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Heritability of quantitative autism spectrum traits in adults: A family-based study / S. C. TAYLOR in Autism Research, 14-8 (August 2021)
[article]
Titre : Heritability of quantitative autism spectrum traits in adults: A family-based study Type de document : Texte imprimé et/ou numérique Auteurs : S. C. TAYLOR, Auteur ; S. STEEMAN, Auteur ; B. N. GEHRINGER, Auteur ; H. C. DOW, Auteur ; A. LANGER, Auteur ; E. RAWOT, Auteur ; L. PEREZ, Auteur ; M. GOODMAN, Auteur ; Z. SMERNOFF, Auteur ; M. GREWAL, Auteur ; O. ESHRAGHI, Auteur ; Ashley A. PALLATHRA, Auteur ; C. OKSAS, Auteur ; M. MENDEZ, Auteur ; Ruben C. GUR, Auteur ; D. J. RADER, Auteur ; M. BUCAN, Auteur ; Laura ALMASY, Auteur ; Edward S. BRODKIN, Auteur Article en page(s) : p.1543-1553 Langues : Anglais (eng) Mots-clés : Adult Autism Spectrum Disorder/genetics Autistic Disorder Executive Function Humans Phenotype Surveys and Questionnaires adult autism spectrum disorder family studies heritability phenotype quantitative trait Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) comprises a multi-dimensional set of quantitative behavioral traits expressed along a continuum in autistic and neurotypical individuals. ASD diagnosis-a dichotomous trait-is known to be highly heritable and has been used as the phenotype for most ASD genetic studies. But less is known about the heritability of autism spectrum quantitative traits, especially in adults, an important prerequisite for gene discovery. We sought to measure the heritability of many autism-relevant quantitative traits in adults high in autism spectrum traits and their extended family members. Among adults high in autism spectrum traits (n = 158) and their extended family members (n = 245), we calculated univariate and bivariate heritability estimates for 19 autism spectrum traits across several behavioral domains. We found nearly all tested autism spectrum quantitative traits to be significantly heritable (h(2) = 0.24-0.79), including overall ASD traits, restricted repetitive behaviors, broader autism phenotype traits, social anxiety, and executive functioning. The degree of shared heritability varied based on method and specificity of the assessment measure. We found high shared heritability for the self-report measures and for most of the informant-report measures, with little shared heritability among performance-based cognition tasks. These findings suggest that many autism spectrum quantitative traits would be good, feasible candidates for future genetics studies, allowing for an increase in the power of autism gene discovery. Our findings suggest that the degree of shared heritability between traits depends on the assessment method (self-report vs. informant-report vs. performance-based tasks), as well as trait-specificity. LAY SUMMARY: We found that the scores from questionnaires and tasks measuring different types of behaviors and abilities related to autism spectrum disorder (ASD) were heritable (strongly influenced by gene variants passed down through a family) among autistic adults and their family members. These findings mean that these scores can be used in future studies interested in identifying specific genes and gene variants that are associated with different behaviors and abilities related with ASD. En ligne : http://dx.doi.org/10.1002/aur.2571 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449
in Autism Research > 14-8 (August 2021) . - p.1543-1553[article] Heritability of quantitative autism spectrum traits in adults: A family-based study [Texte imprimé et/ou numérique] / S. C. TAYLOR, Auteur ; S. STEEMAN, Auteur ; B. N. GEHRINGER, Auteur ; H. C. DOW, Auteur ; A. LANGER, Auteur ; E. RAWOT, Auteur ; L. PEREZ, Auteur ; M. GOODMAN, Auteur ; Z. SMERNOFF, Auteur ; M. GREWAL, Auteur ; O. ESHRAGHI, Auteur ; Ashley A. PALLATHRA, Auteur ; C. OKSAS, Auteur ; M. MENDEZ, Auteur ; Ruben C. GUR, Auteur ; D. J. RADER, Auteur ; M. BUCAN, Auteur ; Laura ALMASY, Auteur ; Edward S. BRODKIN, Auteur . - p.1543-1553.
