A Promising Early Intervention for TSC linked Autism in Infants

Posted March 2, 2018
Shafali Jeste, M.D., University of California, Los Angeles

Shafali Jeste, M.D., University of California, Los Angeles
Shafali Jeste, M.D.

Autism spectrum disorder (ASD) occurs in approximately one-half of children with tuberous sclerosis complex (TSC). Because of the frequency of other medical and neurodevelopmental challenges early in infancy, such as epilepsy and global developmental delays, autism is often diagnosed later in TSC, making early interventions a huge challenge. However, because infants are diagnosed with TSC before the onset of autism, there is tremendous opportunity in studying signs of autism early in infancy in order to guide early interventions. The Tuberous Sclerosis Complex Research Program (TSCRP) has funded two groundbreaking consecutive studies examining ASD in infants with TSC. The first study, a Fiscal Year 2010 Clinical Research Award led by Dr. Charles Nelson at Boston Children’s Hospital in collaboration with Dr. Shafali Jeste at the University of California, Los Angeles, focused on early development and autism predictors in TSC. This led to a second study of early intervention in TSC, which was funded by a Fiscal Year 2014 Pilot Clinical Trial Award and led by Dr. Jeste in collaboration with Dr. Nelson.

The original project led by Dr. Nelson demonstrated that infants with TSC who develop autism do, in fact, show delays in social and communication skills as early as 6 months of age, with clear signs apparent by 9 months of age. Based on these findings, Dr. Jeste designed the pilot clinical trial to improve social skills in infants with TSC before they develop autism. The study investigators used a well-validated behavioral experimental intervention, called JASPER (Joint Attention; Symbolic Play, Engagement, and Regulation), which had already been shown to improve outcomes in children with autism. JASPER was developed by Dr. Connie Kasari, a collaborator and world’s expert in behavioral intervention for autism. They examined the effects of this intervention on primary (joint engagement) and secondary (joint attention, play, cognition, and parent use of social communication support strategies) outcomes, as well as brain function through EEG in infants with TSC to determine if brain changes might predict changes in behavior. Dr. Jeste states, “We developed an innovative study that combines behavioral and brain-based measures to study outcomes with this early intervention. We found that infants showed improvements in their developmental skills after JASPER, and they made substantial gains in their development at a rate not seen in infants not receiving this targeted early intervention.” This pilot clinical trial was the first study of early intervention in TSC, and its successes have since led to a large, National Institutes of Health-funded, randomized, and controlled trial of JASPER in infants with TSC (NICHD RO1, PI Jeste,

Dr. Jeste states that her team’s goal is to understand not only whether the intervention works, but exactly how it works by studying changes in both brain function and behavior. Moreover, the team hopes to identify predictors of response to treatment. At its close, the clinical trial’s findings will help make specific recommendations for parents of TSC infants regarding early intervention. Dr. Jeste shares, “Our ultimate goal is to improve outcomes and prevent autism in TSC, and this research is making this goal into a reality.”


Public and Technical Abstracts: Early Behavioral Intervention to Improve Social Communication Function in Infants with TSC

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Last updated Friday, March 2, 2018