ASXL Puberty Survey

Dr. Bianca Russell and her colleagues at UCLA, including Amanda Piring and Dr. Rebecca Hicks, are studying puberty in individuals with changes in ASXL1 (Bohring-Opitz Syndrome), ASXL2 (Shashi-Pena Syndrome), or ASXL3 (Bainbridge-Ropers Syndrome). This study is open to anyone with an ASXL syndrome and does not have an age limit. 

The research team is studying how puberty impacts people with an ASXL syndrome. The study will include one 10-20 minute electronic survey to be completed by a parent/caregiver. It includes medical reference photographs of developing body parts. Please complete this survey in a setting where it is appropriate to review these images. 

An optional part of this survey is providing additional medical records that may be helpful to our understanding of your child’s growth and development such as bone age x-rays, MRIs (Brain and/or Pituitary/Sella), ultrasounds, and any growth charts.

Note: You must be enrolled in the ASXL Registry to participate in the puberty study. To enroll, check your enrollment status in the ASXL Registry, or to inquire about participating in the ASXL Puberty Survey, please email asxl-chromatin-registry@mednet.ucla.edu.