Association between family history of suicide attempt and neurocognitive functioning in community youth / Jason D. JONES in Journal of Child Psychology and Psychiatry, 62-1 (January 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-1 (January 2021) . - p.58-65 Titre : Association between family history of suicide attempt and neurocognitive functioning in community youth Type de document : Texte imprimé et/ou numérique Auteurs : Jason D. JONES, Auteur ; Rhonda C. BOYD, Auteur ; Monica E. CALKINS, Auteur ; Tyler M. MOORE, Auteur ; Annisa AHMED, Auteur ; Ran BARZILAY, Auteur ; Tami D. BENTON, Auteur ; Raquel E. GUR, Auteur ; Ruben C. GUR, Auteur Article en page(s) : p.58-65 Langues : Anglais (eng) Mots-clés : Family history  cognition  endophenotype  suicide Index. décimale : PER Périodiques Résumé : BACKGROUND: Suicidal behavior is highly familial. Neurocognitive deficits have been proposed as an endophenotype for suicide risk that may contribute to the familial transmission of suicide. Yet, there is a lack of research on the neurocognitive functioning of first-degree biological relatives of suicide attempters. The aim of the present study is to conduct the largest investigation to date of neurocognitive functioning in community youth with a family history of a fatal or nonfatal suicide attempt (FH). METHODS: Participants aged 8-21 years from the Philadelphia Neurodevelopmental Cohort completed detailed clinical and neurocognitive evaluations. A subsample of 501 participants with a FH was matched to a comparison group of 3,006 participants without a family history of suicide attempt (no-FH) on age, sex, race, and lifetime depression. RESULTS: After adjusting for multiple comparisons and including relevant clinical and demographic covariates, youth with a FH had significantly lower executive function factor scores (F[1,3432] = 6.63, p = .010) and performed worse on individual tests of attention (F[1,3382] = 7.08, p = .008) and language reasoning (F[1,3387] = 5.12, p = .024) than no-FH youth. CONCLUSIONS: Youth with a FH show small differences in executive function, attention, and language reasoning compared to youth without a FH. Further research is warranted to investigate neurocognitive functioning as an endophenotype for suicide risk. Implications for the prevention and treatment of suicidal behaviors are discussed. En ligne : http://dx.doi.org/10.1111/jcpp.13239 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=435 [article] Association between family history of suicide attempt and neurocognitive functioning in community youth [Texte imprimé et/ou numérique] / Jason D. JONES, Auteur ; Rhonda C. BOYD, Auteur ; Monica E. CALKINS, Auteur ; Tyler M. MOORE, Auteur ; Annisa AHMED, Auteur ; Ran BARZILAY, Auteur ; Tami D. BENTON, Auteur ; Raquel E. GUR, Auteur ; Ruben C. GUR, Auteur . - p.58-65. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-1 (January 2021) . - p.58-65 Mots-clés : Family history  cognition  endophenotype  suicide Index. décimale : PER Périodiques Résumé : BACKGROUND: Suicidal behavior is highly familial. Neurocognitive deficits have been proposed as an endophenotype for suicide risk that may contribute to the familial transmission of suicide. Yet, there is a lack of research on the neurocognitive functioning of first-degree biological relatives of suicide attempters. The aim of the present study is to conduct the largest investigation to date of neurocognitive functioning in community youth with a family history of a fatal or nonfatal suicide attempt (FH). METHODS: Participants aged 8-21 years from the Philadelphia Neurodevelopmental Cohort completed detailed clinical and neurocognitive evaluations. A subsample of 501 participants with a FH was matched to a comparison group of 3,006 participants without a family history of suicide attempt (no-FH) on age, sex, race, and lifetime depression. RESULTS: After adjusting for multiple comparisons and including relevant clinical and demographic covariates, youth with a FH had significantly lower executive function factor scores (F[1,3432] = 6.63, p = .010) and performed worse on individual tests of attention (F[1,3382] = 7.08, p = .008) and language reasoning (F[1,3387] = 5.12, p = .024) than no-FH youth. CONCLUSIONS: Youth with a FH show small differences in executive function, attention, and language reasoning compared to youth without a FH. Further research is warranted to investigate neurocognitive functioning as an endophenotype for suicide risk. Implications for the prevention and treatment of suicidal behaviors are discussed. En ligne : http://dx.doi.org/10.1111/jcpp.13239 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=435

