Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations / M. ULJAREVIC in Journal of Autism and Developmental Disorders, 52-1 (January 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.414-422 Titre : Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations Type de document : Texte imprimé et/ou numérique Auteurs : M. ULJAREVIC, Auteur ; T. W. FRAZIER, Auteur ; G. RACHED, Auteur ; Robyn M. BUSCH, Auteur ; P. KLAAS, Auteur ; S. SRIVASTAVA, Auteur ; J. A. MARTINEZ-AGOSTO, Auteur ; M. SAHIN, Auteur ; C. ENG, Auteur ; A. Y. HARDAN, Auteur Article en page(s) : p.414-422 Langues : Anglais (eng) Mots-clés : Anxiety/genetics  Autism Spectrum Disorder/genetics  Child  Child, Preschool  Germ Cells  Germ-Line Mutation  Humans  PTEN Phosphohydrolase/genetics  Parents  Anxiety  Executive functioning  Insistence on sameness  Macrocephaly  Pten Index. décimale : PER Périodiques Résumé : This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with PTEN mutations and individuals with macrocephalic ASD. The sample included 38 individuals with PTEN mutation and ASD diagnosis (PTEN-ASD; M(age)?=?8.93 years, SD(age)?=?4.75), 23 with PTEN mutation without ASD (PTEN-no ASD; M(age)?=?8.94 years; SD(age)?=?4.85) and 25 with ASD and macrocephaly but with no PTEN mutation (Macro-ASD; M(age)?=?11.99 years; SD(age)?=?5.15). The final model accounted for 45.7% of variance in IS, with Set-Shifting EF subdomain as a unique independent predictor (t?=?4.12, p? En ligne : http://dx.doi.org/10.1007/s10803-021-04881-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 [article] Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations [Texte imprimé et/ou numérique] / M. ULJAREVIC, Auteur ; T. W. FRAZIER, Auteur ; G. RACHED, Auteur ; Robyn M. BUSCH, Auteur ; P. KLAAS, Auteur ; S. SRIVASTAVA, Auteur ; J. A. MARTINEZ-AGOSTO, Auteur ; M. SAHIN, Auteur ; C. ENG, Auteur ; A. Y. HARDAN, Auteur . - p.414-422. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.414-422 Mots-clés : Anxiety/genetics  Autism Spectrum Disorder/genetics  Child  Child, Preschool  Germ Cells  Germ-Line Mutation  Humans  PTEN Phosphohydrolase/genetics  Parents  Anxiety  Executive functioning  Insistence on sameness  Macrocephaly  Pten Index. décimale : PER Périodiques Résumé : This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with PTEN mutations and individuals with macrocephalic ASD. The sample included 38 individuals with PTEN mutation and ASD diagnosis (PTEN-ASD; M(age)?=?8.93 years, SD(age)?=?4.75), 23 with PTEN mutation without ASD (PTEN-no ASD; M(age)?=?8.94 years; SD(age)?=?4.85) and 25 with ASD and macrocephaly but with no PTEN mutation (Macro-ASD; M(age)?=?11.99 years; SD(age)?=?5.15). The final model accounted for 45.7% of variance in IS, with Set-Shifting EF subdomain as a unique independent predictor (t?=?4.12, p? En ligne : http://dx.doi.org/10.1007/s10803-021-04881-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

