Abnormal auditory mismatch fields are associated with communication impairment in both verbal and minimally verbal/nonverbal children who have autism spectrum disorder / Junko MATSUZAKI in Autism Research, 12-8 (August 2019)  

Public ISBD [article]  inAutism Research > 12-8 (August 2019) . - p.1225-1235 Titre : Abnormal auditory mismatch fields are associated with communication impairment in both verbal and minimally verbal/nonverbal children who have autism spectrum disorder Type de document : texte imprimé Auteurs : Junko MATSUZAKI, Auteur ; Emily S. KUSCHNER, Auteur ; Lisa BLASKEY, Auteur ; Luke BLOY, Auteur ; Mina KIM, Auteur ; Matthew KU, Auteur ; J. Christopher EDGAR, Auteur ; David EMBICK, Auteur ; Timothy P.L. ROBERTS, Auteur Article en page(s) : p.1225-1235 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  language and communication skill  magnetoencephalography  minimally verbal/non-verbal children  vowel mismatch fields Index. décimale : PER Périodiques Résumé : Abnormal auditory discrimination neural processes, indexed by mismatch fields (MMFs) recorded by magnetoencephalography (MEG), have been reported in verbal children with ASD. Association with clinical measures indicates that delayed MMF components are associated with poorer language and communication performance. At present, little is known about neural correlates of language and communication skills in extremely language impaired (minimally-verbal/non-verbal) children who have ASD: ASD-MVNV. It is hypothesized that MMF delays observed in language-impaired but nonetheless verbal children with ASD will be exacerbated in ASD-MVNV. The present study investigated this hypothesis, examining MMF responses bilaterally during an auditory oddball paradigm with vowel stimuli in ASD-MVNV, in a verbal ASD cohort without cognitive impairment and in typically developing (TD) children. The verbal ASD cohort without cognitive impairment was split into those demonstrating considerable language impairment (CELF core language index <85; "ASD-LI") versus those with less or no language impairment (CELF CLI >85; "ASD-V"). Eighty-four participants (8-12 years) were included in final analysis: ASD-MVNV: n = 9, 9.67 +/- 1.41 years, ASD: n = 48, (ASD-V: n = 27, 10.55 +/- 1.21 years, ASD-LI: n = 21, 10.67 +/- 1.20 years) and TD: n = 27, 10.14 +/- 1.38 years. Delayed MMF latencies were found bilaterally in ASD-MVNV compared to verbal ASD (both ASD-V and ASD-LI) and TD children. Delayed MMF responses were associated with diminished language and communication skills. Furthermore, whereas the TD children showed leftward lateralization of MMF amplitude, ASD-MVNV and verbal ASD (ASD-V and ASD-LI) showed abnormal rightward lateralization. Findings suggest delayed auditory discrimination processes and abnormal rightward laterality as objective markers of language/communication skills in both verbal and MVNV children who have ASD. Autism Res 2019, 12: 1225-1235. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Brain imaging showed abnormal auditory discrimination processes in minimally-verbal/non-verbal children (MVNV) who have autism spectrum disorder (ASD). Delays in auditory discrimination were associated with impaired language and communication skills. Findings suggest these auditory neural measures may be objective markers of language and communication skills in both verbal and, previously-understudied, MVNV children who have ASD. En ligne : http://dx.doi.org/10.1002/aur.2136 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405 [article] Abnormal auditory mismatch fields are associated with communication impairment in both verbal and minimally verbal/nonverbal children who have autism spectrum disorder [texte imprimé] / Junko MATSUZAKI, Auteur ; Emily S. KUSCHNER, Auteur ; Lisa BLASKEY, Auteur ; Luke BLOY, Auteur ; Mina KIM, Auteur ; Matthew KU, Auteur ; J. Christopher EDGAR, Auteur ; David EMBICK, Auteur ; Timothy P.L. ROBERTS, Auteur . - p.1225-1235. Langues : Anglais (eng) in Autism Research > 12-8 (August 2019) . - p.1225-1235 Mots-clés : autism spectrum disorder  language and communication skill  magnetoencephalography  minimally verbal/non-verbal children  vowel mismatch fields Index. décimale : PER Périodiques Résumé : Abnormal auditory discrimination neural processes, indexed by mismatch fields (MMFs) recorded by magnetoencephalography (MEG), have been reported in verbal children with ASD. Association with clinical measures indicates that delayed MMF components are associated with poorer language and communication performance. At present, little is known about neural correlates of language and communication skills in extremely language impaired (minimally-verbal/non-verbal) children who have ASD: ASD-MVNV. It is hypothesized that MMF delays observed in language-impaired but nonetheless verbal children with ASD will be exacerbated in ASD-MVNV. The present study investigated this hypothesis, examining MMF responses bilaterally during an auditory oddball paradigm with vowel stimuli in ASD-MVNV, in a verbal ASD cohort without cognitive