Tuberous Sclerosis Complex
TSC Remote Assessment and Intervention (TRAIN)
Posted May 13, 2020
Connie Kasari, Ph.D., University of California, Los Angeles
Most children with tuberous sclerosis complex (TSC) suffer from neurodevelopmental disabilities, including intellectual disability, neuropsychological deficits, and autism spectrum disorder (ASD). A large prospective study that followed infants with TSC in the first 3 years of life showed that infants with TSC had developmental delays that were specific to non-verbal communication skills as early as age 6 months, skills that are important for the development of social functioning. Moreover, by 12 months of age, developmental delays, particularly in non-verbal communication, predicted the development of ASD.
The Tuberous Sclerosis Complex Research Program (TSCRP) has funded two clinical studies aimed at improving attention, cognition, and communication in children with TSC.
The first study, funded by a Fiscal Year 2014 (FY14) TSCRP Pilot Clinical Trial Award to Dr. Shafali Jeste, examined the effects of the intervention JASPER (Joint Attention; Symbolic Play, Engagement, and Regulation) on primary (joint engagement) and secondary (joint attention, play, cognition, and parent use of social communication support strategies) outcomes in infants with TSC. JASPER, designed by Dr. Connie Kasari, a world expert in behavioral intervention for autism, is a therapist- and parent-mediated intervention that (1) targets the foundations of social communication, (2) uses naturalistic behavioral strategies to increase the rate and complexity of social communication, and (3) includes parents as implementers of the intervention to promote generalization across settings and to ensure maintenance. Data from this small study showed that infants exhibited improvements in their developmental skills after JASPER and also made substantial gains in their development at a rate not seen in infants who had not received this targeted early intervention.
The promising data from this small study led to a large, National Institutes of Health-funded, randomized, and controlled trial of JASPER in infants with TSC. However, enrollment in this study has been limited due to the time, expenses, and inconvenience to attend in-person sessions.
To overcome these barriers, Dr. Kasari, recently was awarded an FY19 TSCRP Clinical Translational Research Award - Pilot Clinical Trial to further assess the JASPER intervention using a remote training program. This intervention, called TSC Remote Assessment and Intervention (TRAIN), builds on the previous work and adds innovation by continuing to assess the impact of JASPER on caregivers and children while moving to a 100% remote intervention after an initial in-person consultation. The proposed study will test an adapted version of the caregiver-training version of JASPER, where the entire training is provided remotely through weekly teleconferences and video feedback. The overall goal of this study is to determine if remote caregiver training can improve social engagement and communication between caregivers and their child with TSC.
This work has the potential to improve access to an evidence-based, effective early intervention for families with a child with TSC. Moving to a fully remote model would offer the opportunity to a wider range of families by addressing financial and distance barriers and provide a great benefit to the TSC community.
Last updated Wednesday, May 13, 2020