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Angelman SyndromeBy Annaliese Patten
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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
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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
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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
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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
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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
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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