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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.
Symptoms you can spot in someone who has A.S include:
-Happy Demeanor
-Small, Round Head
-Ataxia
-Speech Impairment
-Seizures
-Sleep Disorder
-Hypopigmentation
-Fascination with water
-Scoliosis
-Short Attention Span
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 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 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.
-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
Angelman Syndrome has no cure but there are therapies and medications to help the person.
Physical Therapy
- Helps patient's muscles and balance with
moving around
Behavior Therapy
-Helps patients with their behavior and teaching
them good habits
Occupational Living
- Helps patients' with their daily lives and
inforces everyday skills
Medications
-Sedative ( Causes patients' to be calm and
sleepy)
-Seizure Medication
A doctor usually checks for symptoms in the child and then does a blood test to check for missing chromosomes and parental DNA patterns.
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.
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.
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
https://ghr.nlm.nih.gov/condition/angelman-syndrome
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