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Editorial: Data repositories, registries, and standards in the search for valid and reproducible biomarkers / Bradley S. PETERSON in Journal of Child Psychology and Psychiatry, 59-9 (September 2018)
[article]
Titre : Editorial: Data repositories, registries, and standards in the search for valid and reproducible biomarkers Type de document : Texte imprimé et/ou numérique Auteurs : Bradley S. PETERSON, Auteur Article en page(s) : p.929-931 Langues : Anglais (eng) Mots-clés : repositories registries standards biomarkers imaging Index. décimale : PER Périodiques Résumé : The paucity of major scientific breakthroughs leading to new or improved treatments, and the inability to identify valid and reproducible biomarkers that improve clinical management, has produced a crisis in confidence in the validity of our pathogenic theories and the reproducibility of our research findings. This crisis in turn has driven changes in standards for research methodologies and prompted calls for the creation of open-access data repositories and the preregistration of research hypotheses. Although we should embrace the creation of repositories and registries, and the promise for greater statistical power, reproducibility, and generalizability of research findings they afford, we should also recognize that they alone are no substitute for sound design in minimizing study confounds, and they are no guarantor of faith in the validity of our pathogenic theories, findings, and biomarkers. One way, and maybe the only sure way, of knowing that we have a valid understanding of brain processes and disease mechanisms in human studies is by experimentally manipulating variables and predicting its effects on outcome measures and biomarkers. En ligne : https://doi.org/10.1111/jcpp.12962 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368
in Journal of Child Psychology and Psychiatry > 59-9 (September 2018) . - p.929-931[article] Editorial: Data repositories, registries, and standards in the search for valid and reproducible biomarkers [Texte imprimé et/ou numérique] / Bradley S. PETERSON, Auteur . - p.929-931.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 59-9 (September 2018) . - p.929-931
Mots-clés : repositories registries standards biomarkers imaging Index. décimale : PER Périodiques Résumé : The paucity of major scientific breakthroughs leading to new or improved treatments, and the inability to identify valid and reproducible biomarkers that improve clinical management, has produced a crisis in confidence in the validity of our pathogenic theories and the reproducibility of our research findings. This crisis in turn has driven changes in standards for research methodologies and prompted calls for the creation of open-access data repositories and the preregistration of research hypotheses. Although we should embrace the creation of repositories and registries, and the promise for greater statistical power, reproducibility, and generalizability of research findings they afford, we should also recognize that they alone are no substitute for sound design in minimizing study confounds, and they are no guarantor of faith in the validity of our pathogenic theories, findings, and biomarkers. One way, and maybe the only sure way, of knowing that we have a valid understanding of brain processes and disease mechanisms in human studies is by experimentally manipulating variables and predicting its effects on outcome measures and biomarkers. En ligne : https://doi.org/10.1111/jcpp.12962 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries / J. WICKSTROM in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)
[article]
Titre : Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries Type de document : Texte imprimé et/ou numérique Auteurs : J. WICKSTROM, Auteur ; C. FARMER, Auteur ; LeeAnne GREEN SNYDER, Auteur ; A. R. MITZ, Auteur ; S. J. SANDERS, Auteur ; Somer L. BISHOP, Auteur ; A. THURM, Auteur Article en page(s) : p.1297-1307 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics Autistic Disorder Humans Language Motor Skills Registries copy number variant developmental phenotype intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent large-scale initiatives have led to systematically collected phenotypic data for several rare genetic conditions implicated in autism spectrum disorder (ASD). The onset of developmentally expected skills (e.g. walking, talking) serve as readily quantifiable aspects of the behavioral phenotype. This study's aims were: (a) describe the distribution of ages of attainment of gross motor and expressive language milestones in several rare genetic conditions, and (b) characterize the likelihood of delays in these conditions compared with idiopathic ASD. METHODS: Participants aged 3 years and older were drawn from two Simons Foundation Autism Research Initiative registries that employed consistent phenotyping protocols. Inclusion criteria were a confirmed genetic diagnosis of one of 16 genetic conditions (Simons Searchlight) or absence of known pathogenic genetic findings in individuals with ASD (SPARK). Parent-reported age of acquisition of three gross motor and two expressive language milestones was described and categorized as