0. Prader-Willi Syndrome
Prader-Willi Syndrome Association (USA)
8588 Potter Park Drive, Suite 500
Sarasota, FL
(800)
"Strengthening Awareness Through Knowledge and Communication"

1. Prader-Willi Syndrome
Increased Awareness of PWS Means…
More Diagnoses and Earlier Identification which leads to…
Early Intervention Services and Appropriate Treatment and Management Strategies which leads to…
Improved Quality of Life for Individuals Born with the Syndrome and their Families
William, 2 yrs
Aspyn, 6 mo

2. Prader-Willi Syndrome
Documented cases of PWS go back to the 17th Century
Portrait of 6 year old Dona Eugenia Martinez Vallejo (c. 1680) who displays classic characteristics of PWS. This painting is often regarded as the earliest illustration of PWS.

3. Prader-Willi Syndrome
In 1956, PWS was identified as a constellation of symptoms by Swiss physicians A. Prader, H. Willi and A. Labhart
PWS is a lifelong, life-threatening, non-inherited genetic disorder that results from a defect on Chromosome 15
PWS occurs in 1 in 12,000-15,000 births, or approximately 25,000 people in U.S. Of these, 75-80% are either undiagnosed or unknown to PWSA(USA).
In NV, there are only 39 known cases of PWS; 13 of which are in the greater Las Vegas area. There are an additional 70-75% either undiagnosed or unknown to PWSA(USA).
PWS equally affects all races and both sexes.

4. Prader-Willi Syndrome
Two major types of PWS – Deletion (70%); Uniparental Disomy (UPD) (25%); Other (5%)
PWS is now easily diagnosed with a blood test
PWS is one of the 10 most common conditions seen in genetics clinics, and is the most common genetic cause of obesity
Without intervention, PWS leads to obesity-related medical problems and eventual premature death

5. Clinical Features PWS can be thought of as a Two-stage Disorder
Stage 1 – Infancy Stage
Low birth weight and subsequent failure to thrive
Severe muscle weakness (hypotonia), excessive sleepiness
Suck/swallow problems, reflux, respiratory problems
Subtle dysmorphic facial features such as “triangle” shaped mouth, narrow forehead, almond-shaped eyes
Underdeveloped sexual organs (small labia majora in girls, small penis & undescended testes in boys)
Delayed motor/physical milestones
Sitting – months
Walking – months
Trike riding – 4 years if ever
First words – 21 months
Sentences – 3 ½ years

6. Clinical Features Stage 2 – Hunger Stage
Between ages 2-6, hyperphagia symptoms begin with a preoccupation with food and/or compulsion to eat
Voracious appetite begins as brain does not receive/process signals of feeling “full”
Slow metabolic rate causes rapid weight gain
Low energy level makes it difficult to exercise
Emotional labiality and behavioral manifestations
Sitting – months
Walking – months
Trike riding – 4 years if ever
First words – 21 months
Sentences – 3 ½ years
PWS is a spectrum disorder. All symptoms vary in degree from person to person.

