Angelman Syndrome
By 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
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
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