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Improving Developmental Abilities in Infants With Tuberous Sclerosis Complex: A Pilot Behavioral Intervention Study
Nicole M McDonald1, Carly Hyde1, April Boin Choi1
1UCLA Semel Institute for Neuroscience and Human Behavior, Los Angeles, California (Dr McDonald, Gulsrud, Kasari, and Jeste and Ms Hyde); Harvard Graduate School of Education, Boston, Massachusetts (Ms Choi); and Boston Children's Hospital, Harvard University, Boston, Massachusetts (Dr Nelson).
Insights
Early behavioral intervention for Tuberous Sclerosis Complex (TSC) shows promise. A pilot study found parent-mediated play interventions helped young children with TSC maintain or improve developmental skills.
Area of Science:
- Neurodevelopmental Disorders
- Genetics and Rare Diseases
- Pediatric Behavioral Intervention
Background:
- Tuberous Sclerosis Complex (TSC) is a genetic disorder associated with neurodevelopmental issues like autism spectrum disorder and intellectual disability.
- Early delays in social communication and cognition are evident in infants with TSC by 9 months of age.
- No prior studies have investigated early behavioral interventions for children with TSC.
Purpose of the Study:
- To pilot an evidence-based, parent-mediated behavioral intervention for young children with TSC.
- To assess the feasibility and preliminary efficacy of the intervention in improving social communication and play skills.
Main Methods:
- A pilot study involving 5 children with TSC, aged 1-3 years.
- Implementation of an evidence-based, parent-mediated behavioral intervention focused on play and social communication.
- Assessment of intervention fidelity and developmental outcomes.
Main Results:
- Children with TSC maintained or improved developmental abilities relative to peers post-intervention.
- Parents reported the intervention as helpful and demonstrated high fidelity in its administration.
- The study indicates the feasibility of early, play-based, parent-mediated interventions in TSC.
Conclusions:
- An early play-based, parent-mediated intervention appears feasible for children with TSC.
- Preliminary findings support the potential benefits for social communication and play skills.
- A large-scale, randomized clinical trial is warranted to confirm efficacy in TSC.
Abstract:
Tuberous sclerosis complex (TSC) is a rare genetic syndrome that confers risk for neurodevelopmental disorders, including autism spectrum disorder and intellectual disability. Delays in social communication and early cognitive abilities are observable as early as 9 months of age in children with TSC; however, there have been no studies of early behavioral intervention in TSC. We conducted a pilot study of an evidence-based, parent-mediated behavioral intervention focused on improving early social communication and play skills in 5 children with TSC (aged 1-3 years). Participants showed maintenance and sometimes gains in developmental abilities, relative to peers, following intervention. Parents generally found the intervention to be helpful and were able to administer the intervention with fidelity. Preliminary results demonstrate initial feasibility of an early play-based, parent-mediated intervention and support the need for a large-scale, randomized clinical trial in TSC.
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