Are there differences in the behavioural phenotypes of Autism Spectrum Disorder probands from simplex and multiplex families? / Lauren J. TAYLOR in Research in Autism Spectrum Disorders, 11 (March 2015)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 11 (March 2015) . - p.56-62 Titre : Are there differences in the behavioural phenotypes of Autism Spectrum Disorder probands from simplex and multiplex families? Type de document : texte imprimé Auteurs : Lauren J. TAYLOR, Auteur ; Murray T. MAYBERY, Auteur ; John WRAY, Auteur ; David RAVINE, Auteur ; Anna HUNT, Auteur ; Andrew J.O. WHITEHOUSE, Auteur Article en page(s) : p.56-62 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Behavioural phenotype  Simplex and multiplex families Index. décimale : PER Périodiques Résumé : Recent research suggests that different genetic pathways may operate for families with one child affected with Autism Spectrum Disorder (simplex ASD), compared to families that have multiple affected children (multiplex ASD). In this study, we investigated possible differences in the behavioural phenotypes of probands from simplex and multiplex ASD families using parent-report and standardised behavioural measures. Participants were 59 probands from multiplex ASD families (28 families), who were each matched on chronological age and sex with two probands from simplex families. Probands from multiplex families had greater social impairment (measured using the Social Responsiveness Scale) and worse pragmatic language (on the Children's Communication Checklist-2) than probands from simplex families. However, the multiplex children had less severe symptoms than the simplex children on the ADOS-G, and a significantly higher proportion of multiplex children did not meet autism spectrum cut-offs on this measure. These findings indicate that there are behavioural differences in children with ASD from simplex and multiplex families. In addition, the results reveal an important discrepancy between parent-report and clinician observation of autistic-like characteristics in siblings of an affected child, which may have implications for the assessment and diagnosis of ASD. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.12.003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=260 [article] Are there differences in the behavioural phenotypes of Autism Spectrum Disorder probands from simplex and multiplex families? [texte imprimé] / Lauren J. TAYLOR, Auteur ; Murray T. MAYBERY, Auteur ; John WRAY, Auteur ; David RAVINE, Auteur ; Anna HUNT, Auteur ; Andrew J.O. WHITEHOUSE, Auteur . - p.56-62. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 11 (March 2015) . - p.56-62 Mots-clés : Autism Spectrum Disorder  Behavioural phenotype  Simplex and multiplex families Index. décimale : PER Périodiques Résumé : Recent research suggests that different genetic pathways may operate for families with one child affected with Autism Spectrum Disorder (simplex ASD), compared to families that have multiple affected children (multiplex ASD). In this study, we investigated possible differences in the behavioural phenotypes of probands from simplex and multiplex ASD families using parent-report and standardised behavioural measures. Participants were 59 probands from multiplex ASD families (28 families), who were each matched on chronological age and sex with two probands from simplex families. Probands from multiplex families had greater social impairment (measured using the Social Responsiveness Scale) and worse pragmatic language (on the Children's Communication Checklist-2) than probands from simplex families. However, the multiplex children had less severe symptoms than the simplex children on the ADOS-G, and a significantly higher proportion of multiplex children did not meet autism spectrum cut-offs on this measure. These findings indicate that there are behavioural differences in children with ASD from simplex and multiplex families. In addition, the results reveal an important discrepancy between parent-report and clinician observation of autistic-like characteristics in siblings of an affected child, which may have implications for the assessment and diagnosis of ASD. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.12.003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=260

Brief Report: Do the Nature of Communication Impairments in Autism Spectrum Disorders Relate to the Broader Autism Phenotype in Parents? / Lauren J. TAYLOR in Journal of Autism and Developmental Disorders, 43-12 (December 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-12 (December 2013) . - p.2984-2989 Titre : Brief Report: Do the Nature of Communication Impairments in Autism Spectrum Disorders Relate to the Broader Autism Phenotype in Parents? Type de document : texte imprimé Auteurs : Lauren J. TAYLOR, Auteur ; Murray T. MAYBERY, Auteur ; John WRAY, Auteur ; David RAVINE, Auteur ; Anna HUNT, Auteur ; Andrew J.O. WHITEHOUSE, Auteur Article en page(s) : p.2984-2989 Langues : Anglais (eng) Mots-clés : Heritable language phenotype  Broader autism phenotype  Communication impairment Index. décimale : PER Périodiques Résumé : Extensive empirical evidence indicates that the lesser variant of Autism Spectrum Disorders (ASD) involves a communication impairment that is similar to, but milder than, the deficit in clinical ASD. This research explored the relationship between the broader autism phenotype (BAP) among parents, an index of genetic liability for ASD, and proband communication difficulties. ASD probands with at least one BAP parent (identified using the Autism Spectrum Quotient) had greater structural and pragmatic language difficulties (assessed using the Children’s Communication Checklist-2) than ASD probands with no BAP parent. This finding provides support for the position that genetic liability for ASD is associated with increased communication difficulties across structural and pragmatic domains. En ligne : http://dx.doi.org/10.1007/s10803-013-1838-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=218 [article] Brief Report: Do the Nature of Communication Impairments in Autism Spectrum Disorders Relate to the Broader Autism Phenotype in Parents? [texte imprimé] / Lauren J. TAYLOR, Auteur ; Murray T. MAYBERY, Auteur ; John WRAY, Auteur ; David RAVINE, Auteur ; Anna HUNT, Auteur ; Andrew J.O. WHITEHOUSE, Auteur . - p.2984-2989. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-12 (December 2013) . - p.2984-2989 Mots-clés : Heritable language phenotype  Broader autism phenotype  Communication impairment Index. décimale : PER Périodiques Résumé : Extensive empirical evidence indicates that the lesser variant of Autism Spectrum Disorders (ASD) involves a communication impairment that is similar to, but milder than, the deficit in clinical ASD. This research explored the relationship between the broader autism phenotype (BAP) among parents, an index of genetic liability for ASD, and proband communication difficulties. ASD probands with at least one BAP parent (identified using the Autism Spectrum Quotient) had greater structural and pragmatic language difficulties (assessed using the Children’s Communication Checklist-2) than ASD probands with no BAP parent. This finding provides support for the position that genetic liability for ASD is associated with increased communication difficulties across structural and pragmatic domains. En ligne : http://dx.doi.org/10.1007/s10803-013-1838-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=218

Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder / Anne MASI in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 63p. Titre : Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder Type de document : texte imprimé Auteurs : Anne MASI, Auteur ; Edmond J. BREEN, Auteur ; Gail A. ALVARES, Auteur ; Nicholas GLOZIER, Auteur ; Ian B. HICKIE, Auteur ; Anna HUNT, Auteur ; Jennie HUI, Auteur ; John BEILBY, Auteur ; David RAVINE, Auteur ; John WRAY, Auteur ; Andrew J.O. WHITEHOUSE, Auteur ; Adam J. GUASTELLA, Auteur Article en page(s) : 63p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Behavior  Cytokine  Pediatric  Severity Index. décimale : PER Périodiques Résumé : Background: Autism spectrum disorders (ASDs) are complex, pervasive, and heterogeneous neurodevelopmental conditions with varying trajectories, significant male bias and largely unknown etiology. However, an understanding of the biological mechanisms driving pathophysiology is evolving. Immune system aberrations, as identified through cytokine profiles, are believed to have a role in ASD. Altered cytokine levels may facilitate identification of ASD subtypes as well as provide biological markers of response to effective treatments. Research exploring the relationship between cytokine profiles and ASD symptoms is, however, in its infancy. The objective of this study was to explore relationships between cytokine levels and the severity of ASD and other clinical traits. Methods: Multiplex assay techniques were used to measure levels of 27 cytokines in plasma samples from a cohort of 144 children diagnosed with ASD. Results: Overall, results showed a significant negative association between platelet-derived growth factor (PDGF)-BB, and the severity of ASD symptoms. Furthermore, a significant interaction with sex suggested a different immune profile for females compared to males. ASD symptom severity was negatively associated with levels of 4 cytokines, IL-1beta, IL-8, MIP-1beta, and VEGF, in females, but not in males. Conclusions: Results of the present study suggest that an altered cytokine response or profile is associated with the severity of ASD-related symptoms, with sex a potential modifier of this relationship. Further research in larger populations which recognizes the importance of sex comparisons and longitudinal assessments are now required to extend and further describe the role of the immune system in ASD. En ligne : http://dx.doi.org/10.1186/s13229-017-0176-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330 [article] Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder [texte imprimé] / Anne MASI, Auteur ; Edmond J. BREEN, Auteur ; Gail A. ALVARES, Auteur ; Nicholas GLOZIER, Auteur ; Ian B. HICKIE, Auteur ; Anna HUNT, Auteur ; Jennie HUI, Auteur ; John BEILBY, Auteur ; David RAVINE, Auteur ; John WRAY, Auteur ; Andrew J.O. WHITEHOUSE, Auteur ; Adam J. GUASTELLA, Auteur . - 63p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 63p. Mots-clés : Autism spectrum disorder  Behavior  Cytokine  Pediatric  Severity Index. décimale : PER Périodiques Résumé : Background: Autism spectrum disorders (ASDs) are complex, pervasive, and heterogeneous neurodevelopmental conditions with varying trajectories, significant male bias and largely unknown etiology. However, an understanding of the biological mechanisms driving pathophysiology is evolving. Immune system aberrations, as identified through cytokine profiles, are believed to have a role in ASD. Altered cytokine levels may facilitate identification of ASD subtypes as well as provide biological markers of response to effective treatments. Research exploring the relationship between cytokine profiles and ASD symptoms is, however, in its infancy. The objective of this study was to explore relationships between cytokine levels and the severity of ASD and other clinical traits. Methods: Multiplex assay techniques were used to measure levels of 27 cytokines in plasma samples from a cohort of 144 children diagnosed with ASD. Results: Overall, results showed a significant negative association between platelet-derived growth factor (PDGF)-BB, and the severity of ASD symptoms. Furthermore, a significant interaction with sex suggested a different immune profile for females compared to males. ASD symptom severity was negatively associated with levels of 4 cytokines, IL-1beta, IL-8, MIP-1beta, and VEGF, in females, but not in males. Conclusions: Results of the present study suggest that an altered cytokine response or profile is associated with the severity of ASD-related symptoms, with sex a potential modifier of this relationship. Further research in larger populations which recognizes the importance of sex comparisons and longitudinal assessments are now required to extend and further describe the role of the immune system in ASD. En ligne : http://dx.doi.org/10.1186/s13229-017-0176-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330

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