Linkage of whole genome sequencing and administrative health data in autism: A proof of concept study / Danielle A. BARIBEAU in Autism Research, 16-8 (August 2023)  

Public ISBD [article]  inAutism Research > 16-8 (August 2023) . - p.1600-1608 Titre : Linkage of whole genome sequencing and administrative health data in autism: A proof of concept study Type de document : texte imprimé Auteurs : Danielle A. BARIBEAU, Auteur ; Jasleen ARNEJA, Auteur ; Xuesong WANG, Auteur ; Jennifer HOWE, Auteur ; John R. MCLAUGHLIN, Auteur ; Karen TU, Auteur ; Jun GUAN, Auteur ; Alana IABONI, Auteur ; Elizabeth KELLEY, Auteur ; Muhammad AYUB, Auteur ; Robert NICOLSON, Auteur ; Stelios GEORGIADES, Auteur ; Stephen SCHERER, Auteur ; Susan E. BRONSKILL, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Jennifer D. BROOKS, Auteur Article en page(s) : p.1600-1608 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Whether genetic testing in autism can help understand longitudinal health outcomes and health service needs is unclear. The objective of this study was to determine whether carrying an autism-associated rare genetic variant is associated with differences in health system utilization by autistic children and youth. This retrospective cohort study examined 415 autistic children/youth who underwent genome sequencing and data collection through a translational neuroscience program (Province of Ontario Neurodevelopmental Disorders Network). Participant data were linked to provincial health administrative databases to identify historical health service utilization, health care costs, and complex chronic medical conditions during a 3-year period. Health administrative data were compared between participants with and without a rare genetic variant in at least 1 of 74 genes associated with autism. Participants with a rare variant impacting an autism-associated gene (n=83, 20%) were less likely to have received psychiatric care (at least one psychiatrist visit: 19.3% vs. 34.3%, p=0.01; outpatient mental health visit: 66% vs. 77%, p=0.04). Health care costs were similar between groups (median: $5589 vs. $4938, p=0.4) and genetic status was not associated with odds of being a high-cost participant (top 20%) in this cohort. There were no differences in the proportion with complex chronic medical conditions between those with and without an autism-associated genetic variant. Our study highlights the feasibility and potential value of genomic and health system data linkage to understand health service needs, disparities, and health trajectories in individuals with neurodevelopmental conditions. En ligne : https://doi.org/10.1002/aur.2999 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=510 [article] Linkage of whole genome sequencing and administrative health data in autism: A proof of concept study [texte imprimé] / Danielle A. BARIBEAU, Auteur ; Jasleen ARNEJA, Auteur ; Xuesong WANG, Auteur ; Jennifer HOWE, Auteur ; John R. MCLAUGHLIN, Auteur ; Karen TU, Auteur ; Jun GUAN, Auteur ; Alana IABONI, Auteur ; Elizabeth KELLEY, Auteur ; Muhammad AYUB, Auteur ; Robert NICOLSON, Auteur ; Stelios GEORGIADES, Auteur ; Stephen SCHERER, Auteur ; Susan E. BRONSKILL, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Jennifer D. BROOKS, Auteur . - p.1600-1608. Langues : Anglais (eng) in Autism Research > 16-8 (August 2023) . - p.1600-1608 Index. décimale : PER Périodiques Résumé : Abstract Whether genetic testing in autism can help understand longitudinal health outcomes and health service needs is unclear. The objective of this study was to determine whether carrying an autism-associated rare genetic variant is associated with differences in health system utilization by autistic children and youth. This retrospective cohort study examined 415 autistic children/youth who underwent genome sequencing and data collection through a translational neuroscience program (Province of Ontario Neurodevelopmental Disorders Network). Participant data were linked to provincial health administrative databases to identify historical health service utilization, health care costs, and complex chronic medical conditions during a 3-year period. Health administrative data were compared between participants with and without a rare genetic variant in at least 1 of 74 genes associated with autism. Participants with a rare variant impacting an autism-associated gene (n=83, 20%) were less likely to have received psychiatric care (at least one psychiatrist visit: 19.3% vs. 34.3%, p=0.01; outpatient mental health visit: 66% vs. 77%, p=0.04). Health care costs were similar between groups (median: $5589 vs. $4938, p=0.4) and genetic status was not associated with odds of being a high-cost participant (top 20%) in this cohort. There were no differences in the proportion with complex chronic medical conditions between those with and without an autism-associated genetic variant. Our study highlights the feasibility and potential value of genomic and health system data linkage to understand health service needs, disparities, and health trajectories in individuals with neurodevelopmental conditions. En ligne : https://doi.org/10.1002/aur.2999 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=510

