Accuracy of a 2-minute eye-tracking assessment to differentiate young children with and without autism / Kristelle HUDRY in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 36 Titre : Accuracy of a 2-minute eye-tracking assessment to differentiate young children with and without autism Type de document : texte imprimé Auteurs : Kristelle HUDRY, Auteur ; Lacey CHETCUTI, Auteur ; Diana Weiting TAN, Auteur ; Alena CLARK, Auteur ; Alexandra AULICH, Auteur ; Catherine A. BENT, Auteur ; Cherie C. GREEN, Auteur ; Jodie SMITH, Auteur ; Kathryn FORDYCE, Auteur ; Masaru NINOMIYA, Auteur ; Atsushi SAITO, Auteur ; Shuji HAKOSHIMA, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; Kristelle HUDRY, Auteur ; Lacey CHETCUTI, Auteur ; Diana Weiting TAN, Auteur ; Alena CLARK, Auteur ; Alexandra AULICH, Auteur ; Catherine A. BENT, Auteur ; Cherie C. GREEN, Auteur ; Jodie SMITH, Auteur ; Kathryn FORDYCE, Auteur ; Masaru NINOMIYA, Auteur ; Atsushi SAITO, Auteur ; Shuji HAKOSHIMA, Auteur ; Andrew J. O. WHITEHOUSE, Auteur Article en page(s) : 36 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Eye-tracking could expedite autism identification/diagnosis through standardisation and objectivity. We tested whether Gazefinder autism assessment, with Classification Algorithm derived from gaze fixation durations, would have good accuracy (area under the curve [AUC] ≥ 0.80) to differentiate 2-4-year-old autistic from non-autistic children. METHODS: Community sampling (March 2019-March 2021) of 2:00–4:11 year-olds included children recruited into a diagnosed Autism Group (‘cases’) and Non-Autism ‘Control’ Group (with likely undiagnosed autism minimised). We recruited well beyond minimum necessary sample size to ensure within-group heterogeneity and allow exploratory subgroup analysis. Alongside Gazefinder eye-tracking attempted with all recruited participants, we collected parent-report measures for all children, and clinical/behavioural measures with autistic children. RESULTS: 102 autistic (81.4% male; M(age)= 44mths; SD = 8.8) and 101 non-autistic children (57.4% male; M = 40; SD = 10.5) were recruited and eligible; the former slightly older, proportionately more male, and reflecting greater socio-demographic diversity. Gazefinder autism assessment was completed with 101 non-autistic children (n = 1 returning minimal data), and attempted with 100- and completed with 96 autistic children (n = 2 not attempted following adverse responses to clinical testing; n = 4 attempted but unable to calibrate). The Non-Autism Group returned significantly more overall tracking data. The final Classification Algorithm (range 0-100; threshold score = 28.6)—derived from n = 196 children’s fixation durations to elements of social/non-social scenes, human face presentations, and referential attention trials—had AUC = 0.82 (sensitivity = 0.82, specificity = 0.70). Compared to those correctly classified, autistic children misclassified as ‘controls’ showed greater overall tracking, and less pronounced autism features and developmental disability. Compared to correctly classified non-autistic children, those misclassified as ‘cases’ were older with lower overall tracking. LIMITATIONS: Our groups differed on socio-demographic characteristics and overall tracking (included within the Classification Algorithm). We used the ‘Scene 10A’ stimulus set as provided, without update/modification. Industry employees who developed the final Algorithm were non-blinded to child group, and considered only gaze fixation durations. Community sampling and ‘case-control’ design—comparing diagnosed autistic vs. non-autistic children—could be improved via future referral-based recruitment. CONCLUSIONS: Most children tolerated Gazefinder autism assessment, and our Classification Algorithm properties approached those reported from other Gazefinder use and established clinical assessments. Independent replication is required, and research informing the most suitable clinical application of this technology. TRIAL REGISTRATION: ACTRN12619000317190 SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-025-00670-4. En ligne : https://dx.doi.org/10.1186/s13229-025-00670-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569 [article] Accuracy of a 2-minute eye-tracking assessment to differentiate young children with and without autism [texte imprimé] / Kristelle HUDRY, Auteur ; Lacey CHETCUTI, Auteur ; Diana Weiting TAN, Auteur ; Alena CLARK, Auteur ; Alexandra AULICH, Auteur ; Catherine A. BENT, Auteur ; Cherie C. GREEN, Auteur ; Jodie SMITH, Auteur ; Kathryn FORDYCE, Auteur ; Masaru NINOMIYA, Auteur ; Atsushi SAITO, Auteur ; Shuji HAKOSHIMA, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; Kristelle HUDRY, Auteur ; Lacey CHETCUTI, Auteur ; Diana Weiting TAN, Auteur ; Alena CLARK, Auteur ; Alexandra AULICH, Auteur ; Catherine A. BENT, Auteur ; Cherie C. GREEN, Auteur ; Jodie SMITH, Auteur ; Kathryn FORDYCE, Auteur ; Masaru NINOMIYA, Auteur ; Atsushi SAITO, Auteur ; Shuji HAKOSHIMA, Auteur ; Andrew J. O. WHITEHOUSE, Auteur . - 36. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 36 Index. décimale : PER Périodiques Résumé : BACKGROUND: Eye-tracking could expedite autism identification/diagnosis through standardisation and objectivity. We tested whether Gazefinder autism assessment, with Classification Algorithm derived from gaze fixation durations, would have good accuracy (area under the curve [AUC] ≥ 0.80) to differentiate 2-4-year-old autistic from non-autistic children. METHODS: Community sampling (March 2019-March 2021) of 2:00–4:11 year-olds included children recruited into a diagnosed Autism Group (‘cases’) and Non-Autism ‘Control’ Group (with likely undiagnosed autism minimised). We recruited well beyond minimum necessary sample size to ensure within-group heterogeneity and allow exploratory subgroup analysis. Alongside Gazefinder eye-tracking attempted with all recruited participants, we collected parent-report measures for all children, and clinical/behavioural measures with autistic children. RESULTS: 102 autistic (81.4% male; M(age)= 44mths; SD = 8.8) and 101 non-autistic children (57.4% male; M = 40; SD = 10.5) were recruited and eligible; the former slightly older, proportionately more male, and reflecting greater socio-demographic diversity. Gazefinder autism assessment was completed with 101 non-autistic children (n = 1 returning minimal data), and attempted with 100- and completed with 96 autistic children (n = 2 not attempted following adverse responses to clinical testing; n = 4 attempted but unable to calibrate). The Non-Autism Group returned significantly more overall tracking data. The final Classification Algorithm (range 0-100; threshold score = 28.6)—derived from n = 196 children’s fixation durations to elements of social/non-social scenes, human face presentations, and referential attention trials—had AUC = 0.82 (sensitivity = 0.82, specificity = 0.70). Compared to those correctly classified, autistic children misclassified as ‘controls’ showed greater overall tracking, and less pronounced autism features and developmental disability. Compared to correctly classified non-autistic children, those misclassified as ‘cases’ were older with lower overall tracking. LIMITATIONS: Our groups differed on socio-demographic characteristics and overall tracking (included within the Classification Algorithm). We used the ‘Scene 10A’ stimulus set as provided, without update/modification. Industry employees who developed the final Algorithm were non-blinded to child group, and considered only gaze fixation durations. Community sampling and ‘case-control’ design—comparing diagnosed autistic vs. non-autistic children—could be improved via future referral-based recruitment. CONCLUSIONS: Most children tolerated Gazefinder autism assessment, and our Classification Algorithm properties approached those reported from other Gazefinder use and established clinical assessments. Independent replication is required, and research informing the most suitable clinical application of this technology. TRIAL REGISTRATION: ACTRN12619000317190 SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-025-00670-4. En ligne : https://dx.doi.org/10.1186/s13229-025-00670-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=569

