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World Journal of Pediatrics
Published in: World Journal of Pediatrics 1/2024

25-10-2023 | Tuberous Sclerosis | Review Article

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

Authors: Paolo Curatolo, Mirte Scheper, Leonardo Emberti Gialloreti, Nicola Specchio, Eleonora Aronica

Published in: World Journal of Pediatrics | Issue 1/2024

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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.
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Metadata
Title
Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?
Authors
Paolo Curatolo
Mirte Scheper
Leonardo Emberti Gialloreti
Nicola Specchio
Eleonora Aronica
Publication date
25-10-2023
Publisher
Springer Nature Singapore
Published in
World Journal of Pediatrics / Issue 1/2024
Print ISSN: 1708-8569
Electronic ISSN: 1867-0687
DOI
https://doi.org/10.1007/s12519-023-00762-2

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