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

Deconstructing the repetitive behaviour phenotype in autism spectrum disorder through a large population-based analysis / Mirko ULJAREVIĆ in Journal of Child Psychology and Psychiatry, 61-9 (September 2020)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 61-9 (September 2020) . - p.1030-1042 Titre : Deconstructing the repetitive behaviour phenotype in autism spectrum disorder through a large population-based analysis Type de document : texte imprimé Auteurs : Mirko ULJAREVIĆ, Auteur ; Matthew N. COOPER, Auteur ; Keely BEBBINGTON, Auteur ; Emma J. GLASSON, Auteur ; Murray T. MAYBERY, Auteur ; Kandice J. VARCIN, Auteur ; Gail A. ALVARES, Auteur ; John WRAY, Auteur ; Susan R. LEEKAM, Auteur ; Andrew J.O. WHITEHOUSE, Auteur Article en page(s) : p.1030-1042 Langues : Anglais (eng) Mots-clés : Repetitive behaviours  autism  social and communication impairments Index. décimale : PER Périodiques Résumé : OBJECTIVE: Restricted and repetitive pattern of behaviours and interests (RRB) are a cardinal feature of autism spectrum disorder (ASD), but there remains uncertainty about how these diverse behaviours vary according to individual characteristics. This study provided the largest exploration to date of the relationship between Repetitive Motor Behaviours, Rigidity/Insistence on Sameness and Circumscribed Interests with other individual characteristics in newly diagnosed individuals with ASD. METHOD: Participants (N = 3,647; 17.7% females; Mage = 6.6 years [SD = 4.7]) were part of the Western Australian (WA) Register for ASD, an independent, prospective collection of demographic and diagnostic data of newly diagnosed cases of ASD in WA. Diagnosticians rated each of the DSM-IV-TR criteria on a 4-point Likert severity scale, and here we focused on the Repetitive Motor Behaviours, Insistence on Sameness and Circumscribed Interests symptoms. RESULTS: The associations between RRB domains, indexed by Kendall's Tau, were weak, ranging from non-significant for both Circumscribed Interests and Repetitive Motor Behaviours to significant (.20) for Insistence on Sameness and Repetitive Motor Behaviours. Older age at diagnosis was significantly associated with lower Circumscribed Interests and significantly associated with higher Insistence on Sameness and Repetitive Motor Behaviours. Male sex was significantly associated with higher Repetitive Motor Behaviours but not Insistence on Sameness or Circumscribed Interests. CONCLUSIONS: The pattern of associations identified in this study provides suggestive evidence for the distinctiveness of Repetitive Motor Behaviours, Insistence on Sameness and Circumscribed Interests, highlighting the potential utility of RRB domains for stratifying the larger ASD population into smaller, more phenotypically homogeneous subgroups that can help to facilitate efforts to understand diverse ASD aetiology and inform design of future interventions. En ligne : http://dx.doi.org/10.1111/jcpp.13203 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 [article] Deconstructing the repetitive behaviour phenotype in autism spectrum disorder through a large population-based analysis [texte imprimé] / Mirko ULJAREVIĆ, Auteur ; Matthew N. COOPER, Auteur ; Keely BEBBINGTON, Auteur ; Emma J. GLASSON, Auteur ; Murray T. MAYBERY, Auteur ; Kandice J. VARCIN, Auteur ; Gail A. ALVARES, Auteur ; John WRAY, Auteur ; Susan R. LEEKAM, Auteur ; Andrew J.O. WHITEHOUSE, Auteur . - p.1030-1042. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 61-9 (September 2020) . - p.1030-1042 Mots-clés : Repetitive behaviours  autism  social and communication impairments Index. décimale : PER Périodiques Résumé : OBJECTIVE: Restricted and repetitive pattern of behaviours and interests (RRB) are a cardinal feature of autism spectrum disorder (ASD), but there remains uncertainty about how these diverse behaviours vary according to individual characteristics. This study provided the largest exploration to date of the relationship between Repetitive Motor Behaviours, Rigidity/Insistence on Sameness and Circumscribed Interests with other individual characteristics in newly diagnosed individuals with ASD. METHOD: Participants (N = 3,647; 17.7% females; Mage = 6.6 years [SD = 4.7]) were part of the Western Australian (WA) Register for ASD, an independent, prospective collection of demographic and diagnostic data of newly diagnosed cases of ASD in WA. Diagnosticians rated each of the DSM-IV-TR criteria on a 4-point Likert severity scale, and here we focused on the Repetitive Motor Behaviours, Insistence on Sameness and Circumscribed Interests symptoms. RESULTS: The associations between RRB domains, indexed by Kendall's Tau, were weak, ranging from non-significant for both Circumscribed Interests and Repetitive Motor Behaviours to significant (.20) for Insistence on Sameness and Repetitive Motor Behaviours. Older age at diagnosis was significantly associated with lower Circumscribed Interests and significantly associated with higher Insistence on Sameness and Repetitive Motor Behaviours. Male sex was significantly associated with higher Repetitive Motor Behaviours but not Insistence on Sameness or Circumscribed Interests. CONCLUSIONS: The pattern of associations identified in this study provides suggestive evidence for the distinctiveness of Repetitive Motor Behaviours, Insistence on Sameness and Circumscribed Interests, highlighting the potential utility of RRB domains for stratifying the larger ASD population into smaller, more phenotypically homogeneous subgroups that can help to facilitate efforts to understand diverse ASD aetiology and inform design of future interventions. En ligne : http://dx.doi.org/10.1111/jcpp.13203 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430

Evidence of a reduction over time in the behavioral severity of autistic disorder diagnoses / Andrew J.O. WHITEHOUSE in Autism Research, 10-1 (January 2017)  

