TY - JOUR
T1 - Early clinical predictors of autism spectrum disorder in infants with tuberous sclerosis complex: Results from the EPISTOP study
AU - Moavero, Romina
AU - Benvenuto, Arianna
AU - Gialloreti, Leonardo Emberti
AU - Siracusano, Martina
AU - Kotulska, Katarzyna
AU - Weschke, Bernhard
AU - Riney, Kate
AU - Jansen, Floor E.
AU - Feucht, Martha
AU - Krsek, Pavel
AU - Nabbout, Rima
AU - Jansen, Anna C.
AU - Wojdan, Konrad
AU - Borkowska, Julita
AU - Sadowski, Krzystof
AU - Hertzberg, Christoph
AU - Hulshof, Hanna
AU - Samueli, Sharon
AU - Benova, Barbora
AU - Aronica, Eleonora
AU - Kwiatkowski, David J.
AU - Lagae, Lieven
AU - on behalf of the EPISTOP Consortium
AU - Jozwiak, Sergiusz
AU - Curatolo, Paolo
PY - 2019/6/1
Y1 - 2019/6/1
N2 - Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD. This study aimed to identify the early clinical markers of ASD and/or developmental delay (DD) in infants with an early diagnosis of TSC. We prospectively evaluated 82 infants with TSC (6–24 months of age), using a detailed neuropsychological assessment (Bayley Scales of Infant Development—BSID, and Autism Diagnostic Observation Schedule—ADOS), in the context of the EPISTOP (Long-term, prospective study evaluating clinical and molecular biomarkers of EPIleptogenesiS in a genetic model of epilepsy—Tuberous SclerOsis ComPlex) project (NCT02098759). Normal cognitive developmental quotient at 12 months excluded subsequent ASD (negative predictive value 100%). The total score of ADOS at 12 months clearly differentiated children with a future diagnosis of ASD from children without (p = 0.012). Atypical socio-communication behaviors (p < 0.001) were more frequently observed than stereotyped/repetitive behaviors in children with ASD at 24 months. The combined use of BSID and ADOS can reliably identify infants with TSC with a higher risk for ASD at age 6–12 months, allowing for clinicians to target the earliest symptoms of abnormal neurodevelopment with tailored intervention strategies.
AB - Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD. This study aimed to identify the early clinical markers of ASD and/or developmental delay (DD) in infants with an early diagnosis of TSC. We prospectively evaluated 82 infants with TSC (6–24 months of age), using a detailed neuropsychological assessment (Bayley Scales of Infant Development—BSID, and Autism Diagnostic Observation Schedule—ADOS), in the context of the EPISTOP (Long-term, prospective study evaluating clinical and molecular biomarkers of EPIleptogenesiS in a genetic model of epilepsy—Tuberous SclerOsis ComPlex) project (NCT02098759). Normal cognitive developmental quotient at 12 months excluded subsequent ASD (negative predictive value 100%). The total score of ADOS at 12 months clearly differentiated children with a future diagnosis of ASD from children without (p = 0.012). Atypical socio-communication behaviors (p < 0.001) were more frequently observed than stereotyped/repetitive behaviors in children with ASD at 24 months. The combined use of BSID and ADOS can reliably identify infants with TSC with a higher risk for ASD at age 6–12 months, allowing for clinicians to target the earliest symptoms of abnormal neurodevelopment with tailored intervention strategies.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85114274534&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/31163675
U2 - https://doi.org/10.3390/jcm8060788
DO - https://doi.org/10.3390/jcm8060788
M3 - Article
C2 - 31163675
SN - 2077-0383
VL - 8
JO - Journal of clinical medicine
JF - Journal of clinical medicine
IS - 6
M1 - 788
ER -