Acoustic Properties of Cries in 12-Month Old Infants at High-Risk of Autism Spectrum Disorder / Lisa M. UNWIN in Journal of Autism and Developmental Disorders, 47-7 (July 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-7 (July 2017) . - p.2108-2119 Titre : Acoustic Properties of Cries in 12-Month Old Infants at High-Risk of Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Lisa M. UNWIN, Auteur ; Ildiko BRUZ, Auteur ; Murray T. MAYBERY, Auteur ; Victoria REYNOLDS, Auteur ; Natalie CICCONE, Auteur ; Cheryl DISSANAYAKE, Auteur ; Martha HICKEY, Auteur ; Andrew J. O. WHITEHOUSE, Auteur Article en page(s) : p.2108-2119 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Crying  Infant siblings  Acoustic properties Index. décimale : PER Périodiques Résumé : There is preliminary evidence that infant siblings of children with Autism Spectrum Disorder (ASD) have an atypical pattern of cry, characterized by higher fundamental frequency and increased dysphonation. This prospective study collected multiple cry samples of 12-month old siblings of children with ASD (n = 22, ‘high-risk’ group) and 12-month olds with no family history of ASD (n = 27, ‘low risk’ group). While there was no difference between groups in the fundamental frequency or degree of phonation of the cry samples, the duration of each cry unit was significantly shorter in the high-risk siblings (p < .05). The six infant siblings who received a diagnosis of ASD at age two had amongst the shortest recorded cry durations. En ligne : https://doi.org/10.1007/s10803-017-3119-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=314 [article] Acoustic Properties of Cries in 12-Month Old Infants at High-Risk of Autism Spectrum Disorder [texte imprimé] / Lisa M. UNWIN, Auteur ; Ildiko BRUZ, Auteur ; Murray T. MAYBERY, Auteur ; Victoria REYNOLDS, Auteur ; Natalie CICCONE, Auteur ; Cheryl DISSANAYAKE, Auteur ; Martha HICKEY, Auteur ; Andrew J. O. WHITEHOUSE, Auteur . - p.2108-2119. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-7 (July 2017) . - p.2108-2119 Mots-clés : Autism spectrum disorders  Crying  Infant siblings  Acoustic properties Index. décimale : PER Périodiques Résumé : There is preliminary evidence that infant siblings of children with Autism Spectrum Disorder (ASD) have an atypical pattern of cry, characterized by higher fundamental frequency and increased dysphonation. This prospective study collected multiple cry samples of 12-month old siblings of children with ASD (n = 22, ‘high-risk’ group) and 12-month olds with no family history of ASD (n = 27, ‘low risk’ group). While there was no difference between groups in the fundamental frequency or degree of phonation of the cry samples, the duration of each cry unit was significantly shorter in the high-risk siblings (p < .05). The six infant siblings who received a diagnosis of ASD at age two had amongst the shortest recorded cry durations. En ligne : https://doi.org/10.1007/s10803-017-3119-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=314

