Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys / O. OZTAN in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 50 p. Titre : Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys Type de document : texte imprimé Auteurs : O. OZTAN, Auteur ; Catherine F. TALBOT, Auteur ; E. ARGILLI, Auteur ; A.C. MANESS, Auteur ; Sierra M. SIMMONS, Auteur ; N. MOHSIN, Auteur ; L.A. DEL ROSSO, Auteur ; Joseph P. GARNER, Auteur ; Elliott H. SHERR, Auteur ; John P. CAPITANIO, Auteur ; Karen J. PARKER, Auteur Article en page(s) : 50 p. Langues : Anglais (eng) Mots-clés : Arginine vasopressin  Autism spectrum disorder  Biomarker  Cerebrospinal fluid  Kinase signaling pathway  Oxytocin  Rhesus macaque  Social responsiveness scale  Social trait variation  the University of California, San Francisco (UCSF) have filed patent applications  related to biological measures studied herein (Stanford University:  PCT/US2019/019029 “Methods for diagnosing and for determining severity of an autism  spectrum disorder”  UCSF: PCT/US2016/014623 “Methods of diagnosing and treating  autism spectrum disorders”). These patents have not been granted or licensed, and no  study author is receiving any financial compensation at this time. EHS serves on the  advisory board for Retrophin Inc. All other authors declare that they have no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Rhesus monkeys (Macaca mulatta) exhibit pronounced individual differences in social traits as measured by the macaque Social Responsiveness Scale-Revised. The macaque Social Responsiveness Scale was previously adapted from the Social Responsiveness Scale, an instrument designed to assess social and autistic trait variation in humans. To better understand potential biological underpinnings of this behavioral variation, we evaluated the trait-like consistency of several biological measures previously implicated in autism (e.g., arginine vasopressin, oxytocin, and their receptors, as well as ERK1/2, PTEN, and AKT(1-3) from the RAS-MAPK and PI3K-AKT pathways). We also tested which biological measures predicted macaque Social Responsiveness Scale-Revised scores. METHODS: Cerebrospinal fluid and blood samples were collected from N = 76 male monkeys, which, as a sample, showed a continuous distribution on the macaque Social Responsiveness Scale-Revised. In a subset of these subjects (n = 43), samples were collected thrice over a 10-month period. The following statistical tests were used: "Case 2A" intra-class correlation coefficients of consistency, principal component analysis, and general linear modeling. RESULTS: All biological measures (except AKT) showed significant test-retest reliability within individuals across time points. We next performed principal component analysis on data from monkeys with complete biological measurement sets at the first time point (n = 57), to explore potential correlations between the reliable biological measures and their relationship to macaque Social Responsiveness Scale-Revised score; a three-component solution was found. Follow-up analyses revealed that cerebrospinal fluid arginine vasopressin concentration, but no other biological measure, robustly predicted individual differences in macaque Social Responsiveness Scale-Revised scores, such that monkeys with the lowest cerebrospinal fluid arginine vasopressin concentration exhibited the greatest social impairment. Finally, we confirmed that this result held in the larger study sample (in which cerebrospinal fluid arginine vasopressin values were available from n = 75 of the subjects). CONCLUSIONS: These findings indicate that cerebrospinal fluid arginine vasopressin concentration is a stable trait-like measure and that it is linked to quantitative social trait variation in male rhesus monkeys. En ligne : http://dx.doi.org/10.1186/s13229-021-00442-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys [texte imprimé] / O. OZTAN, Auteur ; Catherine F. TALBOT, Auteur ; E. ARGILLI, Auteur ; A.C. MANESS, Auteur ; Sierra M. SIMMONS, Auteur ; N. MOHSIN, Auteur ; L.A. DEL ROSSO, Auteur ; Joseph P. GARNER, Auteur ; Elliott H. SHERR, Auteur ; John P. CAPITANIO, Auteur ; Karen J. PARKER, Auteur . - 50 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 50 p. Mots-clés : Arginine vasopressin  Autism spectrum disorder  Biomarker  Cerebrospinal fluid  Kinase signaling pathway  Oxytocin  Rhesus macaque  Social