Defining behavioral components of social functioning in adults with autism spectrum disorder as targets for treatment / Ashley A. PALLATHRA in Autism Research, 11-3 (March 2018)  

Public ISBD [article]  inAutism Research > 11-3 (March 2018) . - p.488-502 Titre : Defining behavioral components of social functioning in adults with autism spectrum disorder as targets for treatment Type de document : Texte imprimé et/ou numérique Auteurs : Ashley A. PALLATHRA, Auteur ; Monica E. CALKINS, Auteur ; Julia PARISH-MORRIS, Auteur ; B. B. MADDOX, Auteur ; L. S. PEREZ, Auteur ; J. MILLER, Auteur ; Ruben C. GUR, Auteur ; D. S. MANDELL, Auteur ; Robert T. SCHULTZ, Auteur ; Edward S. BRODKIN, Auteur Article en page(s) : p.488-502 Langues : Anglais (eng) Mots-clés : adult autism spectrum disorder  anxiety  cognition  motivation  skills  social functioning  treatment Index. décimale : PER Périodiques Résumé : There is increasing recognition that adults with autism spectrum disorder (ASD) would benefit from treatment to improve social functioning, a key factor in adults' overall quality of life. However, the various behavioral components of social functioning (i.e., categories of behaviors underlying social functioning), including social motivation, social anxiety, social cognition, and social skills, have not all been assessed together in any sample of adults with ASD, making it difficult to know the relative levels of impairment in these various categories, the relationships among these categories, or promising targets for treatments. We hypothesized there would be significant correlations among measures within the same category, but fewer correlations of measures between categories, indicating the heterogeneity of impairments in adults with ASD. Twenty-nine adults with ASD without co-occurring intellectual disability completed multiple assessments measuring social motivation, social anxiety, social cognition, and social skills, as well as measures of overall ASD symptom levels and community functioning. Results revealed significant positive correlations among measures within most categories; positive correlations between measures of social motivation and all other categories, except for social cognition; as well as positive cross-domain correlations between measures of anxiety and ASD phenotype; measures of social skills and community functioning; and measures of social skills and ASD phenotype. Further studies are warranted to determine causal relationships among these behavioral categories, across developmental stages. However, the lack of correlations between many categories suggests the potential importance of multidimensional treatments that target the particular components of social functioning most in need of improvement in individuals. Autism Res 2018, 11: 488-502. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The goal of this study was to measure behaviors that contribute to social functioning difficulties in adults with ASD, with the ultimate goal of guiding treatment development. We found that motivation to interact with others was significantly related to social anxiety and social skill. Our results suggest that motivation may be important to target in treatment, and that treatments should be tailored to the areas most in need of improvement in each individual. En ligne : http://dx.doi.org/10.1002/aur.1910 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=352 [article] Defining behavioral components of social functioning in adults with autism spectrum disorder as targets for treatment [Texte imprimé et/ou numérique] / Ashley A. PALLATHRA, Auteur ; Monica E. CALKINS, Auteur ; Julia PARISH-MORRIS, Auteur ; B. B. MADDOX, Auteur ; L. S. PEREZ, Auteur ; J. MILLER, Auteur ; Ruben C. GUR, Auteur ; D. S. MANDELL, Auteur ; Robert T. SCHULTZ, Auteur ; Edward S. BRODKIN, Auteur . - p.488-502. Langues : Anglais (eng) in Autism Research > 11-3 (March 2018) . - p.488-502 Mots-clés : adult autism spectrum disorder  anxiety  cognition  motivation  skills  social functioning  treatment Index. décimale : PER Périodiques Résumé : There is increasing recognition that adults with autism spectrum disorder (ASD) would benefit from treatment to improve social functioning, a key factor in adults' overall quality of life. However, the various behavioral components of social functioning (i.e., categories of behaviors underlying social functioning), including social motivation, social anxiety, social cognition, and social skills, have not all been assessed together in any sample of adults with ASD, making it difficult to know the relative levels of impairment in these various categories, the relationships among these categories, or promising targets for treatments. We hypothesized there would be significant correlations among measures within the same category, but fewer correlations of measures between categories, indicating the heterogeneity of impairments in adults with ASD. Twenty-nine adults with ASD without co-occurring intellectual disability completed multiple assessments measuring social motivation, social anxiety, social cognition, and social skills, as well as measures of overall ASD symptom levels and community functioning. Results revealed significant positive correlations among measures within most categories; positive correlations between measures of social motivation and all other categories, except for social cognition; as well as positive cross-domain correlations between measures of anxiety and ASD phenotype; measures of social skills and community functioning; and measures of social skills and ASD phenotype. Further studies are warranted to determine causal relationships among these behavioral categories, across developmental stages. However, the lack of correlations between many categories suggests the potential importance of multidimensional treatments that target the particular components of social functioning most in need of improvement in individuals. Autism Res 2018, 11: 488-502. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The goal of this study was to measure behaviors that contribute to social functioning difficulties in adults with ASD, with the ultimate goal of guiding treatment development. We found that motivation to interact with others was significantly related to social anxiety and social skill. Our results suggest that motivation may be important to target in treatment, and that treatments should be tailored to the areas most in need of improvement in each individual. En ligne : http://dx.doi.org/10.1002/aur.1910 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=352

Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus / Leila KUSHAN-WELLS ; Charles H. SCHLEIFER ; Shayne CRUZ ; Gil D. HOFTMAN ; Maria JALBRZIKOWSKI ; Raquel E. GUR ; Ruben C. GUR ; Carrie E. BEARDEN in Autism Research, 16-12 (December 2023)  

Public ISBD [article]  inAutism Research > 16-12 (December 2023) . - p.2247-2262 Titre : Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus Type de document : Texte imprimé et/ou numérique Auteurs : Leila KUSHAN-WELLS, Auteur ; Charles H. SCHLEIFER, Auteur ; Shayne CRUZ, Auteur ; Gil D. HOFTMAN, Auteur ; Maria JALBRZIKOWSKI, Auteur ; Raquel E. GUR, Auteur ; Ruben C. GUR, Auteur ; Carrie E. BEARDEN, Auteur Article en page(s) : p.2247-2262 Index. décimale : PER Périodiques Résumé : Abstract Rare genetic variants that confer large effects on neurodevelopment and behavioral phenotypes can reveal novel gene-brain-behavior relationships relevant to autism. Copy number variation at the 22q11.2 locus offer one compelling example, as both the 22q11.2 deletion (22qDel) and duplication (22qDup) confer increased likelihood of autism spectrum disorders (ASD) and cognitive deficits, but only 22qDel confers increased psychosis risk. Here, we used the Penn Computerized Neurocognitive Battery (Penn-CNB) to characterized neurocognitive profiles of 126 individuals: 55 22qDel carriers (MAge = 19.2?years, 49.1% male), 30 22qDup carriers (MAge = 17.3?years, 53.3% male), and 41 typically developing (TD) subjects (MAge = 17.3?years, 39.0% male). We performed linear mixed models to assess group differences in overall neurocognitive profiles, domain scores, and individual test scores. We found all three groups exhibited distinct overall neurocognitive profiles. 22qDel and 22qDup carriers showed significant accuracy deficits across all domains relative to controls (episodic memory, executive function, complex cognition, social cognition, and sensorimotor speed), with 22qDel carriers exhibiting more severe accuracy deficits, particularly in episodic memory. However, 22qDup carriers generally showed greater slowing than 22qDel carriers. Notably, slower social cognition speed was uniquely associated with increased global psychopathology and poorer psychosocial functioning in 22qDup. Compared to TD, 22q11.2 copy number variants (CNV) carriers failed to show age-associated improvements in multiple cognitive domains. Exploratory analyses revealed 22q11.2 CNV carriers with ASD exhibited differential neurocognitive profiles, based on 22q11.2 copy number. These results suggest that there are distinct neurocognitive profiles associated with either a loss or gain of genomic material at the 22q11.2 locus. En ligne : https://doi.org/10.1002/aur.3049 