Prader-Willi Syndrome (PWS) is a genetic disorder involving the 15th chromosome. In general, symptoms of this disorder include some level of developmental disability, learning disabilities, insatiable appetite which can lead to gross obesity, metabolic dysfunction, low muscle tone (hypotonia), incomplete sexual development, rigid personality, some obsessive features, physical characteristics that are diagnostic of the syndrome, and significant behavioral problems. Prader-Willi Syndrome was first described in 1956 by three doctors (Andrea Prader, Neinrich Willi and Alexis Labhart). Since then, research and subsequent advances in treating the problems associated with Prader-Willi Syndrome have increased the life expectancy of these individuals, to the point where some live a normal life span.
It is estimated that Prader-Willi Syndrome occurs in 1 in 10,000 - 12,000 births. It occurs with equal frequency in males and females and across all races.
There are two stages identified in Prader-Willi Syndrome, with the following characteristics typically observed at each stage:
Failure to Thrive (during the first year or so of life)
- Low birth weight/poor weight gain
- "Floppy baby" syndrome or weak muscle tone (hypotonia)
- Poor sucking reflexes
- Refusal to eat or keep food down
- Delayed motor development: sitting, crawling, walking and speech
- Underdeveloped genitals
Thriving Too Well (usually beginning between 2 to 4 years of age)
- Insatiable appetite, compulsive eating and obsession with food (hyperphagia)
- Obesity (resulting from hyperphagia, hypotonia and the need for fewer calories)
- Behavior problems, such as stubbornness and temper tantrums (usually beginning during preschool years)
- Learning disabilities or cognitive delays (in the mild to moderate range, although some have IQs close to 100)
- Speech and language problems
- Poor social skills/interactions
Physical Characteristics Persisting into Adulthood
- Short stature
- Small hands and feet
- Pear-shaped body
- Waddling gait
- Pickwickian Syndrome association (falling asleep suddenly)
- Hip and joint problems
- Scoliosis (lateral curvature of the spine)
- Myotonia (prolonged muscle spasm)
- Incomplete sexual development
- Obesity, which may result in further health problems
- Susceptibility to potential respiratory and heart problems
- Almond-shaped eyes
- Narrow face
- Small, down-turned mouth
- Sleep disturbance/sleep apnea
- Abnormal body temperature regulation
- Increased pain tolerance (which may contribute to "picking" behaviors)
- Hypopigmentation and associated sensitivity to sunlight
- Cross-eyed (esotropia)/nearsighted (myopia)
Behavioral Characteristics Persisting into Adulthood
- Child-like
- Showing behavior which is unpredictable and erratic, including rage or other aggressive outbursts
- Stubborn
- May suffer from depression
- Obsessive/compulsive
- Egocentric
- Argumentative
- Manipulative
- Possessive
- Food seeking/foraging for food
- Stealing, particularly related to food
- Oppositional
- Rigid thought process
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The specific cause of Prader-Willi Syndrome is unclear. However, every case is the result of an absence of genetic material from a section of the father's chromosome 15. There are three different ways that this occurs:
- It is estimated that 70% of the cases are attributed to paternal deletion (Part of chromosome 15 from the father is missing.)
- Approximately 25% of those with Prader-Willi Syndrome have maternal disomy (Both copies of chromosome 15 come from the mother; thus the father's genetic material is absent.)
- The remaining 5% of the cases are associated with an imprinting defect (Genes on the father's chromosome 15 are present but do not work.)
Chromosome 15 controls the hypothalamus, the part of the brain that regulates body temperature and water balance; controls appetite; and influences blood pressure, sexual behavior, aggression, fear and sleep. The hypothalamus also controls the pituitary gland (ultimately affecting growth, sexual development and metabolism). The current school of thought says that in individuals with Prader-Willi Syndrome, the hypothalamus is not working properly and the functions it controls are therefore affected.
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We provide a living environment in which each individual is valued and provided with the opportunity to explore his/her highest potential of independence within a safe, supportive and therapeutic environment.
Individuals with Prader-Willi Syndrome do much better in a highly structured living environment. Carefully controlled diets and regular exercise are central to controlling weight gain. Occupational therapy may be helpful in promoting motor development and improving hypotonia. Early and ongoing speech therapy may also be beneficial to individuals with speech and language problems. Individuals with Prader-Willi Syndrome are better with concrete concepts (such as jigsaw puzzles and word search games) rather than abstract ideas. Visual and demonstration methods used for teaching activities are more helpful and effective than simply relating information. These concepts are incorporated into our program services.
We provide treatment for individuals with Prader-Willi Syndrome within a highly structured daily routine and activity schedule, providing 24-hour support and supervision, strict dietary monitoring and intervention and behavior management.
Even though individuals with Prader-Willi Syndrome have multiple and complex needs, the prognosis and treatment is very positive if done in a structured setting. The behavioral, psychological, emotional and personality characteristics of individuals with Prader-Willi Syndrome are all areas that require ongoing support and management.
We offer an array of programs and services, including individual treatment plans, vocational and educational programming, independent living skills training, psychiatric and psychological consultation, motivational systems, dietician consultation and exercise programming, community integration opportunities and social work and case management.
The staff at IDTC recognize that each child is unique with individual strengths and needs. Our priority is always the well being of each child. If we find that IDTC cannot offer the very best care and services for your child, we are happy to help facilitate placement in another facility.
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Feel free to contact us if you have any specific questions or would simply like more information or resources.
E-Mail (please click on the link): Catharine Crockett, Admissions
Phone: 1-317-815-0505
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Prader-Willi Homes of Oconomowoc
Prader-Willi Syndrome Association
Prader-Willi Syndrome Association of WI, Inc.
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This information is provided as a general overview only and is not intended as medical advice. This information should not be used to diagnose or treat any health problem, disease or medical condition. It is not provided as a substitute for professional care. If you have any health concerns, please consult the health care provider of your choice.
© Copyright 2005 Indiana Developmental Training Center LLC
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