Langues : Anglais (eng)
in Autism Research > 14-8 (August 2021) . - p.1543-1553
Mots-clés : Adult Autism Spectrum Disorder/genetics Autistic Disorder Executive Function Humans Phenotype Surveys and Questionnaires adult autism spectrum disorder family studies heritability phenotype quantitative trait Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) comprises a multi-dimensional set of quantitative behavioral traits expressed along a continuum in autistic and neurotypical individuals. ASD diagnosis-a dichotomous trait-is known to be highly heritable and has been used as the phenotype for most ASD genetic studies. But less is known about the heritability of autism spectrum quantitative traits, especially in adults, an important prerequisite for gene discovery. We sought to measure the heritability of many autism-relevant quantitative traits in adults high in autism spectrum traits and their extended family members. Among adults high in autism spectrum traits (n = 158) and their extended family members (n = 245), we calculated univariate and bivariate heritability estimates for 19 autism spectrum traits across several behavioral domains. We found nearly all tested autism spectrum quantitative traits to be significantly heritable (h(2) = 0.24-0.79), including overall ASD traits, restricted repetitive behaviors, broader autism phenotype traits, social anxiety, and executive functioning. The degree of shared heritability varied based on method and specificity of the assessment measure. We found high shared heritability for the self-report measures and for most of the informant-report measures, with little shared heritability among performance-based cognition tasks. These findings suggest that many autism spectrum quantitative traits would be good, feasible candidates for future genetics studies, allowing for an increase in the power of autism gene discovery. Our findings suggest that the degree of shared heritability between traits depends on the assessment method (self-report vs. informant-report vs. performance-based tasks), as well as trait-specificity. LAY SUMMARY: We found that the scores from questionnaires and tasks measuring different types of behaviors and abilities related to autism spectrum disorder (ASD) were heritable (strongly influenced by gene variants passed down through a family) among autistic adults and their family members. These findings mean that these scores can be used in future studies interested in identifying specific genes and gene variants that are associated with different behaviors and abilities related with ASD. En ligne : http://dx.doi.org/10.1002/aur.2571 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 Attention and motor deficits index non-specific background liabilities that predict autism recurrence in siblings / S. E. MOUS in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Attention and motor deficits index non-specific background liabilities that predict autism recurrence in siblings Type de document : Texte imprimé et/ou numérique Auteurs : S. E. MOUS, Auteur ; A. JIANG, Auteur ; Arpana AGRAWAL, Auteur ; John N. CONSTANTINO, Auteur Article en page(s) : p.32 Langues : Anglais (eng) Mots-clés : Adhd Autism Family studies Motor coordination Sibling recurrence Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent research has demonstrated that subclinical autistic traits of parents amplify the effects of deleterious mutations in the causation of autism spectrum disorder (ASD) in their offspring. Here, we examined the extent to which two neurodevelopmental traits that are non-specific to ASD-inattention/hyperactivity and motor coordination-might contribute to ASD recurrence in siblings of ASD probands. METHODS: Data from a quantitative trait study of 114 ASD probands and their brothers, 26% of whom also had ASD, were analyzed. Autistic trait severity was ascertained using the Social Responsiveness Scale-2, attention/hyperactivity problems using the Achenbach System of Empirically Based Assessment, and motor coordination (in a subset of participants) using the Developmental Coordination Disorder Questionnaire. RESULTS: Among siblings (affected and unaffected), both categorical recurrence of ASD (Nagelkerke R (2) = 0.53) and quantitative ASD trait burden (R (2) = 0.55) were predicted by sibling ADHD and motor coordination impairment scores, even though these traits, on average, were not elevated among the unaffected siblings. CONCLUSIONS: These findings in a clinical family cohort confirm observations from general population studies that inattention/hyperactivity and motor impairment-axes of behavioral development that are non-specific to ASD, and often appreciable before ASD is typically diagnosed-jointly account for over 50% of the variation in autistic impairment of siblings, whether ascertained quantitatively or categorically. This finding within a sibling design suggests that background ASD susceptibilities that are inherited but non-specific ("BASINS") may contribute to additive genetic liability in the same manner that ASD-specific susceptibilities (such as parental subclinical ASD traits and deleterious mutations) engender ASD risk. En ligne : http://dx.doi.org/10.1186/s11689-017-9212-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.32[article] Attention and motor deficits index non-specific background liabilities that predict autism recurrence in siblings [Texte imprimé et/ou numérique] / S. E. MOUS, Auteur ; A. JIANG, Auteur ; Arpana AGRAWAL, Auteur ; John N. CONSTANTINO, Auteur . - p.32.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.32
