What is TSC?
Tuberous Sclerosis Complex (TSC) is a genetic disorder caused by mutations in either the TSC1 or TSC2 genes. The genetic variation results in the growth of non-malignant tumors throughout the body. Neurodevelopmental disorders, including global developmental delay, intellectual disability, and autism spectrum disorder (ASD) are very common in children with TSC, although developmental outcomes can vary widely. Our group, over the past several years, has been studying infants and young children with TSC, and we have found that developmental delays can be identified in the first year of life, and that these delays and differences can predict a diagnosis of ASD. Currently, there is no specific treatment for the neurodevelopmental disorders associated with TSC. Based on this information, we now want to know if early intervention can help to improve development and prevent ASD in children with TSC.
What are we investigating in the JETS study?
We are studying the effects of early behavioral intervention on developmental outcomes in infants and toddlers with TSC. We focus on social-communication skills, as these are tightly linked to the development of ASD.
The overarching goal of our research is to improve outcomes in infants with TSC by conducting rigorous, innovative research in treatment, using both brain and behavioral measures to study the effects of treatment.
How do I participate in JETS?
None of this work would be possible without the generous involvement of the families who participate in our study. We are currently recruiting infants and toddlers with TSC to participant in our study. If you have a child between the ages of 12-36 months with a clinical diagnosis of TSC, you may be eligible to participate in this study. If your child is not yet 12 months, you may still begin the enrollment process.Please contact our study coordinators to learn more!
What does participation in the study involve?
We recognize that participants from around the country are interested in participating in our research study! Therefore, we are now conducting our intervention remotely using video conferencing. Participation requires six visits to the research site (UCLA or Boston Children's Hospital) over 15-21 months, with four of these visits will occur over 3 months. Visits will include behavioral assessments, intervention, or both. Because this behavioral intervention is parent-mediated, a primary caregiver must be available to attend these sessions.
JASPER behavioral intervention consists of 12 consecutive weekly sessions. Four of these intervention sessions will occur in person, and the remainder will take place remotely using video conferencing. Each week, you will record a video of yourself practicing intervention skills with your child using an iPad (provided for the duration of the intervention). The video will be uploaded for review by an interventionist. You will then receive weekly feedback from the interventionist through video conferencing.
Four in-person visits will include a behavioral assessment, and will take place before entry into behavioral intervention, after exiting intervention, and at 3- and 12-month follow up visits. Behavioral assessments generally take up to 4 hours to complete, and are completed over one or two days. This study also uses research EEG. This non-invasive assessment generally takes 30-45 minutes to complete. After your first assessment, your child will be randomly assigned to receive treatment either immediately or in 6 months, with behavioral assessments throughout. Your family will be in the study for a duration of 15-21 months, depending on randomization. If you are not able to commit to this time, please contact our study coordinators to find out if you can still be involved in our research!
What are the potential risks and benefits of participation?
- There are no anticipated risks from this study, although it is possible that your child may react negatively to some of the assessment measures or intervention sessions. For example, at the most extreme, your child may be fearful of an age-appropriate toy and may cry or physically pull back from the toy. If this should occur, that particular toy presentation, assessment or intervention will be stopped.
- Sometimes the EEG net can feel uncomfortable, especially if children do not like wearing hats or having anything touch their heads. Because of this, we have provided you with the demonstration (“practice”) net to use with your child before his/her session. At any time during the session if your child becomes too upset or agitated, we will stop the session.
- Loss of confidentiality is a risk of participating in this research study. As described below, we will do all that we can to keep your participation in this research study confidential.
- You may benefit from the intervention by receiving detailed information about your child’s cognitive, language, and communication skills both before the intervention begins and after the intervention is completed. Your child also may benefit from the intervention itself, which is aimed at improving social communication skills in infants and toddlers at high risk for neurodevelopmental disorders.
- You will receive written feedback on your child’s performance on the behavioral assessments administered during assessment time point 4. These assessments are used for research purposes and therefore are not comprehensive clinical evaluations. Some of the assessments administered will measure social communication skills relevant to Autism Spectrum Disorder (ASD), and the feedback letter will report whether the assessment indicated the possible presence of ASD.
- The results of the research may also contribute to the broader TSC and autism fields by enhancing our knowledge of the effects of early intervention on social communication skills in TSC. Benefits that you and your child may derive from the intervention may lead to greater benefits for all children with autism and/or TSC.
Frequently Asked Questions
Are you currently enrolling participants?
Yes! Enrollment for our study is ongoing, which means if your child falls between 12 and 36 months at the time of enrollment, your family may be eligible to begin the study. If your child is not yet 12 months, we encourage you to contact our research team to begin the study when they age in.
Where does the study take place?
Research sites are located at UCLA in Los Angeles and Boston Children's Hospital. You and your child will need to visit the research site 6 times over 18-21 months. 8 weekly intervention sessions will occur remotely using video conferencing.
We are now offering remote intervention to all participants! We also provide parking and child care for every visit, and reimbursement for some travel expenses. Please contact the study team to find out more!
How involved are the caregivers?
JASPER intervention is a parent-mediated therapy, which means that part of the weekly intervention session will include hands-on training to teach caregivers how to implement the social communication strategies at home. Caregivers will also have weekly phone calls with interventionists to discuss successes and challenges of at-home intervention.
What happens when I enroll?
Once you decide to enroll in the study, you'll first come to the research site for your child's entry assessment, which includes behavioral testing, parent questionnaires, and EEG. At your first assessment, you will be randomized to either an immediate treatment group or a 6-month waitlist treatment group. Both groups will receive 12 weeks of intervention (in-person and remote) and 4 behavioral assessments (in-person).
What if my family cannot accommodate the travel commitment?
If your family is unable to commit to 6 in-person visits to the research site in Los Angeles or Boston and 8 remote intervention sessions, you can still be involved in the study through a single visit to a research site! Please contact the research team to find out how.
What is EEG?
An electroencephalogram (EEG) is used to measure the electrical activity of the brain. We use this tool to see if your child's brain activity changes with intervention!
A research EEG session is different from a clinical EEG. Our nets fit like a swim cap, and take about 5-10 minutes to apply. EEG is painless and noninvasive, and while the electrodes may feel strange, they only record activity and do not produce any sensation or electricity.