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Transcript of Prader-Willi Syndrom
is a rare disorder present at birth that results in a number of physical, mental and behavioral problems.
A key feature of Prader-Willi syndrome is a
constant sense of hunger
that usually begins after the first year of life.
Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior such as picking at the skin.
Signs of the disorder that may be present in the first year of life include:
* Poor muscle tone
* Lack of eye coordination
* Generally poor responsiveness
Causes & Inheritance
In 1981, doctors discovered that many of the people diagnosed with PWS had the same segment of genes missing from one of their chromosomes.
For about 70% of the diagnosed cases, the cause had something to do with a missing segment on chromosome 15.
Although every case of Prader-Willi syndrome is due to the baby failing to receive active genes from a specific section of the father’s chromosome 15, there are three different ways that this can happen:
Physical Signs That Lead to a Diagnosis
One out of 12,000-15,000 (as of 2010) are born with PWS.
Approximately 17,000-22,000 Americans have Prader-Willi syndrome.
It occurs in all races and affects males and females equally.
Brianna Kdeiss, Bridgette Neri, Crystal Cao, Kathy Vo
Cal State University Fullerton
* Food craving and weight gain.
* Underdeveloped sex organs.
* Poor growth and physical development.
* Learning disabilities.
* Delayed motor development.
* Speech problems.
* Behavioral problems.
* Sleep disorders
Butler, Merlin Gene (2006). Management of Prader-Willi Syndrome. Springer.
Nan. "MY FRONTAL LOBE: The truth about Prader Willi Syndrome?." MY FRONTAL LOBE. N.p., 13 May 2010. Web. 15 Sept. 2013. <http://docfrontallobe.blogspot.com/2010/05/prader-willi-syndrome.html>.
"Prader-Willi syndrome: Symptoms - MayoClinic.com." Mayo Clinic. N.p., n.d. Web. 16 Sept. 2013. <http://www.mayoclinic.com/health/prader-willi-syndrome/DS00922/DSECTION=symptoms>
"The Children's Institute - The Hospital - Prader-Willi Syndrome Program." Amazing Kids. The Children's Institute, n.d. Web. 16 Sept. 2013. <http://www.amazingkids.org/content.aspx?SectionId=1&SubSectionID=141>.
Methods of Transmission
In very rare cases, the PWS genes on the father’s chromosome are present but do not work because the imprinting process is faulty. When there is a microdeletion or other defect in the imprinting control center, gene function on the father’s chromosome 15 may not be set to work normally.
Maternal Uniparental Disomy
The most common cause is when chromosome 15 is inherited from the father and and the segment that contains the PWS genes is missing.
A less common form of PWS is when the child inherits both copies of chromosome 15 from their mother. A developing baby would have three copies of the chromosome and eventually lose the one it got from the father.
*Floppy with Poor Muscle Tones
*Poor Motor Skills
*Excessive Weight Gain
*Underdeveloped Sex Organs
*Mild Mental Retardation/Learning Disabilities
*Small Hands and Feet
*Behavioral Problems (Temper Tantrums, Stubbornness, Compulsive Behavior)
Because of the chain effects of obesity, depression, heart problems, blood problems, mental and physical stress that occur due to PWD many
are used to fight off the
of the disease.
Muscle Tone Therapy
Daily Growth Hormone Injections
Airway Pressure Machines (If Sleep Apnea Occurs)
Surgery Gastric Bypass
Structured Inpatient Homes
Locked Up Food Cabinets and Refrigerators
Frustrations and struggles with day to day life may lead to anti-social behavior, depression, and hyper aggression.
There is no cure for PSW
Structured Inpatient Homes
Speech Therapy (Due to Slower Mental Development)
What is PWS?
Although diagnosis is usually confirmed by physical based observations, there are some tests that can be done to confirm.
Methylation Analysis (DNA Test that detects deletion, uniparental disomy, or imprinting mutation)