Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank / Chloe X. YAP in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 12 p. Titre : Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank Type de document : texte imprimé Auteurs : Chloe X. YAP, Auteur ; Gail A. ALVARES, Auteur ; Anjali K. HENDERS, Auteur ; Tian LIN, Auteur ; Leanne WALLACE, Auteur ; Alaina FARRELLY, Auteur ; Tiana MCLAREN, Auteur ; Jolene BERRY, Auteur ; Anna A.E. VINKHUYZEN, Auteur ; Maciej TRZASKOWSKI, Auteur ; Jian ZENG, Auteur ; Yuanhao YANG, Auteur ; Dominique CLEARY, Auteur ; Rachel GROVE, Auteur ; Claire HAFEKOST, Auteur ; Alexis HARUN, Auteur ; Helen HOLDSWORTH, Auteur ; Rachel JELLETT, Auteur ; Feroza KHAN, Auteur ; Lauren P. LAWSON, Auteur ; Jodie LESLIE, Auteur ; Mira LEVIS FRENK, Auteur ; Anne MASI, Auteur ; Nisha E. MATHEW, Auteur ; Melanie MUNIANDY, Auteur ; Michaela NOTHARD, Auteur ; Peter M. VISSCHER, Auteur ; Paul A. DAWSON, Auteur ; Cheryl DISSANAYAKE, Auteur ; Valsamma EAPEN, Auteur ; Helen S. HEUSSLER, Auteur ; Andrew J.O. WHITEHOUSE, Auteur ; Naomi R. WRAY, Auteur ; Jacob GRATTEN, Auteur Article en page(s) : 12 p. Langues : Anglais (eng) Mots-clés : Australian autism biobank  Autism spectrum disorder  Copy number variation  Genetics  Polygenic score Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition whose biological basis is yet to be elucidated. The Australian Autism Biobank (AAB) is an initiative of the Cooperative Research Centre for Living with Autism (Autism CRC) to establish an Australian resource of biospecimens, phenotypes and genomic data for research on autism. METHODS: Genome-wide single-nucleotide polymorphism genotypes were available for 2,477 individuals (after quality control) from 546 families (436 complete), including 886 participants aged 2 to 17 years with diagnosed (n = 871) or suspected (n = 15) ASD, 218 siblings without ASD, 1,256 parents, and 117 unrelated children without an ASD diagnosis. The genetic data were used to confirm familial relationships and assign ancestry, which was majority European (n = 1,964 European individuals). We generated polygenic scores (PGS) for ASD, IQ, chronotype and height in the subset of Europeans, and in 3,490 unrelated ancestry-matched participants from the UK Biobank. We tested for group differences for each PGS, and performed prediction analyses for related phenotypes in the AAB. We called copy-number variants (CNVs) in all participants, and intersected these with high-confidence ASD- and intellectual disability (ID)-associated CNVs and genes from the public domain. RESULTS: The ASD (p = 6.1e-13), sibling (p = 4.9e-3) and unrelated (p = 3.0e-3) groups had significantly higher ASD PGS than UK Biobank controls, whereas this was not the case for height-a control trait. The IQ PGS was a significant predictor of measured IQ in undiagnosed children (r = 0.24, p = 2.1e-3) and parents (r = 0.17, p = 8.0e-7; 4.0% of variance), but not the ASD group. Chronotype PGS predicted sleep disturbances within the ASD group (r = 0.13, p = 1.9e-3; 1.3% of variance). In the CNV analysis, we identified 13 individuals with CNVs overlapping ASD/ID-associated CNVs, and 12 with CNVs overlapping ASD/ID/developmental delay-associated genes identified on the basis of de novo variants. LIMITATIONS: This dataset is modest in size, and the publicly-available genome-wide-association-study (GWAS) summary statistics used to calculate PGS for ASD and other traits are relatively underpowered. CONCLUSIONS: We report on common genetic variation and rare CNVs within the AAB. Prediction analyses using currently available GWAS summary statistics are largely consistent with expected relationships based on published studies. As the size of publicly-available GWAS summary statistics grows, the phenotypic depth of the AAB dataset will provide many opportunities for analyses of autism profiles and co-occurring conditions, including when integrated with other omics datasets generated from AAB biospecimens (blood, urine, stool, hair). En ligne : http://dx.doi.org/10.1186/s13229-020-00407-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442 [article] Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank [texte imprimé] / Chloe X. YAP, Auteur ; Gail A. ALVARES, Auteur ; Anjali K. HENDERS, Auteur ; Tian LIN, Auteur ; Leanne WALLACE, Auteur ; Alaina FARRELLY, Auteur ; Tiana MCLAREN, Auteur ; Jolene BERRY, Auteur ; Anna A.E. VINKHUYZEN, Auteur ; Maciej TRZASKOWSKI, Auteur ; Jian ZENG, Auteur ; Yuanhao YANG, Auteur ; Dominique CLEARY, Auteur ; Rachel GROVE, Auteur ; Claire HAFEKOST, Auteur ; Alexis HARUN, Auteur ; Helen HOLDSWORTH, Auteur ; Rachel JELLETT, Auteur ; Feroza KHAN, Auteur ; Lauren P. LAWSON, Auteur ; Jodie LESLIE, Auteur ; Mira LEVIS FRENK, Auteur ; Anne MASI, Auteur ; Nisha E. MATHEW, Auteur ; Melanie MUNIANDY, Auteur ; Michaela NOTHARD, Auteur ; Peter M. VISSCHER, Auteur ; Paul A. DAWSON, Auteur ; Cheryl DISSANAYAKE, Auteur ; Valsamma EAPEN, Auteur ; Helen S. HEUSSLER, Auteur ; Andrew J.O. WHITEHOUSE, Auteur ; Naomi R. WRAY, Auteur ; Jacob GRATTEN, Auteur . - 12 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 12 p. Mots-clés : Australian autism biobank  Autism spectrum disorder  Copy number variation  Genetics  Polygenic score Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition whose biological basis is yet to be elucidated. The Australian Autism Biobank (AAB) is an initiative of the Cooperative Research Centre for Living with Autism (Autism CRC) to establish an Australian resource of biospecimens, phenotypes and genomic data for research on autism. METHODS: Genome-wide single-nucleotide polymorphism genotypes were available for 2,477 individuals (after quality control) from 546 families (436 complete), including 886 participants aged 2 to 17 years with diagnosed (n = 871) or suspected (n = 15) ASD, 218 siblings without ASD, 1,256 parents, and 117 unrelated children without an ASD diagnosis. The genetic data were used to confirm familial relationships and assign ancestry, which was majority European (n = 1,964 European individuals). We generated polygenic scores (PGS) for ASD, IQ, chronotype and height in the subset of Europeans, and in 3,490 unrelated ancestry-matched participants from the UK Biobank. We tested for group differences for each PGS, and performed prediction analyses for related phenotypes in the AAB. We called copy-number variants (CNVs) in all participants, and intersected these with high-confidence ASD- and intellectual disability (ID)-associated CNVs and genes from the public domain. RESULTS: The ASD (p = 6.1e-13), sibling (p = 4.9e-3) and unrelated (p = 3.0e-3) groups had significantly higher ASD PGS than UK Biobank controls, whereas this was not the case for height-a control trait. The IQ PGS was a significant predictor of measured IQ in undiagnosed children (r = 0.24, p = 2.1e-3) and parents (r = 0.17, p = 8.0e-7; 4.0% of variance), but not the ASD group. Chronotype PGS predicted sleep disturbances within the ASD group (r = 0.13, p = 1.9e-3; 1.3% of variance). In the CNV analysis, we identified 13 individuals with CNVs overlapping ASD/ID-associated CNVs, and 12 with CNVs overlapping ASD/ID/developmental delay-associated genes identified on the basis of de novo variants. LIMITATIONS: This dataset is modest in size, and the publicly-available genome-wide-association-study (GWAS) summary statistics used to calculate PGS for ASD and other traits are relatively underpowered. CONCLUSIONS: We report on common genetic variation and rare CNVs within the AAB. Prediction analyses using currently available GWAS summary statistics are largely consistent with expected relationships based on published studies. As the size of publicly-available GWAS summary statistics grows, the phenotypic depth of the AAB dataset will provide many opportunities for analyses of autism profiles and co-occurring conditions, including when integrated with other omics datasets generated from AAB biospecimens (blood, urine, stool, hair). En ligne : http://dx.doi.org/10.1186/s13229-020-00407-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442