Public ISBD [article]  inAutism Research > 10-1 (January 2017) . - p.179-187 Titre : Evidence of a reduction over time in the behavioral severity of autistic disorder diagnoses Type de document : texte imprimé Auteurs : Andrew J.O. WHITEHOUSE, Auteur ; Matthew N. COOPER, Auteur ; Keely BEBBINGTON, Auteur ; Gail A. ALVARES, Auteur ; Ashleigh LIN, Auteur ; John WRAY, Auteur ; Emma J. GLASSON, Auteur Article en page(s) : p.179-187 Langues : Anglais (eng) Mots-clés : autistic disorder  autism spectrum disorder  epidemiology  diagnosis  prevalence Index. décimale : PER Périodiques Résumé : The increasing prevalence of Autism Spectrum Disorders (ASD) may in part be due to a shift in the diagnostic threshold that has led to individuals with a less severe behavioral phenotype receiving a clinical diagnosis. This study examined whether there were changes over time in the qualitative and quantitative phenotype of individuals who received the diagnosis of Autistic Disorder. Data were from a prospective register of new diagnoses in Western Australia (n = 1252). From 2000 to 2006, we examined differences in both the percentage of newly diagnosed cases that met each criterion as well as severity ratings of the behaviors observed (not met, partially met, mild/moderate and extreme). Linear regression determined there was a statistically significant reduction from 2000 to 2006 in the percentage of new diagnoses meeting two of 12 criteria. There was also a reduction across the study period in the proportion of new cases rated as having extreme severity on six criteria. There was a reduction in the proportion of individuals with three or more criteria rated as extreme from 2000 (16.0%) to 2006 (1.6%), while percentage of new cases with no “extreme” rating on any criteria increased from 58.5% to 86.6% across the same period. This study provides the first clear evidence of a reduction over time in the behavioral severity of individuals diagnosed with Autistic Disorder during a period of stability in diagnostic criteria. A shift toward diagnosing individuals with less severe behavioral symptoms may have contributed to the increasing prevalence of Autistic Disorder diagnoses. En ligne : http://dx.doi.org/10.1002/aur.1740 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303 [article] Evidence of a reduction over time in the behavioral severity of autistic disorder diagnoses [texte imprimé] / Andrew J.O. WHITEHOUSE, Auteur ; Matthew N. COOPER, Auteur ; Keely BEBBINGTON, Auteur ; Gail A. ALVARES, Auteur ; Ashleigh LIN, Auteur ; John WRAY, Auteur ; Emma J. GLASSON, Auteur . - p.179-187. Langues : Anglais (eng) in Autism Research > 10-1 (January 2017) . - p.179-187 Mots-clés : autistic disorder  autism spectrum disorder  epidemiology  diagnosis  prevalence Index. décimale : PER Périodiques Résumé : The increasing prevalence of Autism Spectrum Disorders (ASD) may in part be due to a shift in the diagnostic threshold that has led to individuals with a less severe behavioral phenotype receiving a clinical diagnosis. This study examined whether there were changes over time in the qualitative and quantitative phenotype of individuals who received the diagnosis of Autistic Disorder. Data were from a prospective register of new diagnoses in Western Australia (n = 1252). From 2000 to 2006, we examined differences in both the percentage of newly diagnosed cases that met each criterion as well as severity ratings of the behaviors observed (not met, partially met, mild/moderate and extreme). Linear regression determined there was a statistically significant reduction from 2000 to 2006 in the percentage of new diagnoses meeting two of 12 criteria. There was also a reduction across the study period in the proportion of new cases rated as having extreme severity on six criteria. There was a reduction in the proportion of individuals with three or more criteria rated as extreme from 2000 (16.0%) to 2006 (1.6%), while percentage of new cases with no “extreme” rating on any criteria increased from 58.5% to 86.6% across the same period. This study provides the first clear evidence of a reduction over time in the behavioral severity of individuals diagnosed with Autistic Disorder during a period of stability in diagnostic criteria. A shift toward diagnosing individuals with less severe behavioral symptoms may have contributed to the increasing prevalence of Autistic Disorder diagnoses. En ligne : http://dx.doi.org/10.1002/aur.1740 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303

Get it right, make it easy, see it all: Viewpoints of autistic individuals and parents of autistic individuals about the autism diagnostic process in Australia / Emily D'ARCY in Research in Autism Spectrum Disorders, 85 (July 2021)  

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Investigating associations between birth order and autism diagnostic phenotypes / Gail A. ALVARES in Journal of Child Psychology and Psychiatry, 62-8 (August 2021)  

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Obesity and associated factors in youth with an autism spectrum disorder / Joanna GRANICH in Autism, 20-8 (November 2016)  

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Parent-Child Interactions May Help to Explain Relations Between Parent Characteristics and Clinically Observed Child Autistic Behaviours / Murray T. MAYBERY ; Josephine BARBARO ; Cheryl DISSANAYAKE ; Jonathan GREEN ; Kristelle HUDRY ; Teresa IACONO ; Vicky SLONIMS ; Kandice J. VARCIN ; Ming Wai WAN ; John WRAY ; Andrew J.O. WHITEHOUSE in Journal of Autism and Developmental Disorders, 54-7 (July 2024)  

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Prevalence of Motor Difficulties in Autism Spectrum Disorder: Analysis of a Population-Based Cohort / Melissa K. LICARI in Autism Research, 13-2 (February 2020)  

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Randomised Controlled Trial of a Therapeutic Playgroup for Children with Developmental Delays / Jodie ARMSTRONG in Journal of Autism and Developmental Disorders, 51-4 (April 2021)  

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The misnomer of 'high functioning autism': Intelligence is an imprecise predictor of functional abilities at diagnosis / Gail A. ALVARES in Autism, 24-1 (January 2020)  

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