Mots-clés : Adhd Autism Family studies Motor coordination Sibling recurrence Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent research has demonstrated that subclinical autistic traits of parents amplify the effects of deleterious mutations in the causation of autism spectrum disorder (ASD) in their offspring. Here, we examined the extent to which two neurodevelopmental traits that are non-specific to ASD-inattention/hyperactivity and motor coordination-might contribute to ASD recurrence in siblings of ASD probands. METHODS: Data from a quantitative trait study of 114 ASD probands and their brothers, 26% of whom also had ASD, were analyzed. Autistic trait severity was ascertained using the Social Responsiveness Scale-2, attention/hyperactivity problems using the Achenbach System of Empirically Based Assessment, and motor coordination (in a subset of participants) using the Developmental Coordination Disorder Questionnaire. RESULTS: Among siblings (affected and unaffected), both categorical recurrence of ASD (Nagelkerke R (2) = 0.53) and quantitative ASD trait burden (R (2) = 0.55) were predicted by sibling ADHD and motor coordination impairment scores, even though these traits, on average, were not elevated among the unaffected siblings. CONCLUSIONS: These findings in a clinical family cohort confirm observations from general population studies that inattention/hyperactivity and motor impairment-axes of behavioral development that are non-specific to ASD, and often appreciable before ASD is typically diagnosed-jointly account for over 50% of the variation in autistic impairment of siblings, whether ascertained quantitatively or categorically. This finding within a sibling design suggests that background ASD susceptibilities that are inherited but non-specific ("BASINS") may contribute to additive genetic liability in the same manner that ASD-specific susceptibilities (such as parental subclinical ASD traits and deleterious mutations) engender ASD risk. En ligne : http://dx.doi.org/10.1186/s11689-017-9212-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 The roles of familial transmission and smoking during pregnancy on executive function skills: A sibling-comparison study / Valerie S. KNOPIK in Development and Psychopathology, 34-5 (December 2022)
[article]
Titre : The roles of familial transmission and smoking during pregnancy on executive function skills: A sibling-comparison study Type de document : Texte imprimé et/ou numérique Auteurs : Valerie S. KNOPIK, Auteur ; Lauren MICALIZZI, Auteur ; Kristine MARCEAU, Auteur ; Amy M. LOVISKA, Auteur ; Li YU, Auteur ; Alexandra BIEN, Auteur ; Emily ROLAN, Auteur ; Allison S. EVANS, Auteur ; Rohan H. C. PALMER, Auteur ; Andrew C. HEATH, Auteur Article en page(s) : p.1803-1815 Langues : Anglais (eng) Mots-clés : executive function family studies smoking during pregnancy Index. décimale : PER Périodiques Résumé : This research examines maternal smoking during pregnancy and risk for poorer executive function in siblings discordant for exposure. Data (N = 173 families) were drawn from the Missouri Mothers and Their Children study, a sample, identified using birth records (years 1998 “2005), in which mothers changed smoking behavior between two pregnancies (Child 1 [older sibling]: Mage = 12.99; Child 2 [younger sibling]: Mage = 10.19). A sibling comparison approach was used, providing a robust test for the association between maternal smoking during pregnancy and different aspects of executive function in early-mid adolescence. Results suggested within-family (i.e., potentially causal) associations between maternal smoking during pregnancy and one working memory task (visual working memory) and one response inhibition task (color-word interference), with increased exposure associated with decreased performance. Maternal smoking during pregnancy was not associated with stop-signal reaction time, cognitive flexibility/set-shifting, or auditory working memory. Initial within-family associations between maternal smoking during pregnancy and visual working memory as well as color-word interference were fully attenuated in a model including child and familial covariates. These findings indicate that exposure to maternal smoking during pregnancy may be associated with poorer performance on some, but not all skills assessed; however, familial transmission of risk for low executive function appears more important. En ligne : http://dx.doi.org/10.1017/S095457942200075X Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=492
in Development and Psychopathology > 34-5 (December 2022) . - p.1803-1815[article] The roles of familial transmission and smoking during pregnancy on executive function skills: A sibling-comparison study [Texte imprimé et/ou numérique] / Valerie S. KNOPIK, Auteur ; Lauren MICALIZZI, Auteur ; Kristine MARCEAU, Auteur ; Amy M. LOVISKA, Auteur ; Li YU, Auteur ; Alexandra BIEN, Auteur ; Emily ROLAN, Auteur ; Allison S. EVANS, Auteur ; Rohan H. C. PALMER, Auteur ; Andrew C. HEATH, Auteur . - p.1803-1815.
