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Faire une suggestionSingle Nucleotide Polymorphisms Predict Symptom Severity of Autism Spectrum Disorder / Yun JIAO in Journal of Autism and Developmental Disorders, 42-6 (June 2012)
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Titre : Single Nucleotide Polymorphisms Predict Symptom Severity of Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Yun JIAO, Auteur ; Rong CHEN, Auteur ; Xiaoyan KE, Auteur ; Lu CHENG, Auteur ; Kangkang CHU, Auteur ; Zuhong LU, Auteur ; Edward H. HERSKOVITS, Auteur Année de publication : 2012 Article en page(s) : p.971-983 Langues : Anglais (eng) Mots-clés : Autism-spectrum disorder Single-nucleotide polymorphisms Diagnostic model Genotype-phenotype analysis Data mining Index. décimale : PER Périodiques Résumé : Autism is widely believed to be a heterogeneous disorder; diagnosis is currently based solely on clinical criteria, although genetic, as well as environmental, influences are thought to be prominent factors in the etiology of most forms of autism. Our goal is to determine whether a predictive model based on single-nucleotide polymorphisms (SNPs) can predict symptom severity of autism spectrum disorder (ASD). We divided 118 ASD children into a mild/moderate autism group (n = 65) and a severe autism group (n = 53), based on the Childhood Autism Rating Scale (CARS). For each child, we obtained 29 SNPs of 9 ASD-related genes. To generate predictive models, we employed three machine-learning techniques: decision stumps (DSs), alternating decision trees (ADTrees), and FlexTrees. DS and FlexTree generated modestly better classifiers, with accuracy = 67%, sensitivity = 0.88 and specificity = 0.42. The SNP rs878960 in GABRB3 was selected by all models, and was related associated with CARS assessment. Our results suggest that SNPs have the potential to offer accurate classification of ASD symptom severity. En ligne : http://dx.doi.org/10.1007/s10803-011-1327-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=156
in Journal of Autism and Developmental Disorders > 42-6 (June 2012) . - p.971-983[article] Single Nucleotide Polymorphisms Predict Symptom Severity of Autism Spectrum Disorder [texte imprimé] / Yun JIAO, Auteur ; Rong CHEN, Auteur ; Xiaoyan KE, Auteur ; Lu CHENG, Auteur ; Kangkang CHU, Auteur ; Zuhong LU, Auteur ; Edward H. HERSKOVITS, Auteur . - 2012 . - p.971-983.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-6 (June 2012) . - p.971-983
Mots-clés : Autism-spectrum disorder Single-nucleotide polymorphisms Diagnostic model Genotype-phenotype analysis Data mining Index. décimale : PER Périodiques Résumé : Autism is widely believed to be a heterogeneous disorder; diagnosis is currently based solely on clinical criteria, although genetic, as well as environmental, influences are thought to be prominent factors in the etiology of most forms of autism. Our goal is to determine whether a predictive model based on single-nucleotide polymorphisms (SNPs) can predict symptom severity of autism spectrum disorder (ASD). We divided 118 ASD children into a mild/moderate autism group (n = 65) and a severe autism group (n = 53), based on the Childhood Autism Rating Scale (CARS). For each child, we obtained 29 SNPs of 9 ASD-related genes. To generate predictive models, we employed three machine-learning techniques: decision stumps (DSs), alternating decision trees (ADTrees), and FlexTrees. DS and FlexTree generated modestly better classifiers, with accuracy = 67%, sensitivity = 0.88 and specificity = 0.42. The SNP rs878960 in GABRB3 was selected by all models, and was related associated with CARS assessment. Our results suggest that SNPs have the potential to offer accurate classification of ASD symptom severity. En ligne : http://dx.doi.org/10.1007/s10803-011-1327-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=156 The "Reading the Mind in the Eyes" Test in Autism-Spectrum Disorders Comparison with Healthy Controls: A Systematic Review and Meta-analysis / I. PENUELAS-CALVO in Journal of Autism and Developmental Disorders, 49-3 (March 2019)
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Titre : The "Reading the Mind in the Eyes" Test in Autism-Spectrum Disorders Comparison with Healthy Controls: A Systematic Review and Meta-analysis Type de document : texte imprimé Auteurs : I. PENUELAS-CALVO, Auteur ; Aditya SAREEN, Auteur ; Julia SEVILLA-LLEWELLYN-JONES, Auteur ; Pablo FERNANDEZ-BERROCAL, Auteur Article en page(s) : p.1048-1061 Langues : Anglais (eng) Mots-clés : Autism-spectrum disorder Intelligence quotient Performance intelligence Reading the Mind in the Eye Test Verbal intelligence Index. décimale : PER Périodiques Résumé : We conducted a meta-analysis of 18 studies to establish whether a relation exists between Reading the Mind in the Eye Test (RMET) performance and intelligence quotient (IQ) in individuals diagnosed with autism-spectrum disorders (ASD) and controls, taking into account relevant characteristics such as age, gender, and autism quotient. Our findings indicate that RMET performance was better in controls compared with those diagnosed with ASD. We found that RMET performance is dependent on full and verbal IQ and age in controls. However, RMET performance is negatively correlated with performance IQ in individuals diagnosed with ASD. These results suggest that the methodology applied by ASD when taking the RMET is different from control individuals and might depend less on verbal abilities. En ligne : http://dx.doi.org/10.1007/s10803-018-3814-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386
