6 recherche sur le mot-clé 'phenotypes'

Classification of Children With Autism Spectrum Disorder by Sensory Subtype: A Case for Sensory-Based Phenotypes / Alison E. LANE in Autism Research, 7-3 (June 2014)  

Public ISBD [article]  inAutism Research > 7-3 (June 2014) . - p.322-333 Titre : Classification of Children With Autism Spectrum Disorder by Sensory Subtype: A Case for Sensory-Based Phenotypes Type de document : Texte imprimé et/ou numérique Auteurs : Alison E. LANE, Auteur ; Cynthia A. MOLLOY, Auteur ; Somer L. BISHOP, Auteur Article en page(s) : p.322-333 Langues : Anglais (eng) Mots-clés : sensory  autism  phenotypes  subtypes  children  classification  model-based cluster analysis  Short Sensory Profile Index. décimale : PER Périodiques Résumé : This study examines whether sensory differences can be used to classify meaningful subgroups of children with autism spectrum disorder (ASD). Caregivers of children with ASD aged 2–10 years (n?=?228) completed the Short Sensory Profile. Model-based cluster analysis was used to extract sensory subtypes. The relationship of these subtypes to age, gender, autism symptom severity, and nonverbal intelligence quotient (IQ) was further explored. Four distinct sensory subtypes were identified: (a) sensory adaptive; (b) taste smell sensitive; (c) postural inattentive; and (d) generalized sensory difference. The sensory subtypes differ from each other on two dimensions: (a) the severity of reported sensory differences; and (b) the focus of differences across auditory, taste, smell, vestibular and proprioceptive domains. Examination of the clinical features of each subtype reveals two possible mechanisms of sensory disturbance in autism: (a) sensory hyperreactivity; and (b) difficulties with multisensory processing. Further, the sensory subtypes are not well explained by other variables such as age, gender, IQ, and autism symptom severity. We conclude that classification of children using sensory differences offers a promising method by which to identify phenotypes in ASD. Sensory-based phenotypes may be useful in identifying behavioral features responsive to specific interventions thereby improving intervention effectiveness. Further validation of the sensory-based phenotypes by establishing neural and physiological correlates is recommended. Autism Res 2014, 7: 322–333. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1368 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=235 [article] Classification of Children With Autism Spectrum Disorder by Sensory Subtype: A Case for Sensory-Based Phenotypes [Texte imprimé et/ou numérique] / Alison E. LANE, Auteur ; Cynthia A. MOLLOY, Auteur ; Somer L. BISHOP, Auteur . - p.322-333. Langues : Anglais (eng) in Autism Research > 7-3 (June 2014) . - p.322-333 Mots-clés : sensory  autism  phenotypes  subtypes  children  classification  model-based cluster analysis  Short Sensory Profile Index. décimale : PER Périodiques Résumé : This study examines whether sensory differences can be used to classify meaningful subgroups of children with autism spectrum disorder (ASD). Caregivers of children with ASD aged 2–10 years (n?=?228) completed the Short Sensory Profile. Model-based cluster analysis was used to extract sensory subtypes. The relationship of these subtypes to age, gender, autism symptom severity, and nonverbal intelligence quotient (IQ) was further explored. Four distinct sensory subtypes were identified: (a) sensory adaptive; (b) taste smell sensitive; (c) postural inattentive; and (d) generalized sensory difference. The sensory subtypes differ from each other on two dimensions: (a) the severity of reported sensory differences; and (b) the focus of differences across auditory, taste, smell, vestibular and proprioceptive domains. Examination of the clinical features of each subtype reveals two possible mechanisms of sensory disturbance in autism: (a) sensory hyperreactivity; and (b) difficulties with multisensory processing. Further, the sensory subtypes are not well explained by other variables such as age, gender, IQ, and autism symptom severity. We conclude that classification of children using sensory differences offers a promising method by which to identify phenotypes in ASD. Sensory-based phenotypes may be useful in identifying behavioral features responsive to specific interventions thereby improving intervention effectiveness. Further validation of the sensory-based phenotypes by establishing neural and physiological correlates is recommended. Autism Res 2014, 7: 322–333. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1368 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=235