Langues : Anglais (eng)
in Development and Psychopathology > 34-5 (December 2022) . - p.1803-1815
Mots-clés : executive function family studies smoking during pregnancy Index. décimale : PER Périodiques Résumé : This research examines maternal smoking during pregnancy and risk for poorer executive function in siblings discordant for exposure. Data (N = 173 families) were drawn from the Missouri Mothers and Their Children study, a sample, identified using birth records (years 1998 “2005), in which mothers changed smoking behavior between two pregnancies (Child 1 [older sibling]: Mage = 12.99; Child 2 [younger sibling]: Mage = 10.19). A sibling comparison approach was used, providing a robust test for the association between maternal smoking during pregnancy and different aspects of executive function in early-mid adolescence. Results suggested within-family (i.e., potentially causal) associations between maternal smoking during pregnancy and one working memory task (visual working memory) and one response inhibition task (color-word interference), with increased exposure associated with decreased performance. Maternal smoking during pregnancy was not associated with stop-signal reaction time, cognitive flexibility/set-shifting, or auditory working memory. Initial within-family associations between maternal smoking during pregnancy and visual working memory as well as color-word interference were fully attenuated in a model including child and familial covariates. These findings indicate that exposure to maternal smoking during pregnancy may be associated with poorer performance on some, but not all skills assessed; however, familial transmission of risk for low executive function appears more important. En ligne : http://dx.doi.org/10.1017/S095457942200075X Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=492 Parenting stress in caregivers of young children with ASD concerns prior to a formal diagnosis / Trent D. DESCHAMPS in Autism Research, 13-1 (January 2020)
[article]
Titre : Parenting stress in caregivers of young children with ASD concerns prior to a formal diagnosis Type de document : Texte imprimé et/ou numérique Auteurs : Trent D. DESCHAMPS, Auteur ; Lisa V. IBANEZ, Auteur ; Sarah R. EDMUNDS, Auteur ; Catherine C. DICK, Auteur ; Wendy L. STONE, Auteur Article en page(s) : p.82-92 Langues : Anglais (eng) Mots-clés : autism spectrum disorder diagnosis family studies parenting stress Index. décimale : PER Périodiques Résumé : Robust findings demonstrate that parents of children with autism spectrum disorder (ASD) experience high levels of parenting stress that are associated with negative outcomes for families. Although the majority of research on parenting stress has focused on parents of children with an existing diagnosis, parents of young children with concerns about ASD-related behaviors also face many unique challenges before the time of diagnosis. However, no study to date has examined patterns of parenting stress among parents of children with ASD concerns prior to a formal ASD diagnosis. Therefore, the current study investigated longitudinal trajectories of parenting stress among parents of young children with ASD concerns compared to parents of children with non-ASD developmental concerns (e.g., language delay), and parents of children with no developmental concerns. Known predictors of parenting stress were also examined. Results from multilevel model analyses revealed that parents of children with ASD concerns experienced consistently higher levels of parenting stress across early child development compared to parents of children with non-ASD developmental concerns and those with no concerns. Additionally, parenting efficacy, psychological functioning, social satisfaction, and child social communication behaviors predicted levels of parenting stress for all parents. Autism Res 2020, 13: 82-92. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study examined parenting stress across time among parents of young children with ASD concerns before receiving a diagnosis. Parents of children with ASD concerns reported consistently higher levels of parenting stress compared to parents of children with other developmental concerns and parents of children with no concerns. Also, ASD concerns predicted parenting stress in addition to other parent and child predictors of parenting stress. These findings highlight the need to better support families before an ASD diagnosis. En ligne : http://dx.doi.org/10.1002/aur.2213 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=415
in Autism Research > 13-1 (January 2020) . - p.82-92[article] Parenting stress in caregivers of young children with ASD concerns prior to a formal diagnosis [Texte imprimé et/ou numérique] / Trent D. DESCHAMPS, Auteur ; Lisa V. IBANEZ, Auteur ; Sarah R. EDMUNDS, Auteur ; Catherine C. DICK, Auteur ; Wendy L. STONE, Auteur . - p.82-92.
Langues : Anglais (eng)
in Autism Research > 13-1 (January 2020) . - p.82-92
Mots-clés : autism spectrum disorder diagnosis family studies parenting stress Index. décimale : PER Périodiques Résumé : Robust findings demonstrate that parents of children with autism spectrum disorder (ASD) experience high levels of parenting stress that are associated with negative outcomes for families. Although the majority of research on parenting stress has focused on parents of children with an existing diagnosis, parents of young children with concerns about ASD-related behaviors also face many unique challenges before the time of diagnosis. However, no study to date has examined patterns of parenting stress among parents of children with ASD concerns prior to a formal ASD diagnosis. Therefore, the current study investigated longitudinal trajectories of parenting stress among parents of young children with ASD concerns compared to parents of children with non-ASD developmental concerns (e.g., language delay), and parents of children with no developmental concerns. Known predictors of parenting stress were also examined. Results from multilevel model analyses revealed that parents of children with ASD concerns experienced consistently higher levels of parenting stress across early child development compared to parents of children with non-ASD developmental concerns and those with no concerns. Additionally, parenting efficacy, psychological functioning, social satisfaction, and child social communication behaviors predicted levels of parenting stress for all parents. Autism Res 2020, 13: 82-92. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study examined parenting stress across time among parents of young children with ASD concerns before receiving a diagnosis. Parents of children with ASD concerns reported consistently higher levels of parenting stress compared to parents of children with other developmental concerns and parents of children with no concerns. Also, ASD concerns predicted parenting stress in addition to other parent and child predictors of parenting stress. These findings highlight the need to better support families before an ASD diagnosis. En ligne : http://dx.doi.org/10.1002/aur.2213 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=415