Clinical and behavioral attributes leading to sleep disorders in children on the autism spectrum / Anne MASI in Autism Research, 15-7 (July 2022)  

Public ISBD [article]  inAutism Research > 15-7 (July 2022) . - p.1274-1287 Titre : Clinical and behavioral attributes leading to sleep disorders in children on the autism spectrum Type de document : texte imprimé Auteurs : Anne MASI, Auteur ; Mohammad Ali MONI, Auteur ; Syeda Ishra AZIM, Auteur ; Byungkuk CHOI, Auteur ; Helen S. HEUSSLER, Auteur ; Ping- I. LIN, Auteur ; Antonio MENDOZA DIAZ, Auteur ; Valsamma EAPEN, Auteur Article en page(s) : p.1274-1287 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  behavioral problems  children  clinical phenotypes  sleep disorders Index. décimale : PER Périodiques Résumé : Sleep disorders are a common comorbid condition in children diagnosed with autism spectrum disorder ("autism"). However, the relationship between the clinical features of autism and sleep disorders remains unclear. A better understanding of the inherent autism-related characteristics linked to comorbid sleep disorders would improve comprehensive assessment and management. This study examined the relationship between sociodemographics, autism symptoms, sleep problems, cognitive status, behavioral attributes, and sensory profiles. Using data from 1268 participants who took part in the Australian Autism Biobank, sleep-related measurements using the Child Sleep Habits Questionnaire (CSHQ) were compared between autistic children aged 2 to 17 (N = 969), their siblings (N = 188), and unrelated children without an autism diagnosis (N = 111). The known relationship between sleep problems and autism was further explored by including scores from the Autism Diagnostic Observation Schedule-2, Mullen Scales of Early Learning, Vineland Adaptive Behavioral Scale-II and the Short Sensory Profile-2; which were included in analyses for autistic participants who had a completed CSHQ. Multiple regression models were used to identify clinical/behavioral variables associated with CSHQ subscales. The autism group had a significantly higher total CSHQ score than the sibling and comparison groups (p < 0.001), indicating worse sleep quality. Within the autism group, lower adaptive behaviors (i.e., VABS-II) and sensory issues (i.e., SSP-2 subclass scores) were positively associated with the severity of sleep problems (i.e., the CSHQ subclass scores) (p < 0.001). The significant functional impact of poor sleep on autistic children warrants an assessment of sleep as a critical part of a holistic approach to supporting autistic children and their families. LAY SUMMARY: Autistic children generally have co-occurring conditions. Sleep disorders impact approximately 50%-80% of autistic children. The impact on the quality of life for both the children and their families can be significant. This study compares sleep problems in autistic children and adolescents with their siblings and children without a diagnosis of autism, and investigates the relationship between specific autistic traits, daily life behaviors and sleep problems. The findings highlight the importance of a holistic assessment for autistic children and matching appropriate sleep intervention and supports where indicated. En ligne : http://dx.doi.org/10.1002/aur.2745 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477 [article] Clinical and behavioral attributes leading to sleep disorders in children on the autism spectrum [texte imprimé] / Anne MASI, Auteur ; Mohammad Ali MONI, Auteur ; Syeda Ishra AZIM, Auteur ; Byungkuk CHOI, Auteur ; Helen S. HEUSSLER, Auteur ; Ping- I. LIN, Auteur ; Antonio MENDOZA DIAZ, Auteur ; Valsamma EAPEN, Auteur . - p.1274-1287. Langues : Anglais (eng) in Autism Research > 15-7 (July 2022) . - p.1274-1287 Mots-clés : autism spectrum disorder  behavioral problems  children  clinical phenotypes  sleep disorders Index. décimale : PER Périodiques Résumé : Sleep disorders are a common comorbid condition in children diagnosed with autism spectrum disorder ("autism"). However, the relationship between the clinical features of autism and sleep disorders remains unclear. A better understanding of the inherent autism-related characteristics linked to comorbid sleep disorders would improve comprehensive assessment and management. This study examined the relationship between sociodemographics, autism symptoms, sleep problems, cognitive status, behavioral attributes, and sensory profiles. Using data from 1268 participants who took part in the Australian Autism Biobank, sleep-related measurements using the Child Sleep Habits Questionnaire (CSHQ) were compared between autistic children aged 2 to 17 (N = 969), their siblings (N = 188), and unrelated children without an autism diagnosis (N = 111). The known relationship between sleep problems and autism was further explored by including scores from the Autism Diagnostic Observation Schedule-2, Mullen Scales of Early Learning, Vineland Adaptive Behavioral Scale-II and the Short Sensory Profile-2; which were included in analyses for autistic participants who had a completed CSHQ. Multiple regression models were used to identify clinical/behavioral variables associated with CSHQ subscales. The autism group had a significantly higher total CSHQ score than the sibling and comparison groups (p < 0.001), indicating worse sleep quality. Within the autism group, lower adaptive behaviors (i.e., VABS-II) and sensory issues (i.e., SSP-2 subclass scores) were positively associated with the severity of sleep problems (i.e., the CSHQ subclass scores) (p < 0.001). The significant functional impact of poor sleep on autistic children warrants an assessment of sleep as a critical part of a holistic approach to supporting autistic children and their families. LAY SUMMARY: Autistic children generally have co-occurring conditions. Sleep disorders impact approximately 50%-80% of autistic children. The impact on the quality of life for both the children and their families can be significant. This study compares sleep problems in autistic children and adolescents with their siblings and children without a diagnosis of autism, and investigates the relationship between specific autistic traits, daily life behaviors and sleep problems. The findings highlight the importance of a holistic assessment for autistic children and matching appropriate sleep intervention and supports where indicated. En ligne : http://dx.doi.org/10.1002/aur.2745 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477

