Contrasting Views of Autism Spectrum Traits in Adults, Especially in Self-Reports vs. Informant-Reports for Women High in Autism Spectrum Traits / Sara C. TAYLOR in Journal of Autism and Developmental Disorders, 54-3 (March 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-3 (March 2024) . - p.1088-1100 Titre : Contrasting Views of Autism Spectrum Traits in Adults, Especially in Self-Reports vs. Informant-Reports for Women High in Autism Spectrum Traits Type de document : Texte imprimé et/ou numérique Auteurs : Sara C. TAYLOR, Auteur ; Brielle N. GEHRINGER, Auteur ; Holly C. DOW, Auteur ; Allison LANGER, Auteur ; Eric RAWOT, Auteur ; Zoe SMERNOFF, Auteur ; Samantha STEEMAN, Auteur ; Laura ALMASY, Auteur ; Daniel J. RADER, Auteur ; Maja BU?AN, Auteur ; Edward S. BRODKIN, Auteur Article en page(s) : p.1088-1100 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : There is uncertainty among researchers and clinicians about how to best measure autism spectrum dimensional traits in adults. In a sample of adults with high levels of autism spectrum traits and without intellectual disability (probands, n = 103) and their family members (n = 96), we sought to compare self vs. informant reports of autism spectrum-related traits and possible effects of sex on discrepancies. Using correlational analysis, we found poor agreement between self- and informant-report measures for probands, yet moderate agreement for family members. We found reporting discrepancy was greatest for female probands, often self-reporting more autism-related behaviors. Our findings suggest that autism spectrum traits are often underrecognized by informants, making self-report data important to collect in clinical and research settings. En ligne : https://doi.org/10.1007/s10803-022-05822-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=524 [article] Contrasting Views of Autism Spectrum Traits in Adults, Especially in Self-Reports vs. Informant-Reports for Women High in Autism Spectrum Traits [Texte imprimé et/ou numérique] / Sara C. TAYLOR, Auteur ; Brielle N. GEHRINGER, Auteur ; Holly C. DOW, Auteur ; Allison LANGER, Auteur ; Eric RAWOT, Auteur ; Zoe SMERNOFF, Auteur ; Samantha STEEMAN, Auteur ; Laura ALMASY, Auteur ; Daniel J. RADER, Auteur ; Maja BU?AN, Auteur ; Edward S. BRODKIN, Auteur . - p.1088-1100. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-3 (March 2024) . - p.1088-1100 Index. décimale : PER Périodiques Résumé : There is uncertainty among researchers and clinicians about how to best measure autism spectrum dimensional traits in adults. In a sample of adults with high levels of autism spectrum traits and without intellectual disability (probands, n = 103) and their family members (n = 96), we sought to compare self vs. informant reports of autism spectrum-related traits and possible effects of sex on discrepancies. Using correlational analysis, we found poor agreement between self- and informant-report measures for probands, yet moderate agreement for family members. We found reporting discrepancy was greatest for female probands, often self-reporting more autism-related behaviors. Our findings suggest that autism spectrum traits are often underrecognized by informants, making self-report data important to collect in clinical and research settings. En ligne : https://doi.org/10.1007/s10803-022-05822-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=524

Heritability of quantitative autism spectrum traits in adults: A family-based study / S. C. TAYLOR in Autism Research, 14-8 (August 2021)  

Public ISBD [article]  inAutism Research > 14-8 (August 2021) . - p.1543-1553 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 ; Brielle 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 [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 ; Brielle 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

Phenotypic and ancestry-related assortative mating in autism / Jing ZHANG in Molecular Autism, 15 (2024)  