Research Review: How to interpret associations between polygenic scores, environmental risks, and phenotypes / Jean-Baptiste PINGAULT in Journal of Child Psychology and Psychiatry, 63-10 (October 2022)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 63-10 (October 2022) . - p.1125-1139 Titre : Research Review: How to interpret associations between polygenic scores, environmental risks, and phenotypes Type de document : Texte imprimé et/ou numérique Auteurs : Jean-Baptiste PINGAULT, Auteur ; Andrea G. ALLEGRINI, Auteur ; Tracy ODIGIE, Auteur ; Leonard FRACH, Auteur ; Jessie R. BALDWIN, Auteur ; Frühling V. RIJSDIJK, Auteur ; Frank DUDBRIDGE, Auteur Année de publication : 2022 Article en page(s) : p.1125-1139 Langues : Anglais (eng) Mots-clés : Cohort Studies  Environmental Exposure/adverse effects  Genetic Predisposition to Disease  Genome-Wide Association Study  Humans  Midazolam  Multifactorial Inheritance  Phenotype  Polygenic scores  biases  environment  epidemiology  phenotypes Index. décimale : PER Périodiques Résumé : BACKGROUND: Genetic influences are ubiquitous as virtually all phenotypes and most exposures typically classified as environmental have been found to be heritable. A polygenic score summarises the associations between millions of genetic variants and an outcome in a single value for each individual. Ever lowering costs have enabled the genotyping of many samples relevant to child psychology and psychiatry research, including cohort studies, leading to the proliferation of polygenic score studies. It is tempting to assume that associations detected between polygenic scores and phenotypes in those studies only reflect genetic effects. However, such associations can reflect many pathways (e.g. via environmental mediation) and biases. METHODS: Here, we provide a comprehensive overview of the many reasons why associations between polygenic scores, environmental exposures, and phenotypes exist. We include formal representations of common analyses in polygenic score studies using structural equation modelling. We derive biases, provide illustrative empirical examples and, when possible, mention steps that can be taken to alleviate those biases. RESULTS: Structural equation models and derivations show the many complexities arising from jointly modelling polygenic scores with environmental exposures and phenotypes. Counter-intuitive examples include that: (a) associations between polygenic scores and phenotypes may exist even in the absence of direct genetic effects; (b) associations between child polygenic scores and environmental exposures can exist in the absence of evocative/active gene-environment correlations; and (c) adjusting an exposure-outcome association for a polygenic score can increase rather than decrease bias. CONCLUSIONS: Strikingly, using polygenic scores may, in some cases, lead to more bias than not using them. Appropriately conducting and interpreting polygenic score studies thus requires researchers in child psychology and psychiatry and beyond to be versed in both epidemiological and genetic methods or build on interdisciplinary collaborations. En ligne : http://dx.doi.org/10.1111/jcpp.13607 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 [article] Research Review: How to interpret associations between polygenic scores, environmental risks, and phenotypes [Texte imprimé et/ou numérique] / Jean-Baptiste PINGAULT, Auteur ; Andrea G. ALLEGRINI, Auteur ; Tracy ODIGIE, Auteur ; Leonard FRACH, Auteur ; Jessie R. BALDWIN, Auteur ; Frühling V. RIJSDIJK, Auteur ; Frank DUDBRIDGE, Auteur . - 2022 . - p.1125-1139. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 63-10 (October 2022) . - p.1125-1139 Mots-clés : Cohort Studies  Environmental Exposure/adverse effects  Genetic Predisposition to Disease  Genome-Wide Association Study  Humans  Midazolam  Multifactorial Inheritance  Phenotype  Polygenic scores  biases  environment  epidemiology  phenotypes Index. décimale : PER Périodiques Résumé : BACKGROUND: Genetic influences are ubiquitous as virtually all phenotypes and most exposures typically classified as environmental have been found to be heritable. A polygenic score summarises the associations between millions of genetic variants and an outcome in a single value for each individual. Ever lowering costs have enabled the genotyping of many samples relevant to child psychology and psychiatry research, including cohort studies, leading to the proliferation of polygenic score studies. It is tempting to assume that associations detected between polygenic scores and phenotypes in those studies only reflect genetic effects. However, such associations can reflect many pathways (e.g. via environmental mediation) and biases. METHODS: Here, we provide a comprehensive overview of the many reasons why associations between polygenic scores, environmental exposures, and phenotypes exist. We include formal representations of common analyses in polygenic score studies using structural equation modelling. We derive biases, provide illustrative empirical examples and, when possible, mention steps that can be taken to alleviate those biases. RESULTS: Structural equation models and derivations show the many complexities arising from jointly modelling polygenic scores with environmental exposures and phenotypes. Counter-intuitive examples include that: (a) associations between polygenic scores and phenotypes may exist even in the absence of direct genetic effects; (b) associations between child polygenic scores and environmental exposures can exist in the absence of evocative/active gene-environment correlations; and (c) adjusting an exposure-outcome association for a polygenic score can increase rather than decrease bias. CONCLUSIONS: Strikingly, using polygenic scores may, in some cases, lead to more bias than not using them. Appropriately conducting and interpreting polygenic score studies thus requires researchers in child psychology and psychiatry and beyond to be versed in both epidemiological and genetic methods or build on interdisciplinary collaborations. En ligne : http://dx.doi.org/10.1111/jcpp.13607 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486

