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Auteur Caitlin M. HUDAC |
Documents disponibles écrits par cet auteur (2)
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Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers / Caitlin M. HUDAC in Autism Research, 13-8 (August 2020)
[article]
Titre : Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers Type de document : Texte imprimé et/ou numérique Auteurs : Caitlin M. HUDAC, Auteur ; Joanna BOVE, Auteur ; Shelley BARBER, Auteur ; Michael DUYZEND, Auteur ; Ari WALLACE, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; Ellen HANSON, Auteur ; Robin P GOIN-KOCHEL, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur Article en page(s) : p.1300-1310 Langues : Anglais (eng) Mots-clés : 16p11.2 deletion 16p11.2 duplication adaptive functioning autism spectrum disorder cognitive functioning individual variability/heterogeneity Index. décimale : PER Périodiques Résumé : Individuals with 16p11.2 copy number variant (CNV) show considerable phenotypic heterogeneity. Although autism spectrum disorder (ASD) is reported in approximately 20-23% of individuals with 16p11.2 CNVs, ASD-associated symptoms are observed in those without a clinical ASD diagnosis. Previous work has shown that genetic variation and prenatal and perinatal birth complications influence ASD risk and symptom severity. This study examined the impact of genetic and environmental risk factors on phenotypic heterogeneity among 16p11.2 CNV carriers. Participants included individuals with a 16p11.2 deletion (N = 96) or duplication (N = 77) with exome sequencing from the Simons VIP study. The presence of prenatal factors, perinatal events, additional genetic events, and gender was studied. Regression analyses examined the contribution of each risk factor on ASD symptomatology, cognitive functioning, and adaptive abilities. For deletion carriers, perinatal and additional genetic events were associated with increased ASD symptomatology and decrements in cognitive and adaptive functioning. For duplication carriers, secondary genetic events were associated with greater cognitive impairments. Being female sex was a protective factor for both deletion and duplication carriers. Our findings suggest that ASD-associated risk factors contribute to the variability in symptom presentation in individuals with 16p11.2 CNVs. LAY SUMMARY: There are a wide range of autism spectrum disorder (ASD) symptoms and abilities observed for individuals with genetic changes of the 16p11.2 region. Here, we found perinatal complications contributed to more severe ASD symptoms (deletion carriers) and additional genetic mutations contributed to decreased cognitive abilities (deletion and duplication carriers). A potential protective factor was also observed for females with 16p11.2 variations. Autism Res 2020, 13: 1300-1310. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430
in Autism Research > 13-8 (August 2020) . - p.1300-1310[article] Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers [Texte imprimé et/ou numérique] / Caitlin M. HUDAC, Auteur ; Joanna BOVE, Auteur ; Shelley BARBER, Auteur ; Michael DUYZEND, Auteur ; Ari WALLACE, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; Ellen HANSON, Auteur ; Robin P GOIN-KOCHEL, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur . - p.1300-1310.
Langues : Anglais (eng)
in Autism Research > 13-8 (August 2020) . - p.1300-1310
Mots-clés : 16p11.2 deletion 16p11.2 duplication adaptive functioning autism spectrum disorder cognitive functioning individual variability/heterogeneity Index. décimale : PER Périodiques Résumé : Individuals with 16p11.2 copy number variant (CNV) show considerable phenotypic heterogeneity. Although autism spectrum disorder (ASD) is reported in approximately 20-23% of individuals with 16p11.2 CNVs, ASD-associated symptoms are observed in those without a clinical ASD diagnosis. Previous work has shown that genetic variation and prenatal and perinatal birth complications influence ASD risk and symptom severity. This study examined the impact of genetic and environmental risk factors on phenotypic heterogeneity among 16p11.2 CNV carriers. Participants included individuals with a 16p11.2 deletion (N = 96) or duplication (N = 77) with exome sequencing from the Simons VIP study. The presence of prenatal factors, perinatal events, additional genetic events, and gender was studied. Regression analyses examined the contribution of each risk factor on ASD symptomatology, cognitive functioning, and adaptive abilities. For deletion carriers, perinatal and additional genetic events were associated with increased ASD symptomatology and decrements in cognitive and adaptive functioning. For duplication carriers, secondary genetic events were associated with greater cognitive impairments. Being female sex was a protective factor for both deletion and duplication carriers. Our findings suggest that ASD-associated risk factors contribute to the variability in symptom presentation in individuals with 16p11.2 CNVs. LAY SUMMARY: There are a wide range of autism spectrum disorder (ASD) symptoms and abilities observed for individuals with genetic changes of the 16p11.2 region. Here, we found perinatal complications contributed to more severe ASD symptoms (deletion carriers) and additional genetic mutations contributed to decreased cognitive abilities (deletion and duplication carriers). A potential protective factor was also observed for females with 16p11.2 variations. Autism Res 2020, 13: 1300-1310. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 Social attention to activities in children and adults with autism spectrum disorder: effects of context and age / Dzmitry A. KALIUKHOVICH in Molecular Autism, 11 (2020)