Clinician Proposed Predictors of Spoken Language Outcomes for Minimally Verbal Children with Autism Spectrum Disorder / David TREMBATH in Journal of Autism and Developmental Disorders, 51-2 (February 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-2 (February 2021) . - p.564-575 Titre : Clinician Proposed Predictors of Spoken Language Outcomes for Minimally Verbal Children with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : David TREMBATH, Auteur ; Rebecca SUTHERLAND, Auteur ; Teena CAITHNESS, Auteur ; Cheryl DISSANAYAKE, Auteur ; Valsamma EAPEN, Auteur ; Kathryn FORDYCE, Auteur ; Grace FROST, Auteur ; Teresa IACONO, Auteur ; Nicole MAHLER, Auteur ; Anne MASI, Auteur ; Jessica PAYNTER, Auteur ; Katherine PYE, Auteur ; Sheena REILLY, Auteur ; Veronica ROSE, Auteur ; Stephanie SIEVERS, Auteur ; Abirami THIRUMANICKAM, Auteur ; Marleen F. WESTERVELD, Auteur ; Madonna TUCKER, Auteur Article en page(s) : p.564-575 Langues : Anglais (eng) Mots-clés : Autism  Communication  Minimally verbal  Predictor  Speech pathology Index. décimale : PER Périodiques Résumé : Our aim was to explore insights from clinical practice that may inform efforts to understand and account for factors that predict spoken language outcomes for children with Autism Spectrum Disorder who use minimal verbal language. We used a qualitative design involving three focus groups with 14 speech pathologists to explore their views and experiences. Using the Framework Method of analysis, we identified 9 themes accounting for 183 different participant references to potential factors. Participants highlighted the relevance of clusters of fine-grained social, communication, and learning behaviours, including novel insights into prelinguistic vocal behaviours. The participants suggested the potential value of dynamic assessment in predicting spoken language outcomes. The findings can inform efforts to developing clinically relevant methods for predicting children's communication outcomes. En ligne : http://dx.doi.org/10.1007/s10803-020-04550-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440 [article] Clinician Proposed Predictors of Spoken Language Outcomes for Minimally Verbal Children with Autism Spectrum Disorder [texte imprimé] / David TREMBATH, Auteur ; Rebecca SUTHERLAND, Auteur ; Teena CAITHNESS, Auteur ; Cheryl DISSANAYAKE, Auteur ; Valsamma EAPEN, Auteur ; Kathryn FORDYCE, Auteur ; Grace FROST, Auteur ; Teresa IACONO, Auteur ; Nicole MAHLER, Auteur ; Anne MASI, Auteur ; Jessica PAYNTER, Auteur ; Katherine PYE, Auteur ; Sheena REILLY, Auteur ; Veronica ROSE, Auteur ; Stephanie SIEVERS, Auteur ; Abirami THIRUMANICKAM, Auteur ; Marleen F. WESTERVELD, Auteur ; Madonna TUCKER, Auteur . - p.564-575. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-2 (February 2021) . - p.564-575 Mots-clés : Autism  Communication  Minimally verbal  Predictor  Speech pathology Index. décimale : PER Périodiques Résumé : Our aim was to explore insights from clinical practice that may inform efforts to understand and account for factors that predict spoken language outcomes for children with Autism Spectrum Disorder who use minimal verbal language. We used a qualitative design involving three focus groups with 14 speech pathologists to explore their views and experiences. Using the Framework Method of analysis, we identified 9 themes accounting for 183 different participant references to potential factors. Participants highlighted the relevance of clusters of fine-grained social, communication, and learning behaviours, including novel insights into prelinguistic vocal behaviours. The participants suggested the potential value of dynamic assessment in predicting spoken language outcomes. The findings can inform efforts to developing clinically relevant methods for predicting children's communication outcomes. En ligne : http://dx.doi.org/10.1007/s10803-020-04550-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440

