Abstract
We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age 12 years of age at about 1–2 months/year based on age equivalent score and 1–16 growth score points/year depending on molecular subtype and domain. Children with a deletion have lower scores at baseline and slower rate of gaining skills while children with UBE3A variant subtype demonstrated higher scores as well as greater rates of skill attainment in all domains. The developmental profiles of UPD and ImpD were similar.
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Acknowledgments
We are deeply appreciative of all the individuals with AS and families who participated in this longitudinal study and contributed to these data. We are also grateful to the other site principal investigators (Steven Skinner, Carlos Bacino, Logan Wink) and all the study coordinators for their efforts in recruiting the participants for the study. We thank Ionis Pharmaceuticals for its financial support for statistical analyses. Ionis Pharmaceuticals had no role or influence in the collection or analyses of these data in any way. A special thanks to Erin Sheldon and Terry Jo Bichell for their detailed review of our manuscript.
Funding
This study was supported by NIH U54 RR019478 (awarded to Arthur L. Beaudet) from the National Center for Research Resources (NCRR) and NIH U54 HD061222 (awarded to Alan K. Percy) from the National Institute of Child Health and Human Development (NICHD), both components of the National Institutes of Health (NIH).
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All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by AG. The first draft of the manuscript was written by AS and AW and all authors commented on subsequent versions of the manuscript. All authors read and approved the final manuscript.
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AW has consulted with Ionis Pharmaceuticals. All other authors have no conflicts of interest to disclose.
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Sadhwani, A., Wheeler, A., Gwaltney, A. et al. Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III. J Autism Dev Disord 53, 720–737 (2023). https://doi.org/10.1007/s10803-020-04861-1
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DOI: https://doi.org/10.1007/s10803-020-04861-1