angelman
TRANSCRIPT
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