Brief Report: A Survey of Autism Research Priorities Across a Diverse Community of Stakeholders / T. W. FRAZIER in Journal of Autism and Developmental Disorders, 48-11 (November 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-11 (November 2018) . - p.3965-3971 Titre : Brief Report: A Survey of Autism Research Priorities Across a Diverse Community of Stakeholders Type de document : Texte imprimé et/ou numérique Auteurs : T. W. FRAZIER, Auteur ; G. DAWSON, Auteur ; D. MURRAY, Auteur ; A. SHIH, Auteur ; J. S. SACHS, Auteur ; A. GEIGER, Auteur Article en page(s) : p.3965-3971 Langues : Anglais (eng) Mots-clés : Adult transition  Autism  Caregivers  Funding  Research priorities  Stakeholders Index. décimale : PER Périodiques Résumé : Inclusion of stakeholder voices in the allocation of research funding can increase the relevance of results and improve community engagement in research. We describe the results of an online survey that gathered input from community stakeholders regarding autism research priorities. A demographically diverse sample of respondents (N = 6004; 79.1% female; 72.5% ages 30-59; 86.4% USA) completed the survey. Results indicated a preference for applied relative to basic science topics, though both basic and applied science areas were rated as important. Respondents gave their highest ratings to research focused on co-occurring conditions, health and well-being, adult transition, and lifespan issues. These results can guide decision-making by public and private funders when developing science funding priorities and engaging in science dissemination activities. En ligne : http://dx.doi.org/10.1007/s10803-018-3642-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=370 [article] Brief Report: A Survey of Autism Research Priorities Across a Diverse Community of Stakeholders [Texte imprimé et/ou numérique] / T. W. FRAZIER, Auteur ; G. DAWSON, Auteur ; D. MURRAY, Auteur ; A. SHIH, Auteur ; J. S. SACHS, Auteur ; A. GEIGER, Auteur . - p.3965-3971. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-11 (November 2018) . - p.3965-3971 Mots-clés : Adult transition  Autism  Caregivers  Funding  Research priorities  Stakeholders Index. décimale : PER Périodiques Résumé : Inclusion of stakeholder voices in the allocation of research funding can increase the relevance of results and improve community engagement in research. We describe the results of an online survey that gathered input from community stakeholders regarding autism research priorities. A demographically diverse sample of respondents (N = 6004; 79.1% female; 72.5% ages 30-59; 86.4% USA) completed the survey. Results indicated a preference for applied relative to basic science topics, though both basic and applied science areas were rated as important. Respondents gave their highest ratings to research focused on co-occurring conditions, health and well-being, adult transition, and lifespan issues. These results can guide decision-making by public and private funders when developing science funding priorities and engaging in science dissemination activities. En ligne : http://dx.doi.org/10.1007/s10803-018-3642-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=370

