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Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration.

Marian E Williams¹, Deborah A Pearson², Jamie K Capal³

¹University of Southern California.

The American Psychologist

|April 5, 2019

Summary

Researchers identified early biomarkers for autism spectrum disorder (ASD) in infants with tuberous sclerosis complex (TSC). This collaborative study also examined seizures, development, and epilepsy in young children with TSC.

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Area of Science:

Neuroscience
Developmental Pediatrics
Genetics

Background:

Tuberous Sclerosis Complex (TSC) is a genetic disorder associated with increased risk of neurodevelopmental conditions, including autism spectrum disorder (ASD).
Early identification of biomarkers for ASD in infants with TSC is crucial for timely intervention.
Longitudinal research is needed to understand the complex interplay of neurological, developmental, and behavioral factors in TSC.

Purpose of the Study:

To identify early biomarkers for autism spectrum disorder (ASD) in infants with tuberous sclerosis complex (TSC).
To investigate the relationship between seizures and early development in infants and young children with TSC.
To explore early biomarkers for epilepsy and developmental delay in this population.

Main Methods:

A 6-site collaborative network (TACERN) conducted longitudinal research.
Multidisciplinary teams (psychology, neurology, pediatrics, genetics, speech-language pathology) assessed neurological status, brain structure/function, and neurodevelopmental phenotype.
Data collection focused on behavioral challenges, seizures, and developmental trajectories.

Main Results:

Identification and measurement of early symptoms indicative of ASD in infants with TSC.
Established correlations between seizure activity and early developmental outcomes.
Identified potential early biomarkers for epilepsy and developmental delay in young children with TSC.

Conclusions:

The TACERN network successfully facilitated collaborative research on TSC and ASD.
Key insights were gained into early ASD symptoms, seizure-development relationships, and biomarkers for epilepsy/delay in TSC.
Lessons learned from this multisite collaboration inform future research and clinical training for TSC-related neurodevelopmental disorders.