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ANGELMAN SYNDROME
BY: 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
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 QUESTION
S?THANKYO
U