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) . - 12p. Titre : Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank Type de document : Texte imprimé et/ou numérique 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 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) : 12p. 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 et/ou numérique] / 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 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 . - 12p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 12p. 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

Child and caregiver predictors of primary caregiver participation in families of school-aged Autistic children / Josephine BARBARO ; Katy UNWIN ; Megan CLARK ; Rachel JELLETT ; Perrin DATE ; Melanie MUNIANDY ; Cheryl DISSANAYAKE in Autism Research, 17-7 (July 2024)  

Public ISBD [article]  inAutism Research > 17-7 (July 2024) . - p.1475-1486 Titre : Child and caregiver predictors of primary caregiver participation in families of school-aged Autistic children Type de document : Texte imprimé et/ou numérique Auteurs : Josephine BARBARO, Auteur ; Katy UNWIN, Auteur ; Megan CLARK, Auteur ; Rachel JELLETT, Auteur ; Perrin DATE, Auteur ; Melanie MUNIANDY, Auteur ; Cheryl DISSANAYAKE, Auteur Article en page(s) : p.1475-1486 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Engaging in meaningful activities (e.g., leisure, spiritual, fitness) significantly affects caregivers' quality of life (QoL), yet the determinants of participation in caregivers of Autistic children remain largely unknown. The current study examined child and caregiver correlates of primary caregiver participation in meaningful activities. One hundred and six primary caregivers of Autistic children (7-12?years) were recruited from three unique cohorts of Autistic children in this cross-sectional study. Primary caregivers completed online questionnaires measuring occupational gaps (i.e., desired activities caregivers are not participating in), QoL, parenting stress, perceived family outcomes, and social support. In addition to undertaking direct assessments of children's cognition and language, primary caregivers also reported on their child's adaptive behavior, social-emotional skills, and participation. Caregivers reporting fewer occupational gaps (i.e., ?2 desired activities) were more likely to have Autistic children with no co-occurring conditions, who were older, and with better adaptive behaviors, social-emotional skills, and more frequent home and school participation, compared to caregivers reporting many gaps (i.e., ?3 desired activities). Caregivers with fewer occupational gaps also reported improved QoL, parenting stress, social support, perceived community inclusiveness, and family outcomes. Logistic regression analysis identified child age, child adaptive behavior, social-emotional skills, home participation, and the caregivers' perceived family outcomes and QoL as important predictors of their occupational gaps. The findings demonstrate that caregiver participation in desired activities was associated with increased functional ability and independence of the child, as well as their perceived capacity to meet their child's needs. Supporting parents' sense of efficacy in meeting their children's needs and building their skills and knowledge will serve to improve both caregiver and child outcomes. En ligne : https://dx.doi.org/https://doi.org/10.1002/aur.3166 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=533 [article] Child and caregiver predictors of primary caregiver participation in families of school-aged Autistic children [Texte imprimé et/ou numérique] / Josephine BARBARO, Auteur ; Katy UNWIN, Auteur ; Megan CLARK, Auteur ; Rachel JELLETT, Auteur ; Perrin DATE, Auteur ; Melanie MUNIANDY, Auteur ; Cheryl DISSANAYAKE, Auteur . - p.1475-1486. Langues : Anglais (eng) in Autism Research > 17-7 (July 2024) . - p.1475-1486 Index. décimale : PER Périodiques Résumé : Abstract Engaging in meaningful activities (e.g., leisure, spiritual, fitness) significantly affects caregivers' quality of life (QoL), yet the determinants of participation in caregivers of Autistic children remain largely unknown. The current study examined child and caregiver correlates of primary caregiver participation in meaningful activities. One hundred and six primary caregivers of Autistic children (7-12?years) were recruited from three unique cohorts of Autistic children in this cross-sectional study. Primary caregivers completed online questionnaires measuring occupational gaps (i.e., desired activities caregivers are not participating in), QoL, parenting stress, perceived family outcomes, and social support. In addition to undertaking direct assessments of children's cognition and language, primary caregivers also reported on their child's adaptive behavior, social-emotional skills, and participation. Caregivers reporting fewer occupational gaps (i.e., ?2 desired activities) were more likely to have Autistic children with no co-occurring conditions, who were older, and with better adaptive behaviors, social-emotional skills, and more frequent home and school participation, compared to caregivers reporting many gaps (i.e., ?3 desired activities). Caregivers with fewer occupational gaps also reported improved QoL, parenting stress, social support, perceived community inclusiveness, and family outcomes. Logistic regression analysis identified child age, child adaptive behavior, social-emotional skills, home participation, and the caregivers' perceived family outcomes and QoL as important predictors of their occupational gaps. The findings demonstrate that caregiver participation in desired activities was associated with increased functional ability and independence of the child, as well as their perceived capacity to meet their child's needs. Supporting parents' sense of efficacy in meeting their children's needs and building their skills and knowledge will serve to improve both caregiver and child outcomes. En ligne : https://dx.doi.org/https://doi.org/10.1002/aur.3166 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=533

