Autism spectrum disorder polygenic scores are associated with every day executive function in children admitted for clinical assessment / Tonje TORSKE in Autism Research, 13-2 (February 2020)  

Public ISBD [article]  inAutism Research > 13-2 (February 2020) . - p.207-220 Titre : Autism spectrum disorder polygenic scores are associated with every day executive function in children admitted for clinical assessment Type de document : Texte imprimé et/ou numérique Auteurs : Tonje TORSKE, Auteur ; Terje NAERLAND, Auteur ; Francesco BETTELLA, Auteur ; Thomas BJELLA, Auteur ; Eva MALT, Auteur ; Anne Lise HOYLAND, Auteur ; Nina STENBERG, Auteur ; Merete Glenne OIE, Auteur ; Ole A. ANDREASSEN, Auteur Article en page(s) : p.207-220 Langues : Anglais (eng) Mots-clés : attention deficit/hyperactivity disorder  autism spectrum disorder  behavior rating inventory of executive function  executive function  polygenic score Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDs) are behaviorally defined disorders with overlapping clinical features that are often associated with higher-order cognitive dysfunction, particularly executive dysfunction. Our aim was to determine if the polygenic score (PGS) for ASD is associated with parent-reported executive dysfunction in everyday life using the Behavior Rating Inventory of Executive Function (BRIEF). Furthermore, we investigated if PGS for general intelligence (INT) and attention deficit/hyperactivity disorder (ADHD) also correlate with BRIEF. We included 176 children, adolescents and young adults aged 5-22 years with full-scale intelligence quotient (IQ) above 70. All were admitted for clinical assessment of ASD symptoms and 68% obtained an ASD diagnosis. We found a significant difference between low and high ASD PGS groups in the BRIEF behavior regulation index (BRI) (P = 0.015, Cohen's d = 0.69). A linear regression model accounting for age, sex, full-scale IQ, Social Responsiveness Scale (SRS) total score, ASD, ADHD and INT PGS groups as well as genetic principal components, significantly predicted the BRI score; F(11,130) = 8.142, P < 0.001, R(2) = 0.41 (unadjusted). Only SRS total (P < 0.001), ASD PGS 0.1 group (P = 0.018), and sex (P = 0.022) made a significant contribution to the model. This suggests that the common ASD risk gene variants have a stronger association to behavioral regulation aspects of executive dysfunction than ADHD risk or INT variants in a clinical sample with ASD symptoms. Autism Res 2020, 13: 207-220. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: People with autism spectrum disorder (ASD) often have difficulties with higher-order cognitive processes that regulate thoughts and actions during goal-directed behavior, also known as executive function (EF). We studied the association between genetics related to ASD and EF and found a relation between high polygenic score (PGS) for ASD and difficulties with behavior regulation aspects of EF in children and adolescents under assessment for ASD. Furthermore, high PGS for general intelligence was related to social problems. En ligne : http://dx.doi.org/10.1002/aur.2207 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420 [article] Autism spectrum disorder polygenic scores are associated with every day executive function in children admitted for clinical assessment [Texte imprimé et/ou numérique] / Tonje TORSKE, Auteur ; Terje NAERLAND, Auteur ; Francesco BETTELLA, Auteur ; Thomas BJELLA, Auteur ; Eva MALT, Auteur ; Anne Lise HOYLAND, Auteur ; Nina STENBERG, Auteur ; Merete Glenne OIE, Auteur ; Ole A. ANDREASSEN, Auteur . - p.207-220. Langues : Anglais (eng) in Autism Research > 13-2 (February 2020) . - p.207-220 Mots-clés : attention deficit/hyperactivity disorder  autism spectrum disorder  behavior rating inventory of executive function  executive function  polygenic score Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDs) are behaviorally defined disorders with overlapping clinical features that are often associated with higher-order cognitive dysfunction, particularly