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    Angelman Syndrome

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    Angelman syndrome is a rare genetic disorder caused by the loss of function of the UBE3A gene located on chromosome 15. It affects about 1 in 12,000 to 20,000 people. Characteristic features include delayed development, intellectual disability, lack of speech, movement problems, seizures, and small head size. While there is no cure, treatment focuses on medication to control seizures, physical, speech, and behavioral therapies. Research is ongoing to better understand the condition and develop potential treatments.

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    Angelman Syndrome

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    api-388959318
    145 views13 pages
    Angelman syndrome is a rare genetic disorder caused by the loss of function of the UBE3A gene located on chromosome 15. It affects about 1 in 12,000 to 20,000 people. Characteristic features include delayed development, intellectual disability, lack of speech, movement problems, seizures, and small head size. While there is no cure, treatment focuses on medication to control seizures, physical, speech, and behavioral therapies. Research is ongoing to better understand the condition and develop potential treatments.

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    Angelman syndrome is a rare genetic disorder caused by the loss of function of the UBE3A gene located on chromosome 15. It affects about 1 in 12,000 to 20,000 people. Characteristic features include delayed development, intellectual disability, lack of speech, movement problems, seizures, and small head size. While there is no cure, treatment focuses on medication to control seizures, physical, speech, and behavioral therapies. Research is ongoing to better understand the condition and develop potential treatments.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    145 views13 pages

    Angelman Syndrome

    Uploaded by

    api-388959318
    Angelman syndrome is a rare genetic disorder caused by the loss of function of the UBE3A gene located on chromosome 15. It affects about 1 in 12,000 to 20,000 people. Characteristic features include delayed development, intellectual disability, lack of speech, movement problems, seizures, and small head size. While there is no cure, treatment focuses on medication to control seizures, physical, speech, and behavioral therapies. Research is ongoing to better understand the condition and develop potential treatments.

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    © All Rights Reserved
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    Download as pptx, pdf, or txt
    of 13

    ANGELMAN SYNDROME

    BY: ASHLEY LINN


    WHAT IS IT?
    • Angelman Syndrome (AS) is a rare neuro-genetic disorder
    • Characteristic features result from the loss of the function of the UBE3A gene
    • Individuals with AS are generally diagnosed between 1 and 4 years of age
    • Affects men and women in equal numbers
    HOW CAN AS SPREAD?
    • In most cases AS is not inherited
    • AS affects an estimated 1 in 12,000 to 20,000 people
    • Many cases may go undiagnosed which makes it difficult to determine the disorder’s
    prevalence in the general population

    • 80% of cases can be confirmed through specialized blood tests


    • Ex: DNA methylation
    • AS is normally caused from the loss of the function of the UBE3A gene
    UBE3A GENE
    • People normally inherit one copy of the UBE3A gene from each parent
    • This parent-specific gene activation is caused by genomic imprinting
    • How this relates to Angelman Syndrome:
    • If the maternal copy of this gene is lost due to chromosomal change or gene mutation,
    there will be no active copies of this gene in some parts of the brain
    • 11% of cases are caused by this
    • 70% of cases occur when the maternal chromosome 15 is deleted
    • If a person inherits two copies of chromosome 15 from their father
    • Small percentage
    • Known as uniparental disomy
    • The causes of AS are unknown in 10 to 15 percent of affected individuals
    SIGNS OF AS
    • Delayed development
    • Intellectual disability
    • Severe speech impediment
    • Problems with movement
    • Problems with balance
    • Epilepsy
    • Small head size
    • Sleep disorders
    • Not all individuals diagnosed with AS have all of these characteristics
    TREATMENT
    • There is no cure for AS
    • Anti-seizure medication (anticonvulsants)
    • Physical therapy
    • Ankle braces/supports
    • Communication/speech therapy
    • Behavioral therapy
    • Individuals with AS require life-long care
    • Occupational therapy
    • Those with AS have a normal life expectancy
    RESEARCH
    • AS is often misdiagnosed as cerebral palsy or autism
    • Due to AS’s genetic relationship to autism and other disorders, many
    researchers believe that curing Angelman Syndrome will lead to cures for
    similar disorders
    • Research on AS is on the cusp of potential treatments to reverse the symptoms
    of AS
    RESEARCH*

    Joseph Wagstaff Nicolay Walz


    Boston Children’s Hospital Behavioral Aspects of Angelman Syndrome
    Melatonin and Sleep in Angelman Syndrome Cincinnati Children’s Hospital
    Helped lead to the established therapeutic use of Individuals with AS have abnormalities in sensory
    melatonin to help improve sleep in AS processing

    1996 1997 1998 2008

    Richard Olsen Chris Oliver


    GABA beta3 Deficient Mice Establishing the Basic Principles of Effective
    Showed that the gene UBE3A is the major gene Intervention for Difficult Behavior in AS
    that when disrupted causes the seizures in AS University of Birmingham
    Differentiates AS from other types of genetic
    syndromes associated with intellectual deficiency

    *This does not display all research done on AS


    EVENTS

    • May 19: ASF Walk


    • August 6-7: Research Symposium
    • October 7: Bank of America Chicago Marathon
    MAVERICK
    WORK CITED:
    “Angelman Syndrome - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of
    Health, May 2015, ghr.nlm.nih.gov/condition/angelman-syndrome#resources.

    “What Is AS?” Angelman Syndrome Foundation, www.angelman.org/what-is-as/.

    “ASF Funded Research.” Angelman Syndrome Foundation, www.angelman.org/research/asf-funded-research/.

    “Upcoming Events.” Angelman Syndrome Foundation, www.angelman.org/events/list/.

    “Angelman Syndrome.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-


    diseases/angelman-syndrome/.

    “Angelman Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 2 Mar. 2018,
    www.mayoclinic.org/diseases-conditions/angelman-syndrome/diagnosis-treatment/drc-20355627.
    THANK YOU!

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