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    Prader-Willi syndrome is a complex genetic disorder caused by an error on the 15th chromosome. It results in physical, mental, and behavioral problems including low muscle tone, a chronic feeling of hunger, and high body fat. While the syndrome cannot usually be passed down from parent to child, it occurs in around 1 in 10,000 to 30,000 births due to a random gene error. Signs include poor feeding, lack of growth, and cognitive impairments. Treatment focuses on managing appetite, providing therapy and supplements, and maintaining a healthy diet and lifestyle.

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    Prader-Willi syndrome is a complex genetic disorder caused by an error on the 15th chromosome. It results in physical, mental, and behavioral problems including low muscle tone, a chronic feeling of hunger, and high body fat. While the syndrome cannot usually be passed down from parent to child, it occurs in around 1 in 10,000 to 30,000 births due to a random gene error. Signs include poor feeding, lack of growth, and cognitive impairments. Treatment focuses on managing appetite, providing therapy and supplements, and maintaining a healthy diet and lifestyle.

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    32 views14 pages

    Physio Final Project Presentation

    Uploaded by

    api-285959156
    Prader-Willi syndrome is a complex genetic disorder caused by an error on the 15th chromosome. It results in physical, mental, and behavioral problems including low muscle tone, a chronic feeling of hunger, and high body fat. While the syndrome cannot usually be passed down from parent to child, it occurs in around 1 in 10,000 to 30,000 births due to a random gene error. Signs include poor feeding, lack of growth, and cognitive impairments. Treatment focuses on managing appetite, providing therapy and supplements, and maintaining a healthy diet and lifestyle.

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    of 14

    Presentation

    Prad
    -Willi
    er
    S

    e
    m
    o
    r
    d
    yn
    Phuong Tran, Phap Vo
    Katrina Hong &

    What is Prader-Willi
    Syndrome?

    Definition: a complex genetic disorder of the 15th


    chromosome that results in physical, mental and behavior
    problems
    Why is it bad?: chronic feeling of hunger due to slow
    metabolism

    A Prader-Willi Syndrome
    Patient
    has a lot of body fats

    Background on Chromosomes
    Chromosomes: are the packages of genes we inherit from
    our parents, that contain DNA
    - there are 46 chromosomes (23 from the dad and 23 from
    the mom)

    The 15th
    Chromosome

    Why?: an error with 15th chromosome


    during the formation of eggs and sperm

    Can the disorder be passed down?


    - in most cases, it cannot

    Signs and
    Symptoms

    Infancy Stage
    - poor muscle tone
    - abnormal facial structures
    - poor sucking reflex
    - lower weight than infants their
    age
    - poor eye coordination
    - poor response

    Signs and
    Symptoms

    Early childhood to adulthood stage


    - food craving
    - underdeveloped sex organs
    - low muscle mass, high body fats
    - weight gain
    - impairment in learning, thinking,
    reasoning and speaking

    What body part is


    affected?
    The

    Brain:
    Motor Skills
    Oral skills
    Cognition

    What body part is


    affected?

    Hypothalamus: part of the brain that registers the feeling of hunger

    Treatment
    s
    -

    human growth hormone to


    stimulate growth
    hormone replacement therapy
    appetite suppressant drugs dont
    help
    therapy

    Treatment
    s
    - healthy diet
    - restriction on meals

    In recent news...
    Growth hormone boosts muscle development in Prader-Willi syndrome

    How common
    is it?

    Males and females have an equal chance


    of having Prader-Willi syndrome.
    Rate of Prader-Willi syndrome:
    1 in 10,000 to 30,000
    people worldwide

    Works cited
    "About PWS." Foundation for Prader Willi Research. FPWR, n.d. Web. 16 Jan. 2015. <http://www.fpwr.org/aboutprader-willi-syndrome/>.
    "About PWS." PWSAUSA. Prader-Willi Syndrome Association, n.d. Web. 18 Jan. 2015. <http://www.pwsausa.org/aboutpws>.
    "Chromosome 15." Genetics Home Reference. National Library of Medicine, 16 Sep. 2013. Web. 16 Jan. 2015.
    <http://ghr.nlm.nih.gov/chromosome/15>.
    "Mom Must Lock Refrigerator for Constantly Hungry Daughter." YouTube. YouTube, 14 Dec. 2014. Web. 20 Jan.
    2015.
    <https://www.youtube.com/watch?v=JO0LL4t2Q4Y>.
    "Prader-Willi Syndrome." Mayo Clinic. Mayo Clinic, 17 Apr. 2014. Web. 17 Jan. 2015.
    <http://www.mayoclinic.org/diseases-conditions/prader-willi-syndrome/basics/definition/con-20028982>.
    "Prader-Willi Syndrome." Genetics Home Reference. National Library of Medicine, 16 Sep. 2013. Web. 17 Jan. 2015.

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