Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families / Marc WOODBURY-SMITH in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.5 Titre : Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families Type de document : texte imprimé Auteurs : Marc WOODBURY-SMITH, Auteur ; Deborah A. BILDER, Auteur ; Jubel MORGAN, Auteur ; L. JEROMINSKI, Auteur ; T. DARLINGTON, Auteur ; T. DYER, Auteur ; Andrew D. PATERSON, Auteur ; Hilary COON, Auteur Article en page(s) : p.5 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Genetic association  Genome-wide linkage  Head circumference (HC) Index. décimale : PER Périodiques Résumé : BACKGROUND: It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investigate the genetic underpinning of HC in ASD, we undertook a genome-wide linkage study of HC followed by linkage signal targeted association among a sample of 67 extended pedigrees with ASD. METHODS: HC measurements on members of 67 multiplex ASD extended pedigrees were used as a quantitative trait in a genome-wide linkage analysis. The Illumina 6K SNP linkage panel was used, and analyses were carried out using the SOLAR implemented variance components model. Loci identified in this way formed the target for subsequent association analysis using the Illumina OmniExpress chip and imputed genotypes. A modification of the qTDT was used as implemented in SOLAR. RESULTS: We identified a linkage signal spanning 6p21.31 to 6p22.2 (maximum LOD = 3.4). Although targeted association did not find evidence of association with any SNP overall, in one family with the strongest evidence of linkage, there was evidence for association (rs17586672, p = 1.72E-07). CONCLUSIONS: Although this region does not overlap with ASD linkage signals in these same samples, it has been associated with other psychiatric risk, including ADHD, developmental dyslexia, schizophrenia, specific language impairment, and juvenile bipolar disorder. The genome-wide significant linkage signal represents the first reported observation of a potential quantitative trait locus for HC in ASD and may be relevant in the context of complex multivariate risk likely leading to ASD. En ligne : http://dx.doi.org/10.1186/s11689-017-9187-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 [article] Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families [texte imprimé] / Marc WOODBURY-SMITH, Auteur ; Deborah A. BILDER, Auteur ; Jubel MORGAN, Auteur ; L. JEROMINSKI, Auteur ; T. DARLINGTON, Auteur ; T. DYER, Auteur ; Andrew D. PATERSON, Auteur ; Hilary COON, Auteur . - p.5. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.5 Mots-clés : Autism spectrum disorder (ASD)  Genetic association  Genome-wide linkage  Head circumference (HC) Index. décimale : PER Périodiques Résumé : BACKGROUND: It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investigate the genetic underpinning of HC in ASD, we undertook a genome-wide linkage study of HC followed by linkage signal targeted association among a sample of 67 extended pedigrees with ASD. METHODS: HC measurements on members of 67 multiplex ASD extended pedigrees were used as a quantitative trait in a genome-wide linkage analysis. The Illumina 6K SNP linkage panel was used, and analyses were carried out using the SOLAR implemented variance components model. Loci identified in this way formed the target for subsequent association analysis using the Illumina OmniExpress chip and imputed genotypes. A modification of the qTDT was used as implemented in SOLAR. RESULTS: We identified a linkage signal spanning 6p21.31 to 6p22.2 (maximum LOD = 3.4). Although targeted association did not find evidence of association with any SNP overall, in one family with the strongest evidence of linkage, there was evidence for association (rs17586672, p = 1.72E-07). CONCLUSIONS: Although this region does not overlap with ASD linkage signals in these same samples, it has been associated with other psychiatric risk, including ADHD, developmental dyslexia, schizophrenia, specific language impairment, and juvenile bipolar disorder. The genome-wide significant linkage signal represents the first reported observation of a potential quantitative trait locus for HC in ASD and may be relevant in the context of complex multivariate risk likely leading to ASD. En ligne : http://dx.doi.org/10.1186/s11689-017-9187-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349