on-time or delayed, relative to normative expectations. RESULTS: Developmental milestone profiles of probands with genetic conditions were marked by extensive delays (including nonattainment), with highest severity in single gene conditions and more delays than idiopathic ASD in motor skills. Compared with idiopathic ASD, the median odds of delay among the genetic groups were higher by 8.3 times (IQR 5.8-16.3) for sitting, 12.4 times (IQR 5.3-19.5) for crawling, 26.8 times (IQR 7.7-41.1) for walking, 2.7 times (IQR 1.7-5.5) for single words, and 5.7 times (IQR 2.7-18.3) for combined words. CONCLUSIONS: Delays in developmental milestones, particularly in gross motor skills, are frequent and may be among the earliest indicators of differentially affected developmental processes in specific genetically defined conditions associated with ASD, as compared with those with clinical diagnoses of idiopathic ASD. The possibility of different developmental pathways leading to ASD-associated phenotypes should be considered when deciding how to employ specific genetic conditions as models for ASD. En ligne : http://dx.doi.org/10.1111/jcpp.13492 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1297-1307[article] Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries [Texte imprimé et/ou numérique] / J. WICKSTROM, Auteur ; C. FARMER, Auteur ; LeeAnne GREEN SNYDER, Auteur ; A. R. MITZ, Auteur ; S. J. SANDERS, Auteur ; Somer L. BISHOP, Auteur ; A. THURM, Auteur . - p.1297-1307.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1297-1307
Mots-clés : Autism Spectrum Disorder/genetics Autistic Disorder Humans Language Motor Skills Registries copy number variant developmental phenotype intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent large-scale initiatives have led to systematically collected phenotypic data for several rare genetic conditions implicated in autism spectrum disorder (ASD). The onset of developmentally expected skills (e.g. walking, talking) serve as readily quantifiable aspects of the behavioral phenotype. This study's aims were: (a) describe the distribution of ages of attainment of gross motor and expressive language milestones in several rare genetic conditions, and (b) characterize the likelihood of delays in these conditions compared with idiopathic ASD. METHODS: Participants aged 3 years and older were drawn from two Simons Foundation Autism Research Initiative registries that employed consistent phenotyping protocols. Inclusion criteria were a confirmed genetic diagnosis of one of 16 genetic conditions (Simons Searchlight) or absence of known pathogenic genetic findings in individuals with ASD (SPARK). Parent-reported age of acquisition of three gross motor and two expressive language milestones was described and categorized as on-time or delayed, relative to normative expectations. RESULTS: Developmental milestone profiles of probands with genetic conditions were marked by extensive delays (including nonattainment), with highest severity in single gene conditions and more delays than idiopathic ASD in motor skills. Compared with idiopathic ASD, the median odds of delay among the genetic groups were higher by 8.3 times (IQR 5.8-16.3) for sitting, 12.4 times (IQR 5.3-19.5) for crawling, 26.8 times (IQR 7.7-41.1) for walking, 2.7 times (IQR 1.7-5.5) for single words, and 5.7 times (IQR 2.7-18.3) for combined words. CONCLUSIONS: Delays in developmental milestones, particularly in gross motor skills, are frequent and may be among the earliest indicators of differentially affected developmental processes in specific genetically defined conditions associated with ASD, as compared with those with clinical diagnoses of idiopathic ASD. The possibility of different developmental pathways leading to ASD-associated phenotypes should be considered when deciding how to employ specific genetic conditions as models for ASD. En ligne : http://dx.doi.org/10.1111/jcpp.13492 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 Prevalence of Autism Spectrum Disorder in 7-9-Year-Old Children in Denmark, Finland, France and Iceland: A Population-Based Registries Approach Within the ASDEU Project / Malika DELOBEL-AYOUB in Journal of Autism and Developmental Disorders, 50-3 (March 2020)
[article]
Titre : Prevalence of Autism Spectrum Disorder in 7-9-Year-Old Children in Denmark, Finland, France and Iceland: A Population-Based Registries Approach Within the ASDEU Project Type de document : Texte imprimé et/ou numérique Auteurs : Malika DELOBEL-AYOUB, Auteur ; Evald SAEMUNDSEN, Auteur ; M. GISSLER, Auteur ; A. EGO, Auteur ; I. MOILANEN, Auteur ; H. EBELING, Auteur ; V. RAFNSSON, Auteur ; D. KLAPOUSZCZAK, Auteur ; E. THORSTEINSSON, Auteur ; K. M. ARNALDSDOTTIR, Auteur ; Bernadette ROGE, Auteur ; C. ARNAUD, Auteur ; Diana SCHENDEL, Auteur Article en page(s) : p.949-959 Langues : Anglais (eng) Mots-clés : Autism Epidemiology Health information systems Prevalence Registries Index. décimale : PER Périodiques Résumé : We estimated autism spectrum disorder (ASD) prevalence in 7-9 year-old children in 2015 using data from three nationwide health registry systems (Denmark, Finland, Iceland) and two French population-based regional registries. Prevalence ranged from 0.48% in South-East France to 3.13% in Iceland (South-West France: 0.73%, Finland: 0.77%, Denmark: 1.26%). Male/female ratios ranged from 3.3 in Finland to 5.4 in South-West France. Between 12% (Denmark) and 39% (South-West France) of cases were diagnosed with intellectual disability. The variations in population-based ASD prevalence across four European countries with universal health care practices likely reflect variation in detection, referral and diagnosis practices and autism awareness across these areas. Using established population-based data systems is an efficient approach to monitor ASD prevalence trends over time. En ligne : http://dx.doi.org/10.1007/s10803-019-04328-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=419
