ANGELMAN SYNDROME

Abby Siskind

SLP 242Section 28287

2/19/13

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

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

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).

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

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.

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

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).

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.

POWER OF PICTURES

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/

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-drugs

http://www.primehealthchannel.com/angelman-syndrome-symptoms-pictures-causes-life-expectancy-and-treatment.html