An investigation of adherence to best practice guidelines for autism diagnosis in New Zealand / L. J. TAYLOR in Autism, 25-7 (October 2021)  

Public ISBD [article]  inAutism > 25-7 (October 2021) . - p.2087-2100 Titre : An investigation of adherence to best practice guidelines for autism diagnosis in New Zealand Type de document : texte imprimé Auteurs : L. J. TAYLOR, Auteur ; Matthew J. F. EGGLESTON, Auteur ; H. THABREW, Auteur ; L. VAN DER MEER, Auteur ; H. WADDINGTON, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; K. EVANS, Auteur Article en page(s) : p.2087-2100 Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Autistic Disorder/diagnosis  Child  Humans  New Zealand  clinical guidelines  diagnosis  implementation Index. décimale : PER Périodiques Résumé : Many clinicians in New Zealand do not follow guidelines for best practice in autism diagnosis. In this study, we investigated the processes that health professionals in New Zealand follow when diagnosing autistic children and adults. We asked 117 health professionals from a range of services and regions in New Zealand, how they identify and diagnose autism. We found that there are differences in the way that clinicians in New Zealand diagnose autism. We identified areas in which autism diagnosis in New Zealand could be improved, for example, by establishing more services to diagnose autism in adolescents and adults, and providing more consistent support after a person is diagnosed with autism. These findings will help to improve autism diagnosis in New Zealand. En ligne : http://dx.doi.org/10.1177/13623613211015757 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=451 [article] An investigation of adherence to best practice guidelines for autism diagnosis in New Zealand [texte imprimé] / L. J. TAYLOR, Auteur ; Matthew J. F. EGGLESTON, Auteur ; H. THABREW, Auteur ; L. VAN DER MEER, Auteur ; H. WADDINGTON, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; K. EVANS, Auteur . - p.2087-2100. Langues : Anglais (eng) in Autism > 25-7 (October 2021) . - p.2087-2100 Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Autistic Disorder/diagnosis  Child  Humans  New Zealand  clinical guidelines  diagnosis  implementation Index. décimale : PER Périodiques Résumé : Many clinicians in New Zealand do not follow guidelines for best practice in autism diagnosis. In this study, we investigated the processes that health professionals in New Zealand follow when diagnosing autistic children and adults. We asked 117 health professionals from a range of services and regions in New Zealand, how they identify and diagnose autism. We found that there are differences in the way that clinicians in New Zealand diagnose autism. We identified areas in which autism diagnosis in New Zealand could be improved, for example, by establishing more services to diagnose autism in adolescents and adults, and providing more consistent support after a person is diagnosed with autism. These findings will help to improve autism diagnosis in New Zealand. En ligne : http://dx.doi.org/10.1177/13623613211015757 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=451

An investigation of adherence to best practice guidelines for autism diagnosis in New Zealand / Lauren J. TAYLOR in Autism, 26-7 (October 2022)  

