Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study
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...
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| creator | 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 |
| description | 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. |
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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.</description><identifier>ISSN: 2077-0383</identifier><identifier>EISSN: 2077-0383</identifier><language>eng</language><publisher>MDPI</publisher><ispartof>JOURNAL OF CLINICAL MEDICINE, 2019-06, Vol.8 (6)</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,315,780,784,27858</link.rule.ids></links><search><creatorcontrib>Moavero, Romina</creatorcontrib><creatorcontrib>Benvenuto, Arianna</creatorcontrib><creatorcontrib>Gialloreti, Leonardo Emberti</creatorcontrib><creatorcontrib>Siracusano, Martina</creatorcontrib><creatorcontrib>Kotulska, Katarzyna</creatorcontrib><creatorcontrib>Weschke, Bernhard</creatorcontrib><creatorcontrib>Riney, Kate</creatorcontrib><creatorcontrib>Jansen, Floor E</creatorcontrib><creatorcontrib>Feucht, Martha</creatorcontrib><creatorcontrib>Krsek, Pavel</creatorcontrib><creatorcontrib>Nabbout, Rima</creatorcontrib><creatorcontrib>Jansen, Anna C</creatorcontrib><creatorcontrib>Wojdan, Konrad</creatorcontrib><creatorcontrib>Borkowska, Julita</creatorcontrib><creatorcontrib>Sadowski, Krzystof</creatorcontrib><creatorcontrib>Hertzberg, Christoph</creatorcontrib><creatorcontrib>Hulshof, Hanna</creatorcontrib><creatorcontrib>Samueli, Sharon</creatorcontrib><creatorcontrib>Benova, Barbora</creatorcontrib><creatorcontrib>Aronica, Eleonora</creatorcontrib><creatorcontrib>Kwiatkowski, David J</creatorcontrib><creatorcontrib>Lagae, Lieven</creatorcontrib><creatorcontrib>Jozwiak, Sergiusz</creatorcontrib><creatorcontrib>Curatolo, Paolo</creatorcontrib><creatorcontrib>Anink, J</creatorcontrib><creatorcontrib>Blazejczyk, M</creatorcontrib><creatorcontrib>Bongaerts, A</creatorcontrib><creatorcontrib>Borkowska, J</creatorcontrib><creatorcontrib>Breuillard, D</creatorcontrib><creatorcontrib>Chmielewski, D</creatorcontrib><creatorcontrib>Dabrowska, M</creatorcontrib><creatorcontrib>De Ridder, J</creatorcontrib><creatorcontrib>Giannikou, K</creatorcontrib><creatorcontrib>Glowacka, J</creatorcontrib><creatorcontrib>Hamieh, L</creatorcontrib><creatorcontrib>Harvza, A</creatorcontrib><creatorcontrib>Iyer, A</creatorcontrib><creatorcontrib>Janssen, Bart</creatorcontrib><creatorcontrib>Jaworski, J</creatorcontrib><creatorcontrib>Kaczorowska-Frontczak, M</creatorcontrib><creatorcontrib>Lehmann, K</creatorcontrib><creatorcontrib>Leusman, A</creatorcontrib><creatorcontrib>Madcowiak, N</creatorcontrib><creatorcontrib>Mills, J</creatorcontrib><creatorcontrib>Muelebner, A</creatorcontrib><creatorcontrib>Scheldeman, C</creatorcontrib><creatorcontrib>Sciuto, A</creatorcontrib><creatorcontrib>Sijko, K</creatorcontrib><creatorcontrib>Slowinska, M</creatorcontrib><creatorcontrib>Tempes, A</creatorcontrib><creatorcontrib>van Scheppingen, J</creatorcontrib><creatorcontrib>Verhelle, B</creatorcontrib><creatorcontrib>Vervisch, J</creatorcontrib><creatorcontrib>Urbanska, M</creatorcontrib><creatorcontrib>Zych, K</creatorcontrib><creatorcontrib>Biernacka, M</creatorcontrib><creatorcontrib>Lojszczyk, B</creatorcontrib><title>Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study</title><title>JOURNAL OF CLINICAL MEDICINE</title><description>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. 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B</creatorcontrib><collection>Lirias (KU Leuven Association)</collection><jtitle>JOURNAL OF CLINICAL MEDICINE</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Moavero, Romina</au><au>Benvenuto, Arianna</au><au>Gialloreti, Leonardo Emberti</au><au>Siracusano, Martina</au><au>Kotulska, Katarzyna</au><au>Weschke, Bernhard</au><au>Riney, Kate</au><au>Jansen, Floor E</au><au>Feucht, Martha</au><au>Krsek, Pavel</au><au>Nabbout, Rima</au><au>Jansen, Anna C</au><au>Wojdan, Konrad</au><au>Borkowska, Julita</au><au>Sadowski, Krzystof</au><au>Hertzberg, Christoph</au><au>Hulshof, Hanna</au><au>Samueli, Sharon</au><au>Benova, Barbora</au><au>Aronica, Eleonora</au><au>Kwiatkowski, David J</au><au>Lagae, Lieven</au><au>Jozwiak, Sergiusz</au><au>Curatolo, Paolo</au><au>Anink, J</au><au>Blazejczyk, M</au><au>Bongaerts, A</au><au>Borkowska, J</au><au>Breuillard, D</au><au>Chmielewski, D</au><au>Dabrowska, M</au><au>De Ridder, J</au><au>Giannikou, K</au><au>Glowacka, J</au><au>Hamieh, L</au><au>Harvza, A</au><au>Iyer, A</au><au>Janssen, Bart</au><au>Jaworski, J</au><au>Kaczorowska-Frontczak, M</au><au>Lehmann, K</au><au>Leusman, A</au><au>Madcowiak, N</au><au>Mills, J</au><au>Muelebner, A</au><au>Scheldeman, C</au><au>Sciuto, A</au><au>Sijko, K</au><au>Slowinska, M</au><au>Tempes, A</au><au>van Scheppingen, J</au><au>Verhelle, B</au><au>Vervisch, J</au><au>Urbanska, M</au><au>Zych, K</au><au>Biernacka, M</au><au>Lojszczyk, B</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study</atitle><jtitle>JOURNAL OF CLINICAL MEDICINE</jtitle><date>2019-06</date><risdate>2019</risdate><volume>8</volume><issue>6</issue><issn>2077-0383</issn><eissn>2077-0383</eissn><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.</abstract><pub>MDPI</pub><oa>free_for_read</oa></addata></record> |
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| source | Lirias (KU Leuven Association); PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| title | Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study |
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