Fatigue, Stress and Coping in Mothers of Children with an Autism Spectrum Disorder / Monique SEYMOUR in Journal of Autism and Developmental Disorders, 43-7 (July 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-7 (July 2013) . - p.1547-1554 Titre : Fatigue, Stress and Coping in Mothers of Children with an Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Monique SEYMOUR, Auteur ; Catherine WOOD, Auteur ; Rebecca GIALLO, Auteur ; Rachel JELLETT, Auteur Année de publication : 2013 Article en page(s) : p.1547-1554 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Fatigue  Maladaptive coping  Child problematic behaviours  Maternal stress Index. décimale : PER Périodiques Résumé : Raising a child with an autism spectrum disorder (ASD) can be exhausting, which has the potential to impact on parental health and wellbeing. The current study investigated the influence of maternal fatigue and coping on the relationship between children’s problematic behaviours and maternal stress for 65 mothers of young children (aged 2–5 years) with ASDs. Results showed that maternal fatigue but not maladaptive coping mediated the relationship between problematic child behaviours and maternal stress. These findings suggest child behaviour difficulties may contribute to parental fatigue, which in turn may influence use of ineffective coping strategies and increased stress. The significance of fatigue on maternal wellbeing was highlighted as an important area for consideration in families of children with an ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1701-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 [article] Fatigue, Stress and Coping in Mothers of Children with an Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Monique SEYMOUR, Auteur ; Catherine WOOD, Auteur ; Rebecca GIALLO, Auteur ; Rachel JELLETT, Auteur . - 2013 . - p.1547-1554. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-7 (July 2013) . - p.1547-1554 Mots-clés : Autism spectrum disorder  Fatigue  Maladaptive coping  Child problematic behaviours  Maternal stress Index. décimale : PER Périodiques Résumé : Raising a child with an autism spectrum disorder (ASD) can be exhausting, which has the potential to impact on parental health and wellbeing. The current study investigated the influence of maternal fatigue and coping on the relationship between children’s problematic behaviours and maternal stress for 65 mothers of young children (aged 2–5 years) with ASDs. Results showed that maternal fatigue but not maladaptive coping mediated the relationship between problematic child behaviours and maternal stress. These findings suggest child behaviour difficulties may contribute to parental fatigue, which in turn may influence use of ineffective coping strategies and increased stress. The significance of fatigue on maternal wellbeing was highlighted as an important area for consideration in families of children with an ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1701-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202

Fatigue, wellbeing and parental self-efficacy in mothers of children with an Autism Spectrum Disorder / Rebecca GIALLO in Autism, 17-4 (July 2013)  

Public ISBD [article]  inAutism > 17-4 (July 2013) . - p.465-480 Titre : Fatigue, wellbeing and parental self-efficacy in mothers of children with an Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Rebecca GIALLO, Auteur ; Catherine E WOOD, Auteur ; Rachel JELLETT, Auteur ; Rachelle PORTER, Auteur Article en page(s) : p.465-480 Langues : Anglais (eng) Mots-clés : Mothers  wellbeing  fatigue  parenting  parental self-efficacy  autism Index. décimale : PER Périodiques Résumé : Raising a child with an Autism Spectrum Disorder (ASD) presents significant challenges for parents that potentially have a impact on their health and wellbeing. The current study examined the extent to which parents experience fatigue and its relationship to other aspects of wellbeing and parenting. Fifty mothers of children with an ASD aged 2–5 years participated in the study. Compared with mothers of typically developing children, mothers of children with an ASD reported significantly higher fatigue, with overall scores in the moderate range. Factors associated with high levels of fatigue were poor maternal sleep quality, a high need for social support and poor quality of physical activity. Fatigue was also significantly related to other aspects of wellbeing, including stress, anxiety and depression, and lower parenting efficacy and satisfaction. The need for interventions to specifically target parental fatigue and its impact on families affected by ASDs both in the short and long term is clearly indicated. En ligne : http://dx.doi.org/10.1177/1362361311416830 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=206 [article] Fatigue, wellbeing and parental self-efficacy in mothers of children with an Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Rebecca GIALLO, Auteur ; Catherine E WOOD, Auteur ; Rachel JELLETT, Auteur ; Rachelle PORTER, Auteur . - p.465-480. Langues : Anglais (eng) in Autism > 17-4 (July 2013) . - p.465-480 Mots-clés : Mothers  wellbeing  fatigue  parenting  parental self-efficacy  autism Index. décimale : PER Périodiques Résumé : Raising a child with an Autism Spectrum Disorder (ASD) presents significant challenges for parents that potentially have a impact on their health and wellbeing. The current study examined the extent to which parents experience fatigue and its relationship to other aspects of wellbeing and parenting. Fifty mothers of children with an ASD aged 2–5 years participated in the study. Compared with mothers of typically developing children, mothers of children with an ASD reported significantly higher fatigue, with overall scores in the moderate range. Factors associated with high levels of fatigue were poor maternal sleep quality, a high need for social support and poor quality of physical activity. Fatigue was also significantly related to other aspects of wellbeing, including stress, anxiety and depression, and lower parenting efficacy and satisfaction. The need for interventions to specifically target parental fatigue and its impact on families affected by ASDs both in the short and long term is clearly indicated. En ligne : http://dx.doi.org/10.1177/1362361311416830 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=206

