About this Survey


Valerie A. Arboleda, MD, PhD and Stanley Nelson MD, from the Department of Pathology and Laboratory Medicine at the University of California, Los Angeles (UCLA) are conducting a research study on rare neurodevelopmental syndromes due to histone modifiers, such as KAT6A.

Why is this study being done?

The purpose of this study is to better understand the behavioral and cognitive patterns exhibited by children with mutations in genes that cause a spectrum of genetic syndromes with global developmental delay. We hope to better understand the developmental phenotypes, behavioral, and cognitive difficulties in rare neurodevelopmental disorders caused by mutations in histone modifiers, such as lysine(K) acetyltransferase 6A (KAT6A) and related histone modifying genes. This may ultimately lead us to design and evaluate more effective screening measures for behavioral and cognitive difficulties in patients with rare neurodevelopmental disease.

What does participation in the study require?

This study is an online survey for individuals who have a genetic mutation in a chromatin modifier gene, including KAT6A. In this study, parents or legal guardians of individuals with KAT6A mutations will be asked to complete 6 online surveys: one survey on various developmental milestones and medical issues the individual has encountered and 5 surveys on behavioral and emotional development.

We expect that the time to completion is approximately 2-3 hours and that the surveys can be saved at any point and completed at a later time.

All individuals, regardless of age, are eligible to complete the survey “Development and medical issue in KAT6A individuals” should be completed first. Results will be sent to researchers for further analysis in comparison with other KAT6A individuals.

Are there any potential risks or discomforts that I can expect from this study?

There are no anticipated risks or discomforts. There is a possibility of a breach of confidentiality, however we use secure and encrypted networks to minimize this risk.

Are there any potential benefits if I participate?

You may benefit from the study by receiving information about your child’s behavioral and emotional functioning. Analysis from data gathered here will be presented to clinicians and patient families to help identify and better treat individuals with rare genetic mutations. It is possible that you may not directly benefit from the participation in the research.

The results of the research may help researchers learn about the behavioral and cognitive patterns in KAT6A and other rare genetic mutations. These may ultimately allow us to develop improved treatments for neurodevelopmental problems in rare disease.

3% of survey complete.