What will my child's future hold? phenotypes of intellectual development in 2–8?year?olds with autism spectrum disorder / Marjorie SOLOMON in Autism Research, 11-1 (January 2018)  

Public ISBD [article]  inAutism Research > 11-1 (January 2018) . - p.121-132 Titre : What will my child's future hold? phenotypes of intellectual development in 2–8?year?olds with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Marjorie SOLOMON, Auteur ; Ana?Maria IOSIF, Auteur ; P. REINHARDT VANESSA, Auteur ; E. LIBERO LAUREN, Auteur ; Christine W. NORDAHL, Auteur ; Sally OZONOFF, Auteur ; Sally J ROGERS, Auteur ; David G. AMARAL, Auteur Article en page(s) : p.121-132 Langues : Anglais (eng) Mots-clés : intellectual development  phenotypes  longitudinal  ASD  IQ  early childhood  autism spectrum disorder Index. décimale : PER Périodiques Résumé : We examined phenotypes of autism spectrum disorder (ASD) based on trajectories of intellectual development from early (ages 2?3 ½) to middle (ages 5?8) childhood in a recent clinically ascertained cohort. Participants included 102 children (82 males) initially diagnosed with ASD from the Autism Phenome Project longitudinal sample. Latent class growth analysis was used to identify distinct IQ trajectories. Baseline and developmental course differences among groups were assessed using univariate techniques and repeated measures regression models, respectively. A four class model best represented the data. Using the highest posterior probability, participants were assigned to High Challenges (25.5%), Stable Low (17.6%), Changers (35.3%), and Lesser Challenges (21.6%) groups. The High Challenges and Stable Low groups exhibited persistently low IQ, although, the High Challenges group experienced declines while the Stable Low group's scores remained more constant. Changers showed IQ improvement of >?2 standard deviations. The Lesser Challenges group had IQs in the average range at both times that were about 1 standard deviation higher at T2. In summation, 75% of the participants experienced some relative improvements in intellectual and/or other areas of functioning between ages 2 and 8 years. The Changers group demonstrated the most significant IQ change that was accompanied by adaptive communication improvement and declining externalizing symptoms. Only the Lesser Challenges group showed a significant reduction in ASD symptom severity, such that by age 8, 14% of them no longer met ADOS?2 criteria for ASD. All groups showed reductions in internalizing symptoms. Intervention history was not associated with group status. Autism Res 2018, 11: 121?132. ? 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary We examined how the IQs of children with autism spectrum disorder change between ages 2 and 8, and identified four patterns. Two groups exhibited persistently lower IQs. One group showed IQ increases of greater than 30 points with improved communicate abilities and declining disruptive behaviors. The final group had IQs in the average or better range at both time points, and 14% of them lost their diagnoses. Over half of the children experienced improved intellectual functioning between ages 2 and 8, whereas about 25% showed declines. Findings were not associated with intervention history. En ligne : https://doi.org/10.1002/aur.1884 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=334 [article] What will my child's future hold? phenotypes of intellectual development in 2–8?year?olds with autism spectrum disorder [Texte imprimé et/ou numérique] / Marjorie SOLOMON, Auteur ; Ana?Maria IOSIF, Auteur ; P. REINHARDT VANESSA, Auteur ; E. LIBERO LAUREN, Auteur ; Christine W. NORDAHL, Auteur ; Sally OZONOFF, Auteur ; Sally J ROGERS, Auteur ; David G. AMARAL, Auteur . - p.121-132. Langues : Anglais (eng) in Autism Research > 11-1 (January 2018) . - p.121-132 Mots-clés : intellectual development  phenotypes  longitudinal  ASD  IQ  early childhood  autism spectrum disorder Index. décimale : PER Périodiques Résumé : We examined phenotypes of autism spectrum disorder (ASD) based on trajectories of intellectual development from early (ages 2?3 ½) to middle (ages 5?8) childhood in a recent clinically ascertained cohort. Participants included 102 children (82 males) initially diagnosed with ASD from the Autism Phenome Project longitudinal sample. Latent class growth analysis was used to identify distinct IQ trajectories. Baseline and developmental course differences among groups were assessed using univariate techniques and repeated measures regression models, respectively. A four class model best represented the data. Using the highest posterior probability, participants were assigned to High Challenges (25.5%), Stable Low (17.6%), Changers (35.3%), and Lesser Challenges (21.6%) groups. The High Challenges and Stable Low groups exhibited persistently low IQ, although, the High Challenges group experienced declines while the Stable Low group's scores remained more constant. Changers showed IQ improvement of >?2 standard deviations. The Lesser Challenges group had IQs in the average range at both times that were about 1 standard deviation higher at T2. In summation, 75% of the participants experienced some relative improvements in intellectual and/or other areas of functioning between ages 2 and 8 years. The Changers group demonstrated the most significant IQ change that was accompanied by adaptive communication improvement and declining externalizing symptoms. Only the Lesser Challenges group showed a significant reduction in ASD symptom severity, such that by age 8, 14% of them no longer met ADOS?2 criteria for ASD. All groups showed reductions in internalizing symptoms. Intervention history was not associated with group status. Autism Res 2018, 11: 121?132. ? 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary We examined how the IQs of children with autism spectrum disorder change between ages 2 and 8, and identified four patterns. Two groups exhibited persistently lower IQs. One group showed IQ increases of greater than 30 points with improved communicate abilities and declining disruptive behaviors. The final group had IQs in the average or better range at both time points, and 14% of them lost their diagnoses. Over half of the children experienced improved intellectual functioning between ages 2 and 8, whereas about 25% showed declines. Findings were not associated with intervention history. En ligne : https://doi.org/10.1002/aur.1884 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=334

