Angelman syndrome

WHAT IS ANGELMAN SYNDROME?

• Angelman Syndrome is a complex genetic disorder 
• It affects the person's nervous system
• 1 in every 12,000 people are diagnosed with the Angelman Syndrome

charateristic features of this disorder are

• Happy demeanor all the time and hyperactivity
•  Seizures
• Severe speech impairment and intellectual disabilities
• Short attention span and a fascination of water
• Trouble sleeping

Cure for angelman syndrome

• There is no cure for this syndrome yet
• There are medications for seizures 
• Scientists are working on a possible cure
• They also have therapy sessions for people diagnosed with it

causes of Angelman syndrome

• AS is caused by a mutation in a maternal  copy of the UBE3A gene
• The UBE3A gene stands for Ubiquitin-protein ligase E3A and is an enzyme
• Also UBE3A targets proteins and breaks them down in cells
• Angelman Syndrome targets the nervous systems

IS angel syndrome Heredity?

• Yes it CAN be passed down for generations
•  It is very rare for it to happen
• It happens when the child receives two copies of chromosome 15 

who discovered Angelman syndrome?

•  Dr. Harry Angelman
• He was a British Consultant Pediatrician
• He initially called it " Happy Puppet Syndrome"
• He discovered it in 1965 after observing several children 

physical features

• Unusual skin color that does not match with hair color
• Small head size
• Excited demeanor and frequent smiling
• Hand-flapping movements

Four genetic diagnoses

• Deletion- No chromosome 15 from either parent
• Uniparental disomy- Father only has the 15th chromosome
• Imprinting- Mom chromosome copies father's chromosome
• UBE3A Mutation is the 4th one

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