new words into her speech in exactly the right context. It is a skill that has been noticed by almost every doctor, therapist and teacher that has encountered her. Clem expresses herself quite well and I no longer worry about communication barriers. In fact, she is quite a chatterbox. So much so that her siblings will sometimes try and hide from her to avoid having to have a long and protracted conversation about whatever topic has caught her fancy!
But while she is very talkative around family, her articulation is still an issue that needs improvement. Certain sounds remain difficult and she still speaks in a soft tone that can be hard to hear ( unless she is displeased, in which case volume is definitely NOT an issue). It’s often necessary to listen very closely to fully understand what she is saying. This makes it hard for other kids to have a conversation with her and most don’t have the patience to stick it out. Clem also has an uneven flow to her speech, a condition called prosody. Without the proper cadence, speech can be difficult to understand. Both of these issues are things we continue to work on with our speech therapist.
Clem will likely need speech therapy indefinitely. As her mom, I can’t think of anything more important to her ongoing happiness and quality of life than the ability to communicate effectively with others. She must be able to express through speech what she is feeling, both physically and mentally, in order to be able to advocate for herself and to really connect with the world.. As with most aspects of her life, Clem faces ongoing challenges in this area but I know she will continue to meet these challenges and she will succeed!
