Transcript
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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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1

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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


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