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Angelman Syndrome

By Stephanie Cuevas

Summer Science Project

What is Angelman Syndrome?

Angelman Syndrome also known as Happy Puppet Syndrome is a genetic mutation where the mother doesn't give off chromosome 15 to the child. People with A.S have delayed development and problems with movement and balance. The disorder mainly affects their nervous system.

What are the Symptoms?

What are the Symptoms?

Symptoms you can spot in someone who has A.S include:

-Happy Demeanor

-Small, Round Head

-Ataxia

-Speech Impairment

More Symptoms

-Seizures

-Sleep Disorder

Symptoms Cont.

-Hypopigmentation

-Fascination with water

-Scoliosis

-Short Attention Span

What causes Angelman Syndrome?

Angelman Syndrome is caused when the gene UBE3A is not given to the child through chromosome 15- This could happen in 4 diffenent ways.

Parental UBD

Parental UBD is when the female doesn't give chromesome 15 at all so the body has to replace the missing chromosome with a male chromosome. So instead of one female and one male, it has two male chomosomes. And since the UBE3A gene in the male is silent, the child doesn't recieve the gene.

Imprinting Defect And Mutatation

Imprinting Defect is when the female gives the UBE3A gene but it is silent just like the male gene. UBE3A Mutation is when the gene given is not functional.

Deletion

Deletion is when the female UBE3A gene is completely missing from her chromosome given to the child so they are only left with the male gene in chromosome 15.

Inherted & Treatment

Inherted & Treatment

-A.S is not sex-linked and it is not

recessive nor dominant since it is a form

of genetic imprinting and not inherited.

-Most cases of Angelman syndrome are

found with chromosome 15.

Treatments

Treatments

Angelman Syndrome has no cure but there are therapies and medications to help the person.

Treatments Cont.

Physical Therapy

- Helps patient's muscles and balance with

moving around

Behavior Therapy

-Helps patients with their behavior and teaching

them good habits

Treatments Cont.

Occupational Living

- Helps patients' with their daily lives and

inforces everyday skills

Medications

-Sedative ( Causes patients' to be calm and

sleepy)

-Seizure Medication

Diagnostic Tests

A doctor usually checks for symptoms in the child and then does a blood test to check for missing chromosomes and parental DNA patterns.

How Common is A.S?

Angelman Syndrome is rare. It affects less than 200,000 people in the United States and about 1 out of every 12,000 to 20,000 people worldwide.

New Information About A.S

New Information About A.S

On March 8 2017, The Angelman Syndrome Foundation-Funded Research (ASF) discovered how A.S is similar to Autism and how a existing drug called CN2097 could cure A.S!

They researched that these little biochemical pathways in the brain are not fully activated in patients with Angelman Syndrome.

New Information Cont.

Those pathways cause development defects in their brains so a research team is trying to alter the drug CN2097 (since the effects are not long-lasting) to fix those defects. They are currently experimently on mice.

CN2097

Bibliography

https://ghr.nlm.nih.gov/condition/angelman-syndrome

Bibliography

https://www.angelman.org/research-discovers-new-clues-for-potential-treatments-of-angelman-syndrome/

http://www.mayoclinic.org/diseases-conditions/angelman-syndrome/home/ovc-20307374

http://www.medicinenet.com/angelman_syndrome/article.htm

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