7. Physiological Characteristics
Hypotonia - Weak Muscle Tone
Abnormal Growth (short stature, small hands & feet)
Problems with Strength, Balance, Coordination, Motor Planning
Hyperphagia - Dysfunctional Appetite Regulating System
Respiratory Issues
Gastrointerological Issues–Gastroparesis, Slow Bowel Motility, Inability to Vomit
Hyper- & Hypothermia - Irregularities in Body Temperature Regulating Systems
Incomplete Sexual Development
Hypopigmentation
High Pain Threshold, Bruise Easily
Disordered Sleep
Cognitive Limitations
Speech and Language Issues (Dyspraxia & Apraxia)
Dental Problems (decreased saliva production can cause severe problems)
Skin Scratching and Picking
Temperament and Behavior Issues with Older Children Through Adulthood
Social / Psychological / Psychiatric Problems
Other common characteristics may include: scoliosis, eye abnormalities (strabismus), medication sensitivity, orthopedic problems
The hypothalamus and pituitary gland regulate the production and release of hormones in the body. We can think of ourselves as being a system of hormonal function. Everything we do, think, and feel is a function of hormones. The hypothalamus and pituitary gland do not function properly in the body of someone with PWS. Therefore, symptoms such as these occur:
Abnormal growth – Insufficient HGH results in short stature, small hands & feet, narrow forehead, subtle dysmorphic facial features, decreased muscle tone resulting in decreased strength, decreased respiratory function, decreased bone density
Hyperphagia – Results from flawed part of brain (hypothalamus) that regulates hunger, satiety, and manages body’s metabolic rate. People with PWS always feel hungry and/or brain obsesses on food at the same time their body’s metabolic system is slowed. Weight gain on considerably small calories.
Cognitive limitations – IQs range from 40 to above % function in mildly mentally retarded range, independent of IQ testing. Most LD.
Speech – Low muscle tone causes dysarthria in some, but most have dyspraxic speech.
Dental – Decreased saliva production causes dry mouth, thick, sticky saliva, cavities, decayed teeth, teeth grinding, bad breath, etc. OTC dry mouth products help.
High Pain Threshold & Irregular Body Temp Reg – Blunted sensory integration systems and temp relate to defect in hypothalamus.
Skin Picking – Factor of blunted sensory system and obsessive features typical of syndrome
Incomplete sex development – Babies typically born with small genitalia; male babies undescended testes. Most do not progress thru puberty w/o sex hormone therapy (testosterone or estrogen).
Respiratory Issues – Related to lung muscle strength and CNS. Common, including sleep apnea, hypopnea, central sleep apnea. Cause excessive daytime sleepiness which can increase irritability and exacerbate behavior problems.
Temperament and behavior – Young children typically loving, happy, compliant. Subtle changes occur making child more easily frustrated, prone to mood swings, temper tantrums, stubbornness, rigidity, argumentativeness, repetitive thoughts and behaviors (OCD). Increase in rate of psychiatric problems.
Social / Psychological Problems – Difficulties with social skills acquisition may lead to social isolation. Individuals with higher level cognitive functioning more prone to depression as more aware of differences and limitations. Counseling and meds helpful to reduce depression.

8. Cognitive Characteristics
Most individuals with PWS have decreased intellectual functioning. Average IQ typically Distribution generally 5% IQ 85+; 25% Borderline MR; 35% Mild MR; 25% Moderate MR; 25% Moderate MR; 5% Severe MR.
Decreased abilities in:
Picture recognition
Mathematics
Short-term memory
Daily living skills despite IQ
Areas of Strength:
Friendliness, affectionate, desire to please, desire to nurture
Long-term memory
Recognize and evaluate shapes and figures
Integrate stimuli in spatial relationship
Puzzle solving

9. Treatment & Management Strategies
There is no known cure for PWS. But there are various medications, treatments and therapies that can help manage, reduce or even eliminate some of the symptoms.
Treatment consists of a multidisciplinary treatment approach. A typical family will see a multitude of professionals including:
Geneticist
Endocrinologist
Pulmonologist
Feeding Specialist
Ophthalmologist
Dentist
RC Case Workers
Behaviorist, Psychologist, Psychiatrist
Neurologist
Urologist (boys)
Gastroenterologist
Nutritionist
Orthopedist
Attorney
PT, OT, ST, Social Skills Therapists
Residential Staff
Early Dx – DNA Methylation testing is now widely used to identify all possible genetic defects on chromosome 15 that are believed to cause the syndrome. Early dx gives parents the opportunity to begin appropriate interventions and therapies as early as possible including proper nutritional intake to avoid obesity from the start, growth hormone tx, occupational, physical, speech, social skills, sensory integration therapy, and sex hormone therapy, and establish good, consistent parenting routines.
GH Therapy- Probably the single most important advancement in the tx of PWS in the last 50 years, synthetic HGH is recognized worldwide by the leading PWS researchers as tx protocol for PWS. Improves linear growth in children, increased muscle development, decreased body fat, improved body composition, increased bone mineral density, improved physical performance, improved respiratory function, and newer studies suggest improvements in cognitive function.
Weight Control & Exercise – The hallmark symptom of PWS is hyperphagia. No medication helpful with this symptom – yet. Important to provide necessary nutrients while restricting calories. Access to food must be limited. Exercise programs made fun must begin early. Weight management vital. Locks on cupboards and frig necessary often.
Behavior Management – Behavior management crucial for both weight and behavior problems. Behavior Mod should be prevention oriented. Provide daily routines, structure, firm limits, anticipate problems, avoid arguments. Address underlying anxiety issues which contribute to behavior problems. Provide medications for psychiatric issues if appropriate, esp. SSRIs.
Special Education – Most individuals will require special education services. Federal law provides for these services to include special instruction, speech therapy, OT, PT, psychological testing, counseling, and social skills therapy.