Public ISBD [article]  inMolecular Autism > 15 (2024) . - 27p. Titre : Phenotypic and ancestry-related assortative mating in autism Type de document : Texte imprimé et/ou numérique Auteurs : Jing ZHANG, Auteur ; J. Dylan WEISSENKAMPEN, Auteur ; Rachel L. KEMBER, Auteur ; iPSYCH CONSORTIUM, Auteur ; Jakob GROVE, Auteur ; Anders D. BØRGLUM, Auteur ; Elise B. ROBINSON, Auteur ; Edward S. BRODKIN, Auteur ; Laura ALMASY, Auteur ; Maja BUCAN, Auteur ; Ronnie SEBRO, Auteur Article en page(s) : 27p. Langues : Anglais (eng) Mots-clés : Humans  Autistic Disorder/genetics  Phenotype  Male  Female  Linkage Disequilibrium  Multifactorial Inheritance  Child  Genetic Predisposition to Disease  Polymorphism, Single Nucleotide  Adult  Intellectual Disability/genetics  Assortative mating  Autism  Genetic ancestry  Intellectual disability  Linkage disequilibrium  Polygenic scores Index. décimale : PER Périodiques Résumé : BACKGROUND: Positive assortative mating (AM) in several neuropsychiatric traits, including autism, has been noted. However, it is unknown whether the pattern of AM is different in phenotypically defined autism subgroups [e.g., autism with and without intellectually disability (ID)]. It is also unclear what proportion of the phenotypic AM can be explained by the genetic similarity between parents of children with an autism diagnosis, and the consequences of AM on the genetic structure of the population. METHODS: To address these questions, we analyzed two family-based autism collections: the Simons Foundation Powering Autism Research for Knowledge (SPARK) (1575 families) and the Simons Simplex Collection (SSC) (2283 families). RESULTS: We found a similar degree of phenotypic and ancestry-related AM in parents of children with an autism diagnosis regardless of the presence of ID. We did not find evidence of AM for autism based on autism polygenic scores (PGS) (at a threshold of |r|>?0.1). The adjustment of ancestry-related AM or autism PGS accounted for only 0.3-4% of the fractional change in the estimate of the phenotypic AM. The ancestry-related AM introduced higher long-range linkage disequilibrium (LD) between single nucleotide polymorphisms (SNPs) on different chromosomes that are highly ancestry-informative compared to SNPs that are less ancestry-informative (D(2) on the order of 1?*?10(-5)). LIMITATIONS: We only analyzed participants of European ancestry, limiting the generalizability of our results to individuals of non-European ancestry. SPARK and SSC were both multicenter studies. Therefore, there could be ancestry-related AM in SPARK and SSC due to geographic stratification. The study participants from each site were unknown, so we were unable to evaluate for geographic stratification. CONCLUSIONS: This study showed similar patterns of AM in autism with and without ID, and demonstrated that the common genetic influences of autism are likely relevant to both autism groups. The adjustment of ancestry-related AM and autism PGS accounted for En ligne : https://dx.doi.org/10.1186/s13229-024-00605-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538 [article] Phenotypic and ancestry-related assortative mating in autism [Texte imprimé et/ou numérique] / Jing ZHANG, Auteur ; J. Dylan WEISSENKAMPEN, Auteur ; Rachel L. KEMBER, Auteur ; iPSYCH CONSORTIUM, Auteur ; Jakob GROVE, Auteur ; Anders D. BØRGLUM, Auteur ; Elise B. ROBINSON, Auteur ; Edward S. BRODKIN, Auteur ; Laura ALMASY, Auteur ; Maja BUCAN, Auteur ; Ronnie SEBRO, Auteur . - 27p. Langues : Anglais (eng) in Molecular Autism > 15 (2024) . - 27p. Mots-clés : Humans  Autistic Disorder/genetics  Phenotype  Male  Female  Linkage Disequilibrium  Multifactorial Inheritance  Child  Genetic Predisposition to Disease  Polymorphism, Single Nucleotide  Adult  Intellectual Disability/genetics  Assortative mating  Autism  Genetic ancestry  Intellectual disability  Linkage disequilibrium  Polygenic scores Index. décimale : PER Périodiques Résumé : BACKGROUND: Positive assortative mating (AM) in several neuropsychiatric traits, including autism, has been noted. However, it is unknown whether the pattern of AM is different in phenotypically defined autism subgroups [e.g., autism with and without intellectually disability (ID)]. It is also unclear what proportion of the phenotypic AM can be explained by the genetic similarity between parents of children with an autism diagnosis, and the consequences of AM on the genetic structure of the population. METHODS: To address these questions, we analyzed two family-based autism collections: the Simons Foundation Powering Autism Research for Knowledge (SPARK) (1575 families) and the Simons Simplex Collection (SSC) (2283 families). RESULTS: We found a similar degree of phenotypic and ancestry-related AM in parents of children with an autism diagnosis regardless of the presence of ID. We did not find evidence of AM for autism based on autism polygenic scores (PGS) (at a threshold of |r|>?0.1). The adjustment of ancestry-related AM or autism PGS accounted for only 0.3-4% of the fractional change in the estimate of the phenotypic AM. The ancestry-related AM introduced higher long-range linkage disequilibrium (LD) between single nucleotide polymorphisms (SNPs) on different chromosomes that are highly ancestry-informative compared to SNPs that are less ancestry-informative (D(2) on the order of 1?*?10(-5)). LIMITATIONS: We only analyzed participants of European ancestry, limiting the generalizability of our results to individuals of non-European ancestry. SPARK and SSC were both multicenter studies. Therefore, there could be ancestry-related AM in SPARK and SSC due to geographic stratification. The study participants from each site were unknown, so we were unable to evaluate for geographic stratification. CONCLUSIONS: This study showed similar patterns of AM in autism with and without ID, and demonstrated that the common genetic influences of autism are likely relevant to both autism groups. The adjustment of ancestry-related AM and autism PGS accounted for En ligne : https://dx.doi.org/10.1186/s13229-024-00605-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

