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PRADER WILLI SYNDROME

Published on Mar 16, 2016

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PRESENTATION OUTLINE

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PRADER WILLI SYNDROME

AALIYA PATHAN 
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This is what its like

for someone with PWS
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Prader-Willi Syndrome (PWS) is a genetic disorder that occurs in approximately one out of every 15,000 births.

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PWS is recognized as a common genetic cause of childhood obesity.

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PWS was first discovered in 1956 by Swiss doctors Andrea Prader, Heinrich Willi and their intern based on the clinical characteristics of nine children they had examined

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WHAT CAUSES PWS?

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PWS is caused by a lack of active genetic material in a particular region of chromosome 15 (15q11-q13). Normally, individuals inherit one copy of chromosome 15 from their mother and one from their father. The genes in the PWS region are normally only active on the chromosome that came from a person’s father. In PWS, the genetic defect is caused by the inactivity of chromosome 15

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DIAGNOSIS

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Doctors typically base their diagnoses off of signs and symptoms.
Blood tests are typically taken for definitive diagnosis.
The blood test looks for abnormalities in the individuals chromosomes that indicate PWS.

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SYMPTOMS

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The symptoms of Prader-Willi syndrome are believed to be caused by the dysfunction of a portion of the brain called the hypothalamus.

The hypothalamus is a small endocrine organ at the base of the brain that plays a crucial role in many bodily functions:
Hunger and satiety, temperature and pain regulation, fluid balance, puberty, emotions, and fertility.
Although hypothalamic dysfunction is believed to lead to the symptoms of PWS, it is unclear how the genetic abnormality causes hypothalamic dysfunction.
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BIRTH

  • Are silent at birth, week or absent cry
  • Hard to stay awake
  • Little or no appetite
  • Some require a special feeding tube
  • cant breastfeed -poor eating reflexes
  • Floppy babies- low muscle tone-hypotonia
  • Delayed motor/physical milestones
  • Underdeveloped sex organs
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CHILDHOOD

  • Are always hungry
  • Low metabolism
  • Poor muscle tone and low energy output
  • Socialization is harder
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Full time EA

Educational Assistant
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ADULTHOOD

  • 1/3 of adults will be twice their ideal body weight
  • Men are sterile
  • Women typically cant bare children
  • Unable to live independently without supervision
  • Average lifespan is about 50-60 years old
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Most individuals with PWS have decreased intellectual functioning. Average IQ typically 55-70

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Decreased abilities in:

  • Picture recognition
  • Mathematics
  • Short-term memory
  • Daily living skills
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Areas of Strength:

  • Friendliness, affectionate, desire to please, desire to nurture
  • Recognize and evaluate shapes and figures
  • Puzzle solving
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PWS is a spectrum disorder.

All symptoms vary in degree from person to person.
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TREATMENT

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  • Food restriction
  • Good nutrition planning/training
  • Weight management
  • Daily physical activity
  • Mental health care
  • Growth hormones
  • Sex Hormone Replacement Therapy in Adolescence
Photo by Marion Michele
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Growth hormones are the best treatment available to improve the quality of life for people with PWS

Photo by Ashley Rowe
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  • 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
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Photo by archer10 (Dennis) 109M Views
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INTERVENTION

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Physiotherapy, Occupational, Motor/Speech & Language Therapy, Social Skills Therapy and Behavioural therapy

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SERVICES AND SUPPORT

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Photo by Redd Angelo
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Kindercare Pediatrics PWS Clinic with Dr. Dan Flanders, Karen Balko and team

Developmental Services Ontario

Ministry of Community and Social Services

Ontario Disability Support Program

Ministry of Children and Youth Services

Special Services at Home

Photo by Franco Folini
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Camps and group homes are available for individuals diagnosed with PWS. These are specialized facilities to enhance the individuals quality of life

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There are also many online support groups that have been created by parents, for parents on Facebook

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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

Photo by Mike Wilson

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