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518 [article] Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus [Texte imprimé et/ou numérique] / Leila KUSHAN-WELLS, Auteur ; Charles H. SCHLEIFER, Auteur ; Shayne CRUZ, Auteur ; Gil D. HOFTMAN, Auteur ; Maria JALBRZIKOWSKI, Auteur ; Raquel E. GUR, Auteur ; Ruben C. GUR, Auteur ; Carrie E. BEARDEN, Auteur . - p.2247-2262. in Autism Research > 16-12 (December 2023) . - p.2247-2262 Index. décimale : PER Périodiques Résumé : Abstract Rare genetic variants that confer large effects on neurodevelopment and behavioral phenotypes can reveal novel gene-brain-behavior relationships relevant to autism. Copy number variation at the 22q11.2 locus offer one compelling example, as both the 22q11.2 deletion (22qDel) and duplication (22qDup) confer increased likelihood of autism spectrum disorders (ASD) and cognitive deficits, but only 22qDel confers increased psychosis risk. Here, we used the Penn Computerized Neurocognitive Battery (Penn-CNB) to characterized neurocognitive profiles of 126 individuals: 55 22qDel carriers (MAge = 19.2?years, 49.1% male), 30 22qDup carriers (MAge = 17.3?years, 53.3% male), and 41 typically developing (TD) subjects (MAge = 17.3?years, 39.0% male). We performed linear mixed models to assess group differences in overall neurocognitive profiles, domain scores, and individual test scores. We found all three groups exhibited distinct overall neurocognitive profiles. 22qDel and 22qDup carriers showed significant accuracy deficits across all domains relative to controls (episodic memory, executive function, complex cognition, social cognition, and sensorimotor speed), with 22qDel carriers exhibiting more severe accuracy deficits, particularly in episodic memory. However, 22qDup carriers generally showed greater slowing than 22qDel carriers. Notably, slower social cognition speed was uniquely associated with increased global psychopathology and poorer psychosocial functioning in 22qDup. Compared to TD, 22q11.2 copy number variants (CNV) carriers failed to show age-associated improvements in multiple cognitive domains. Exploratory analyses revealed 22q11.2 CNV carriers with ASD exhibited differential neurocognitive profiles, based on 22q11.2 copy number. These results suggest that there are distinct neurocognitive profiles associated with either a loss or gain of genomic material at the 22q11.2 locus. En ligne : https://doi.org/10.1002/aur.3049 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518

Evidence for Gender-Specific Endophenotypes in High-Functioning Autism Spectrum Disorder During Empathy / Karla SCHNEIDER in Autism Research, 6-6 (December 2013)  