in Journal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.1048-1061[article] The "Reading the Mind in the Eyes" Test in Autism-Spectrum Disorders Comparison with Healthy Controls: A Systematic Review and Meta-analysis [texte imprimé] / I. PENUELAS-CALVO, Auteur ; Aditya SAREEN, Auteur ; Julia SEVILLA-LLEWELLYN-JONES, Auteur ; Pablo FERNANDEZ-BERROCAL, Auteur . - p.1048-1061.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.1048-1061
Mots-clés : Autism-spectrum disorder Intelligence quotient Performance intelligence Reading the Mind in the Eye Test Verbal intelligence Index. décimale : PER Périodiques Résumé : We conducted a meta-analysis of 18 studies to establish whether a relation exists between Reading the Mind in the Eye Test (RMET) performance and intelligence quotient (IQ) in individuals diagnosed with autism-spectrum disorders (ASD) and controls, taking into account relevant characteristics such as age, gender, and autism quotient. Our findings indicate that RMET performance was better in controls compared with those diagnosed with ASD. We found that RMET performance is dependent on full and verbal IQ and age in controls. However, RMET performance is negatively correlated with performance IQ in individuals diagnosed with ASD. These results suggest that the methodology applied by ASD when taking the RMET is different from control individuals and might depend less on verbal abilities. En ligne : http://dx.doi.org/10.1007/s10803-018-3814-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 Mothers' Reactions to Their Child's ASD Diagnosis: Predictors That Discriminate Grief from Distress / Heidi A. WAYMENT in Journal of Autism and Developmental Disorders, 48-4 (April 2018)
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Titre : Mothers' Reactions to Their Child's ASD Diagnosis: Predictors That Discriminate Grief from Distress Type de document : texte imprimé Auteurs : Heidi A. WAYMENT, Auteur ; Kristina A. BROOKSHIRE, Auteur Article en page(s) : p.1147-1158 Langues : Anglais (eng) Mots-clés : Autism-Spectrum Disorder Distress Grief Identity ambiguity Perceptions of loss Index. décimale : PER Périodiques Résumé : We examined whether grief and general distress reactions characterized mothers' reactions to their child's ASD diagnosis, and whether these two types of reactions had unique predictors. Hierarchical regression analyses were conducted on data collected from 362 mothers recruited from the Interactive Autism Network (IAN). The mothers were predominantly white, highly educated, and married. Grief reactions were positively associated with perceiving ASD as a loss and as unjust. Distress was positively associated with previous mental health issues, mothers' reports of their child's aggressive behavior, identity ambiguity, and less social support. Internal attributions were positively related to grief and distress. Discussion focuses on why the distinction between these two types of affective reactions may be useful for parents and professionals. En ligne : http://dx.doi.org/10.1007/s10803-017-3266-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351
in Journal of Autism and Developmental Disorders > 48-4 (April 2018) . - p.1147-1158[article] Mothers' Reactions to Their Child's ASD Diagnosis: Predictors That Discriminate Grief from Distress [texte imprimé] / Heidi A. WAYMENT, Auteur ; Kristina A. BROOKSHIRE, Auteur . - p.1147-1158.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 48-4 (April 2018) . - p.1147-1158
Mots-clés : Autism-Spectrum Disorder Distress Grief Identity ambiguity Perceptions of loss Index. décimale : PER Périodiques Résumé : We examined whether grief and general distress reactions characterized mothers' reactions to their child's ASD diagnosis, and whether these two types of reactions had unique predictors. Hierarchical regression analyses were conducted on data collected from 362 mothers recruited from the Interactive Autism Network (IAN). The mothers were predominantly white, highly educated, and married. Grief reactions were positively associated with perceiving ASD as a loss and as unjust. Distress was positively associated with previous mental health issues, mothers' reports of their child's aggressive behavior, identity ambiguity, and less social support. Internal attributions were positively related to grief and distress. Discussion focuses on why the distinction between these two types of affective reactions may be useful for parents and professionals. En ligne : http://dx.doi.org/10.1007/s10803-017-3266-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351 Pupil responses to social stimuli are associated with adaptive behaviors across the first 24 months of life / Rebecca GRZADZINSKI in Journal of Neurodevelopmental Disorders, 17 (2025)
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Titre : Pupil responses to social stimuli are associated with adaptive behaviors across the first 24 months of life Type de document : texte imprimé Auteurs : Rebecca GRZADZINSKI, Auteur ; Raymond S. 3rd CARPENTER, Auteur ; Josh RUTSOHN, Auteur ; Alapika JATKAR, Auteur ; Kattia MATA, Auteur ; Ambika BHATT, Auteur ; Maria M. ORTIZ-JUZA, Auteur ; Madison R. DENNEHEY, Auteur ; Donna GILLESKIE, Auteur ; Jed T. ELISON, Auteur ; Nicolas PÉGARD, Auteur ; Jose RODRIGUEZ-ROMAGUERA, Auteur Langues : Anglais (eng) Mots-clés : Autism Autism-spectrum disorder Eye-tracking Pupil change Pupil dynamics Pupillometry Social arousal Social attention approved by the Institutional Review Board at the University of North Carolina at Chapel Hill (IRB #21-1704). A parent or legal guardian provided written informed consent. Consent for publication: All authors have approved the manuscript for publication. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Pupil changes in response to well-controlled stimuli can be used to understand processes that regulate attention, learning, and arousal. This study investigates whether pupil dynamics to social stimuli are associated with concurrent adaptive behavior in typically developing infants. To accomplish this, we developed and assessed pupillary responses to Stimuli for Early Social Arousal and Motivation in Infants (SESAMI). METHODS: A sample of forty-six typically developing children aged six to twenty-four months were exposed to SESAMI. Infants were presented with either dynamic social faces or non-social stimuli that controlled for luminance, motion, and auditory exposure. A multi-level mixed effects model was used to fit pupillary response functions (PRFs) that measure the change in pupil size over time as the infants fixate on either a socially dynamic face or a non-social control. This model produces separate social and non-social PRFs for both the population and each individual. An average individual deviation score from the population PRF was calculated separately for social and non-social trials yielding the pupil response index (PRI). Vineland Adaptive Behavior Scales (VABS) were regressed on social and non-social individual PRIs while controlling for age and average fixation time. We tested whether the social PRI was a statistically significant predictor of adaptive behavior by comparing the model predicted VABS scores with observed scores. RESULTS: An increase in PRI to social stimuli was significantly associated with better adaptive behaviors in typically developing children between 6 and 24 months of age. CONCLUSIONS: SESAMI combined with pupillometry and multi-level mixed effects modeling, provides a novel and scalable framework for quantifying individual differences in pupil changes in response to social stimuli relative to a population-level baseline. By demonstrating that pupil response indices during social fixations predict adaptive behaviors, we lay the foundation to test how these measures may help identify infants with intellectual and developmental disorders. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09628-2. En ligne : https://dx.doi.org/10.1186/s11689-025-09628-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576
in Journal of Neurodevelopmental Disorders > 17 (2025)[article] Pupil responses to social stimuli are associated with adaptive behaviors across the first 24 months of life [texte imprimé] / Rebecca GRZADZINSKI, Auteur ; Raymond S. 3rd CARPENTER, Auteur ; Josh RUTSOHN, Auteur ; Alapika JATKAR, Auteur ; Kattia MATA, Auteur ; Ambika BHATT, Auteur ; Maria M. ORTIZ-JUZA, Auteur ; Madison R. DENNEHEY, Auteur ; Donna GILLESKIE, Auteur ; Jed T. ELISON, Auteur ; Nicolas PÉGARD, Auteur ; Jose RODRIGUEZ-ROMAGUERA, Auteur.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 17 (2025)
Mots-clés : Autism Autism-spectrum disorder Eye-tracking Pupil change Pupil dynamics Pupillometry Social arousal Social attention approved by the Institutional Review Board at the University of North Carolina at Chapel Hill (IRB #21-1704). A parent or legal guardian provided written informed consent. Consent for publication: All authors have approved the manuscript for publication. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Pupil changes in response to well-controlled stimuli can be used to understand processes that regulate attention, learning, and arousal. This study investigates whether pupil dynamics to social stimuli are associated with concurrent adaptive behavior in typically developing infants. To accomplish this, we developed and assessed pupillary responses to Stimuli for Early Social Arousal and Motivation in Infants (SESAMI). METHODS: A sample of forty-six typically developing children aged six to twenty-four months were exposed to SESAMI. Infants were presented with either dynamic social faces or non-social stimuli that controlled for luminance, motion, and auditory exposure. A multi-level mixed effects model was used to fit pupillary response functions (PRFs) that measure the change in pupil size over time as the infants fixate on either a socially dynamic face or a non-social control. This model produces separate social and non-social PRFs for both the population and each individual. An average individual deviation score from the population PRF was calculated separately for social and non-social trials yielding the pupil response index (PRI). Vineland Adaptive Behavior Scales (VABS) were regressed on social and non-social individual PRIs while controlling for age and average fixation time. We tested whether the social PRI was a statistically significant predictor of adaptive behavior by comparing the model predicted VABS scores with observed scores. RESULTS: An increase in PRI to social stimuli was significantly associated with better adaptive behaviors in typically developing children between 6 and 24 months of age. CONCLUSIONS: SESAMI combined with pupillometry and multi-level mixed effects modeling, provides a novel and scalable framework for quantifying individual differences in pupil changes in response to social stimuli relative to a population-level baseline. By demonstrating that pupil response indices during social fixations predict adaptive behaviors, we lay the foundation to test how these measures may help identify infants with intellectual and developmental disorders. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09628-2. En ligne : https://dx.doi.org/10.1186/s11689-025-09628-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