Development of the Stanford Social Dimensions Scale: initial validation in autism spectrum disorder and in neurotypicals / J. M. PHILLIPS in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 48 p. Titre : Development of the Stanford Social Dimensions Scale: initial validation in autism spectrum disorder and in neurotypicals Type de document : Texte imprimé et/ou numérique Auteurs : J. M. PHILLIPS, Auteur ; M. ULJAREVIC, Auteur ; R. K. SCHUCK, Auteur ; S. SCHAPP, Auteur ; E. M. SOLOMON, Auteur ; E. SALZMAN, Auteur ; Lauren ALLERHAND, Auteur ; R. A. LIBOVE, Auteur ; T. W. FRAZIER, Auteur ; A. Y. HARDAN, Auteur Article en page(s) : 48 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Social motivation  Social processing Index. décimale : PER Périodiques Résumé : Background: The aim of this paper was to provide an initial validation of a newly developed parent questionnaire-the Stanford Social Dimensions Scale (SSDS), designed to capture individual differences across several key social dimensions including social motivation in children and adolescents with and without psychiatric disorders. Methods: The initial validation sample was comprised of parents of 175 individuals with autism spectrum disorder (ASD) (35 females, 140 males; M age = 7.19 years, SD age = 3.96) and the replication sample consisted of 624 parents of children who were either typically developing or presented with a range of neurodevelopmental and neuropsychiatric disorders (302 females, 322 males; M age = 11.49 years, SDage = 4.48). Parents from both samples completed the SSDS and the Social Responsiveness Scale (SRS-2). Results: Exploratory Structural Equation Modeling indicated that a 5-factor model provided adequate to excellent fit to the data in the initial ASD sample (comparative fit index [CFI] = .940, Tucker-Lewis Index [TLI] = .919, root mean square error of approximation [RMSEA] = .048, standardized root mean square residual [SRMR] = .038). The identified factors were interpreted as Social Motivation, Social Affiliation, Expressive Social Communication, Social Recognition, and Unusual Approach. This factor structure was further confirmed in Sample 2 (CFI = 946, TLI = .930, RMSEA = .044, SRMR = .026). Internal consistency for all subscales was in the good to excellent range across both samples as indicated by Composite Reliability scores of >/= .72. Convergent and divergent validity was strong as indexed by the pattern of correlations with relevant SRS-2 and Child Behavior Checklist domains and with verbal and non-verbal intellectual functioning scores in Sample 1 and with the Need to Belong Scale and Child Social Preference Scale scores in Sample 2. Across both samples, females had higher social motivation and expressive social communication scores. Discriminant validity was strong given that across all SSDS subscales, the ASD sample had significantly higher impairment than both the typically developing group and the group with other clinical conditions, which in turn, had significantly higher impairment than the typically developing group. Conclusions: Our findings provide initial validation of a new scale designed to comprehensively capture individual differences in social motivation and other key social dimensions in ASD. En ligne : http://dx.doi.org/10.1186/s13229-019-0298-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Development of the Stanford Social Dimensions Scale: initial validation in autism spectrum disorder and in neurotypicals [Texte imprimé et/ou numérique] / J. M. PHILLIPS, Auteur ; M. ULJAREVIC, Auteur ; R. K. SCHUCK, Auteur ; S. SCHAPP, Auteur ; E. M. SOLOMON, Auteur ; E. SALZMAN, Auteur ; Lauren ALLERHAND, Auteur ; R. A. LIBOVE, Auteur ; T. W. FRAZIER, Auteur ; A. Y. HARDAN, Auteur . - 48 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 48 p. Mots-clés : Autism spectrum disorder  Social motivation  Social processing Index. décimale : PER Périodiques Résumé : Background: The aim of this paper was to provide an initial validation of a newly developed parent questionnaire-the Stanford Social Dimensions Scale (SSDS), designed to capture individual differences across several key social dimensions including social motivation in children and adolescents with and without psychiatric disorders. Methods: The initial validation sample was comprised of parents of 175 individuals with autism spectrum disorder (ASD) (35 females, 140 males; M age = 7.19 years, SD age = 3.96) and the replication sample consisted of 624 parents of children who were either typically developing or presented with a range of neurodevelopmental and neuropsychiatric disorders (302 females, 322 males; M age = 11.49 years, SDage = 4.48). Parents from both samples completed the SSDS and the Social Responsiveness Scale (SRS-2). Results: Exploratory Structural Equation Modeling indicated that a 5-factor model provided adequate to excellent fit to the data in the initial ASD sample (comparative fit index [CFI] = .940, Tucker-Lewis Index [TLI] = .919, root mean square error of approximation [RMSEA] = .048, standardized root mean square residual [SRMR] = .038). The identified factors were interpreted as Social Motivation, Social Affiliation, Expressive Social Communication, Social Recognition, and Unusual Approach. This factor structure was further confirmed in Sample 2 (CFI = 946, TLI = .930, RMSEA = .044, SRMR = .026). Internal consistency for all subscales was in the good to excellent range across both samples as indicated by Composite Reliability scores of >/= .72. Convergent and divergent validity was strong as indexed by the pattern of correlations with relevant SRS-2 and Child Behavior Checklist domains and with verbal and non-verbal intellectual functioning scores in Sample 1 and with the Need to Belong Scale and Child Social Preference Scale scores in Sample 2. Across both samples, females had higher social motivation and expressive social communication scores. Discriminant validity was strong given that across all SSDS subscales, the ASD sample had significantly higher impairment than both the typically developing group and the group with other clinical conditions, which in turn, had significantly higher impairment than the typically developing group. Conclusions: Our findings provide initial validation of a new scale designed to comprehensively capture individual differences in social motivation and other key social dimensions in ASD. En ligne : http://dx.doi.org/10.1186/s13229-019-0298-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

Erratum to: Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits / X. HE in Molecular Autism, 7 (2016)  

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 14p. Titre : Erratum to: Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits Type de document : Texte imprimé et/ou numérique Auteurs : X. HE, Auteur ; S. THACKER, Auteur ; T. ROMIGH, Auteur ; Q. YU, Auteur ; T. W. FRAZIER, Auteur ; C. ENG, Auteur Article en page(s) : 14p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s13229-015-0056-6.]. En ligne : http://dx.doi.org/10.1186/s13229-016-0075-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328 [article] Erratum to: Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits [Texte imprimé et/ou numérique] / X. HE, Auteur ; S. THACKER, Auteur ; T. ROMIGH, Auteur ; Q. YU, Auteur ; T. W. FRAZIER, Auteur ; C. ENG, Auteur . - 14p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 14p. Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s13229-015-0056-6.]. En ligne : http://dx.doi.org/10.1186/s13229-016-0075-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=328

