angelman syndrome assignment

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Post on 13-Feb-2017

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ANGELMAN SYNDROME

ANGELMAN SYNDROMEBY: BATOOL BAQIR(435)ROOMANA PERVAIZ(469)SUNADS SAGHIR(477)

definition and introduction

ANGELMAN SYNDROME IS A COMPLEX NEUROGENETIC DISORDER THAT PRIMARILY AFFECTS THE NERVOUS SYSTEM. once termed as happy puppet

HARRY ANGELMAN, an English paediatrician, first described Angelman syndrome in a paper published in 1965.

Genetics behind angelman syndrome

Other causes of angelman syndrome

1

facial features that distinguish them from others

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

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.

complications

Feeding difficultyHyperactivitySleep disorderCurving of spine Obesity

treatment

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.

Any questions?Thankyou

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