Public ISBD [article]  inAutism > 26-7 (October 2022) . - p.2087-2100 Titre : An investigation of adherence to best practice guidelines for autism diagnosis in New Zealand Type de document : texte imprimé Auteurs : Lauren J. TAYLOR, Auteur ; Matthew J. F. EGGLESTON, Auteur ; Hiran THABREW, Auteur ; Larah VAN DER MEER, Auteur ; Hannah WADDINGTON, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; Kiah EVANS, Auteur Article en page(s) : p.2087-2100 Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Autistic Disorder/diagnosis  Child  Humans  New Zealand  autism spectrum disorder  clinical guidelines  diagnosis  implementation Index. décimale : PER Périodiques Résumé : Many clinicians in New Zealand do not follow guidelines for best practice in autism diagnosis. In this study, we investigated the processes that health professionals in New Zealand follow when diagnosing autistic children and adults. We asked 117 health professionals from a range of services and regions in New Zealand, how they identify and diagnose autism. We found that there are differences in the way that clinicians in New Zealand diagnose autism. We identified areas in which autism diagnosis in New Zealand could be improved, for example, by establishing more services to diagnose autism in adolescents and adults, and providing more consistent support after a person is diagnosed with autism. These findings will help to improve autism diagnosis in New Zealand. En ligne : http://dx.doi.org/10.1177/13623613211015757 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=484 [article] An investigation of adherence to best practice guidelines for autism diagnosis in New Zealand [texte imprimé] / Lauren J. TAYLOR, Auteur ; Matthew J. F. EGGLESTON, Auteur ; Hiran THABREW, Auteur ; Larah VAN DER MEER, Auteur ; Hannah WADDINGTON, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; Kiah EVANS, Auteur . - p.2087-2100. Langues : Anglais (eng) in Autism > 26-7 (October 2022) . - p.2087-2100 Mots-clés : Adolescent  Adult  Autism Spectrum Disorder  Autistic Disorder/diagnosis  Child  Humans  New Zealand  autism spectrum disorder  clinical guidelines  diagnosis  implementation Index. décimale : PER Périodiques Résumé : Many clinicians in New Zealand do not follow guidelines for best practice in autism diagnosis. In this study, we investigated the processes that health professionals in New Zealand follow when diagnosing autistic children and adults. We asked 117 health professionals from a range of services and regions in New Zealand, how they identify and diagnose autism. We found that there are differences in the way that clinicians in New Zealand diagnose autism. We identified areas in which autism diagnosis in New Zealand could be improved, for example, by establishing more services to diagnose autism in adolescents and adults, and providing more consistent support after a person is diagnosed with autism. These findings will help to improve autism diagnosis in New Zealand. En ligne : http://dx.doi.org/10.1177/13623613211015757 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=484

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 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 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

Are Prenatal Ultrasound Scans Associated with the Autism Phenotype? Follow-up of a Randomised Controlled Trial / Yonit K. STOCH in Journal of Autism and Developmental Disorders, 42-12 (December 2012)  

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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)  

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Beyond the hype and hope: Critical considerations for intranasal oxytocin research in autism spectrum disorder / Gail A. ALVARES in Autism Research, 10-1 (January 2017)  

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Brief Report: An Exploratory Study of the Diagnostic Reliability for Autism Spectrum Disorder / Lauren J. TAYLOR in Journal of Autism and Developmental Disorders, 47-5 (May 2017)  

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Brief Report: Autistic-Like Traits in Childhood Predict Later Age at Menarche in Girls / Andrew J. O. WHITEHOUSE in Journal of Autism and Developmental Disorders, 41-8 (August 2011)  

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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)  

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Brief Report: Facial Asymmetry and Autistic-Like Traits in the General Population / Maryam BOUTRUS in Journal of Autism and Developmental Disorders, 51-6 (June 2021)  

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Brief Report: Further Evidence for a Link Between Inner Speech Limitations and Executive Function in High-Functioning Children with Autism Spectrum Disorders / Suzanna N. RUSSELL-SMITH in Journal of Autism and Developmental Disorders, 44-5 (May 2014)  

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Brief Report: Inner Speech Impairment in Children with Autism is Associated with Greater Nonverbal than Verbal Skills / Jane S. M. LIDSTONE in Journal of Autism and Developmental Disorders, 39-8 (August 2009)  

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Brief Report: A Preliminary Study of Fetal Head Circumference Growth in Autism Spectrum Disorder / Andrew J. O. WHITEHOUSE in Journal of Autism and Developmental Disorders, 41-1 (January 2011)  

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