Autism Spectrum Disorder in Tuberous Sclerosis: The preventive value of early detection
Journal Title: Biomedicine & Prevention - Year 2017, Vol 2017, Issue 1
Abstract
Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder that may affects almost all organs and systems and is associated with a range of neuropsychiatric manifestations, including epilepsy, intellectual disability and autism. TSC is one of the syndromic forms most strongly associated with a high prevalence rate of autism spectrum disorder (ASD). Potential risk factors for this association include TSC2 gene mutations, more severe structural brain abnormalities, and early onset and persistent seizures. Prenatal diagnosis of TSC is now possible through the detection of cardiac rhabdomyomas and cortical tubers in a growing number of pregnancies, allowing therefore an early identification of infants at high risk of developing ASD and epilepsy. In these patients, a deviation from normal developmental trajectories can be evident already at 12 months, with a significant decline in non-verbal abilities. Early age at seizure onset is the only independent factor for poor neurodevelopmental outcome, and prompt detection and treatment of both epileptiform EEG abnormalities and clinical seizures could be the only preventable factor to modify the outcomes. Seizures are preceded by a latent period of epileptogenesis, and EEG biomarkers can be successfully used to define the high risk group, since almost all infants with EEG abnormalities will consequently develop epilepsy. Clinical trials are already in progress to investigate the efficacy and safety of vigabatrin and mTOR inhibitors for secondary prevention of ASD in infants and children with TSC.
Authors and Affiliations
Arianna Benvenuto, Martina Siracusano, Federica Graziola, Sara Marciano, Leonardo Emberti Gialloreti, Luigi Mazzone, Romina Moavero, Paolo Curatolo
Keywords
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- EP ID EP334963
- DOI 10.19252/00000004F
- Views 138
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