executive dysfunction. Our aim was to determine if the polygenic score (PGS) for ASD is associated with parent-reported executive dysfunction in everyday life using the Behavior Rating Inventory of Executive Function (BRIEF). Furthermore, we investigated if PGS for general intelligence (INT) and attention deficit/hyperactivity disorder (ADHD) also correlate with BRIEF. We included 176 children, adolescents and young adults aged 5-22 years with full-scale intelligence quotient (IQ) above 70. All were admitted for clinical assessment of ASD symptoms and 68% obtained an ASD diagnosis. We found a significant difference between low and high ASD PGS groups in the BRIEF behavior regulation index (BRI) (P = 0.015, Cohen's d = 0.69). A linear regression model accounting for age, sex, full-scale IQ, Social Responsiveness Scale (SRS) total score, ASD, ADHD and INT PGS groups as well as genetic principal components, significantly predicted the BRI score; F(11,130) = 8.142, P < 0.001, R(2) = 0.41 (unadjusted). Only SRS total (P < 0.001), ASD PGS 0.1 group (P = 0.018), and sex (P = 0.022) made a significant contribution to the model. This suggests that the common ASD risk gene variants have a stronger association to behavioral regulation aspects of executive dysfunction than ADHD risk or INT variants in a clinical sample with ASD symptoms. Autism Res 2020, 13: 207-220. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: People with autism spectrum disorder (ASD) often have difficulties with higher-order cognitive processes that regulate thoughts and actions during goal-directed behavior, also known as executive function (EF). We studied the association between genetics related to ASD and EF and found a relation between high polygenic score (PGS) for ASD and difficulties with behavior regulation aspects of EF in children and adolescents under assessment for ASD. Furthermore, high PGS for general intelligence was related to social problems. En ligne : http://dx.doi.org/10.1002/aur.2207 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420

Functional Outcomes of Children Identified Early in the Developmental Period as at Risk for ASD Utilizing the The Norwegian Mother, Father and Child Cohort Study (MoBa) / Nina STENBERG in Journal of Autism and Developmental Disorders, 51-3 (March 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-3 (March 2021) . - p.922-932 Titre : Functional Outcomes of Children Identified Early in the Developmental Period as at Risk for ASD Utilizing the The Norwegian Mother, Father and Child Cohort Study (MoBa) Type de document : Texte imprimé et/ou numérique Auteurs : Nina STENBERG, Auteur ; Synnve SCHJØLBERG, Auteur ; Frederick SHIC, Auteur ; Fred R. VOLKMAR, Auteur ; Anne-Siri ØYEN, Auteur ; Michaeline BRESNAHAN, Auteur ; Britt Kveim SVENDSEN, Auteur ; Stephen VON TETZCHNER, Auteur ; Nina Torheim THRONÆS, Auteur ; Suzanne MACARI, Auteur ; Domenic V. CICCHETTI, Auteur ; Katarzyna CHAWARSKA, Auteur ; Pål SUREN, Auteur ; Roald A. ØIEN, Auteur Article en page(s) : p.922-932 Langues : Anglais (eng) Mots-clés : Ados  Autism spectrum disorders  Cognition  Early identification  Father and child cohort study  Language  MoBa  Norwegian mother  Screening  Vineland Index. décimale : PER Périodiques Résumé : Early identification of autism spectrum disorder (ASD) is regarded as crucial for swift access to early intervention and, subsequently, better outcomes later in life. However, current instruments miss large proportions of children who later go on to be diagnosed with ASD, raising a question of what these instruments measure. The present study utilized data from the Norwegian Mother, Father, and Child Cohort Study and the Autism Birth Cohort study to explore the subsequent developmental and diagnostic characteristics of children raising developmental concern on the six-critical discriminative item criterion of the M-CHAT (DFA6) at 18 months of age (N = 834). The DFA6 identified 28.8% of children diagnosed with ASD (N = 163), but 4.4% with language disorder (N = 188) and 