1. ANGELMAN SYNDROME
Abby Siskind
SLP 242
Section 28287
2/19/13

2. DEFINITION

Angelman Syndrome is a complex neurogenetic disorder that
primarily affects the nervous system. Characteristic features
of this condition include delayed development, intellectual
disability, severe speech impairment, and problems with
movement and balance (ataxia).

Most affected children also have recurrent seizures
(epilepsy) and a small head size (microcephaly).
Ghr.nlm.nih.gov/condition/angelman-syndrome

3. CHARACTERISTICS

Happy, excitable demeanor with frequent smiling and laughter

Uplifted hand-flapping movements or waving

Hyperactivity/short attention span

Fascination with water and crinkly items, (like paper)

Abnormal sleep patterns

Widely spaced teeth

Increased sensitivity to heat

Frequent drooling

With age-- distinctive “coarse” facial features-- unusually fair skin
with light-colored hair, scoliosis

Ataxia-- tremulous movement of the limbs, forward lurching,
unsteadiness, clumsiness, quick, jerky motion

4. CAUSES

~ 70% of cases-- occur when a segment
of the maternal chromosome 15
containing the gene is deleted

~ 11% of cases caused by a mutation in
the UBE3A gene

small % of cases-- when a person
inherits 2 copies of chromosome 15
from his/her father instead of 1 from
each parent

A few rare cases-- caused by a
chromosomal arrangement called
“translocation”(when a segment of
genetic material from one chromosome
becomes heritably linked to another
chromosome).

5. PREVALENCE
HOW COMMON IS ANGELMAN SYNDROME??
Angelman Syndrome affects an estimated 1 in 10,000 live births
http://ajslp.asha.org/cgi/content/abstract/7/2/14

6. AGE OF ONSET

Most cases become
noticeable by 6-12 months.
Delayed development along
with other common signs
and symptoms will become
more apparent throughout
early childhood.

With a healthy and active
lifestyle, people with
Angelman Syndrome live a
normal lifespan.

7. GREATNESS ACHIEVED
ARE THERE ANY
FAMOUS PEOPLE
WITH ANGELMAN
SYNDROME?

James Farrell- 4 year old son of
actor, Collin Farrell

Son of Major League Baseball
player, Dave Henderson

Son of world-renown author, Ian
Rankin

8. TYPICAL SUPPORT

Anti-seizure medication

Physical therapy-- can help with walking and other
movement problems such as stiffening of joints.

Behavior therapy-- can help overcome
hyperactivity and short attention span, (which aids in
developmental progress).

9. SPEECH AND LANGUAGE
THERAPY

People with Angelman Syndrome don't usually develop
verbal language beyond simple sentences, but non-verbal
language skills such as sign language and picture
communication may be taught.

An SLP may choose to also work on oral-motor exercises,
feeding therapy, speech pragmatics, conversation skills,
concept skills, and cognitive skills, depending upon the
individual's personal abilities.

Might be best to begin with sensory integration, use signing,
music, games, computers, and pictures to help facilitate a
good communication model.

10. POWER OF PICTURES

11. PHOTO SOURCES
http://www.angelman.org/
http://www.angelmanforum.org/viewtopic.php?
t=17&sid=e7a1a32eb200d2adef1d76d38b3cbc0d
http://www.cureangelman.org/informed-variability.html
http://cookandsonbats.mlblogs.com/2010/12/
http://www.flickr.com/photos/rarediseaseday/4321414486/
http://hellerbrittani.wikispaces.com/Chromosome+15
http://www2.massgeneral.org/childhoodepilepsy/medical/causes.htm
http://mestisainsuburbia.blogspot.com/2009/05/angelman-syndrome-walk-thon-update.html
http://www.ourangeltyler.com/
http://www.voxxi.com/angelman-syndrome-symptoms-treatment-and-new-findings/

12. WEB SOURCES CITED
http://ajslp.asha.org/cgi/content/abstract/7/2/14
http://www.childrenshospital.org/az/Site2066/mainpageS2066P0.html
http://www.cureangelman.org/informed-speech.html
http://ghr.nlm.nih.gov/condition/angelman-syndrome
http://www.mayoclinic.com/health/angelman-syndrome/DS01048/DSECTION=treatments-and
http://www.primehealthchannel.com/angelman-syndrome-symptoms-pictures-causes-life-expec