responsiveness scale  Social trait variation  the University of California, San Francisco (UCSF) have filed patent applications  related to biological measures studied herein (Stanford University:  PCT/US2019/019029 “Methods for diagnosing and for determining severity of an autism  spectrum disorder”  UCSF: PCT/US2016/014623 “Methods of diagnosing and treating  autism spectrum disorders”). These patents have not been granted or licensed, and no  study author is receiving any financial compensation at this time. EHS serves on the  advisory board for Retrophin Inc. All other authors declare that they have no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Rhesus monkeys (Macaca mulatta) exhibit pronounced individual differences in social traits as measured by the macaque Social Responsiveness Scale-Revised. The macaque Social Responsiveness Scale was previously adapted from the Social Responsiveness Scale, an instrument designed to assess social and autistic trait variation in humans. To better understand potential biological underpinnings of this behavioral variation, we evaluated the trait-like consistency of several biological measures previously implicated in autism (e.g., arginine vasopressin, oxytocin, and their receptors, as well as ERK1/2, PTEN, and AKT(1-3) from the RAS-MAPK and PI3K-AKT pathways). We also tested which biological measures predicted macaque Social Responsiveness Scale-Revised scores. METHODS: Cerebrospinal fluid and blood samples were collected from N = 76 male monkeys, which, as a sample, showed a continuous distribution on the macaque Social Responsiveness Scale-Revised. In a subset of these subjects (n = 43), samples were collected thrice over a 10-month period. The following statistical tests were used: "Case 2A" intra-class correlation coefficients of consistency, principal component analysis, and general linear modeling. RESULTS: All biological measures (except AKT) showed significant test-retest reliability within individuals across time points. We next performed principal component analysis on data from monkeys with complete biological measurement sets at the first time point (n = 57), to explore potential correlations between the reliable biological measures and their relationship to macaque Social Responsiveness Scale-Revised score; a three-component solution was found. Follow-up analyses revealed that cerebrospinal fluid arginine vasopressin concentration, but no other biological measure, robustly predicted individual differences in macaque Social Responsiveness Scale-Revised scores, such that monkeys with the lowest cerebrospinal fluid arginine vasopressin concentration exhibited the greatest social impairment. Finally, we confirmed that this result held in the larger study sample (in which cerebrospinal fluid arginine vasopressin values were available from n = 75 of the subjects). CONCLUSIONS: These findings indicate that cerebrospinal fluid arginine vasopressin concentration is a stable trait-like measure and that it is linked to quantitative social trait variation in male rhesus monkeys. En ligne : http://dx.doi.org/10.1186/s13229-021-00442-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication / LeeAnne GREEN SNYDER in Journal of Autism and Developmental Disorders, 46-8 (August 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748 Titre : Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication Type de document : texte imprimé Auteurs : LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael A. BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily S. KUSCHNER, Auteur ; Timothy P.L. ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur Article en page(s) : p.2734-2748 Langues : Anglais (eng) Mots-clés : 16p11.2 duplication  Genetics  Neuropsychological  Autism  Intellectual disability  Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291 [article] Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication [texte imprimé] / LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael A. BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily S. KUSCHNER, Auteur ; Timothy P.L. ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur . - p.2734-2748. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748 Mots-clés : 16p11.2 duplication  Genetics  Neuropsychological  Autism  Intellectual disability  Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291