Generalizability and reproducibility of functional connectivity in autism / Jace B. KING in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 27 p. Titre : Generalizability and reproducibility of functional connectivity in autism Type de document : texte imprimé Auteurs : Jace B. KING, Auteur ; Molly D.B. PRIGGE, Auteur ; Carolyn K. KING, Auteur ; Jubel MORGAN, Auteur ; Fiona WEATHERSBY, Auteur ; J. Chancellor FOX, Auteur ; Douglas C. DEAN III, Auteur ; Abigail FREEMAN, Auteur ; Joaquin Alfonso M. VILLARUZ, Auteur ; Karen L. KANE, Auteur ; Erin D. BIGLER, Auteur ; Andrew L. ALEXANDER, Auteur ; Nicholas LANGE, Auteur ; Brandon ZIELINSKI, Auteur ; Janet E. LAINHART, Auteur ; Jeffrey S. ANDERSON, Auteur Article en page(s) : 27 p. Langues : Anglais (eng) Mots-clés : Autism spectrum conditions  Functional connectivity MRI  Replicability  Reproducibility  Resting-state  fMRI Index. décimale : PER Périodiques Résumé : Background: Autism is hypothesized to represent a disorder of brain connectivity, yet patterns of atypical functional connectivity show marked heterogeneity across individuals. Methods: We used a large multi-site dataset comprised of a heterogeneous population of individuals with autism and typically developing individuals to compare a number of resting-state functional connectivity features of autism. These features were also tested in a single site sample that utilized a high-temporal resolution, long-duration resting-state acquisition technique. Results: No one method of analysis provided reproducible results across research sites, combined samples, and the high-resolution dataset. Distinct categories of functional connectivity features that differed in autism such as homotopic, default network, salience network, long-range connections, and corticostriatal connectivity, did not align with differences in clinical and behavioral traits in individuals with autism. One method, lag-based functional connectivity, was not correlated to other methods in describing patterns of resting-state functional connectivity and their relationship to autism traits. Conclusion: Overall, functional connectivity features predictive of autism demonstrated limited generalizability across sites, with consistent results only for large samples. Different types of functional connectivity features do not consistently predict different symptoms of autism. Rather, specific features that predict autism symptoms are distributed across feature types. En ligne : https://dx.doi.org/10.1186/s13229-019-0273-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408 [article] Generalizability and reproducibility of functional connectivity in autism [texte imprimé] / Jace B. KING, Auteur ; Molly D.B. PRIGGE, Auteur ; Carolyn K. KING, Auteur ; Jubel MORGAN, Auteur ; Fiona WEATHERSBY, Auteur ; J. Chancellor FOX, Auteur ; Douglas C. DEAN III, Auteur ; Abigail FREEMAN, Auteur ; Joaquin Alfonso M. VILLARUZ, Auteur ; Karen L. KANE, Auteur ; Erin D. BIGLER, Auteur ; Andrew L. ALEXANDER, Auteur ; Nicholas LANGE, Auteur ; Brandon ZIELINSKI, Auteur ; Janet E. LAINHART, Auteur ; Jeffrey S. ANDERSON, Auteur . - 27 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 27 p. Mots-clés : Autism spectrum conditions  Functional connectivity MRI  Replicability  Reproducibility  Resting-state  fMRI Index. décimale : PER Périodiques Résumé : Background: Autism is hypothesized to represent a disorder of brain connectivity, yet patterns of atypical functional connectivity show marked heterogeneity across individuals. Methods: We used a large multi-site dataset comprised of a heterogeneous population of individuals with autism and typically developing individuals to compare a number of resting-state functional connectivity features of autism. These features were also tested in a single site sample that utilized a high-temporal resolution, long-duration resting-state acquisition technique. Results: No one method of analysis provided reproducible results across research sites, combined samples, and the high-resolution dataset. Distinct categories of functional connectivity features that differed in autism