1. Angelman Syndrome By Annaliese Patten

2. What is it?

3. Patient’s Report Seizures, happy demeanor, hyperactivity, sleeping disorders, feeding problems, scoliosis, balance problems, developmental delay: motor skills, lack of speech With correct therapies, live good lives, sleep improves, seizures diminish Problems with movement, speech, mental, obesity No independent living No developmental regression in age

4. Doctor’s Report Physiological cause severe neurological disorder, affects nervous system blood test/DNA test, clinical diagnosis shared symptoms with autism, cerebral palsy developmental delays, happy demeanor, seizures No cure, medication for seizures, therapies-physical, communication, behavioral, special education Good survival, Normal life span

5. Genetic Counselor’s Report Chromosome 15, gene UBE3a, deletion on gene on maternal chromosome Mutation Rarely becomes inherited, risks if there is a deletion Next Generation- most likely will not have affected children

6. Parent’s Report Qualify for Social Security Disability claim Qualify for SSA compassionate allowance, but can be denied The money for therapies, special education Can find parent support groups Emotional Issues- stress, need advice, frustrations Ethical considerations if you accept, how therapies are done, medications Social concerns Wants to interact, doesn’t understand social cues, sometimes fear

7. Bibliography Angelman syndrome. (n.d.). November 3, 2015. http://ghr.nlm.nih.gov/condition/angelman-syndrome Genetic Mechanisms of Angelman Syndrome. (n.d.). November 3, 2015. http://www.angelman.org/understanding-as/medical-info/genetic-mechanisms-of-angelman-syndrome/ Angelman syndrome. (n.d.). November 3, 2015. http://www.mayoclinic.org/diseases-conditions/angelman-syndrome/basics/definition/con-20033404 Prognosis of Angelman syndrome. (n.d.). November 3, 2015. http://www.rightdiagnosis.com/a/angelman_syndrome/prognosis.htm (n.d.). November 3, 2015. http://www.angelman.org/_angelman2/assets/Image/Genetics_Familial.jpg Appanah, N. (2013, August 13). Angelman Syndrome. November 3, 2015. http://www.eurordis.org/content/living-angelman-syndrome Williams, C., Driscoll, D., & Dagli, A. (2010, April). Clinical and genetic aspects of Angelman syndrome. November 3, 2015. http://www.nature.com/gim/journal/v12/n7/full/gim201062a.html NINDS Angelman Syndrome Information Page. (2011, October 7). November 3, 2015. http://www.ninds.nih.gov/disorders/angelman/angelman.htm Angelman syndrome. (2014, February 9). November 3, 2015. http://www.nhs.uk/Conditions/angelman-syndrome/Pages/Introduction.aspx

8. Biblio cont. NINDS Angelman Syndrome Information Page. (2011, October 7). November 3, 2015. http://www.ninds.nih.gov/disorders/angelman/angelman.htm Pediatric Speech Language Therapy (SLP). (2012, December 19). November 3, 2015. https://www.t2000.com/pediatric-speech-therapy/ Neurological Problems. (n.d.). November 3, 2015. http://jmphysiocare.co.uk/we-treat/neurological-problems/ Pelc, K., Cheron, G., & Dan, B. (2008, June 1). Behavior and neuropsychiatric manifestations in Angelman syndrome. November 3, 2015. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2526368/ Social Security Disability Help. (n.d.). November 3, 2015. http://www.disabilitybenefitscenter.org/compassionate-allowances/angelman-syndrome-social-security-disability Dagli, A. (2015, May 14). Angelman Syndrome. November 3, 2015. http://www.ncbi.nlm.nih.gov/books/NBK1144/ https://www.youtube.com/watch?v=ETMW0lExCgs