Autism Traits in Individuals with Agenesis of the Corpus Callosum / Yolanda C. LAU in Journal of Autism and Developmental Disorders, 43-5 (May 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-5 (May 2013) . - p.1106-1118 Titre : Autism Traits in Individuals with Agenesis of the Corpus Callosum Type de document : texte imprimé Auteurs : Yolanda C. LAU, Auteur ; Leighton B N. HINKLEY, Auteur ; Polina BUKSHPUN, Auteur ; Zoe A. STROMINGER, Auteur ; Mari L.J. WAKAHIRO, Auteur ; Simon BARON-COHEN, Auteur ; Carrie ALLISON, Auteur ; Bonnie AUYEUNG, Auteur ; Rita J. JEREMY, Auteur ; Srikantan S. NAGARAJAN, Auteur ; Elliott H. SHERR, Auteur ; Elysa J. MARCO, Auteur Article en page(s) : p.1106-1118 Langues : Anglais (eng) Mots-clés : Agenesis of the corpus callosum  Autism spectrum disorders  Autism Spectrum Quotient  Functional connectivity  Magnetoencephalography  Superior temporal gyrus Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) have numerous etiologies, including structural brain malformations such as agenesis of the corpus callosum (AgCC). We sought to directly measure the occurrence of autism traits in a cohort of individuals with AgCC and to investigate the neural underpinnings of this association. We screened a large AgCC cohort (n = 106) with the Autism Spectrum Quotient (AQ) and found that 45 % of children, 35 % of adolescents, and 18 % of adults exceeded the predetermined autism-screening cut-off. Interestingly, performance on the AQ’s imagination domain was inversely correlated with magnetoencephalography measures of resting-state functional connectivity in the right superior temporal gyrus. Individuals with AgCC should be screened for ASD and disorders of the corpus callosum should be considered in autism diagnostic evaluations as well. En ligne : http://dx.doi.org/10.1007/s10803-012-1653-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=195 [article] Autism Traits in Individuals with Agenesis of the Corpus Callosum [texte imprimé] / Yolanda C. LAU, Auteur ; Leighton B N. HINKLEY, Auteur ; Polina BUKSHPUN, Auteur ; Zoe A. STROMINGER, Auteur ; Mari L.J. WAKAHIRO, Auteur ; Simon BARON-COHEN, Auteur ; Carrie ALLISON, Auteur ; Bonnie AUYEUNG, Auteur ; Rita J. JEREMY, Auteur ; Srikantan S. NAGARAJAN, Auteur ; Elliott H. SHERR, Auteur ; Elysa J. MARCO, Auteur . - p.1106-1118. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-5 (May 2013) . - p.1106-1118 Mots-clés : Agenesis of the corpus callosum  Autism spectrum disorders  Autism Spectrum Quotient  Functional connectivity  Magnetoencephalography  Superior temporal gyrus Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) have numerous etiologies, including structural brain malformations such as agenesis of the corpus callosum (AgCC). We sought to directly measure the occurrence of autism traits in a cohort of individuals with AgCC and to investigate the neural underpinnings of this association. We screened a large AgCC cohort (n = 106) with the Autism Spectrum Quotient (AQ) and found that 45 % of children, 35 % of adolescents, and 18 % of adults exceeded the predetermined autism-screening cut-off. Interestingly, performance on the AQ’s imagination domain was inversely correlated with magnetoencephalography measures of resting-state functional connectivity in the right superior temporal gyrus. Individuals with AgCC should be screened for ASD and disorders of the corpus callosum should be considered in autism diagnostic evaluations as well. En ligne : http://dx.doi.org/10.1007/s10803-012-1653-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=195

Children With Autism Show Reduced Somatosensory Response: An MEG Study / Elysa J. MARCO in Autism Research, 5-5 (October 2012)  

Public ISBD [article]  inAutism Research > 5-5 (October 2012) . - p.340-351 Titre : Children With Autism Show Reduced Somatosensory Response: An MEG Study Type de document : texte imprimé Auteurs : Elysa J. MARCO, Auteur ; Kasra KHATIBI, Auteur ; Susanna S. HILL, Auteur ; Bryna SIEGEL, Auteur ; Monica S. ARROYO, Auteur ; Anne F. DOWLING, Auteur ; John M. NEUHAUS, Auteur ; Elliott H. SHERR, Auteur ; Leighton B N. HINKLEY, Auteur ; Srikantan S. NAGARAJAN, Auteur Article en page(s) : p.340-351 Langues : Anglais (eng) Mots-clés : cognitive neuroscience  event related potential  school age  low-level perception  magnetoencephalography Index. décimale : PER Périodiques Résumé : The neural underpinnings of sensory processing