81.3% with intellectual disability (N = 32) without ASD. Scoring in the «at-risk» range was associated with lower IQ, impaired functional language, and greater severity of autism symptoms whether children had ASD or not. En ligne : http://dx.doi.org/10.1007/s10803-020-04539-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=443 [article] Functional Outcomes of Children Identified Early in the Developmental Period as at Risk for ASD Utilizing the The Norwegian Mother, Father and Child Cohort Study (MoBa) [Texte imprimé et/ou numérique] / Nina STENBERG, Auteur ; Synnve SCHJØLBERG, Auteur ; Frederick SHIC, Auteur ; Fred R. VOLKMAR, Auteur ; Anne-Siri ØYEN, Auteur ; Michaeline BRESNAHAN, Auteur ; Britt Kveim SVENDSEN, Auteur ; Stephen VON TETZCHNER, Auteur ; Nina Torheim THRONÆS, Auteur ; Suzanne MACARI, Auteur ; Domenic V. CICCHETTI, Auteur ; Katarzyna CHAWARSKA, Auteur ; Pål SUREN, Auteur ; Roald A. ØIEN, Auteur . - p.922-932. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-3 (March 2021) . - p.922-932 Mots-clés : Ados  Autism spectrum disorders  Cognition  Early identification  Father and child cohort study  Language  MoBa  Norwegian mother  Screening  Vineland Index. décimale : PER Périodiques Résumé : Early identification of autism spectrum disorder (ASD) is regarded as crucial for swift access to early intervention and, subsequently, better outcomes later in life. However, current instruments miss large proportions of children who later go on to be diagnosed with ASD, raising a question of what these instruments measure. The present study utilized data from the Norwegian Mother, Father, and Child Cohort Study and the Autism Birth Cohort study to explore the subsequent developmental and diagnostic characteristics of children raising developmental concern on the six-critical discriminative item criterion of the M-CHAT (DFA6) at 18 months of age (N = 834). The DFA6 identified 28.8% of children diagnosed with ASD (N = 163), but 4.4% with language disorder (N = 188) and 81.3% with intellectual disability (N = 32) without ASD. Scoring in the «at-risk» range was associated with lower IQ, impaired functional language, and greater severity of autism symptoms whether children had ASD or not. En ligne : http://dx.doi.org/10.1007/s10803-020-04539-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=443

The influence of parental concern on the utility of autism diagnostic instruments / Karoline Alexandra HAVDAHL in Autism Research, 10-10 (October 2017)  

Public ISBD [article]  inAutism Research > 10-10 (October 2017) . - p.1672-1686 Titre : The influence of parental concern on the utility of autism diagnostic instruments Type de document : Texte imprimé et/ou numérique Auteurs : Karoline Alexandra HAVDAHL, Auteur ; Somer L. BISHOP, Auteur ; Pål SUREN, Auteur ; Anne-Siri ØYEN, Auteur ; Catherine LORD, Auteur ; Andrew PICKLES, Auteur ; Stephen VON TETZCHNER, Auteur ; Synnve SCHJØLBERG, Auteur ; Nina GUNNES, Auteur ; Mady HORNIG, Auteur ; W. Ian LIPKIN, Auteur ; Ezra SUSSER, Auteur ; Michaeline BRESNAHAN, Auteur ; Per MAGNUS, Auteur ; Nina STENBERG, Auteur ; Ted REICHBORN-KJENNERUD, Auteur ; Camilla STOLTENBERG, Auteur Article en page(s) : p.1672-1686 Langues : Anglais (eng) Mots-clés : Autism Diagnostic Interview-Revised  Autism Diagnostic Observation Schedule  early diagnosis  screening Index. décimale : PER Périodiques Résumé : The parental report-based Autism Diagnostic Interview-Revised (ADI-R) and the clinician observation-based Autism Diagnostic Observation Schedule (ADOS) have been validated primarily in U.S. clinics specialized in autism spectrum disorder (ASD), in which most children are referred by their parents because of ASD concern. This study assessed diagnostic agreement of the ADOS-2 and ADI-R toddler algorithms in a more broadly based sample of 679 toddlers (age 35–47 months) from the Norwegian Mother and Child Cohort. We also examined whether parental concern about ASD influenced instrument performance, comparing toddlers identified based on parental ASD concern (n?