Link to Article: https://pubmed.ncbi.nlm.nih.gov/38879552/
Progress on developmental milestones and daily living skills was evaluated through caregiver reports administered during each visit to the AS Natural History Study. These reports captured whether specific milestones in gross motor, fine motor, and expressive language were achieved, along with the age at which these developments occurred. Additionally, key daily living skills, such as toileting, bathing, and feeding, were assessed at a later stage in the study, so not all participants had responses.
The acquisition of various milestones and skills was analyzed by age and genotype to understand variability across these groups. The recently published article reports that certain developmental milestones, such as the ability to walk with support by the age of 5, were likely to be achieved by almost all individuals, regardless of genotype. However, some skills were highly dependent on genotype. For instance, the probability of brushing teeth with assistance was 85% for individuals with a mutation genotype at age 15, compared to only 13% for those with a Class I deletion at the same age. Most developmental milestones, particularly those involving fine and gross motor skills, were achieved at a later age for individuals with a deletion genotype compared to those with non-deletion genotypes.
Overall, this research highlights the essential role of studies like the NHS in revealing how the presentation of AS changes over time and the influence of genotype on these changes. Understanding what is typical in development in Angelman syndrome enables researchers and industry partners to identify the most appropriate outcomes for future research and clinical trials.
The current NHS effort (2023-2025) is funded by a collaborative group of advocacy and industry members of the Angelman Biomarker and Outcome Measure (A-BOM) Consortium.
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