Wilson Motor Lab update

November 2022

The Wilson Motor Lab at UCLA conducted a study of 18 individuals with ASXL syndromes at the ARRE Foundation's ASXL Family Conference in July. Here's an update from the research team based on the data they collected:

The Wilson Motor Lab focuses on analyzing and describing the motor profile across many Neurodevelopmental Disabilities and Neurogenetic Conditions. During the ARRE Foundation conference this past summer, Dr. Rujuta Wilson’s research team evaluated 9 individuals with ASXL1 and 9 individuals with ASXL3 in the conference research room. The parents and individuals participated in a comprehensive medical background form, two parent checklists based on development and movement, a neurologic examination, and quantitative gait analysis. The goal of our study is to better understand the motor development and phenotype for individuals with these two specific genetic conditions, and to examine whether there is an association between the motor changes and associated neurodevelopmental diagnoses.

In our study, the average age of first developmental concerns was 3 months in ASXL1, and 8 months in ASXL3. Motor difficulties were prevalent across all individuals with both ASXL1 and ASXL3, including those individuals with and without an autism diagnosis. There was a combination of hypertonia and hypotonia among individuals with ASXL1, with poor postural control and a slower gait. Individuals with ASXL3 demonstrated greater variability in their motor skills. The motor difficulties noted in both conditions negatively impacted engagement in school-based activities.

This research can greatly help us and other clinician scientists better understand the motor and developmental phenotype of individuals with ASXL1 and ASXL3. Our results highlight that individuals with both conditions should be thoroughly screened for motor difficulties, including a potential presentation of both high (spasticity) and low (hypotonia) tone. Screening for motor issues that impact school function should also occur to help support individuals in educational programs. With our data we hope to improve appropriate clinical diagnoses, referral to interventions, and be used as potential endpoints for future clinical trials. These findings were submitted as an abstract for a leading autism research conference in May 2023, and are being compiled as a manuscript for a pediatric neurology journal. Our lab hopes to engage in continued research for these and other individuals with ASXL1 and ASXL3, through future neurodevelopmental testing (such as the ADOS) and follow-up assessments.

Thank you to the study co-authors for their work. They include Maya Ayoub, MD, EdM, Jeff Anderson, BS, and Rujuta Wilson, MD, MS. And thank you to the 18 families who participated in this study!

For additional information on other research studies currently enrolling participants, visit the Current research page.