such as homotopic, default network, salience network, long-range connections, and corticostriatal connectivity, did not align with differences in clinical and behavioral traits in individuals with autism. One method, lag-based functional connectivity, was not correlated to other methods in describing patterns of resting-state functional connectivity and their relationship to autism traits. Conclusion: Overall, functional connectivity features predictive of autism demonstrated limited generalizability across sites, with consistent results only for large samples. Different types of functional connectivity features do not consistently predict different symptoms of autism. Rather, specific features that predict autism symptoms are distributed across feature types. En ligne : https://dx.doi.org/10.1186/s13229-019-0273-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408

Longitudinal Stability of Intellectual Functioning in Autism Spectrum Disorder: From Age 3 Through Mid-adulthood / Molly D.B. PRIGGE in Journal of Autism and Developmental Disorders, 52-10 (October 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-10 (October 2022) . - p.4490-4504 Titre : Longitudinal Stability of Intellectual Functioning in Autism Spectrum Disorder: From Age 3 Through Mid-adulthood Type de document : texte imprimé Auteurs : Molly D.B. PRIGGE, Auteur ; Erin D. BIGLER, Auteur ; Nicholas LANGE, Auteur ; Jubel MORGAN, Auteur ; Alyson L. FROEHLICH, Auteur ; Abigail FREEMAN, Auteur ; Kristina KELLETT, Auteur ; Karen L. KANE, Auteur ; Carolyn K. KING, Auteur ; June TAYLOR, Auteur ; Douglas C. DEAN III, Auteur ; Jace B. KING, Auteur ; Jeffrey S. ANDERSON, Auteur ; Brandon A. ZIELINSKI, Auteur ; Andrew L. ALEXANDER, Auteur ; Janet E. LAINHART, Auteur Article en page(s) : p.4490-4504 Langues : Anglais (eng) Mots-clés : Asd  Autism spectrum disorder  Cognitive development  Intelligence  Longitudinal study  Stability Index. décimale : PER Périodiques Résumé : Intelligence (IQ) scores are used in educational and vocational planning for individuals with autism spectrum disorder (ASD) yet little is known about the stability of IQ throughout development. We examined longitudinal age-related IQ stability in 119 individuals with ASD (3-36 years of age at first visit) and 128 typically developing controls. Intelligence measures were collected over a 20-year period. In ASD, Full Scale (FSIQ) and Verbal (VIQ) Intelligence started lower in childhood and increased at a greater rate with age relative to the control group. By early adulthood, VIQ and working memory stabilized, whereas nonverbal and perceptual scores continued to change. Our results suggest that in individuals with ASD, IQ estimates may be dynamic in childhood and young adulthood. En ligne : http://dx.doi.org/10.1007/s10803-021-05227-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 [article] Longitudinal Stability of Intellectual Functioning in Autism Spectrum Disorder: From Age 3 Through Mid-adulthood [texte imprimé] / Molly D.B. PRIGGE, Auteur ; Erin D. BIGLER, Auteur ; Nicholas LANGE, Auteur ; Jubel MORGAN, Auteur ; Alyson L. FROEHLICH, Auteur ; Abigail FREEMAN, Auteur ; Kristina KELLETT, Auteur ; Karen L. KANE, Auteur ; Carolyn K. KING, Auteur ; June TAYLOR, Auteur ; Douglas C. DEAN III, Auteur ; Jace B. KING, Auteur ; Jeffrey S. ANDERSON, Auteur ; Brandon A. ZIELINSKI, Auteur ; Andrew L. ALEXANDER, Auteur ; Janet E. LAINHART, Auteur . - p.4490-4504. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-10 (October 2022) . - p.4490-4504 Mots-clés : Asd  Autism spectrum disorder  Cognitive development  Intelligence  Longitudinal study  Stability Index. décimale : PER Périodiques Résumé : Intelligence (IQ) scores are used in educational and vocational planning for individuals with autism spectrum disorder (ASD) yet little is known about the stability of IQ throughout development. We examined longitudinal age-related IQ stability in 119 individuals with ASD (3-36 years of age at first visit) and 128 typically developing controls. Intelligence measures were collected over a 20-year period. In ASD, Full Scale (FSIQ) and Verbal (VIQ) Intelligence started lower in childhood and increased at a greater rate with age relative to the control group. By early adulthood, VIQ and working memory stabilized, whereas nonverbal and perceptual scores continued to change. Our results suggest that in individuals with ASD, IQ estimates may be dynamic in childhood and young adulthood. En ligne : http://dx.doi.org/10.1007/s10803-021-05227-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486