differences in autism remain poorly understood. This prospective magnetoencephalography (MEG) study investigates whether children with autism show atypical cortical activity in the primary somatosensory cortex (S1) in comparison with matched controls. Tactile stimuli were clearly detectable, and painless taps were applied to the distal phalanx of the second (D2) and third (D3) fingers of the right and left hands. Three tactile paradigms were administered: an oddball paradigm (standard taps to D3 at an interstimulus interval (ISI) of 0.33 and deviant taps to D2 with ISI ranging from 1.32 s to 1.64 s); a slow-rate paradigm (D2) with an ISI matching the deviant taps in the oddball paradigm; and a fast-rate paradigm (D2) with an ISI matching the standard taps in the oddball. Study subjects were boys (age 7–11 years) with and without autism disorder. Sensory behavior was quantified using the Sensory Profile questionnaire. Boys with autism exhibited smaller amplitude left hemisphere S1 response to slow and deviant stimuli during the right-hand paradigms. In post-hoc analysis, tactile behavior directly correlated with the amplitude of cortical response. Consequently, the children were re-categorized by degree of parent-report tactile sensitivity. This regrouping created a more robust distinction between the groups with amplitude diminution in the left and right hemispheres and latency prolongation in the right hemisphere in the deviant and slow-rate paradigms for the affected children. This study suggests that children with autism have early differences in somatosensory processing, which likely influence later stages of cortical activity from integration to motor response. Autism Res 2012, 5: 340–351. © 2012 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1247 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=183 [article] Children With Autism Show Reduced Somatosensory Response: An MEG Study [texte imprimé] / Elysa J. MARCO, Auteur ; Kasra KHATIBI, Auteur ; Susanna S. HILL, Auteur ; Bryna SIEGEL, Auteur ; Monica S. ARROYO, Auteur ; Anne F. DOWLING, Auteur ; John M. NEUHAUS, Auteur ; Elliott H. SHERR, Auteur ; Leighton B N. HINKLEY, Auteur ; Srikantan S. NAGARAJAN, Auteur . - p.340-351. Langues : Anglais (eng) in Autism Research > 5-5 (October 2012) . - p.340-351 Mots-clés : cognitive neuroscience  event related potential  school age  low-level perception  magnetoencephalography Index. décimale : PER Périodiques Résumé : The neural underpinnings of sensory processing differences in autism remain poorly understood. This prospective magnetoencephalography (MEG) study investigates whether children with autism show atypical cortical activity in the primary somatosensory cortex (S1) in comparison with matched controls. Tactile stimuli were clearly detectable, and painless taps were applied to the distal phalanx of the second (D2) and third (D3) fingers of the right and left hands. Three tactile paradigms were administered: an oddball paradigm (standard taps to D3 at an interstimulus interval (ISI) of 0.33 and deviant taps to D2 with ISI ranging from 1.32 s to 1.64 s); a slow-rate paradigm (D2) with an ISI matching the deviant taps in the oddball paradigm; and a fast-rate paradigm (D2) with an ISI matching the standard taps in the oddball. Study subjects were boys (age 7–11 years) with and without autism disorder. Sensory behavior was quantified using the Sensory Profile questionnaire. Boys with autism exhibited smaller amplitude left hemisphere S1 response to slow and deviant stimuli during the right-hand paradigms. In post-hoc analysis, tactile behavior directly correlated with the amplitude of cortical response. Consequently, the children were re-categorized by degree of parent-report tactile sensitivity. This regrouping created a more robust distinction between the groups with amplitude diminution in the left and right hemispheres and latency prolongation in the right hemisphere in the deviant and slow-rate paradigms for the affected children. This study suggests that children with autism have early differences in somatosensory processing, which likely influence later stages of cortical activity from integration to motor response. Autism Res 2012, 5: 340–351. © 2012 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1247 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=183

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