1. Mackenzie Walsh

2.  1965- Dr. Harry Angelman noticed a condition in 3 children  He was a British pediatrician  Early 1980s- more cases were reported from the US  1987- half the children with the condition  missing a piece of chromosome 15  Disorder was named after Dr. Harry Angelman (chromosome 15)

3.  Genetic disorder that affects the nervous system  Noticeable in early childhood  6-12 months after birth  Occurs during early embryonic development  Similar syndrome- Prader-Willi syndrome  caused by loss of paternal gene

4.  Loss-of-function UBE3A on chromosome 15  Normally inherit one copy from both parents  Mutation in maternal copy (genetic imprinting)  Usually not inherited  Can be due to:  Piece of maternal copy of chromosme 15 gets deleted  Inherit 2 paternal copies of chromosome 15 (paternal uniparental disomy)  Translocation  mutation in region with UBE3A

5.  Delayed development  Hyperactivity  Short attention span  Fascination with water  Difficulty sleeping  Improves with age  Extremely happy and excitable  Frequent laughing, smiling, hand motions

6.  Flattened skull  Prominent chin  Wide mouth and teeth  Scoliosis (abnormal bend in spine)  Small head  Under weight  Light colored hair and skin  Typically due to loss of gene OCA2  located in same region as UBE3A  often deleted with UBE3A

7.  Intellectual disability  Speech impairment  Ataxia (problems w/ movement or balance),  Epilepsy (seizures)

8.  No exact diagnosis  Follow diagnosis criteria:  Delay in general development  Unusual jerking movement  Characteristic facial features  History of epilepsy  Frequent laughter  Deletion of chromosome 15

9.  No cure- can only treat symptoms  Anti-epleptic medicine- seizures  Spinal surgery/ physical therapy- spinal problems

10.  Angelman syndrome occurs in about 1 out of 20,000 children  Normal life span  Need careful help/ assistance through out life

11.  Discovered by Dr. Harry Angelman in 1965  Genetic disorder that affects the nervous system  Loss-of-function UBE3A on chromosome 15  Mutation in maternal copy  Behavioral, physical, and medical symptoms  Follow diagnosis criteria  No cure  Can only treat symptoms  Can live a normal life span

12.  http://ghr.nlm.nih.gov/condition/angelman-syndrome#definition http://ghr.nlm.nih.gov/condition/angelman-syndrome#definition  http://www.nhs.uk/conditions/angelman-syndrome/Pages/Introduction.aspx http://www.nhs.uk/conditions/angelman-syndrome/Pages/Introduction.aspx  http://www.news-medical.net/health/What-is-Angelman-Syndrome.aspx http://www.news-medical.net/health/What-is-Angelman-Syndrome.aspx  http://www.angelmanproject.com/history.htm http://www.angelmanproject.com/history.htm  http://www.childrenshospital.org/health-topics/conditions/angelman-syndrome http://www.childrenshospital.org/health-topics/conditions/angelman-syndrome  http://www.medicinenet.com/angelman_syndrome/article.htm http://www.medicinenet.com/angelman_syndrome/article.htm  http://www.nature.com/nature/supplements/collections/humangenome/chromo somes/15.html http://www.nature.com/nature/supplements/collections/humangenome/chromo somes/15.html  http://en.wikipedia.org/wiki/Harry_Angelman http://en.wikipedia.org/wiki/Harry_Angelman  http://metro.co.uk/2012/11/13/elliot-eland-never-stops-laughing-due-to- angelman-syndrome-619303/ http://metro.co.uk/2012/11/13/elliot-eland-never-stops-laughing-due-to- angelman-syndrome-619303/  http://ananceleste.hubpages.com/hub/Puppet-Children-Angelman-Syndrome http://ananceleste.hubpages.com/hub/Puppet-Children-Angelman-Syndrome  http://www.dana.org/news/brainwork/detail.aspx?id=1368 http://www.dana.org/news/brainwork/detail.aspx?id=1368  http://mrsdisease.com/angelman-syndrome-facts-and-information/2013/01/21/ http://mrsdisease.com/angelman-syndrome-facts-and-information/2013/01/21/  http://www.atlanta.k12.ga.us/site/default.aspx?PageType=14&DomainID=870&Pa geID=4108&ModuleInstanceID=2871&ViewID=7070de72-c6ac-43a7-b8eb- 103562708ba5&IsMoreExpandedView=True http://www.atlanta.k12.ga.us/site/default.aspx?PageType=14&DomainID=870&Pa geID=4108&ModuleInstanceID=2871&ViewID=7070de72-c6ac-43a7-b8eb- 103562708ba5&IsMoreExpandedView=True  http://leds-news.blogspot.com/ http://leds-news.blogspot.com/