Psychiatric Comorbidity and Medication Use in Adults with Autism Spectrum Disorder / Tara R. BUCK in Journal of Autism and Developmental Disorders, 44-12 (December 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-12 (December 2014) . - p.3063-3071 Titre : Psychiatric Comorbidity and Medication Use in Adults with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Tara R. BUCK, Auteur ; Joseph VISKOCHIL, Auteur ; Megan A. FARLEY, Auteur ; Hilary H. COON, Auteur ; William M. MCMAHON, Auteur ; Jubel MORGAN, Auteur ; Deborah A. BILDER, Auteur Article en page(s) : p.3063-3071 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Psychiatric comorbidity  Psychotropic medication  Intellectual disability Index. décimale : PER Périodiques Résumé : The purpose of this study was to investigate comorbid psychiatric disorders and psychotropic medication use among adults with autism spectrum disorder (ASD) ascertained as children during a 1980’s statewide Utah autism prevalence study (n = 129). Seventy-three individuals (56.6 %) met criteria for a current psychiatric disorder; 89 participants (69.0 %) met lifetime criteria for a psychiatric disorder. Caregivers reported a psychiatric diagnosis in 44 participants (34.1 %). Anxiety disorder had the highest current and lifetime prevalence (39.5 and 52.7 %, respectively). Participants with intellectual disability (n = 94, 72.8 %) were significantly less likely to have community-based diagnoses of anxiety (χ2 = 5.37, p = 0.02) or depression (χ2 = 13.18, p 0.001) reported by caregivers. Seventy-six participants (58.9 %) were taking ≥1 psychotropic medication. Comorbid psychiatric disorders occur frequently in adults with ASD, though identifying these disorders poses a challenge in community settings. A greater understanding of the presentation of these conditions within this population will increase assessment validity and the potential for efficacious intervention. En ligne : http://dx.doi.org/10.1007/s10803-014-2170-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=243 [article] Psychiatric Comorbidity and Medication Use in Adults with Autism Spectrum Disorder [texte imprimé] / Tara R. BUCK, Auteur ; Joseph VISKOCHIL, Auteur ; Megan A. FARLEY, Auteur ; Hilary H. COON, Auteur ; William M. MCMAHON, Auteur ; Jubel MORGAN, Auteur ; Deborah A. BILDER, Auteur . - p.3063-3071. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-12 (December 2014) . - p.3063-3071 Mots-clés : Autism spectrum disorder  Psychiatric comorbidity  Psychotropic medication  Intellectual disability Index. décimale : PER Périodiques Résumé : The purpose of this study was to investigate comorbid psychiatric disorders and psychotropic medication use among adults with autism spectrum disorder (ASD) ascertained as children during a 1980’s statewide Utah autism prevalence study (n = 129). Seventy-three individuals (56.6 %) met criteria for a current psychiatric disorder; 89 participants (69.0 %) met lifetime criteria for a psychiatric disorder. Caregivers reported a psychiatric diagnosis in 44 participants (34.1 %). Anxiety disorder had the highest current and lifetime prevalence (39.5 and 52.7 %, respectively). Participants with intellectual disability (n = 94, 72.8 %) were significantly less likely to have community-based diagnoses of anxiety (χ2 = 5.37, p = 0.02) or depression (χ2 = 13.18, p 0.001) reported by caregivers. Seventy-six participants (58.9 %) were taking ≥1 psychotropic medication. Comorbid psychiatric disorders occur frequently in adults with ASD, though identifying these disorders poses a challenge in community settings. A greater understanding of the presentation of these conditions within this population will increase assessment validity and the potential for efficacious intervention. En ligne : http://dx.doi.org/10.1007/s10803-014-2170-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=243

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