Angelman Syndrome Life Expectancy: Understanding the Facts and Considerations
Health and Development in Angelman Syndrome
Individuals living with Angelman syndrome are typically healthy at birth, with no birth defects or significant issues during infancy. However, developmental delays may become apparent within the first year of life. The absence of UBE3A in the brain does not seem to affect the function of a person’s other organs, like their heart or kidneys.
Does Angelman Syndrome Affect Life Expectancy?
A common question from families is, "Does Angelman syndrome affect life expectancy?" Researchers have not yet performed a long-term, large study or a population-based study to calculate an exact average. This is partially because the true incidence (how common AS is) is not known. Historically, life expectancy was assumed to be normal, and we personally know many individuals living with AS who live a typical lifespan. Adults living with AS may experience common health conditions that any individual can experience, but AS is not known to increase the risk for additional organ-specific health issues. For example, heart, kidney, and liver function are all expected to be normal, and there is no known increased risk for cancer or tumors.
Factors That May Influence the Life Expectancy of Someone Living with Angelman Syndrome
Though many individuals living with Angelman syndrome can live a typical lifespan, there are factors that may potentially impact the lifespan in AS. A study was recently published that collected data from social media, the AS community, the AS natural history study, and the Global Angelman Syndrome Registry to describe the reported causes of death in AS. This study included about 220 deaths reported in the AS community between 1979 and 2020. The researchers found that the leading causes of death over all ages was pneumonia/respiratory illness, accidents, seizures, sudden unexpected death in sleep (SUDS), and cancer. The most common cause of death varied in different age groups, with seizures and accidents more common in young children and cancer more common in older adults.
The findings from this study are consistent with data from other individuals with intellectual disabilities having an increased risk for accidents, which may be further increased in AS because of motor and speech difficulties. Because feeding abilities may be affected by AS, choking and aspiration (food or liquid being breathed into the lungs, which can cause pneumonia) are also potential risks.
You can read a family-friendly summary of this paper and its key findings. The full paper is also available. Because of how the study captured data, this research cannot tell us the expected lifespan of individuals living with AS, but it can provide insights that can inform early intervention and prevention strategies.
Work with Your Healthcare Providers to Minimize Risks for Individuals Living with Angelman Syndrome
Parents and caregivers can help reduce some risks associated with AS by working with their loved one’s health care teams.
Seizure management: Since seizures are common in AS, ensuring proper treatment and monitoring can help reduce seizure-related risks.
Safe environment: Work with healthcare providers like physical, occupational, and speech therapists to help promote a safe environment, enable the use of safety equipment when needed, and reduce the risk of accidents or choking.
Standards of care for AS: For more information about general care for individuals living with AS, review (or share with your loved one’s medical team) the published standards of care for AS. You may also consider visiting an AS specialty clinic, to get expert guidance on health monitoring and preventative care strategies.
FAST Cares About Every Individual Living with Angelman Syndrome.
Each person living with Angelman syndrome is unique, and it is impossible to predict specific health outcomes or life expectancy precisely. Here at FAST, we will continue to work towards transformative therapies for all individuals living with AS, in hopes of reducing any risks or complications and enabling long, happy, healthy, productive, and fulfilling lives for all our loved ones living with AS.
To learn more about FAST’s efforts to #cureangelman, click here: Angelman Syndrome Clinical Trials | FAST (cureangelman.org)