Correction to: Spoken Language Change in Children on the Autism Spectrum Receiving Community-Based Interventions / David TREMBATH ; Matt STAINER ; Teena CAITHNESS ; Cheryl DISSANAYAKE ; Valsamma EAPEN ; Kathryn FORDYCE ; Veronica FREWER ; Grace FROST ; Kristelle HUDRY ; Teresa IACONO ; Nicole MAHLER ; Anne MASI ; Jessica PAYNTER ; Katherine PYE ; Shannon QUAN ; Leanne SHELLSHEAR ; Rebecca SUTHERLAND ; Stephanie SIEVERS ; Abirami THIRUMANICKAM ; Marleen F. WESTERVELD ; Madonna TUCKER in Journal of Autism and Developmental Disorders, 53-6 (June 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-6 (June 2023) . - p.2548-2548 Titre : Correction to: Spoken Language Change in Children on the Autism Spectrum Receiving Community-Based Interventions : Journal of Autism and Developmental Disorders Type de document : texte imprimé Auteurs : David TREMBATH, Auteur ; Matt STAINER, Auteur ; Teena CAITHNESS, Auteur ; Cheryl DISSANAYAKE, Auteur ; Valsamma EAPEN, Auteur ; Kathryn FORDYCE, Auteur ; Veronica FREWER, Auteur ; Grace FROST, Auteur ; Kristelle HUDRY, Auteur ; Teresa IACONO, Auteur ; Nicole MAHLER, Auteur ; Anne MASI, Auteur ; Jessica PAYNTER, Auteur ; Katherine PYE, Auteur ; Shannon QUAN, Auteur ; Leanne SHELLSHEAR, Auteur ; Rebecca SUTHERLAND, Auteur ; Stephanie SIEVERS, Auteur ; Abirami THIRUMANICKAM, Auteur ; Marleen F. WESTERVELD, Auteur ; Madonna TUCKER, Auteur Article en page(s) : p.2548-2548 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://doi.org/10.1007/s10803-022-05633-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=506 [article] Correction to: Spoken Language Change in Children on the Autism Spectrum Receiving Community-Based Interventions : Journal of Autism and Developmental Disorders [texte imprimé] / David TREMBATH, Auteur ; Matt STAINER, Auteur ; Teena CAITHNESS, Auteur ; Cheryl DISSANAYAKE, Auteur ; Valsamma EAPEN, Auteur ; Kathryn FORDYCE, Auteur ; Veronica FREWER, Auteur ; Grace FROST, Auteur ; Kristelle HUDRY, Auteur ; Teresa IACONO, Auteur ; Nicole MAHLER, Auteur ; Anne MASI, Auteur ; Jessica PAYNTER, Auteur ; Katherine PYE, Auteur ; Shannon QUAN, Auteur ; Leanne SHELLSHEAR, Auteur ; Rebecca SUTHERLAND, Auteur ; Stephanie SIEVERS, Auteur ; Abirami THIRUMANICKAM, Auteur ; Marleen F. WESTERVELD, Auteur ; Madonna TUCKER, Auteur . - p.2548-2548. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-6 (June 2023) . - p.2548-2548 Index. décimale : PER Périodiques En ligne : https://doi.org/10.1007/s10803-022-05633-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=506

