Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?

Area of Science:

• Neuroscience
• Genetics
• Developmental Biology

Background:

• Tuberous sclerosis complex (TSC) is a genetic disorder stemming from TSC1/TSC2 gene mutations.
• These mutations lead to mTOR pathway overactivation, impacting brain development.
• TSC is associated with epilepsy, intellectual disability, and autism spectrum disorder (ASD).

Purpose of the Study:

• To review preclinical studies on TSC, autism, and potential treatments.
• To identify biomarkers for early diagnosis and risk stratification in TSC infants.
• To explore therapeutic strategies for mitigating TSC-related neurodevelopmental outcomes.

Main Methods:

• PubMed search for peer-reviewed articles (2010-2023).
• Keywords included "tuberous sclerosis", "autism spectrum disorder", "animal models", "preclinical studies", "neurobiology", and "treatment".
• Analysis of prospective studies on TSC infant development.

Main Results:

• Developmental delays in motor, visual, and social communication skills are evident in the first year of life in TSC infants who develop ASD.
• Biomarkers (genetic, cellular, EEG, MRI) can identify pre-symptomatic TSC infants at high risk for ASD and epilepsy.
• Early diagnosis of TSC is increasingly possible in pre-symptomatic infants.

Conclusions:

• Early intervention in TSC infants is crucial.
• Preventing or treating epilepsy and tailoring autism therapies during sensitive developmental windows may reduce ASD symptoms.
• Biomarker identification enables proactive management of neurodevelopmental challenges in TSC.