1. The Disability with a Dual Nature: Prader-Willi Syndrome in EI and ECSE
By Brittney Anne Fitts

2. What is Prader-Willi Syndrome?
A spontaneous, congenital, genetic disorder.
Occurs equally across genders and races.
Range of estimated prevalence: 1:8,000 to 1:25,000.
There is no cure.
Prader-Willi Syndrome Association of USA states most likely prevalence: 1:15,000 (PWSA, 2012).
One of the ten most common syndromes seen in genetic clinics (Utah Prader-Willi Association, n.d.).

3. What Causes Prader-Willi?
Any one of three different chromosome errors on chromosome 15 results in Prader-Willi Syndrome (PWSA, 2012).
These genes are responsible for normal brain development and the function of the hypothalamus (Mann & Butler, 2009).

4. Physical Characteristics
Low muscle tone.
Distinctive facial features.
Delayed or incomplete development of gonads or sexual characteristics.
Short for genetic background.
Paler or more fair than genetic background.
Small, narrow hands.
Small feet for height and age.
Eye abnormalities.
Thick viscous saliva (this can later lead to tooth problems).
Obesity, including morbid obesity, and all related health problems. (PWSA, 2012)

5. The Duel Nature

6. Stage 1: “Failure to Thrive”
Prior to being born: decreased fetal movement.
Typically birth – two years old.
Low birth weight for gestation.
Very weak crying
Infant sleeps more than typical and does not move very much. (PWSA, 2012)
Severe hypotonia (“floppiness”).
Feeding difficulties due to poor sucking reflex.
May require tube feeding and supplemental oxygen.
Mild to moderate global developmental delay, with motor delay being especially notable.
Sometimes misdiagnosed as Down’s Syndrome, Turner’s Syndrome, or as a neurologic condition (Mann & Butler, 2009)

7. Stage 2: “Thriving Too Well”
Rapid growth and weight gain beginning typically at 1-2 years old.
Hyperphagia = never feeling full or always hungry due to hypothalamus dysfunction.
This lasts for the rest of their lives.
There have been individuals who have ruptured their stomachs due to high pain tolerance and hyperphagia (Utah Prader-Willi Association, n.d.).
Commonly results in food stealing, hoarding, eating out of trash cans, eating pet food, etc... (Mann & Butler, 2009)
Combined with low muscle tone, tendency for inactivity, and short stature is the “the most common known genetic cause of life-threatening obesity in children” (PWSA, 2012).

8. Development Cognitive Emotional Physical Social/Language
Difficulty managing emotions due to hypothalamus and pituitary deficits.
High levels of anxiety.
Rigid thoughts and inflexible behavior.
Compulsive or repetitive behavior
Skin picking.
Emotional outbursts/ temper tantrums increase with child’s age.
IQ can range from with an average of 70.
Learning disabilities present in individuals no matter IQ.
Difficulties with attention, abstract thinking, and short term auditory memory.
Slow processing.
Physical
Strength, coordination, and balance affected
Growth hormone may be needed.
Respiratory problems (PWSA, 2012)
Motor delays, including delayed sitting and walking (Mann & Butler, 2009)
Social/Language
Delayed speech.
Articulation.
Pragmatic Language skills. (PWSA, 2012)

9. Impact on Home and Community Life
Many different services needed including: nutrition, physical therapy, endocrinology, orthopedics, dentistry, gastroenterology, psychiatry, speech therapy, etc…
Strict diet with calorie counting and regular weigh ins.
Individuals and their families do best with restricting access to food, sticking to a regular routine, and keeping the child occupied and engaged in activities, particularly active activities (Allen, 2011).
Many adolescents and adults have been more successful living in group homes or other supported living situations, particularly those that specialize working with individuals that have Prader-Willi Syndrome. (PWSA, 2012)

10. Enough of the Negative
Infants and young children with Prader-Willi syndrome are considered happy, loving, and often do not exhibit as many of the behavior management issues yet.
Long term memory, reading ability, and receptive language skills are strengths.
Strong visual-perceptional ability as demonstrated by doing jigsaw puzzles is often reported as well.
If weight is under control normal life expectancy and general overall good health can be expected. (PWSA, 2012).

11. Resources
Fundraising walk to raise money for Prader-Willi research. The first link is based in Williamsburg, VA and the second in Richmond, VA. Prader-Willi Syndrome Association (USA)’s website. Includes a wealth of information and support for families and educators. Contact information for the MD, VA, and DC chapters of PWSAUSA. The link to the Foundation to Prader-Willi Research. They have an specific and upto date package of information and resources for parents whose child has been diagnosed with Prader-Willi Syndrome. Information and links on how to get connected with the Yahoo support group and online community for caregivers of children ages birth to five who have been diagnosed with Prader-Willi Syndrome.

12. References
Allen, K. (2011). Managing Prader-Willi syndrome in families: An embodied exploration. Social Science & Medicine, 72(4), Retrieved from
Mann, N. P., & Butler, G. E. (2009). Prader-Willi syndrome: Clinical features and management. Paediatrics and Child Health, 19(10), Retrieved from
PWSA (USA). (2012, November 12). Prader-Willi syndrome association usa: Still hungry for a cure. Retrieved from
Utah Prader-Willi Association. (n.d.). Overview: What is Prader-Willi syndrome. Retrieved from