angelman syndrome: kelsey blackburn
TRANSCRIPT
By Kelsey Blackburn
“A genetic disorder that causes developmental delay and neurological problems.”
http://www.medicinenet.com/angelman_syndrome/article.htm
It was first described in 1965 by Dr. Harry Angelman
Small head size
Hyperactivity
Seizures
Sleep and balance disorders
Frequent laughter and smiling
Speech impairment
Uplifted flexed arms
Sensitivity to heat
Babies appear to be normal at birth, but they have noticeable developmental
delays when they are 6-12 months old
Seizures occur between 2-3 years of age
By the age of 3, kids will have noticeable balance problems, speech impairment, and frequent laughter
People that have Angelman have a deleted area in chromosome 15.
The person has Angelman because there is an absence of a functional copy of a gene called
UBE3A that is inherited from their mother.
It is also possible to get Angelman if a baby inherits both chromosomes 15. This is called
paternal uniparental disomy or UPD.
There is no treatment for the Angelman Syndrome, although
there are many types of therapy that can help control
the symptoms like…..
Medical therapy for seizures
Physical therapyBehavioral therapy
Communication therapy
It is found among all racial groups
An exact count of how many people have it is unknown, but
we can estimate there are around1,000 cases in the U.S.
and Canada
http://www.medicinenet.com/angelman_syndrome/article.htm
http://www.geneclinics.org/profiles/angelman/details.html
http://www.hmc.psu.edu/childrens/healthinfo/a/angelman.htm
http://ghr.nlm.nih.gov/condition=angelmansyndrome
http://www.mayoclinic.com/health/angelman-syndrome/DS01048/DSECTION=causes
http://www.specialchild.com/archives/dz-001.html
http://www.johnwill.net/matthew/matt45.jpghttp://www.pnwasf.org/html/gallery.htm