in Journal of Autism and Developmental Disorders > 50-3 (March 2020) . - p.949-959[article] Prevalence of Autism Spectrum Disorder in 7-9-Year-Old Children in Denmark, Finland, France and Iceland: A Population-Based Registries Approach Within the ASDEU Project [Texte imprimé et/ou numérique] / Malika DELOBEL-AYOUB, Auteur ; Evald SAEMUNDSEN, Auteur ; M. GISSLER, Auteur ; A. EGO, Auteur ; I. MOILANEN, Auteur ; H. EBELING, Auteur ; V. RAFNSSON, Auteur ; D. KLAPOUSZCZAK, Auteur ; E. THORSTEINSSON, Auteur ; K. M. ARNALDSDOTTIR, Auteur ; Bernadette ROGE, Auteur ; C. ARNAUD, Auteur ; Diana SCHENDEL, Auteur . - p.949-959.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 50-3 (March 2020) . - p.949-959
Mots-clés : Autism Epidemiology Health information systems Prevalence Registries Index. décimale : PER Périodiques Résumé : We estimated autism spectrum disorder (ASD) prevalence in 7-9 year-old children in 2015 using data from three nationwide health registry systems (Denmark, Finland, Iceland) and two French population-based regional registries. Prevalence ranged from 0.48% in South-East France to 3.13% in Iceland (South-West France: 0.73%, Finland: 0.77%, Denmark: 1.26%). Male/female ratios ranged from 3.3 in Finland to 5.4 in South-West France. Between 12% (Denmark) and 39% (South-West France) of cases were diagnosed with intellectual disability. The variations in population-based ASD prevalence across four European countries with universal health care practices likely reflect variation in detection, referral and diagnosis practices and autism awareness across these areas. Using established population-based data systems is an efficient approach to monitor ASD prevalence trends over time. En ligne : http://dx.doi.org/10.1007/s10803-019-04328-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=419 Autism severity aggregates with family psychiatric history in a community-based autism sample / D. SIPSOCK in Autism Research, 14-12 (December 2021)
[article]
Titre : Autism severity aggregates with family psychiatric history in a community-based autism sample Type de document : Texte imprimé et/ou numérique Auteurs : D. SIPSOCK, Auteur ; H. TOKADJIAN, Auteur ; G. RIGHI, Auteur ; E. M. MORROW, Auteur ; S. J. SHEINKOPF, Auteur Article en page(s) : p.2524-2532 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/complications/genetics Autistic Disorder/genetics Family Humans Longitudinal Studies Registries autism spectrum disorder disease severity family medical history population study registry Index. décimale : PER Périodiques Résumé : The purpose of this study was to examine family psychiatric history in individuals with autism spectrum disorder (ASD) and its association with clinical presentation. Participants were 798 individuals with a clinical diagnosis of ASD, confirmed by the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), enrolled in Rhode Island Consortium for Autism Research and Treatment, a statewide research registry. Prior research suggests a specific behavioral phenotype in individuals with ASD who have family members with psychiatric diagnoses, including higher IQ and less severe language impairment. However, studies have not specifically investigated autism severity. We hypothesized that increased psychiatric family history would be associated with increased autism severity symptoms. Results show a strong association of increased burden of first-degree family psychiatric history with higher autism symptom severity as measured by Social Responsiveness Scale, Second Edition (SRS-2), but not with ADOS-2 severity scores, IQ, or adaptive functioning. These findings support the importance of investigating the contribution of psychiatric family history toward clinical ASD presentation. LAY SUMMARY: This study explored how family psychiatric history is related to clinical presentation of Autism Spectrum Disorder (ASD). Higher amounts of first-degree family psychiatric history was associated with higher autism symptom severity as measured by the Social Responsiveness Scale, Second Edition (SRS-2). The contribution of psychiatric family history requires ongoing investigation. En ligne : http://dx.doi.org/10.1002/aur.2625 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450
in Autism Research > 14-12 (December 2021) . - p.2524-2532[article] Autism severity aggregates with family psychiatric history in a community-based autism sample [Texte imprimé et/ou numérique] / D. SIPSOCK, Auteur ; H. TOKADJIAN, Auteur ; G. RIGHI, Auteur ; E. M. MORROW, Auteur ; S. J. SHEINKOPF, Auteur . - p.2524-2532.
