We want to take a moment to acknowledge a recently published study that explores mortality risks in individuals with Angelman syndrome (AS). While this is a sensitive topic, it is an important step toward ensuring that individuals with AS receive the best possible care and preventive support.
Until 2018, the lack of a unique diagnosis code for AS (ICD-10: Q93.51) made it difficult to track comprehensive data on the health and life expectancy of individuals with AS. This study, which gathered data from community sources, registries, and natural history studies, highlights key areas where increased awareness and intervention can make a meaningful difference.
One of the most notable findings is the potential link between pneumonia and silent aspiration in individuals with AS, reinforcing the importance of monitoring swallowing difficulties and choking risks. With greater awareness, caregivers and clinicians can implement early interventions that may reduce health risks and improve quality of life.
Preventive Resources and Support
To help families and caregivers stay informed and proactive, here are some key resources available:
✅ Standards of Care for Angelman Syndrome – The AS Standards of Care provide expert-driven guidelines on best practices for medical care, therapy, and long-term management. These recommendations help families and healthcare providers make informed decisions to support the well-being of individuals with AS.
✅ Seizure Management – Since epilepsy is common in AS, ensuring proper treatment and monitoring can help reduce seizure-related risks. The ASF Seizure Toolkit provides guidance on managing epilepsy in AS.
✅ Family Resources & Clinical Support – There are multiple clinics around the world that provide expert care tailored to individuals with AS, offering guidance on health monitoring and preventive care strategies. Check with your local AS organization to learn more about the clinics and resources that are close to you.
For an overview of this study and its key findings, please refer to the family-friendly report here.
While discussions about health risks can feel overwhelming, our goal as a community is to empower families with knowledge and support so that every individual with AS can thrive. With continued research, advocacy, and improved medical awareness, we can work toward better care, increased longevity, and a brighter future for all.
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