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Created with Fabric.js 1.4.5 Angelman Syndrome What are the Causes Who is impact Symptoms of Angelman Current research What is it like to live with The best available data come from studies of school age children, ages 6-13 years, living in Sweden, and from Denmark where the diagnosis of AS children in medical clinics was compared to an 8 year period of about 45,000 births. Diagnsis Happy Puppet syndrome Theirs no cure and still the same treatments Characteristic Angelman syndrome signs and symptoms include:Developmental delays, such as lack of crawling or babbling at 6 to 12 months, and intellectual disabilityLack of or minimal speechInability to walk, move or balance well (ataxia)Frequent smiling and laughterHappy, excitable personalityPeople who have Angelman syndrome may also have other signs and symptoms, including:Seizures, usually beginning between 2 and 3 years of ageStiff or jerky movementsSmall head size, with flatness in the back of the head (microbrachycephaly)Tongue thrustingLight pigmentation in hair, skin and eyes (hypopigmentation)Unusual behaviors, such as hand flapping and arms uplifted while walking By Derrick .Angel man Syndrome is caused by a severe reduction of expression of the gene UBE3a in the brain. UBE3A is a ubiquitin ligase whose function and targets relevant to AS are still unknown. "Angelman Syndrome." Angelman Syndrome. N.p., n.d. Web. 24 Feb. 2015. Seizure Disorder: This can have a significant impact on the development of an individual and should be closely monitored by a licensed medical professional. Medications and dietary modifications have been shown to alleviate epilepsy and should be discussed with the child's licensed medical professional.Therapy and Services: There is ample scientific evidence that points to the success of Early Intervention in terms of physical, occupational, and speech therapy for persons with disabilities. Therapies for older individuals can also be effective in enhancing skills and the quality of life.Diet and Nutrition: Like any individual, a person with Angelman Syndrome needs a nutritious diet. Given the feeding and reflux issues many individuals with AS deal with, it is beneficial to seek advice from dieticians and GI specialists If a child is unable to take foods orally, parents should consult with a medical professional about a G-tube, which delivers nutrients through a surgically manufactured opening in the stomach. Testing for AS is summarized in the diagram. The most efficient method to begin the diagnostic study is the methylation test. This test costs about $300 and screens for three of the four known genetic mechanisms that cause AS and thus diagnoses about 80 to 85% of individuals with AS. If it is abnormal, one of three genetic mechanisms, as indicated in the diagram, is going to be the cause of AS. A FISH (fluorescent in situ hybridization) 15 test or comparative genomic hybridization (CGH) test (both use blood testing) is then the next test to be performed. "Diagnostic Testing." - Angelman Syndrome Foundation, Inc., Research, Genetic Counseling, Diagnosis, Testing, Seizures, Angelmans Syndrome Association. N.p., n.d. Web. 04 Mar. 2015. "Angelman Syndrome." Angelman Syndrome. N.p., n.d. Web. 04 Mar. 2015.
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