10. Treatment & Management Strategies
Early Diagnosis – Genetic Testing
Growth Hormone Therapy - FDA approved for use in children with PWS. Ongoing studies support FDA approval for use in infants and adults, with many of the following improvements seen:
Increased height and growth rate
Increased hand & foot size to normal proportions; more “normalized” facial characteristics
Decrease in body fat and body mass index (BMI)
Increase in muscle development
Improved respiratory function
Improved physical performance
Increase in resting energy expenditure
Improved cholesterol levels
Increase in bone mineral density
Improved cognitive functioning
Increased self-esteem
Early Dx – DNA Methylation testing is now widely used to identify all possible genetic defects on chromosome 15 that are believed to cause the syndrome. Early dx gives parents the opportunity to begin appropriate interventions and therapies as early as possible including proper nutritional intake to avoid obesity from the start, growth hormone tx, occupational, physical, speech, social skills, sensory integration therapy, and sex hormone therapy, and establish good, consistent parenting routines.
GH Therapy- Probably the single most important advancement in the tx of PWS in the last 50 years, synthetic HGH is recognized worldwide by the leading PWS researchers as tx protocol for PWS. Improves linear growth in children, increased muscle development, decreased body fat, improved body composition, increased bone mineral density, improved physical performance, improved respiratory function, and newer studies suggest improvements in cognitive function.
Weight Control & Exercise – The hallmark symptom of PWS is hyperphagia. No medication helpful with this symptom – yet. Important to provide necessary nutrients while restricting calories. Access to food must be limited. Exercise programs made fun must begin early. Weight management vital. Locks on cupboards and frig necessary often.
Behavior Management – Behavior management crucial for both weight and behavior problems. Behavior Mod should be prevention oriented. Provide daily routines, structure, firm limits, anticipate problems, avoid arguments. Address underlying anxiety issues which contribute to behavior problems. Provide medications for psychiatric issues if appropriate, esp. SSRIs.
Special Education – Most individuals will require special education services. Federal law provides for these services to include special instruction, speech therapy, OT, PT, psychological testing, counseling, and social skills therapy.

11. Treatment & Management Strategies
Ongoing family education on the syndrome, along with treatment and management strategies via national PWSA (USA) and PWS NV S.H.A.R.E.
Physical, Occupational, Sensory Integration Therapy, Oral Motor/Speech & Language Therapy, Social Skills Therapy
Marriage and Family Therapy to help family members manage high and chronic levels of stress, chronic grief, sibling issues, extended family support (or lack thereof)
Oral Hygiene products designed to relieve dry mouth symptoms
Weight Management Strategies, including restricted calorie diet, 24/7 environmental controls
Exercise regimen

12. Treatment & Management Strategies
Behavior Management vs. Behavior Modification Strategies
Collaborative Problem Solving Approach as outlined in The Explosive Child, Ross Greene, Ph.D.
“No Hope for Food” principles
Positive, supportive, routinized, calm environment
Praise! Praise! Praise!
Special Education
Estate Planning, Special Needs Trust & Will, Conservatorship
Sex Hormone Replacement Therapy in Adolescence
Meaningful Work and Hobbies
Residential Living Arrangements
Family, Group Home, Supported Living

13. Outlook today is more hopeful than ever before
Normal life expectancy with weight management and 24/7 environmental control of food
Media attention increases the public and medical community’s awareness of the syndrome
National obesity epidemic has influenced research to better understand the body’s appetite regulating systems. We hope this will lead to the development of medications that will treat PWS-specific hyperphagia, as well as benefit general public.

14. Early Diagnosis
Appropriate Early Intervention Therapies & Management Strategies
Improves the quality of life for our children and their families
Aspyn,
14 mo
William, 3 yrs
Aspyn,
17 mo