[article]
Titre : Social attention to activities in children and adults with autism spectrum disorder: effects of context and age Type de document : Texte imprimé et/ou numérique Auteurs : Dzmitry A. KALIUKHOVICH, Auteur ; Nikolay V. MANYAKOV, Auteur ; Abigail BANGERTER, Auteur ; Seth NESS, Auteur ; Andrew SKALKIN, Auteur ; Matthew S GOODWIN, Auteur ; Geraldine DAWSON, Auteur ; Robert L. HENDREN, Auteur ; Bennett L. LEVENTHAL, Auteur ; Caitlin M. HUDAC, Auteur ; Jessica BRADSHAW, Auteur ; Frederick SHIC, Auteur ; Gahan PANDINA, Auteur Article en page(s) : 79 p. Langues : Anglais (eng) Mots-clés : Activity monitoring Autism spectrum disorder Biomarkers Eye tracking Social attention Skalkin (at the time of study conduct), and Gahan Pandina are employees of Janssen Research & Development, LLC and hold company stocks/stock options. Matthew Goodwin has received research and consulting funding from Janssen Research & Development, LLC. Geraldine Dawson is on the Scientific Advisory Boards of Janssen Research and Development, Akili, Inc., LabCorp, Inc., and Roche Pharmaceutical Company, a consultant for Apple, Inc, Gerson Lehrman Group, Guidepoint, Inc., Teva Pharmaceuticals, Tris Pharma, Inc., and Axial Ventures, has received grant funding from Janssen Research and Development, and is CEO of DASIO, LLC. Dawson has developed technology that has been licensed and Dawson and Duke University have benefited financially. Dawson receives royalties from Guilford Press, Springer, and Oxford University Press. Robert Hendren received reimbursement for consultation from Janssen Research & Development, LLC. Bennett Leventhal has received research grant funding from the NIH, is a consultant to Janssen Research and Development, LLC and the Illinois Children’s Healthcare Foundation, and is a board member of the Brain Research Foundation. Frederick Shic is on the Scientific Advisory Board of and is a consultant to Janssen Research and Development, LLC, and has received grant funding from Janssen Research and Development LLC, and Roche. Index. décimale : PER Périodiques Résumé : BACKGROUND: Diminished visual monitoring of faces and activities of others is an early feature of autism spectrum disorder (ASD). It is uncertain whether deficits in activity monitoring, identified using a homogeneous set of stimuli, persist throughout the lifespan in ASD, and thus, whether they could serve as a biological indicator ("biomarker") of ASD. We investigated differences in visual attention during activity monitoring in children and adult participants with autism compared to a control group of participants without autism. METHODS: Eye movements of participants with autism (n?=?122; mean age [SD]?=?14.5 [8.0] years) and typically developing (TD) controls (n?=?40, age?=?16.4 [13.3] years) were recorded while they viewed a series of videos depicting two female actors conversing while interacting with their hands over a shared task. Actors either continuously focused their gaze on each other's face (mutual gaze) or on the shared activity area (shared focus). Mean percentage looking time was computed for the activity area, actors' heads, and their bodies. RESULTS: Compared to TD participants, participants with ASD looked longer at the activity area (mean % looking time: 58.5% vs. 53.8%, p?0.005) but less at the heads (15.2% vs. 23.7%, p?0.0001). Additionally, within-group differences in looking time were observed between the mutual gaze and shared focus conditions in both participants without ASD (activity: ??=?-?6.4%, p?0.004; heads: ??=?+?3.5%, p?0.02) and participants with ASD (bodies: ??=?+?1.6%, p?0.002). LIMITATIONS: The TD participants were not as well characterized as the participants with ASD. Inclusion criteria regarding the cognitive ability [intelligence quotient (IQ)?>?60] limited the ability to include individuals with substantial intellectual disability. CONCLUSIONS: Differences in attention to faces could constitute a feature discriminative between individuals with and without ASD across the lifespan, whereas between-group differences in looking at activities may shift with development. These findings may have applications in the search for underlying biological indicators specific to ASD. Trial registration ClinicalTrials.gov identifier NCT02668991. En ligne : http://dx.doi.org/10.1186/s13229-020-00388-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433
in Molecular Autism > 11 (2020) . - 79 p.[article] Social attention to activities in children and adults with autism spectrum disorder: effects of context and age [Texte imprimé et/ou numérique] / Dzmitry A. KALIUKHOVICH, Auteur ; Nikolay V. MANYAKOV, Auteur ; Abigail BANGERTER, Auteur ; Seth NESS, Auteur ; Andrew SKALKIN, Auteur ; Matthew S GOODWIN, Auteur ; Geraldine DAWSON, Auteur ; Robert L. HENDREN, Auteur ; Bennett L. LEVENTHAL, Auteur ; Caitlin M. HUDAC, Auteur ; Jessica BRADSHAW, Auteur ; Frederick SHIC, Auteur ; Gahan PANDINA, Auteur . - 79 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 79 p.
