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Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy
Child Neurology Unit, Neuroscience and Neurorehabilitation Department, “Bambino Gesù” Children’s Hospital, IRCCS, P.zza S. Onofrio 4, 00165 Rome, Italy
Department of Biomedicine and Prevention, Tor Vergata University of Rome, Via Montpellier 1, 00133 Rome, Italy
Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, 67100 L’Aquila, Italy
Department of Neurology and Epileptology, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland
Department of Child Neurology, Charité University Medicine Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
Neuroscience Unit, Queensland Children’s Hospital, 501 Stanley Street, South Brisbane, QLD 4101, Australia
School of Clinical Medicine, University of Queensland, St Lucia, QLD 4072, Australia
Department of Child Neurology, Brain Center, University Medical Center Utrecht, 3584 Utrecht, The Netherlands
Department of Pediatrics, University Hospital Vienna, 1090 Vienna, Austria
Motol University Hospital, Charles University, 150 06 Prague, Czech Republic
Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker- Enfants Malades Hospital, University Paris Descartes, Imagine Institute, 75015 Paris, France
Pediatric Neurology Unit-UZ Brussel, 1050 Brussels, Belgium
Warsaw University of Technology, Institute of Heat Engineering, 00-661 Warsaw, Poland
Transition Technologies, ul. Pawia 5, 01-030 Warsaw, Poland
Diagnose und Behandlungszentrum für Kinder und Jugendliche, Vivantes Klinikum Neuköln, 12351 Berlin, Germany
Amsterdam UMC, University of Amsterdam, Department of (Neuro)Pathology, Amsterdam Neuroscience, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
Stichting Epilepsie Instellingen Nederland (SEIN), The Netherlands
Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA
Department of Development and Regeneration-Section Pediatric Neurology, University Hospitals KU Leuven, 3000 Leuven, Belgium
Department of Child Neurology, Medical University of Warsaw, Warsaw, Poland Zwirki i Wigury 63A, 02-091 Warsaw, Poland
Author to whom correspondence should be addressed.
J. Anink, M. Blazejczyk, A. Bongaerts, J. Borkowska, D. Breuillard, D. Chmielewski, M. Dabrowska, J. De Ridder, K. Giannikou, J. Glowacka, L. Hamieh, A. Haręza, A. Iyer, Bart Janssen, J. Jaworski, M. Kaczorowska- Frontczak, K. Lehmann, A. Leusman, N. Maćkowiak, J. Mills, A. Muelebner, C. Scheldeman, A. Sciuto, K. Sijko, M. Slowinska, A. Tempes, J. van Scheppingen, B. Verhelle, J. Vervisch, M. Urbańska, K. Zych, M. Biernacka, B. Łojszczyk.
J. Clin. Med. 2019, 8(6), 788;
Received: 2 April 2019 / Revised: 25 May 2019 / Accepted: 30 May 2019 / Published: 3 June 2019
(This article belongs to the Special Issue Advances in Autism Spectrum Disorders)
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. View Full-Text
Keywords: tuberous sclerosis complex; autism; EPISTOP; treatment; markers; epilepsy; risk factors; developmental delay; intellectual disability; diagnosis tuberous sclerosis complex; autism; EPISTOP; treatment; markers; epilepsy; risk factors; developmental delay; intellectual disability; diagnosis
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Moavero, R.; Benvenuto, A.; Emberti Gialloreti, L.; Siracusano, M.; Kotulska, K.; Weschke, B.; Riney, K.; Jansen, F.E.; Feucht, M.; Krsek, P.; Nabbout, R.; Jansen, A.C.; Wojdan, K.; Borkowska, J.; Sadowski, K.; Hertzberg, C.; Hulshof, H.; Samueli, S.; Benova, B.; Aronica, E.; Kwiatkowski, D.J.; Lagae, L.; Jozwiak, S.; Curatolo, P.; on behalf of the EPISTOP Consortium. Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study. J. Clin. Med. 2019, 8, 788.

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