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

Dietary intake in children on the autism spectrum is altered and linked to differences in autistic traits and sensory processing styles / Nisha E. MATHEW in Autism Research, 15-10 (October 2022)  

Permalink

Factors Impacting Parental Quality of Life in Preschool Children on the Autism Spectrum / Valsamma EAPEN in Journal of Autism and Developmental Disorders, 54-3 (March 2024)  

Permalink

Patterns of sensory modulation by age and sex in young people on the autism spectrum / Alison E. LANE in Autism Research, 15-10 (October 2022)  

Permalink

Predictors of adaptive functioning in preschool aged children with autism spectrum disorder / Marie-Antoinette HODGE in Autism Research, 14-7 (July 2021)  

Permalink

Sex Differences in the Broad Autism Phenotype: Insights from the Australian Biobank / Blaise DI MENTO in Journal of Autism and Developmental Disorders, 55-10 (October 2025)  

Permalink

Spoken Language Change in Children on the Autism Spectrum Receiving Community-Based Interventions / David TREMBATH ; Matt STAINER ; Teena CAITHNESS ; Cheryl DISSANAYAKE ; Valsamma EAPEN ; Kathryn FORDYCE ; Veronica FREWER ; Grace FROST ; Kristelle HUDRY ; Teresa IACONO ; Nicole MAHLER ; Anne MASI ; Jessica PAYNTER ; Katherine PYE ; Shannon QUAN ; Leanne SHELLSHEAR ; Rebecca SUTHERLAND ; Stephanie SIEVERS ; Abirami THIRUMANICKAM ; Marleen F. WESTERVELD ; Madonna TUCKER in Journal of Autism and Developmental Disorders, 53-6 (June 2023)  

Permalink

The search for gastrointestinal inflammation in autism: a systematic review and meta-analysis of non-invasive gastrointestinal markers / Nisha E. MATHEW in Molecular Autism, 15 (2024)  

Permalink

---

1 (1 - 12 / 12) Par page : 25 50 100 200