Evidence-based use of scalable biomarkers to increase diagnostic efficiency and decrease the lifetime costs of autism / T. W. FRAZIER in Autism Research, 14-6 (June 2021)  

Public ISBD [article]  inAutism Research > 14-6 (June 2021) . - p.1271-1283 Titre : Evidence-based use of scalable biomarkers to increase diagnostic efficiency and decrease the lifetime costs of autism Type de document : Texte imprimé et/ou numérique Auteurs : T. W. FRAZIER, Auteur ; D. L. COURY, Auteur ; K. SOHL, Auteur ; Kayla E. WAGNER, Auteur ; R. UHLIG, Auteur ; S. D. HICKS, Auteur ; F. A. MIDDLETON, Auteur Article en page(s) : p.1271-1283 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Biomarkers  Child  Early Diagnosis  Humans  Mass Screening  United States  autism spectrum disorder  biomarkers  cost analysis  early diagnosis  evidence-based assessment  developer of the eye tracking test that was used in the EBM analysis. Thomas W.  Frazier has received federal funding or research support from, acted as a consultant  to, received travel support from, and/or received a speaker's honorarium from  Quadrant Biosciences, Impel NeuroPharma, F. Hoffmann?La Roche AG Pharmaceuticals,  the Cole Family Research Fund, Simons Foundation, Ingalls Foundation, Forest  Laboratories, Ecoeos, IntegraGen, Kugona LLC, Shire Development, Bristol?Myers  Squibb, Roche Pharma, National Institutes of Health, and the Brain and Behavior  Research Foundation and has an investor stake in AutismEYES LLC. Steven D. Hicks and  Frank A. Middleton are co?developers of the saliva RNA based autism test that is  used in the EBM analysis, and members of the Clinical and Scientific Advisory Boards  of Quadrant Biosciences. Kristin Sohl is director of ECHO Autism and both Kristin  Sohl and Daniel L. Coury are a member of the Clinical Advisory Board of Quadrant  Biosciences. Daniel L. Coury has received federal funding or research support from  National Institutes of Health, GW Biosciences, Neurim, Stemina Biosciences, and  Stalicla SA  and acted as a consultant to BioRosa, Cognoa, GW Biosciences, and  Stalicla SA. Kayla E. Wagner and Richard Uhlig are employees of Quadrant  Biosciences. Quadrant Biosciences holds patent rights and exclusive sales rights for  the Clarifi ASD saliva test. Index. décimale : PER Périodiques Résumé : Challenges associated with the current screening and diagnostic process for autism spectrum disorder (ASD) in the US cause a significant delay in the initiation of evidence-based interventions at an early age when treatments are most effective. The present study shows how implementing a second-order diagnostic measure to high risk cases initially flagged positive from screening tools can further inform clinical judgment and substantially improve early identification. We use two example measures for the purposes of this demonstration; a saliva test and eye-tracking technology, both scalable and easy-to-implement biomarkers recently introduced in ASD research. Results of the current cost-savings analysis indicate that lifetime societal cost savings in special education, medical and residential care are estimated to be nearly $580,000 per ASD child, with annual cost savings in education exceeding $13.3 billion, and annual cost savings in medical and residential care exceeding $23.8 billion (of these, nearly $11.2 billion are attributable to Medicaid). These savings total more than $37 billion/year in societal savings in the US. Initiating appropriate interventions faster and reducing the number of unnecessary diagnostic evaluations can decrease the lifetime costs of ASD to society. We demonstrate the value of implementing a scalable highly accurate diagnostic in terms of cost savings to the US. LAY SUMMARY: This paper demonstrates how biomarkers with high accuracy for detecting autism spectrum disorder (ASD) could be used to increase the efficiency of early diagnosis. Results also show that, if more children with ASD are identified early and referred for early intervention services, the system would realize substantial costs savings across the lifespan. En ligne : http://dx.doi.org/10.1002/aur.2498 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 [article] Evidence-based use of scalable biomarkers to increase diagnostic efficiency and decrease the lifetime costs of autism [Texte imprimé et/ou numérique] / T. W. FRAZIER, Auteur ; D. L. COURY, Auteur ; K. SOHL, Auteur ; Kayla E. WAGNER, Auteur ; R. UHLIG, Auteur ; S. D. HICKS, Auteur ; F. A. MIDDLETON, Auteur . - p.1271-1283. Langues : Anglais (eng) in Autism Research > 14-6 (June 2021) . - p.1271-1283 Mots-clés : Autism Spectrum Disorder/diagnosis  Autistic Disorder  Biomarkers  Child  Early Diagnosis  Humans  Mass Screening  United States  autism spectrum disorder  biomarkers  cost analysis  early diagnosis  evidence-based assessment  developer of the eye tracking test that was used in the EBM analysis. Thomas W.  