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

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders / Gregory COSTAIN in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 3 p. Titre : Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders Type de document : texte imprimé Auteurs : Gregory COSTAIN, Auteur ; Susan WALKER, Auteur ; Bob ARGIROPOULOS, Auteur ; Danielle A. BARIBEAU, Auteur ; Anne S. BASSETT, Auteur ; Erik BOOT, Auteur ; Koenraad DEVRIENDT, Auteur ; Barbara KELLAM, Auteur ; Christian R. MARSHALL, Auteur ; Aparna PRASAD, Auteur ; Moises A. SERRANO, Auteur ; Dimitri J. STAVROPOULOS, Auteur ; Hope TWEDE, Auteur ; Joris R. VERMEESCH, Auteur ; Jacob A.S. VORSTMAN, Auteur ; Stephen SCHERER, Auteur Article en page(s) : 3 p. Langues : Anglais (eng) Mots-clés : Adhd  Autism  Copy number variation  Dmxl2  Grik5  Genome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based whole-genome sequencing (WGS) with detailed phenotype data can enable novel gene associations in NDDs. METHODS: We performed WGS of six members from a three-generation family, where three individuals each had a spectrum of features suggestive of a NDD. CNVs and sequence-level variants were identified and further investigated in disease and control databases. RESULTS: We identified a novel 252-kb deletion at 15q21 that overlaps the synaptic gene DMXL2 and the gene GLDN. The microdeletion segregated in NDD-affected individuals. Additional rare inherited and de novo sequence-level variants were found that may also be involved, including a missense change in GRIK5. Multiple CNVs and loss-of-function sequence variants affecting DMXL2 were discovered in additional unrelated individuals with a range of NDDs. CONCLUSIONS: Disruption of DMXL2 may predispose to NDDs including autism spectrum disorder. The robust interpretation of private variants requires a multifaceted approach that incorporates multigenerational pedigrees and genome-wide and population-scale data. En ligne : http://dx.doi.org/10.1186/s11689-019-9263-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders [texte imprimé] / Gregory COSTAIN, Auteur ; Susan WALKER, Auteur ; Bob ARGIROPOULOS, Auteur ; Danielle A. BARIBEAU, Auteur ; Anne S. BASSETT, Auteur ; Erik BOOT, Auteur ; Koenraad DEVRIENDT, Auteur ; Barbara KELLAM, Auteur ; Christian R. MARSHALL, Auteur ; Aparna PRASAD, Auteur ; Moises A. SERRANO, Auteur ; Dimitri J. STAVROPOULOS, Auteur ; Hope TWEDE, Auteur ; Joris R. VERMEESCH, Auteur ; Jacob A.S. VORSTMAN, Auteur ; Stephen SCHERER, Auteur . - 3 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 3 p. Mots-clés : Adhd  Autism  Copy number variation  Dmxl2  Grik5  Genome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based whole-genome sequencing (WGS) with detailed phenotype data can enable novel gene associations in NDDs. METHODS: We performed WGS of six members from a three-generation family, where three individuals each had a spectrum of features suggestive of a NDD. CNVs and sequence-level variants were identified and further investigated in disease and control databases. RESULTS: We identified a novel 252-kb deletion at 15q21 that overlaps the synaptic gene DMXL2 and the gene GLDN. The microdeletion segregated in NDD-affected individuals. Additional rare inherited and de novo sequence-level variants were found that may also be involved, including a missense change in GRIK5. Multiple CNVs and loss-of-function sequence variants affecting DMXL2 were discovered in additional unrelated individuals with a range of NDDs. CONCLUSIONS: Disruption of DMXL2 may predispose to NDDs including autism spectrum disorder. The robust interpretation of private variants requires a multifaceted approach that incorporates multigenerational pedigrees and genome-wide and population-scale data. En ligne : http://dx.doi.org/10.1186/s11689-019-9263-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

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