Open AccessIs autism driven by epilepsy in infants with Tuberous Sclerosis Complex?
Author(s) -
Moavero Romina,
Kotulska Katarzyna,
Lagae Lieven,
Benvenuto Arianna,
Emberti Gialloreti Leonardo,
Weschke Bernhard,
Riney Kate,
Feucht Martha,
Krsek Pavel,
Nabbout Rima,
Jansen Anna C.,
Wojdan Konrad,
Borkowska Julita,
Sadowski Krzysztof,
Hertzberg Christoph,
Van Schooneveld Monique M.,
Samueli Sharon,
Maulisovà Alice,
Aronica Eleonora,
Kwiatkowski David J.,
Jansen Floor E.,
Jozwiak Sergiusz,
Curatolo Paolo
Publication year - 2020
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51128
Subject(s) - tuberous sclerosis , medicine , vigabatrin , pediatrics , autism , autism diagnostic observation schedule , epilepsy , autism spectrum disorder , bayley scales of infant development , epilepsy in children , intelligence quotient , psychiatry , anticonvulsant , psychomotor learning , cognition
Objective To evaluate the relationship between age at seizure onset and neurodevelopmental outcome at age 24 months in infants with TSC, as well as the effect on neurodevelopmental outcome of early versus conventional treatment of epileptic seizures with vigabatrin (80–150 mg/kg/day). Methods Infants with TSC, aged ≤4 months and without previous seizures were enrolled in a prospective study and closely followed with monthly video EEG and serial standardized neurodevelopmental testing (Bayley Scales of Infant Development and Autism Diagnostic Observation Schedule). Results Eighty infants were enrolled. At the age of 24 months testing identified risk of Autism Spectrum Disorder (ASD) in 24/80 children (30.0%), and developmental delay (DD) in 26/80 (32.5%). Children with epilepsy (51/80; 63.8%) had a higher risk of ASD ( P = 0.02) and DD ( P = 0.001). Overall, no child presented with moderate or severe DD at 24 months (developmental quotient < 55). In 20% of children abnormal developmental trajectories were detected before the onset of seizures. Furthermore, 21% of all children with risk of ASD at 24 months had not developed seizures at that timepoint. There was no significant difference between early and conventional treatment with respect to rate of risk of ASD ( P = 0.8) or DD ( P = 0.9) at 24 months. Interpretation This study confirms a relationship between epilepsy and risk of ASD/DD. However, in this combined randomized/open label study, early treatment with vigabatrin did not alter the risk of ASD or DD at age 2 years.