Mots-clés : Activity monitoring Autism spectrum disorder Biomarkers Eye tracking Social attention Skalkin (at the time of study conduct), and Gahan Pandina are employees of Janssen Research & Development, LLC and hold company stocks/stock options. Matthew Goodwin has received research and consulting funding from Janssen Research & Development, LLC. Geraldine Dawson is on the Scientific Advisory Boards of Janssen Research and Development, Akili, Inc., LabCorp, Inc., and Roche Pharmaceutical Company, a consultant for Apple, Inc, Gerson Lehrman Group, Guidepoint, Inc., Teva Pharmaceuticals, Tris Pharma, Inc., and Axial Ventures, has received grant funding from Janssen Research and Development, and is CEO of DASIO, LLC. Dawson has developed technology that has been licensed and Dawson and Duke University have benefited financially. Dawson receives royalties from Guilford Press, Springer, and Oxford University Press. Robert Hendren received reimbursement for consultation from Janssen Research & Development, LLC. Bennett Leventhal has received research grant funding from the NIH, is a consultant to Janssen Research and Development, LLC and the Illinois Children’s Healthcare Foundation, and is a board member of the Brain Research Foundation. Frederick Shic is on the Scientific Advisory Board of and is a consultant to Janssen Research and Development, LLC, and has received grant funding from Janssen Research and Development LLC, and Roche. Index. décimale : PER Périodiques Résumé : BACKGROUND: Diminished visual monitoring of faces and activities of others is an early feature of autism spectrum disorder (ASD). It is uncertain whether deficits in activity monitoring, identified using a homogeneous set of stimuli, persist throughout the lifespan in ASD, and thus, whether they could serve as a biological indicator ("biomarker") of ASD. We investigated differences in visual attention during activity monitoring in children and adult participants with autism compared to a control group of participants without autism. METHODS: Eye movements of participants with autism (n?=?122; mean age [SD]?=?14.5 [8.0] years) and typically developing (TD) controls (n?=?40, age?=?16.4 [13.3] years) were recorded while they viewed a series of videos depicting two female actors conversing while interacting with their hands over a shared task. Actors either continuously focused their gaze on each other's face (mutual gaze) or on the shared activity area (shared focus). Mean percentage looking time was computed for the activity area, actors' heads, and their bodies. RESULTS: Compared to TD participants, participants with ASD looked longer at the activity area (mean % looking time: 58.5% vs. 53.8%, p?0.005) but less at the heads (15.2% vs. 23.7%, p?0.0001). Additionally, within-group differences in looking time were observed between the mutual gaze and shared focus conditions in both participants without ASD (activity: ??=?-?6.4%, p?0.004; heads: ??=?+?3.5%, p?0.02) and participants with ASD (bodies: ??=?+?1.6%, p?0.002). LIMITATIONS: The TD participants were not as well characterized as the participants with ASD. Inclusion criteria regarding the cognitive ability [intelligence quotient (IQ)?>?60] limited the ability to include individuals with substantial intellectual disability. CONCLUSIONS: Differences in attention to faces could constitute a feature discriminative between individuals with and without ASD across the lifespan, whereas between-group differences in looking at activities may shift with development. These findings may have applications in the search for underlying biological indicators specific to ASD. Trial registration ClinicalTrials.gov identifier NCT02668991. En ligne : http://dx.doi.org/10.1186/s13229-020-00388-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433