Langues : Anglais (eng)
in Autism Research > 14-12 (December 2021) . - p.2524-2532
Mots-clés : Autism Spectrum Disorder/complications/genetics Autistic Disorder/genetics Family Humans Longitudinal Studies Registries autism spectrum disorder disease severity family medical history population study registry Index. décimale : PER Périodiques Résumé : The purpose of this study was to examine family psychiatric history in individuals with autism spectrum disorder (ASD) and its association with clinical presentation. Participants were 798 individuals with a clinical diagnosis of ASD, confirmed by the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), enrolled in Rhode Island Consortium for Autism Research and Treatment, a statewide research registry. Prior research suggests a specific behavioral phenotype in individuals with ASD who have family members with psychiatric diagnoses, including higher IQ and less severe language impairment. However, studies have not specifically investigated autism severity. We hypothesized that increased psychiatric family history would be associated with increased autism severity symptoms. Results show a strong association of increased burden of first-degree family psychiatric history with higher autism symptom severity as measured by Social Responsiveness Scale, Second Edition (SRS-2), but not with ADOS-2 severity scores, IQ, or adaptive functioning. These findings support the importance of investigating the contribution of psychiatric family history toward clinical ASD presentation. LAY SUMMARY: This study explored how family psychiatric history is related to clinical presentation of Autism Spectrum Disorder (ASD). Higher amounts of first-degree family psychiatric history was associated with higher autism symptom severity as measured by the Social Responsiveness Scale, Second Edition (SRS-2). The contribution of psychiatric family history requires ongoing investigation. En ligne : http://dx.doi.org/10.1002/aur.2625 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden / Paul LICHTENSTEIN in Journal of Child Psychology and Psychiatry, 63-9 (September 2022)
[article]
Titre : Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden Type de document : Texte imprimé et/ou numérique Auteurs : Paul LICHTENSTEIN, Auteur ; Magnus TIDEMAN, Auteur ; Patrick F. SULLIVAN, Auteur ; Eva SERLACHIUS, Auteur ; Henrik LARSSON, Auteur ; Ralf KUJA-HALKOLA, Auteur ; Agnieszka BUTWICKA, Auteur Article en page(s) : p.1092-1102 Langues : Anglais (eng) Mots-clés : Child Cohort Studies Genetic Predisposition to Disease Humans Intellectual Disability/epidemiology/genetics Male Registries Risk Factors Sweden/epidemiology Intellectual disability family factors genetics siblings twins Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual disability (ID) aggregates in families, but factors affecting individual risk and heritability estimates remain unknown. METHODS: A population-based family cohort study of 4,165,785 individuals born 1973-2013 in Sweden, including 37,787 ID individuals and their relatives. The relative risks (RR) of ID with 95% confidence intervals (95% CI) were obtained from stratified Cox proportional-hazards models. Relatives of ID individuals were compared to relatives of unaffected individuals. Structural equation modeling was used to estimate heritability. RESULTS: Relatives of ID individuals were at increased risk of ID compared to individuals with unaffected relatives. The RR of ID among relatives increased proportionally to the degree of genetic relatedness with ID probands; 256.70(95% CI 161.30-408.53) for monozygotic twins, 16.47(13.32-20.38) for parents, 14.88(12.19-18.16) for children, 7.04(4.67-10.61) for dizygotic twins, 8.38(7.97-8.83) for full siblings, 4.56(4.02-5.16) for maternal, 2.90(2.49-3.37) for paternal half-siblings, 3.03(2.61-3.50) for nephews/nieces, 2.84(2.45-3.29) for uncles/aunts, and 2.04(1.91-2.20) for cousins. Lower RRs were observed for siblings of probands with chromosomal abnormalities (RR 5.53, 4.74-6.46) and more severe ID (mild RR 9.15, 8.55-9.78, moderate RR 8.13, 7.28-9.08, severe RR 6.80, 5.74-8.07, and profound RR 5.88, 4.52-7.65). Male sex of relative and maternal line of relationship with proband was related to higher risk (RR 1.33, 1.25-1.41 for brothers vs. sisters and RR 1.49, 1.34-1.68 for maternal vs. paternal half-siblings). ID was substantially heritable with 0.95(95% CI 0.93-0.98) of the variance in liability attributed to genetic influences. CONCLUSIONS: The risk estimates will benefit researchers, clinicians, families in understanding the risk of ID in the family and the whole population. The higher risk of ID related to male sex and maternal linage will be of value for planning and interpreting etiological studies in ID. En ligne : http://dx.doi.org/10.1111/jcpp.13560 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486
in Journal of Child Psychology and Psychiatry > 63-9 (September 2022) . - p.1092-1102[article] Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden [Texte imprimé et/ou numérique] / Paul LICHTENSTEIN, Auteur ; Magnus TIDEMAN, Auteur ; Patrick F. SULLIVAN, Auteur ; Eva SERLACHIUS, Auteur ; Henrik LARSSON, Auteur ; Ralf KUJA-HALKOLA, Auteur ; Agnieszka BUTWICKA, Auteur . - p.1092-1102.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 63-9 (September 2022) . - p.1092-1102
Mots-clés : Child Cohort Studies Genetic Predisposition to Disease Humans Intellectual Disability/epidemiology/genetics Male Registries Risk Factors Sweden/epidemiology Intellectual disability family factors genetics siblings twins Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual disability (ID) aggregates in families, but factors affecting individual risk and heritability estimates remain unknown. METHODS: A population-based family cohort study of 4,165,785 individuals born 1973-2013 in Sweden, including 37,787 ID individuals and their relatives. The relative risks (RR) of ID with 95% confidence intervals (95% CI) were obtained from stratified Cox proportional-hazards models. Relatives of ID individuals were compared to relatives of unaffected individuals. Structural equation modeling was used to estimate heritability. RESULTS: Relatives of ID individuals were at increased risk of ID compared to individuals with unaffected relatives. The RR of ID among relatives increased proportionally to the degree of genetic relatedness with ID probands; 256.70(95% CI 161.30-408.53) for monozygotic twins, 16.47(13.32-20.38) for parents, 14.88(12.19-18.16) for children, 7.04(4.67-10.61) for dizygotic twins, 8.38(7.97-8.83) for full siblings, 4.56(4.02-5.16) for maternal, 2.90(2.49-3.37) for paternal half-siblings, 3.03(2.61-3.50) for nephews/nieces, 2.84(2.45-3.29) for uncles/aunts, and 2.04(1.91-2.20) for cousins. Lower RRs were observed for siblings of probands with chromosomal abnormalities (RR 5.53, 4.74-6.46) and more severe ID (mild RR 9.15, 8.55-9.78, moderate RR 8.13, 7.28-9.08, severe RR 6.80, 5.74-8.07, and profound RR 5.88, 4.52-7.65). Male sex of relative and maternal line of relationship with proband was related to higher risk (RR 1.33, 1.25-1.41 for brothers vs. sisters and RR 1.49, 1.34-1.68 for maternal vs. paternal half-siblings). ID was substantially heritable with 0.95(95% CI 0.93-0.98) of the variance in liability attributed to genetic influences. CONCLUSIONS: The risk estimates will benefit researchers, clinicians, families in understanding the risk of ID in the family and the whole population. The higher risk of ID related to male sex and maternal linage will be of value for planning and interpreting etiological studies in ID. En ligne : http://dx.doi.org/10.1111/jcpp.13560 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 Shared familial risk factors between autism spectrum disorder and obesity - a register-based familial coaggregation cohort study / Richard AHLBERG in Journal of Child Psychology and Psychiatry, 63-8 (August 2022)
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