Angelman syndrome assignment
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Transcript of Angelman syndrome assignment
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ANGELMAN SYNDROME
BY: BATOOL BAQIR(435)
ROOMANA PERVAIZ(469)
SUNADS SAGHIR(477)
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DEFINITION AND INTRODUCTION
ANGELMAN SYNDROME IS A COMPLEX NEUROGENETIC DISORDER THAT PRIMARILY AFFECTS THE NERVOUS
SYSTEM.
once termed as ‘happy puppet’
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HARRY ANGELMAN, an English paediatrician, first described Angelman syndrome in a paper published in 1965.
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GENETICS BEHIND ANGELMAN SYNDROME
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OTHER CAUSES OF ANGELMAN SYNDROME
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FACIAL FEATURES THAT DISTINGUISH THEM FROM
OTHERS
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SYMPTOMS OR CHARACTERISTICS
Developmental delaysSevere speech impairmentDisorders of balance or movementSeizures at less than 3 years of ageFeeding problems through infancyExcessive chewing or mouth disorders
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CONT.Frequent laughterHappy demeanourEasily gets excitedHYPOPIGMENTED SKIN : light hair + light eyes as compared to the rest of the familyAttraction to or fascination with water, crinkly items such as paper or plasticSmall head size and distinctive facial features
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PREVALENCE
12,000 to 20,000 in general.
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COMPLICATIONS
Feeding difficultyHyperactivitySleep disorderCurving of spine Obesity
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TREATMENT
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PREVENTION
In rare cases, Angelman syndrome may be passed from affected parent to child through defective genes. If you're concerned about a
family history of Angelman syndrome, or if you already have a child with Angelman syndrome,
consider talking to your doctor or a genetic counselor for help planning future
pregnancies.
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ANY QUESTION
S?THANKYO
U