Public ISBD [article]  inAutism Research > 6-6 (December 2013) . - p.506-521 Titre : Evidence for Gender-Specific Endophenotypes in High-Functioning Autism Spectrum Disorder During Empathy Type de document : Texte imprimé et/ou numérique Auteurs : Karla SCHNEIDER, Auteur ; Christina REGENBOGEN, Auteur ; Katharina D. PAULY, Auteur ; Anna GOSSEN, Auteur ; Daniel A. SCHNEIDER, Auteur ; Lea MEVISSEN, Auteur ; Tanja M. MICHEL, Auteur ; Ruben C. GUR, Auteur ; Ute HABEL, Auteur ; Frank SCHNEIDER, Auteur Année de publication : 2013 Article en page(s) : p.506-521 Langues : Anglais (eng) Mots-clés : autism  empathy  gender differences  fMRI  social interactions Index. décimale : PER Périodiques Résumé : Despite remarkable behavioral gender differences in patients with autism spectrum disorder (ASD), and growing evidence for a diminished male?:?female ratio for the putative “male disorder” ASD, aspects of gender are not addressed accordingly in ASD research. Our study aims at filling this gap by exploring empathy abilities in a group of 28 patients with high-functioning ASD and 28 gender-, age- and education-matched non-autistic subjects, for the first time by means of functional neuroimaging (fMRI). In an event-related fMRI paradigm, emotional (“E”) and neutral (“N”) video clips presented actors telling self-related short stories. After each clip, participants were asked to indicate their own emotion and its intensity as well as the emotion and intensity perceived for the actor. Behaviorally, we found significantly less empathic responses in the overall ASD group compared with non-autistic subjects, and inadequate emotion recognition for the neutral clips in the female ASD group compared with healthy women. Neurally, increased activation of the bilateral medial frontal gyrus was found in male patients compared with female patients, a pattern which was not present in the non-autistic group. Additionally, autistic women exhibited decreased activation of midbrain and limbic regions compared with non-autistic women, whereas there was no significant difference within the male group. While we did not find a fundamental empathic deficit in autistic patients, our data propose different ways of processing empathy in autistic men and women, suggesting stronger impairments in cognitive aspects of empathy/theory of mind for men, and alterations of social reciprocity for women. En ligne : http://dx.doi.org/10.1002/aur.1310 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=221 [article] Evidence for Gender-Specific Endophenotypes in High-Functioning Autism Spectrum Disorder During Empathy [Texte imprimé et/ou numérique] / Karla SCHNEIDER, Auteur ; Christina REGENBOGEN, Auteur ; Katharina D. PAULY, Auteur ; Anna GOSSEN, Auteur ; Daniel A. SCHNEIDER, Auteur ; Lea MEVISSEN, Auteur ; Tanja M. MICHEL, Auteur ; Ruben C. GUR, Auteur ; Ute HABEL, Auteur ; Frank SCHNEIDER, Auteur . - 2013 . - p.506-521. Langues : Anglais (eng) in Autism Research > 6-6 (December 2013) . - p.506-521 Mots-clés : autism  empathy  gender differences  fMRI  social interactions Index. décimale : PER Périodiques Résumé : Despite remarkable behavioral gender differences in patients with autism spectrum disorder (ASD), and growing evidence for a diminished male?:?female ratio for the putative “male disorder” ASD, aspects of gender are not addressed accordingly in ASD research. Our study aims at filling this gap by exploring empathy abilities in a group of 28 patients with high-functioning ASD and 28 gender-, age- and education-matched non-autistic subjects, for the first time by means of functional neuroimaging (fMRI). In an event-related fMRI paradigm, emotional (“E”) and neutral (“N”) video clips presented actors telling self-related short stories. After each clip, participants were asked to indicate their own emotion and its intensity as well as the emotion and intensity perceived for the actor. Behaviorally, we found significantly less empathic responses in the overall ASD group compared with non-autistic subjects, and inadequate emotion recognition for the neutral clips in the female ASD group compared with healthy women. Neurally, increased activation of the bilateral medial frontal gyrus was found in male patients compared with female patients, a pattern which was not present in the non-autistic group. Additionally, autistic women exhibited decreased activation of midbrain and limbic regions compared with non-autistic women, whereas there was no significant difference within the male group. While we did not find a fundamental empathic deficit in autistic patients, our data propose different ways of processing empathy in autistic men and women, suggesting stronger impairments in cognitive aspects of empathy/theory of mind for men, and alterations of social reciprocity for women. En ligne : http://dx.doi.org/10.1002/aur.1310 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=221

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

Reduced Responsiveness to Social Provocation in Autism Spectrum Disorder / Isabella SCHNEIDER in Autism Research, 8-3 (June 2015)  

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The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative / Monica E. CALKINS in Journal of Child Psychology and Psychiatry, 56-12 (December 2015)  

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