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

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 et/ou numérique Auteurs : Anne MASI, Auteur ; Mohammod 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 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 et/ou numérique] / Anne MASI, Auteur ; Mohammod 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 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

Correction: Gastrointestinal, Behaviour and Anxiety Outcomes in Autistic Children Following an Open Label, Randomised Pilot Study of Synbiotics vs Synbiotics and Gut-Directed Hypnotherapy / Leanne K. Mitchell ; Helen S. HEUSSLER ; Christopher J. Burgess ; Ateequr Rehman ; Robert E. Steinert ; Peter S. W. Davies in Journal of Autism and Developmental Disorders, 55-1 (January 2025)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 55-1 (January 2025) . - p.391-391 Titre : Correction: Gastrointestinal, Behaviour and Anxiety Outcomes in Autistic Children Following an Open Label, Randomised Pilot Study of Synbiotics vs Synbiotics and Gut-Directed Hypnotherapy : Journal of Autism and Developmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Leanne K. Mitchell, Auteur ; Helen S. HEUSSLER, Auteur ; Christopher J. Burgess, Auteur ; Ateequr Rehman, Auteur ; Robert E. Steinert, Auteur ; Peter S. W. Davies, Auteur Article en page(s) : p.391-391 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://doi.org/10.1007/s10803-024-06632-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=547 [article] Correction: Gastrointestinal, Behaviour and Anxiety Outcomes in Autistic Children Following an Open Label, Randomised Pilot Study of Synbiotics vs Synbiotics and Gut-Directed Hypnotherapy : Journal of Autism and Developmental Disorders [Texte imprimé et/ou numérique] / Leanne K. Mitchell, Auteur ; Helen S. HEUSSLER, Auteur ; Christopher J. Burgess, Auteur ; Ateequr Rehman, Auteur ; Robert E. Steinert, Auteur ; Peter S. W. Davies, Auteur . - p.391-391. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 55-1 (January 2025) . - p.391-391 Index. décimale : PER Périodiques En ligne : https://doi.org/10.1007/s10803-024-06632-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=547

Exploring the Sensory Profiles of Children on the Autism Spectrum Using the Short Sensory Profile-2 (SSP-2) / K. SIMPSON in Journal of Autism and Developmental Disorders, 49-5 (May 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-5 (May 2019) . - p.2069-2079 Titre : Exploring the Sensory Profiles of Children on the Autism Spectrum Using the Short Sensory Profile-2 (SSP-2) Type de document : Texte imprimé et/ou numérique Auteurs : K. SIMPSON, Auteur ; D. ADAMS, Auteur ; C. ALSTON-KNOX, Auteur ; Helen S. HEUSSLER, Auteur ; D. KEEN, Auteur Article en page(s) : p.2069-2079 Langues : Anglais (eng) Mots-clés : Autism  Children  Sensory  Subtypes Index. décimale : PER Périodiques Résumé : The aim of this study was to identify sensory subtypes in children on the autism spectrum using the Short Sensory Profile-2 (SSP-2). Caregivers of children on the autism spectrum aged 4-11 years (n = 271) completed the SSP-2. Analysis using Dirichlet process mixture model identified a two-cluster model which provided the best solution to subtype sensory responses. Two distinct subtypes were identified: Uniformly elevated (67%) with high scores across all quadrants and Raised avoiding and sensitivity (33%) with raised scores in the avoiding and sensitivity quadrants. There were no differences between subtypes based on chronological age and autism characteristics measured using the social communication questionnaire (total score). Based on the SSP-2, children were reported to experience differences in responses to sensory input, in particular in the area of sensitivity and avoiding. En ligne : http://dx.doi.org/10.1007/s10803-019-03889-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=393 [article] Exploring the Sensory Profiles of Children on the Autism Spectrum Using the Short Sensory Profile-2 (SSP-2) [Texte imprimé et/ou numérique] / K. SIMPSON, Auteur ; D. ADAMS, Auteur ; C. ALSTON-KNOX, Auteur ; Helen S. HEUSSLER, Auteur ; D. KEEN, Auteur . - p.2069-2079. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-5 (May 2019) . - p.2069-2079 Mots-clés : Autism  Children  Sensory  Subtypes Index. décimale : PER Périodiques Résumé : The aim of this study was to identify sensory subtypes in children on the autism spectrum using the Short Sensory Profile-2 (SSP-2). Caregivers of children on the autism spectrum aged 4-11 years (n = 271) completed the SSP-2. Analysis using Dirichlet process mixture model identified a two-cluster model which provided the best solution to subtype sensory responses. Two distinct subtypes were identified: Uniformly elevated (67%) with high scores across all quadrants and Raised avoiding and sensitivity (33%) with raised scores in the avoiding and sensitivity quadrants. There were no differences between subtypes based on chronological age and autism characteristics measured using the social communication questionnaire (total score). Based on the SSP-2, children were reported to experience differences in responses to sensory input, in particular in the area of sensitivity and avoiding. En ligne : http://dx.doi.org/10.1007/s10803-019-03889-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=393

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