impairment and in typically developing (TD) children. The verbal ASD cohort without cognitive impairment was split into those demonstrating considerable language impairment (CELF core language index <85; "ASD-LI") versus those with less or no language impairment (CELF CLI >85; "ASD-V"). Eighty-four participants (8-12 years) were included in final analysis: ASD-MVNV: n = 9, 9.67 +/- 1.41 years, ASD: n = 48, (ASD-V: n = 27, 10.55 +/- 1.21 years, ASD-LI: n = 21, 10.67 +/- 1.20 years) and TD: n = 27, 10.14 +/- 1.38 years. Delayed MMF latencies were found bilaterally in ASD-MVNV compared to verbal ASD (both ASD-V and ASD-LI) and TD children. Delayed MMF responses were associated with diminished language and communication skills. Furthermore, whereas the TD children showed leftward lateralization of MMF amplitude, ASD-MVNV and verbal ASD (ASD-V and ASD-LI) showed abnormal rightward lateralization. Findings suggest delayed auditory discrimination processes and abnormal rightward laterality as objective markers of language/communication skills in both verbal and MVNV children who have ASD. Autism Res 2019, 12: 1225-1235. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Brain imaging showed abnormal auditory discrimination processes in minimally-verbal/non-verbal children (MVNV) who have autism spectrum disorder (ASD). Delays in auditory discrimination were associated with impaired language and communication skills. Findings suggest these auditory neural measures may be objective markers of language and communication skills in both verbal and, previously-understudied, MVNV children who have ASD. En ligne : http://dx.doi.org/10.1002/aur.2136 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405

Auditory encoding abnormalities in children with autism spectrum disorder suggest delayed development of auditory cortex / J. Christopher EDGAR in Molecular Autism, (December 2015)  

Public ISBD [article]  inMolecular Autism > (December 2015) . - p.1-14 Titre : Auditory encoding abnormalities in children with autism spectrum disorder suggest delayed development of auditory cortex Type de document : texte imprimé Auteurs : J. Christopher EDGAR, Auteur ; Charles L. IV FISK, Auteur ; Jeffrey I. BERMAN, Auteur ; Darina CHUDNOVSKAYA, Auteur ; Song LIU, Auteur ; Juhi PANDEY, Auteur ; John D. HERRINGTON, Auteur ; Russell G. PORT, Auteur ; Robert T. SCHULTZ, Auteur ; Timothy P.L. ROBERTS, Auteur Article en page(s) : p.1-14 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Findings of auditory abnormalities in children with autism spectrum disorder (ASD) include delayed superior temporal gyrus auditory responses, pre- and post-stimulus superior temporal gyrus (STG) auditory oscillatory abnormalities, and atypical hemispheric lateralization. These abnormalities are likely associated with abnormal brain maturation. To better understand changes in brain activity as a function of age, the present study investigated associations between age and STG auditory time-domain and time-frequency neural activity. En ligne : http://dx.doi.org/10.1186/s13229-015-0065-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Auditory encoding abnormalities in children with autism spectrum disorder suggest delayed development of auditory cortex [texte imprimé] / J. Christopher EDGAR, Auteur ; Charles L. IV FISK, Auteur ; Jeffrey I. BERMAN, Auteur ; Darina CHUDNOVSKAYA, Auteur ; Song LIU, Auteur ; Juhi PANDEY, Auteur ; John D. HERRINGTON, Auteur ; Russell G. PORT, Auteur ; Robert T. SCHULTZ, Auteur ; Timothy P.L. ROBERTS, Auteur . - p.1-14. Langues : Anglais (eng) in Molecular Autism > (December 2015) . - p.1-14 Index. décimale : PER Périodiques Résumé : Findings of auditory abnormalities in children with autism spectrum disorder (ASD) include delayed superior temporal gyrus auditory responses, pre- and post-stimulus superior temporal gyrus (STG) auditory oscillatory abnormalities, and atypical hemispheric lateralization. These abnormalities are likely associated with abnormal brain maturation. To better understand changes in brain activity as a function of age, the present study investigated associations between age and STG auditory time-domain and time-frequency neural activity. En ligne : http://dx.doi.org/10.1186/s13229-015-0065-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

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