Using Standardized Diagnostic Instruments to Classify Children with Autism in the Study to Explore Early Development / Lisa D. WIGGINS in Journal of Autism and Developmental Disorders, 45-5 (May 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-5 (May 2015) . - p.1271-1280 Titre : Using Standardized Diagnostic Instruments to Classify Children with Autism in the Study to Explore Early Development Type de document : Texte imprimé et/ou numérique Auteurs : Lisa D. WIGGINS, Auteur ; Ann REYNOLDS, Auteur ; Catherine E. RICE, Auteur ; Eric J. MOODY, Auteur ; Pilar BERNAL, Auteur ; Lisa BLASKEY, Auteur ; Steven A. ROSENBERG, Auteur ; Li-Ching LEE, Auteur ; Susan E. LEVY, Auteur Article en page(s) : p.1271-1280 Langues : Anglais (eng) Mots-clés : ADI-R  ADOS  Autism  Classification  Phenotypes  Study methods Index. décimale : PER Périodiques Résumé : The Study to Explore Early Development (SEED) is a multi-site case–control study designed to explore the relationship between autism spectrum disorder (ASD) phenotypes and etiologies. The goals of this paper are to (1) describe the SEED algorithm that uses the Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) to classify children with ASD, (2) examine psychometric properties of different ASD classification methods, including the SEED method that incorporates rules for resolving ADI-R and ADOS discordance, and (3) determine whether restricted interests and repetitive behaviors were noted for children who had instrument discordance resolved using ADI-R social and communication scores. Results support the utility of SEED criteria when well-defined groups of children are an important clinical or research outcome. En ligne : http://dx.doi.org/10.1007/s10803-014-2287-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259 [article] Using Standardized Diagnostic Instruments to Classify Children with Autism in the Study to Explore Early Development [Texte imprimé et/ou numérique] / Lisa D. WIGGINS, Auteur ; Ann REYNOLDS, Auteur ; Catherine E. RICE, Auteur ; Eric J. MOODY, Auteur ; Pilar BERNAL, Auteur ; Lisa BLASKEY, Auteur ; Steven A. ROSENBERG, Auteur ; Li-Ching LEE, Auteur ; Susan E. LEVY, Auteur . - p.1271-1280. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-5 (May 2015) . - p.1271-1280 Mots-clés : ADI-R  ADOS  Autism  Classification  Phenotypes  Study methods Index. décimale : PER Périodiques Résumé : The Study to Explore Early Development (SEED) is a multi-site case–control study designed to explore the relationship between autism spectrum disorder (ASD) phenotypes and etiologies. The goals of this paper are to (1) describe the SEED algorithm that uses the Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) to classify children with ASD, (2) examine psychometric properties of different ASD classification methods, including the SEED method that incorporates rules for resolving ADI-R and ADOS discordance, and (3) determine whether restricted interests and repetitive behaviors were noted for children who had instrument discordance resolved using ADI-R social and communication scores. Results support the utility of SEED criteria when well-defined groups of children are an important clinical or research outcome. En ligne : http://dx.doi.org/10.1007/s10803-014-2287-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259