=?48) and parent-reported signs of developmental problems (screening) without a specific concern about ASD (n?=?400). The ADOS cutoffs showed consistently well-balanced sensitivity and specificity. The ADI-R cutoffs demonstrated good specificity, but reduced sensitivity, missing 43% of toddlers whose parents were not specifically concerned about ASD. The ADI-R and ADOS dimensional scores agreed well with clinical diagnoses (area under the curve???0.85), contributing additively to their prediction. On the ADI-R, different cutoffs were needed according to presence or absence of parental ASD concern, in order to achieve comparable balance of sensitivity and specificity. These results highlight the importance of taking parental concern about ASD into account when interpreting scores from parental report-based instruments such as the ADI-R. While the ADOS cutoffs performed consistently well, the additive contributions of ADI-R and ADOS scores to the prediction of ASD diagnosis underscore the value of combining instruments based on parent accounts and clinician observation in evaluation of ASD. Autism Res 2017, 10: 1672–1686. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1817 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=322 [article] The influence of parental concern on the utility of autism diagnostic instruments [Texte imprimé et/ou numérique] / Karoline Alexandra HAVDAHL, Auteur ; Somer L. BISHOP, Auteur ; Pål SUREN, Auteur ; Anne-Siri ØYEN, Auteur ; Catherine LORD, Auteur ; Andrew PICKLES, Auteur ; Stephen VON TETZCHNER, Auteur ; Synnve SCHJØLBERG, Auteur ; Nina GUNNES, Auteur ; Mady HORNIG, Auteur ; W. Ian LIPKIN, Auteur ; Ezra SUSSER, Auteur ; Michaeline BRESNAHAN, Auteur ; Per MAGNUS, Auteur ; Nina STENBERG, Auteur ; Ted REICHBORN-KJENNERUD, Auteur ; Camilla STOLTENBERG, Auteur . - p.1672-1686. Langues : Anglais (eng) in Autism Research > 10-10 (October 2017) . - p.1672-1686 Mots-clés : Autism Diagnostic Interview-Revised  Autism Diagnostic Observation Schedule  early diagnosis  screening Index. décimale : PER Périodiques Résumé : The parental report-based Autism Diagnostic Interview-Revised (ADI-R) and the clinician observation-based Autism Diagnostic Observation Schedule (ADOS) have been validated primarily in U.S. clinics specialized in autism spectrum disorder (ASD), in which most children are referred by their parents because of ASD concern. This study assessed diagnostic agreement of the ADOS-2 and ADI-R toddler algorithms in a more broadly based sample of 679 toddlers (age 35–47 months) from the Norwegian Mother and Child Cohort. We also examined whether parental concern about ASD influenced instrument performance, comparing toddlers identified based on parental ASD concern (n?=?48) and parent-reported signs of developmental problems (screening) without a specific concern about ASD (n?=?400). The ADOS cutoffs showed consistently well-balanced sensitivity and specificity. The ADI-R cutoffs demonstrated good specificity, but reduced sensitivity, missing 43% of toddlers whose parents were not specifically concerned about ASD. The ADI-R and ADOS dimensional scores agreed well with clinical diagnoses (area under the curve???0.85), contributing additively to their prediction. On the ADI-R, different cutoffs were needed according to presence or absence of parental ASD concern, in order to achieve comparable balance of sensitivity and specificity. These results highlight the importance of taking parental concern about ASD into account when interpreting scores from parental report-based instruments such as the ADI-R. While the ADOS cutoffs performed consistently well, the additive contributions of ADI-R and ADOS scores to the prediction of ASD diagnosis underscore the value of combining instruments based on parent accounts and clinician observation in evaluation of ASD. Autism Res 2017, 10: 1672–1686. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1817 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=322

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