Frazier has received federal funding or research support from, acted as a consultant  to, received travel support from, and/or received a speaker's honorarium from  Quadrant Biosciences, Impel NeuroPharma, F. Hoffmann?La Roche AG Pharmaceuticals,  the Cole Family Research Fund, Simons Foundation, Ingalls Foundation, Forest  Laboratories, Ecoeos, IntegraGen, Kugona LLC, Shire Development, Bristol?Myers  Squibb, Roche Pharma, National Institutes of Health, and the Brain and Behavior  Research Foundation and has an investor stake in AutismEYES LLC. Steven D. Hicks and  Frank A. Middleton are co?developers of the saliva RNA based autism test that is  used in the EBM analysis, and members of the Clinical and Scientific Advisory Boards  of Quadrant Biosciences. Kristin Sohl is director of ECHO Autism and both Kristin  Sohl and Daniel L. Coury are a member of the Clinical Advisory Board of Quadrant  Biosciences. Daniel L. Coury has received federal funding or research support from  National Institutes of Health, GW Biosciences, Neurim, Stemina Biosciences, and  Stalicla SA  and acted as a consultant to BioRosa, Cognoa, GW Biosciences, and  Stalicla SA. Kayla E. Wagner and Richard Uhlig are employees of Quadrant  Biosciences. Quadrant Biosciences holds patent rights and exclusive sales rights for  the Clarifi ASD saliva test. Index. décimale : PER Périodiques Résumé : Challenges associated with the current screening and diagnostic process for autism spectrum disorder (ASD) in the US cause a significant delay in the initiation of evidence-based interventions at an early age when treatments are most effective. The present study shows how implementing a second-order diagnostic measure to high risk cases initially flagged positive from screening tools can further inform clinical judgment and substantially improve early identification. We use two example measures for the purposes of this demonstration; a saliva test and eye-tracking technology, both scalable and easy-to-implement biomarkers recently introduced in ASD research. Results of the current cost-savings analysis indicate that lifetime societal cost savings in special education, medical and residential care are estimated to be nearly $580,000 per ASD child, with annual cost savings in education exceeding $13.3 billion, and annual cost savings in medical and residential care exceeding $23.8 billion (of these, nearly $11.2 billion are attributable to Medicaid). These savings total more than $37 billion/year in societal savings in the US. Initiating appropriate interventions faster and reducing the number of unnecessary diagnostic evaluations can decrease the lifetime costs of ASD to society. We demonstrate the value of implementing a scalable highly accurate diagnostic in terms of cost savings to the US. LAY SUMMARY: This paper demonstrates how biomarkers with high accuracy for detecting autism spectrum disorder (ASD) could be used to increase the efficiency of early diagnosis. Results also show that, if more children with ASD are identified early and referred for early intervention services, the system would realize substantial costs savings across the lifespan. En ligne : http://dx.doi.org/10.1002/aur.2498 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449

Food insecurity in the households of children with autism spectrum disorders and intellectual disabilities in the United States: Analysis of the National Survey of Children's Health Data 2016-2018 / A. KARPUR in Autism, 25-8 (November 2021)  

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A Longitudinal Study of Language Trajectories and Treatment Outcomes of Early Intensive Behavioral Intervention for Autism / T. W. FRAZIER in Journal of Autism and Developmental Disorders, 51-12 (December 2021)  

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Social attention as a cross-cultural transdiagnostic neurodevelopmental risk marker / T. W. FRAZIER in Autism Research, 14-9 (September 2021)  

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Using the big data approach to clarify the structure of restricted and repetitive behaviors across the most commonly used autism spectrum disorder measures / M. ULJAREVIC in Molecular Autism, 12 (2021)  

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