Biomarkers for autism spectrum disorder: opportunities for magnetoencephalography (MEG) / Timothy P.L. ROBERTS in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Biomarkers for autism spectrum disorder: opportunities for magnetoencephalography (MEG) Type de document : texte imprimé Auteurs : Timothy P.L. ROBERTS, Auteur ; Emily S. KUSCHNER, Auteur ; J. Christopher EDGAR, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis  Biomarkers  Brain/diagnostic imaging  Child  Evoked Potentials, Auditory  Humans  Magnetoencephalography Index. décimale : PER Périodiques Résumé : This paper reviews a candidate biomarker for ASD, the M50 auditory evoked response component, detected by magnetoencephalography (MEG) and presents a position on the roles and opportunities for such a biomarker, as well as converging evidence from allied imaging techniques (magnetic resonance imaging, MRI and spectroscopy, MRS). Data is presented on prolonged M50 latencies in ASD as well as extension to include children with ASD with significant language and cognitive impairments in whom M50 latency delays are exacerbated. Modeling of the M50 latency by consideration of the properties of auditory pathway white matter is shown to be successful in typical development but challenged by heterogeneity in ASD; this, however, is capitalized upon to identify a distinct subpopulation of children with ASD whose M50 latencies lie well outside the range of values predictable from the typically developing model. Interestingly, this subpopulation is characterized by low levels of the inhibitory neurotransmitter GABA. Following from this, we discuss a potential use of the M50 latency in indicating "target engagement" acutely with administration of a GABA-B agonist, potentially distinguishing "responders" from "non-responders" with the implication of optimizing inclusion for clinical trials of such agents. Implications for future application, including potential evaluation of infants with genetic risk factors, are discussed. As such, the broad scope of potential of a representative candidate biological marker, the M50 latency, is introduced along with potential future applications.This paper outlines a strategy for understanding brain dysfunction in individuals with intellectual and developmental disabilities (IDD). It is proposed that a multimodal approach (collection of brain structure, chemistry, and neuronal functional data) will identify IDD subpopulations who share a common disease pathway, and thus identify individuals with IDD who might ultimately benefit from specific treatments. After briefly demonstrating the need and potential for scope, examples from studies examining brain function and structure in children with autism spectrum disorder (ASD) illustrate how measures of brain neuronal function (from magnetoencephalography, MEG), brain structure (from magnetic resonance imaging, MRI, especially diffusion MRI), and brain chemistry (MR spectroscopy) can help us better understand the heterogeneity in ASD and form the basis of multivariate biological markers (biomarkers) useable to define clinical subpopulations. Similar approaches can be applied to understand brain dysfunction in neurodevelopmental disorders (NDD) in general. In large part, this paper represents our endeavors as part of the CHOP/Penn NICHD-funded intellectual and developmental disabilities research center (IDDRC) over the past decade. En ligne : https://dx.doi.org/10.1186/s11689-021-09385-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Biomarkers for autism spectrum disorder: opportunities for magnetoencephalography (MEG) [texte imprimé] / Timothy P.L. ROBERTS, Auteur ; Emily S. KUSCHNER, Auteur ; J. Christopher EDGAR, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/diagnosis  Biomarkers  Brain/diagnostic imaging  Child  Evoked Potentials, Auditory  Humans  Magnetoencephalography Index. décimale : PER Périodiques Résumé : This paper reviews a candidate biomarker for ASD, the M50 auditory evoked response component, detected by magnetoencephalography (MEG) and presents a position on the roles and opportunities for such a biomarker, as well as converging evidence from allied imaging techniques (magnetic resonance imaging, MRI and spectroscopy, MRS). Data is presented on prolonged M50 latencies in ASD as well as extension to include children with ASD with significant language and cognitive impairments in whom M50 latency delays are exacerbated. Modeling of the M50 latency by consideration of the properties of auditory pathway white matter is shown to be successful in typical development but challenged by heterogeneity in ASD; this, however, is capitalized upon to identify a distinct subpopulation of children with ASD whose M50 latencies lie well outside the range of values predictable from the typically developing model. Interestingly, this subpopulation is characterized by low levels of the inhibitory neurotransmitter GABA. Following from this, we discuss a potential use of the M50 latency in indicating "target engagement" acutely with administration of a GABA-B agonist, potentially distinguishing "responders" from "non-responders" with the implication of optimizing inclusion for clinical trials of such agents. Implications for future application, including potential evaluation of infants with genetic risk factors, are discussed. As such, the broad scope of potential of a representative candidate biological marker, the M50 latency, is introduced along with potential future applications.This paper outlines a strategy for understanding brain dysfunction in individuals with intellectual and developmental disabilities (IDD). It is proposed that a multimodal approach (collection of brain structure, chemistry, and neuronal functional data) will identify