What is Prader-Willi syndrome?
Prader-Willi Syndrome (PWS) is a complex lifelong medical condition that affects about 1 in 15,000 people across all races and both genders. Prader-Willi Syndrome is a genetic disorder and an abnormality of chromosome 15 is seen in the majority of patients and can be genetically tested for. Individuals with Prader-Willi Syndrome present with a varying of symptoms with the most common including poor muscle tone and balance, learning difficulties, obsession with eating, abnormal/absent sexual development and emotional instability.
Prader-Willi is characterised by a number of features including:
- Excessive sleepiness or sleep apnoea
- Lack of gag reflex
- Reduced height
- Small hands and feet
- Myopia (short sightedness)
- Skin picking
- Scoliosis (curvature of the spine) or Kyphosis
- Speech, Feeding and social skills difficulties
- Delayed puberty with frequent absence or irregularity of Periods in females
- Memory difficulties
- Behavioural difficulties
There are two distinct clinical stages to the syndrome during which they present with the following speech related symptoms:
STAGE 1 (Birth to 2-4years of age)
The low muscle tone means that it will take longer than normal to reach developmental milestones. This includes a delay in:
- Feeding development
- Speech sound development
- Word Production (1st word produced at approx 21 months)
- Sentence Production (1st sentence produced at approx 3.6 years)
STAGE TWO (from 2 years of age)
A range of learning disabilities become more apparent and rigid behaviour and tantrums begin to arise at this stage. The following deficits are commonly seen:
- Poor social and emotional skills
- Specific weaknesses in maths and writing however strengths in reading and art skills are often present.
- Weak short-term auditory memory with strong long term memory
You can read more about Prader-Willi Syndrome at: Prader-Willi Syndrome Association of Australia
If you have questions about speech pathology contact your local doctor, who will arrange for you to see a speech pathologist. We‘ll provide you with a straightforward, efficient and very effective treatment plan targeted to your concerns. Contact Us Today!