Early clinical predictors of autism spectrum disorder in infants with tuberous sclerosis complex: Results from the EPISTOP study

on behalf of the EPISTOP Consortium

doi:10.3390/jcm8060788

Early clinical predictors of autism spectrum disorder in infants with tuberous sclerosis complex: Results from the EPISTOP study

on behalf of the EPISTOP Consortium

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Abstract

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.

Original language	English
Article number	788
Journal	Journal of Clinical Medicine
Volume	8
Issue number	6
DOIs	https://doi.org/10.3390/jcm8060788
State	Published - Jun 2019

Keywords

Autism
Developmental delay
Diagnosis
EPISTOP
Epilepsy
Intellectual disability
Markers
Risk factors
Treatment
Tuberous sclerosis complex

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10.3390/jcm8060788

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@article{772f59c7bed6443c999bab353a5c2612,

title = "Early clinical predictors of autism spectrum disorder in infants with tuberous sclerosis complex: Results from the EPISTOP study",

abstract = "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.",

keywords = "Autism, Developmental delay, Diagnosis, EPISTOP, Epilepsy, Intellectual disability, Markers, Risk factors, Treatment, Tuberous sclerosis complex",

author = "{on behalf of the EPISTOP Consortium} and Romina Moavero and Arianna Benvenuto and Gialloreti, {Leonardo Emberti} and Martina Siracusano and Katarzyna Kotulska and Bernhard Weschke and Kate Riney and Jansen, {Floor E.} and Martha Feucht and Pavel Krsek and Rima Nabbout and Jansen, {Anna C.} and Konrad Wojdan and Julita Borkowska and Krzystof Sadowski and Christoph Hertzberg and Hanna Hulshof and Sharon Samueli and Barbora Benova and Eleonora Aronica and Kwiatkowski, {David J.} and Lieven Lagae and Sergiusz Jozwiak and Paolo Curatolo and J. Anink and M. Blazejczyk and A. Bongaerts and J. Borkowska and D. Breuillard and D. Chmielewski and M. Dabrowska and {De Ridder}, J. and K. Giannikou and J. Glowacka and L. Hamieh and A. Har{\c e}za and A. Iyer and Bart Janssen and J. Jaworski and M. Kaczorowska-Frontczak and K. Lehmann and A. Leusman and N. Ma{\'c}kowiak and J. Mills and A. Muelebner and C. Scheldeman and A. Sciuto and K. Sijko and M. Slowinska and A. Tempes and {Van Scheppingen}, J. and B. Verhelle and J. Vervisch and M. Urba{\'n}ska and K. Zych and M. Biernacka and B. {\L}ojszczyk",

note = "Publisher Copyright: {\textcopyright} 2019 by the authors. Licensee MDPI, Basel, Switzerland.",

year = "2019",

month = jun,

doi = "10.3390/jcm8060788",

language = "English",

volume = "8",

journal = "Journal of Clinical Medicine",

issn = "2077-0383",

number = "6",

}

TY - JOUR

T1 - Early clinical predictors of autism spectrum disorder in infants with tuberous sclerosis complex

T2 - Results from the EPISTOP study

AU - on behalf of the EPISTOP Consortium

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 - Jozwiak, Sergiusz

AU - Curatolo, Paolo

AU - Anink, J.

AU - Blazejczyk, M.

AU - Bongaerts, A.

AU - Borkowska, J.

AU - Breuillard, D.

AU - Chmielewski, D.

AU - Dabrowska, M.

AU - De Ridder, J.

AU - Giannikou, K.

AU - Glowacka, J.

AU - Hamieh, L.

AU - Haręza, A.

AU - Iyer, A.

AU - Janssen, Bart

AU - Jaworski, J.

AU - Kaczorowska-Frontczak, M.

AU - Lehmann, K.

AU - Leusman, A.

AU - Maćkowiak, N.

AU - Mills, J.

AU - Muelebner, A.

AU - Scheldeman, C.

AU - Sciuto, A.

AU - Sijko, K.

AU - Slowinska, M.

AU - Tempes, A.

AU - Van Scheppingen, J.

AU - Verhelle, B.

AU - Vervisch, J.

AU - Urbańska, M.

AU - Zych, K.

AU - Biernacka, M.

AU - Łojszczyk, B.

PY - 2019/6

Y1 - 2019/6

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.

KW - Autism

KW - Developmental delay

KW - Diagnosis

KW - EPISTOP

KW - Epilepsy

KW - Intellectual disability

KW - Markers

KW - Risk factors

KW - Treatment

KW - Tuberous sclerosis complex

UR - http://www.scopus.com/inward/record.url?scp=85114274534&partnerID=8YFLogxK

U2 - 10.3390/jcm8060788

DO - 10.3390/jcm8060788

M3 - Article

AN - SCOPUS:85114274534

SN - 2077-0383

VL - 8

JO - Journal of Clinical Medicine

JF - Journal of Clinical Medicine

IS - 6

M1 - 788

ER -

Early clinical predictors of autism spectrum disorder in infants with tuberous sclerosis complex: Results from the EPISTOP study

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Keywords

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