WHAT IS IT? • Angelman Syndrome (AS) is a rare neuro-genetic disorder • Characteristic features result from the loss of the function of the UBE3A gene • Individuals with AS are generally diagnosed between 1 and 4 years of age • Affects men and women in equal numbers HOW CAN AS SPREAD? • In most cases AS is not inherited • AS affects an estimated 1 in 12,000 to 20,000 people • Many cases may go undiagnosed which makes it difficult to determine the disorder’s prevalence in the general population
• 80% of cases can be confirmed through specialized blood tests
• Ex: DNA methylation • AS is normally caused from the loss of the function of the UBE3A gene UBE3A GENE • People normally inherit one copy of the UBE3A gene from each parent • This parent-specific gene activation is caused by genomic imprinting • How this relates to Angelman Syndrome: • If the maternal copy of this gene is lost due to chromosomal change or gene mutation, there will be no active copies of this gene in some parts of the brain • 11% of cases are caused by this • 70% of cases occur when the maternal chromosome 15 is deleted • If a person inherits two copies of chromosome 15 from their father • Small percentage • Known as uniparental disomy • The causes of AS are unknown in 10 to 15 percent of affected individuals SIGNS OF AS • Delayed development • Intellectual disability • Severe speech impediment • Problems with movement • Problems with balance • Epilepsy • Small head size • Sleep disorders • Not all individuals diagnosed with AS have all of these characteristics TREATMENT • There is no cure for AS • Anti-seizure medication (anticonvulsants) • Physical therapy • Ankle braces/supports • Communication/speech therapy • Behavioral therapy • Individuals with AS require life-long care • Occupational therapy • Those with AS have a normal life expectancy RESEARCH • AS is often misdiagnosed as cerebral palsy or autism • Due to AS’s genetic relationship to autism and other disorders, many researchers believe that curing Angelman Syndrome will lead to cures for similar disorders • Research on AS is on the cusp of potential treatments to reverse the symptoms of AS RESEARCH*
Joseph Wagstaff Nicolay Walz
Boston Children’s Hospital Behavioral Aspects of Angelman Syndrome Melatonin and Sleep in Angelman Syndrome Cincinnati Children’s Hospital Helped lead to the established therapeutic use of Individuals with AS have abnormalities in sensory melatonin to help improve sleep in AS processing
1996 1997 1998 2008
Richard Olsen Chris Oliver
GABA beta3 Deficient Mice Establishing the Basic Principles of Effective Showed that the gene UBE3A is the major gene Intervention for Difficult Behavior in AS that when disrupted causes the seizures in AS University of Birmingham Differentiates AS from other types of genetic syndromes associated with intellectual deficiency
*This does not display all research done on AS
EVENTS
• May 19: ASF Walk
• August 6-7: Research Symposium • October 7: Bank of America Chicago Marathon MAVERICK WORK CITED: “Angelman Syndrome - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, May 2015, ghr.nlm.nih.gov/condition/angelman-syndrome#resources.
“What Is AS?” Angelman Syndrome Foundation, www.angelman.org/what-is-as/.
“Angelman Syndrome.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-
diseases/angelman-syndrome/.
“Angelman Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 2 Mar. 2018, www.mayoclinic.org/diseases-conditions/angelman-syndrome/diagnosis-treatment/drc-20355627. THANK YOU!