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

Paolo Curatolo¹, Mirte Scheper², Leonardo Emberti Gialloreti³

¹Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, Rome, Italy.

World Journal of Pediatrics : WJP

|October 25, 2023

Abstract

Background:

Tuberous sclerosis complex (TSC) is a genetic disorder caused by inactivating mutations in the TSC1 and TSC2 genes, causing overactivation of the mechanistic (previously referred to as mammalian) target of rapamycin (mTOR) signaling pathway in fetal life. The mTOR pathway plays a crucial role in several brain processes leading to TSC-related epilepsy, intellectual disability, and autism spectrum disorder (ASD). Pre-natal or early post-natal diagnosis of TSC is now possible in a growing number of pre-symptomatic infants.

Data Sources:

We searched PubMed for peer-reviewed publications published between January 2010 and April 2023 with the terms "tuberous sclerosis", "autism", or "autism spectrum disorder"," animal models", "preclinical studies", "neurobiology", and "treatment".

Results:

Prospective studies have highlighted that developmental trajectories in TSC infants who were later diagnosed with ASD already show motor, visual and social communication skills in the first year of life delays. Reliable genetic, cellular, electroencephalography and magnetic resonance imaging biomarkers can identify pre-symptomatic TSC infants at high risk for having autism and epilepsy.

Conclusions:

Preventing epilepsy or improving therapy for seizures associated with prompt and tailored treatment strategies for autism in a sensitive developmental time window could have the potential to mitigate autistic symptoms in infants with TSC.

Insights

Early diagnosis of tuberous sclerosis complex (TSC) allows for the identification of infants at high risk for autism spectrum disorder (ASD). Prompt, tailored treatments targeting epilepsy and ASD symptoms can mitigate developmental delays in TSC patients.

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.

Read full analysis

Keywords:

Animal model Autism spectrum disorders Developmental and epileptic encephalopathy Mechanisms Risk Tuberos sclerosis complex mTOR

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