Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex

Autor: Moavero, Romina, Benvenuto, Arianna, Gialloreti, Leonardo Emberti, Siracusano, Martina, Kotulska, Katarzyna, Weschke, Bernhard, Riney, Kate, Jansen, Floor E, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C, Wojdan, Konrad, Borkowska, Julita, Sadowski, Krzystof, Hertzberg, Christoph, Hulshof, Hanna, Samueli, Sharon, Benova, Barbora, Aronica, Eleonora, Kwiatkowski, David J, Lagae, Lieven, Jozwiak, Sergiusz, Curatolo, Paolo, Anink, J, Blazejczyk, M, Bongaerts, A, Borkowska, J, Breuillard, D, Chmielewski, D, Dabrowska, M, De Ridder, J, Giannikou, K, Glowacka, J, Hamieh, L, Harvza, A, Iyer, A, Janssen, Bart, Jaworski, J, Kaczorowska-Frontczak, M, Lehmann, K, Leusman, A, Madcowiak, N, Mills, J, Muelebner, A, Scheldeman, C, Sciuto, A, Sijko, K, Slowinska, M, Tempes, A, van Scheppingen, J, Verhelle, B, Vervisch, J, Urbanska, M, Zych, K, Biernacka, M, Lojszczyk, B
Přispěvatelé: Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Pathology, AII - Inflammatory diseases, APH - Aging & Later Life, APH - Mental Health, ANS - Cellular & Molecular Mechanisms
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Pediatrics
SYMPTOMS
diagnosis
lcsh:Medicine
markers
CHILDREN
tuberous sclerosis complex
Bayley Scales of Infant Development
Tuberous sclerosis
0302 clinical medicine
EVEROLIMUS
Intellectual disability
Medicine
risk factors
Neuropsychological assessment
EPISTOP
autism
developmental delay
epilepsy
intellectual disability
treatment
RISK
0303 health sciences
medicine.diagnostic_test
General Medicine
Settore MED/39
Autism spectrum disorder
Life Sciences & Biomedicine
INTERVENTION
medicine.medical_specialty
Context (language use)
behavioral disciplines and activities
Article
03 medical and health sciences
Medicine
General & Internal
General & Internal Medicine
Genetic model
mental disorders
030304 developmental biology
Science & Technology
IDENTIFICATION
business.industry
lcsh:R
medicine.disease
TSC1
ONSET
Autism
SEIZURES
business
030217 neurology & neurosurgery
Zdroj: Journal of Clinical Medicine
Journal of clinical medicine, 8(6):788. Multidisciplinary Digital Publishing Institute (MDPI)
Journal of Clinical Medicine, Vol 8, Iss 6, p 788 (2019)
Journal of Clinical Medicine; Volume 8; Issue 6; Pages: 788
ISSN: 2077-0383
Popis: 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. ispartof: JOURNAL OF CLINICAL MEDICINE vol:8 issue:6 ispartof: location:Switzerland status: published
Databáze: OpenAIRE
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