The relationship between autism spectrum and sleep-wake traits / Stacey D. ELKHATIB SMIDT in Autism Research, 15-4 (April 2022)  

Public ISBD [article]  inAutism Research > 15-4 (April 2022) . - p.641-652 Titre : The relationship between autism spectrum and sleep-wake traits Type de document : Texte imprimé et/ou numérique Auteurs : Stacey D. ELKHATIB SMIDT, Auteur ; Arpita GHORAI, Auteur ; Sara C TAYLOR, Auteur ; Brielle N. GEHRINGER, Auteur ; Holly C. DOW, Auteur ; Allison LANGER, Auteur ; Eric RAWOT, Auteur ; Jing ZHANG, Auteur ; Jonathan A. MITCHELL, Auteur ; Daniel J. RADER, Auteur ; Laura ALMASY, Auteur ; Edward S. BRODKIN, Auteur ; Maja BU?AN, Auteur Article en page(s) : p.641-652 Langues : Anglais (eng) Mots-clés : Adult  Autism Spectrum Disorder/complications  Autistic Disorder/complications  Child  Humans  Quality of Life  Sleep  Sleep Wake Disorders/complications  adults  autism spectrum disorder  children  executive function Index. décimale : PER Périodiques Résumé : Autistic children and adults often have sleep disturbances, which may affect their and their family's quality of life. Yet, the relationship between sleep-wake patterns and autism spectrum traits is understudied. Identifying such relationships could lead to future research elucidating common mechanistic underpinnings. Thus, we aimed to determine whether sleep-wake patterns, specifically related to sleep, physical activity, and the daily sleep-wake rhythm (i.e., circadian rhythm), are associated with autism spectrum-related traits. Accelerometer-derived sleep-wake parameters were estimated in individuals with autistic spectrum traits and their family members (N = 267). We evaluated autism spectrum traits using the Social Responsiveness Scale (SRS) to assess the presence and severity of social impairment and the Behavior Rating Inventory of Executive Function (BRIEF) to assess executive function. The linear multivariate regression analysis (using SOLAR-Eclipse) showed that in adults, increased core autism spectrum traits and executive dysfunction were associated with disruption of several sleep-wake parameters, particularly related to the daily sleep-wake rhythm, and that executive dysfunction was associated with disrupted sleep quality and level of physical activity. We highlight the interplay between daytime function and disrupted sleep-wake patterns, specifically related to the daily sleep-wake rhythm, that could guide future research into common mechanisms. LAY SUMMARY: Autistic children and adults often report sleep disturbances. To dissect the relationship between a range of autism spectrum traits and sleep-wake patterns, we assessed social interaction and executive function in participants who also wore actimetry watches on their wrists to assess their sleep-wake patterns. We found that increased impairments in social and executive function occurred with increased sleep-wake disturbances, particularly those related to the circadian rhythm, suggesting that these perturbations/disruptions in the sleep-wake cycle could be connected to autism spectrum traits. En ligne : https://dx.doi.org/10.1002/aur.2660 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 [article] The relationship between autism spectrum and sleep-wake traits [Texte imprimé et/ou numérique] / Stacey D. ELKHATIB SMIDT, Auteur ; Arpita GHORAI, Auteur ; Sara C TAYLOR, Auteur ; Brielle N. GEHRINGER, Auteur ; Holly C. DOW, Auteur ; Allison LANGER, Auteur ; Eric RAWOT, Auteur ; Jing ZHANG, Auteur ; Jonathan A. MITCHELL, Auteur ; Daniel J. RADER, Auteur ; Laura ALMASY, Auteur ; Edward S. BRODKIN, Auteur ; Maja BU?AN, Auteur . - p.641-652. Langues : Anglais (eng) in Autism Research > 15-4 (April 2022) . - p.641-652 Mots-clés : Adult  Autism Spectrum Disorder/complications  Autistic Disorder/complications  Child  Humans  Quality of Life  Sleep  Sleep Wake Disorders/complications  adults  autism spectrum disorder  children  executive function Index. décimale : PER Périodiques Résumé : Autistic children and adults often have sleep disturbances, which may affect their and their family's quality of life. Yet, the relationship between sleep-wake patterns and autism spectrum traits is understudied. Identifying such relationships could lead to future research elucidating common mechanistic underpinnings. Thus, we aimed to determine whether sleep-wake patterns, specifically related to sleep, physical activity, and the daily sleep-wake rhythm (i.e., circadian rhythm), are associated with autism spectrum-related traits. Accelerometer-derived sleep-wake parameters were estimated in individuals with autistic spectrum traits and their family members (N = 267). We evaluated autism spectrum traits using the Social Responsiveness Scale (SRS) to assess the presence and severity of social impairment and the Behavior Rating Inventory of Executive Function (BRIEF) to assess executive function. The linear multivariate regression analysis (using SOLAR-Eclipse) showed that in adults, increased core autism spectrum traits and executive dysfunction were associated with disruption of several sleep-wake parameters, particularly related to the daily sleep-wake rhythm, and that executive dysfunction was associated with disrupted sleep quality and level of physical activity. We highlight the interplay between daytime function and disrupted sleep-wake patterns, specifically related to the daily sleep-wake rhythm, that could guide future research into common mechanisms. LAY SUMMARY: Autistic children and adults often report sleep disturbances. To dissect the relationship between a range of autism spectrum traits and sleep-wake patterns, we assessed social interaction and executive function in participants who also wore actimetry watches on their wrists to assess their sleep-wake patterns. We found that increased impairments in social and executive function occurred with increased sleep-wake disturbances, particularly those related to the circadian rhythm, suggesting that these perturbations/disruptions in the sleep-wake cycle could be connected to autism spectrum traits. En ligne : https://dx.doi.org/10.1002/aur.2660 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473

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