"It Defines Who I Am" or "It's Something I Have": What Language Do [Autistic] Australian Adults [on the Autism Spectrum] Prefer? / Rachel JELLETT ; Jennifer R. SPOOR ; Darren HEDLEY in Journal of Autism and Developmental Disorders, 53-2 (February 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-2 (February 2023) . - p.677-687 Titre : "It Defines Who I Am" or "It's Something I Have": What Language Do [Autistic] Australian Adults [on the Autism Spectrum] Prefer? Type de document : Texte imprimé et/ou numérique Auteurs : Rachel JELLETT, Auteur ; Jennifer R. SPOOR, Auteur ; Darren HEDLEY, Auteur Article en page(s) : p.677-687 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : There has been a recent shift from person-first to identity-first language to describe autism. In this study, Australian adults who reported having a diagnosis of autism (N = 198) rated and ranked autism-terms for preference and offensiveness, and explained their choice in free-text. 'Autistic', 'Person on the Autism Spectrum', and 'Autistic Person' were rated most preferred and least offensive overall. Ranked-means showed 'person on the autism spectrum' was the most preferred term overall. Six qualitative themes reflected (1) autism as core to, or (2) part of one's identity, (3) 'spectrum' reflecting diversity, (4) the rejection of stigmatising and (5) medicalised language, and (6) pragmatics. These findings highlight the importance of inclusive dialogue regarding individual language preference. En ligne : https://doi.org/10.1007/s10803-020-04425-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=495 [article] "It Defines Who I Am" or "It's Something I Have": What Language Do [Autistic] Australian Adults [on the Autism Spectrum] Prefer? [Texte imprimé et/ou numérique] / Rachel JELLETT, Auteur ; Jennifer R. SPOOR, Auteur ; Darren HEDLEY, Auteur . - p.677-687. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-2 (February 2023) . - p.677-687 Index. décimale : PER Périodiques Résumé : There has been a recent shift from person-first to identity-first language to describe autism. In this study, Australian adults who reported having a diagnosis of autism (N = 198) rated and ranked autism-terms for preference and offensiveness, and explained their choice in free-text. 'Autistic', 'Person on the Autism Spectrum', and 'Autistic Person' were rated most preferred and least offensive overall. Ranked-means showed 'person on the autism spectrum' was the most preferred term overall. Six qualitative themes reflected (1) autism as core to, or (2) part of one's identity, (3) 'spectrum' reflecting diversity, (4) the rejection of stigmatising and (5) medicalised language, and (6) pragmatics. These findings highlight the importance of inclusive dialogue regarding individual language preference. En ligne : https://doi.org/10.1007/s10803-020-04425-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=495

Leisure, community, workforce participation and quality of life in primary and secondary caregivers of autistic children / Gemma DAVY in Autism Research, 17-4 (April 2024)  

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Parent resolution of diagnosis and intervention fidelity in a parent-delivered intervention for pre-school children with autism: A mixed methods study / Paula GROGAN in Research in Autism Spectrum Disorders, 101 (March 2023)  

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Understanding language preference: Autism knowledge, experience of stigma and autism identity / Simon M BURY in Autism, 27-6 (August 2023)  

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Women seeking an autism diagnosis in Australia: A qualitative exploration of factors that help and hinder / Sarah MURPHY in Autism, 27-3 (April 2023)  

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