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Typical characteristics of AS are not usually evident at birth. Individuals with this disorder may have feeding difficulties as infants and noticeable delayed development around 6-12 months of age. They need intensive therapies to help develop functional skills. AS affects every race and both genders. It is often misdiagnosed as autism or cerebral palsy.
People with Angelman syndrome often have unique behavioral characteristics, including a happy demeanor, characterized by frequent laughing, smiling and excitability. Many individuals with AS have an affinity for water and take great pleasure in water-based activities like swimming and bathing. It is important to note that Angelman syndrome is a spectrum disorder and as such, not all individuals exhibit the same behavioral characteristics or preferences.
There are different types of testing to determine if your child has Angelman syndrome. We provide information for parents and individuals that do not have a working knowledge of genetics but would like to understand what tests are available and what they mean.
The journey to Angelman syndrome diagnosis is not always easy. There is not a definitive age when diagnosis is made, but thanks to scientific advancements and diligent infant screenings, diagnosis is occurring earlier and sooner. The presentation of Angelman syndrome varies by individual and genotype.
mRNA is the FedEx of the body. Our DNA uses mRNA as a delivery service to send blueprints to the protein-assembly factories of our cells. People with AS have a mutation, deletion or other defect in their UBE3A gene that interrupts this delivery service. As a result, their neurons do not make any functional UBE3A protein, and that’s what triggers the symptoms of AS. This protein is what helps us walk, talk and perform other everyday tasks.
In most cases, Angelman syndrome isn’t inherited – particularly those caused by a deletion or UPD. Instead, these genetic changes occur as random events during the formation of reproductive cells or in early embryonic development.
In typical individuals, UBE3A is expressed from both the paternal (blue) and maternal (magenta) chromosomes 15 in most tissues. In neurons, the paternal UBE3A allele is silenced by the process of genomic imprinting. As a result, only the maternal UBE3A allele is expressed in neurons from typical individuals.
Genetic mosaicism is an extremely rare genotype of Angelman syndrome where a small proportion of the body’s cells are expressing UBE3A. A person with mosaicism has a mixture of fully expressing and non-expressing UBE3A DNA in the cells of the body. Most reported cases have an estimated 5-20% of cells that have maternal expression, though between 1-40% are reported.
Welcome to an amazing community that you never wanted to be part of.
As you begin your journey through the diagnosis of your loved one, please know that we are here for you with resources and community support, when you are ready.
Until then, we invite you to explore the information below. We are standing by to answer your questions!
Whether you are newly diagnosed, or have been on this journey for years, being able to recognize a seizure, properly communicate symptoms to your child’s medical provider, and knowing best practices for treating seizures in AS will be your best defense in ensuring the safety and health of your child.
If your child has recently received the diagnosis of AS, speak to your medical provider about adding a neurologist to your medical team, scheduling a baseline EEG (electroencephalogram) and creating a Seizure Action Plan so you are informed and prepared in the event your child develops epilepsy.
For emergency seizure support, we encourage families and providers to reach out to the Epilepsy and Seizures 24/7 helpline through the Epilepsy Foundation for high-quality care for your loved one.
