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FAST and the Angelman Syndrome Biomarker and Outcome Measure Consortium (ABOM) supported this publication with a tremendous amount of data collected over the last 13+ years in 257 individuals living with Angelman syndrome (AS). Congratulations to the authors and the families that participated in this incredibly important study! These data were collected from the ongoing AS Natural History Study (NHS).
The Vineland-II (VABS-II) is an assessment that measures skills in key areas of importance to AS individuals and their caregivers: communication, daily living skills, socialization, and motor skills (gross and fine motor). This tool helps to document where our loved ones are thriving, where they may need more support, and what the natural trajectory of skill acquisition is over time. This is important for therapeutics being tested in clinical trials. By showing a clear change from the baseline trajectory of skill acquisition, companies and clinicians can better understand if a drug is working.
Understanding the adaptive skills in AS, the genotype-specific measurements in those acquired skills, and the expected developmental trajectory without any type of effective and meaningful therapeutic is crucial when formulating interventional strategies and designing clinical trials. Measuring improvements in adaptive skills is part of understanding the steps toward a gain of independence. There is nothing we all want more for our loved ones living with AS than to become more independent over time.
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