Performance of the Social Responsiveness Scale-2 for the Assessment of Autistic Behaviors in a Sample of Canadian Preschool-Aged Children / Adele CARTY in Journal of Autism and Developmental Disorders, 55-11 (November 2025)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 55-11 (November 2025) . - p.4068-4080 Titre : Performance of the Social Responsiveness Scale-2 for the Assessment of Autistic Behaviors in a Sample of Canadian Preschool-Aged Children Type de document : texte imprimé Auteurs : Adele CARTY, Auteur ; Rivka GREEN, Auteur ; Carly V. GOODMAN, Auteur ; John R. MCLAUGHLIN, Auteur ; Howard HU, Auteur ; Bruce P. LANPHEAR, Auteur ; Gina MUCKLE, Auteur ; Christine TILL, Auteur Article en page(s) : p.4068-4080 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Behavioral traits of autism spectrum disorder (ASD) typically present in early childhood, underscoring the importance of screening tools for the early identification of ASD. The current study compared scores on the Social Responsiveness Scale-Second Edition (SRS-2) Preschool Form between the US standardization sample (n = 247) and a Canadian cohort of preschool-aged children (n = 595) recruited from the Maternal-Infant Research on Environmental Chemicals (MIREC) study. In the MIREC sample, we examined whether ASD-like traits are correlated with sociodemographic characteristics and child intellectual abilities, and how maternal ratings of social skills assessed by the SRS-2 are associated with maternal ratings of general problem behaviors. Mean total SRS-2 raw score was significantly lower in the MIREC sample (mean = 29.7, SD = 15.8) compared to the US standardization sample (mean = 41.9, SD = 26.0). Total raw score in the US standardization sample did not significantly differ between males (mean = 40.6, SD = 23.1) and females (mean = 42.8, SD = 28.7), whereas in the MIREC sample the total raw score was significantly higher among males (mean = 33.0, SD = 17.1) than females (mean = 26.6, SD = 13.9). A significantly larger proportion of the MIREC sample was White, younger in age, and had more educated parents compared to the US standardization sample. ASD-like traits were correlated with lower intellectual abilities, a less enriched home environment, more behavioral problems, and poorer adaptive skills. SRS-2 Preschool Form scores were significantly lower in the Canadian sample compared to the US standardization sample, which may reflect demographic differences between the two groups. Girls may be under-identified when SRS-2 Preschool Form norms are used for screening ASD. En ligne : https://doi.org/10.1007/s10803-024-06487-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=570 [article] Performance of the Social Responsiveness Scale-2 for the Assessment of Autistic Behaviors in a Sample of Canadian Preschool-Aged Children [texte imprimé] / Adele CARTY, Auteur ; Rivka GREEN, Auteur ; Carly V. GOODMAN, Auteur ; John R. MCLAUGHLIN, Auteur ; Howard HU, Auteur ; Bruce P. LANPHEAR, Auteur ; Gina MUCKLE, Auteur ; Christine TILL, Auteur . - p.4068-4080. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 55-11 (November 2025) . - p.4068-4080 Index. décimale : PER Périodiques Résumé : Behavioral traits of autism spectrum disorder (ASD) typically present in early childhood, underscoring the importance of screening tools for the early identification of ASD. The current study compared scores on the Social Responsiveness Scale-Second Edition (SRS-2) Preschool Form between the US standardization sample (n = 247) and a Canadian cohort of preschool-aged children (n = 595) recruited from the Maternal-Infant Research on Environmental Chemicals (MIREC) study. In the MIREC sample, we examined whether ASD-like traits are correlated with sociodemographic characteristics and child intellectual abilities, and how maternal ratings of social skills assessed by the SRS-2 are associated with maternal ratings of general problem behaviors. Mean total SRS-2 raw score was significantly lower in the MIREC sample (mean = 29.7, SD = 15.8) compared to the US standardization sample (mean = 41.9, SD = 26.0). Total raw score in the US standardization sample did not significantly differ between males (mean = 40.6, SD = 23.1) and females (mean = 42.8, SD = 28.7), whereas in the MIREC sample the total raw score was significantly higher among males (mean = 33.0, SD = 17.1) than females (mean = 26.6, SD = 13.9). A significantly larger proportion of the MIREC sample was White, younger in age, and had more educated parents compared to the US standardization sample. ASD-like traits were correlated with lower intellectual abilities, a less enriched home environment, more behavioral problems, and poorer adaptive skills. SRS-2 Preschool Form scores were significantly lower in the Canadian sample compared to the US standardization sample, which may reflect demographic differences between the two groups. Girls may be under-identified when SRS-2 Preschool Form norms are used for screening ASD. En ligne : https://doi.org/10.1007/s10803-024-06487-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=570

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