Homogeneous Subgroups of Young Children with Autism Improve Phenotypic Characterization in the Study to Explore Early Development / Lisa D. WIGGINS in Journal of Autism and Developmental Disorders, 47-11 (November 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-11 (November 2017) . - p.3634-3645 Titre : Homogeneous Subgroups of Young Children with Autism Improve Phenotypic Characterization in the Study to Explore Early Development Type de document : Texte imprimé et/ou numérique Auteurs : Lisa D. WIGGINS, Auteur ; L. H. TIAN, Auteur ; S. E. LEVY, Auteur ; C. RICE, Auteur ; L. C. LEE, Auteur ; Laura A. SCHIEVE, Auteur ; J. PANDEY, Auteur ; J. DANIELS, Auteur ; Lisa BLASKEY, Auteur ; S. HEPBURN, Auteur ; R. LANDA, Auteur ; R. EDMONDSON-PRETZEL, Auteur ; W. THOMPSON, Auteur Article en page(s) : p.3634-3645 Langues : Anglais (eng) Mots-clés : Autism  Autism spectrum disorder  Characterization  Phenotypes  Subgroups Index. décimale : PER Périodiques Résumé : The objective of this study was to identify homogenous classes of young children with autism spectrum disorder (ASD) to improve phenotypic characterization. Children were enrolled in the Study to Explore Early Development between 2 and 5 years of age. 707 children were classified with ASD after a comprehensive evaluation with strict diagnostic algorithms. Four classes of children with ASD were identified from latent class analysis: mild language delay with cognitive rigidity, mild language and motor delay with dysregulation, general developmental delay, and significant developmental delay with repetitive motor behaviors. We conclude that a four-class phenotypic model of children with ASD best describes our data and improves phenotypic characterization of young children with ASD. Implications for screening, diagnosis, and research are discussed. En ligne : http://dx.doi.org/10.1007/s10803-017-3280-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325 [article] Homogeneous Subgroups of Young Children with Autism Improve Phenotypic Characterization in the Study to Explore Early Development [Texte imprimé et/ou numérique] / Lisa D. WIGGINS, Auteur ; L. H. TIAN, Auteur ; S. E. LEVY, Auteur ; C. RICE, Auteur ; L. C. LEE, Auteur ; Laura A. SCHIEVE, Auteur ; J. PANDEY, Auteur ; J. DANIELS, Auteur ; Lisa BLASKEY, Auteur ; S. HEPBURN, Auteur ; R. LANDA, Auteur ; R. EDMONDSON-PRETZEL, Auteur ; W. THOMPSON, Auteur . - p.3634-3645. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-11 (November 2017) . - p.3634-3645 Mots-clés : Autism  Autism spectrum disorder  Characterization  Phenotypes  Subgroups Index. décimale : PER Périodiques Résumé : The objective of this study was to identify homogenous classes of young children with autism spectrum disorder (ASD) to improve phenotypic characterization. Children were enrolled in the Study to Explore Early Development between 2 and 5 years of age. 707 children were classified with ASD after a comprehensive evaluation with strict diagnostic algorithms. Four classes of children with ASD were identified from latent class analysis: mild language delay with cognitive rigidity, mild language and motor delay with dysregulation, general developmental delay, and significant developmental delay with repetitive motor behaviors. We conclude that a four-class phenotypic model of children with ASD best describes our data and improves phenotypic characterization of young children with ASD. Implications for screening, diagnosis, and research are discussed. En ligne : http://dx.doi.org/10.1007/s10803-017-3280-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325

Using the NIH Toolbox to Assess Cognition in Adolescents and Young Adults with Autism Spectrum Disorders / Marjorie SOLOMON in Autism Research, 14-3 (March 2021)  

Permalink