Angelman SyndromeBy Annaliese Patten

What is it?

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

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

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

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

BibliographyAngelman syndrome. (n.d.). November 3, 2015.

http://ghr.nlm.nih.gov/condition/angelman-syndromeGenetic 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-20033404Prognosis 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.jpgAppanah, N. (2013, August 13). Angelman Syndrome. November 3, 2015.http://www.eurordis.org/content/living-angelman-syndromeWilliams, 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.htmlNINDS Angelman Syndrome Information Page. (2011, October 7). November 3, 2015.http://www.ninds.nih.gov/disorders/angelman/angelman.htmAngelman syndrome . (2014, February 9). November 3, 2015.http://www.nhs.uk/Conditions/angelman-syndrome/Pages/Introduction.aspx

Biblio cont.

NINDS Angelman Syndrome Information Page. (2011, October 7). November 3, 2015.http://www.ninds.nih.gov/disorders/angelman/angelman.htmPediatric 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-disabilityDagli, A. (2015, May 14). Angelman Syndrome. November 3, 2015.

http://www.ncbi.nlm.nih.gov/books/NBK1144/https://www.youtube.com/watch?v=ETMW0lExCgs