IDD subpopulations who share a common disease pathway, and thus identify individuals with IDD who might ultimately benefit from specific treatments. After briefly demonstrating the need and potential for scope, examples from studies examining brain function and structure in children with autism spectrum disorder (ASD) illustrate how measures of brain neuronal function (from magnetoencephalography, MEG), brain structure (from magnetic resonance imaging, MRI, especially diffusion MRI), and brain chemistry (MR spectroscopy) can help us better understand the heterogeneity in ASD and form the basis of multivariate biological markers (biomarkers) useable to define clinical subpopulations. Similar approaches can be applied to understand brain dysfunction in neurodevelopmental disorders (NDD) in general. In large part, this paper represents our endeavors as part of the CHOP/Penn NICHD-funded intellectual and developmental disabilities research center (IDDRC) over the past decade. En ligne : https://dx.doi.org/10.1186/s11689-021-09385-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Comparison of evoked potentials across four related developmental encephalopathies / Joni N. SABY in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Comparison of evoked potentials across four related developmental encephalopathies Type de document : texte imprimé Auteurs : Joni N. SABY, Auteur ; Sarika U. PETERS, Auteur ; Timothy A. BENKE, Auteur ; Shannon M. STANDRIDGE, Auteur ; Lindsay C. SWANSON, Auteur ; David N. LIEBERMAN, Auteur ; Heather E. OLSON, Auteur ; Alexandra P. KEY, Auteur ; Alan K. PERCY, Auteur ; Jeffrey L. NEUL, Auteur ; Charles A. NELSON, Auteur ; Timothy P.L. ROBERTS, Auteur ; Eric D. MARSH, Auteur Langues : Anglais (eng) Mots-clés : Epileptic Syndromes  Rett Syndrome  X-Linked Intellectual Disability  Child  Humans  Spasms, Infantile  Evoked Potentials  Evoked Potentials, Visual Index. décimale : PER Périodiques Résumé : BACKGROUND: Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking. We have previously demonstrated the feasibility and tracking of evoked potentials to disease severity in Rett syndrome and CDKL5 deficiency disorder. The aim of the current study is to characterize evoked potentials in two related developmental encephalopathies, MECP2 duplication syndrome and FOXG1 syndrome, and compare across all four groups to better understand the potential of these measures to serve as biomarkers of clinical severity for the developmental encephalopathies. METHODS: Visual and auditory evoked potentials were acquired from participants with MECP2 duplication syndrome and FOXG1 syndrome across five sites of the Rett Syndrome and Rett-Related Disorders Natural History Study. A group of age-matched individuals (mean = 7.8 years; range = 1-17) with Rett syndrome, CDKL5 deficiency disorder, and typically-developing participants served as a comparison group. The analysis focused on group-level differences as well as associations between the evoked potentials and measures of clinical severity from the Natural History Study. RESULTS: As reported previously, group-level comparisons revealed attenuated visual evoked potentials (VEPs) in participants with Rett syndrome (n = 43) and CDKL5 deficiency disorder (n = 16) compared to typically-developing participants. VEP amplitude was also attenuated in participants with MECP2 duplication syndrome (n = 15) compared to the typically-developing group. VEP amplitude correlated with clinical severity for Rett syndrome and FOXG1 syndrome (n = 5). Auditory evoked potential (AEP) amplitude did not differ between groups, but AEP latency was prolonged in individuals with MECP2 duplication syndrome (n = 14) and FOXG1 syndrome (n = 6) compared to individuals with Rett syndrome (n = 51) and CDKL5 deficiency disorder (n = 14). AEP amplitude correlated with severity in Rett syndrome and CDKL5 deficiency disorder. AEP latency correlated with severity in CDKL5 deficiency disorder, MECP2 duplication syndrome, and FOXG1 syndrome. CONCLUSIONS: There are consistent abnormalities in the evoked potentials in four developmental encephalopathies some of which correlate with clinical severity. While there are consistent changes amongst these four disorders, there are also condition specific findings that need to be further refined and validated. Overall, these results provide a foundation for further refinement of these measures for use in future clinical trials for these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09479-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Comparison of evoked potentials across four related developmental encephalopathies [texte imprimé] / Joni N. SABY, Auteur ; Sarika U. PETERS, Auteur ; Timothy A. BENKE, Auteur ; Shannon M. STANDRIDGE, Auteur ; Lindsay C. SWANSON, Auteur ; David N. LIEBERMAN, Auteur ; Heather E. OLSON, Auteur ; Alexandra P. KEY, Auteur ; Alan K. PERCY, Auteur ; Jeffrey L. NEUL, Auteur ; Charles A. NELSON, Auteur ; Timothy P.L. ROBERTS, Auteur ; Eric D. MARSH, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Epileptic Syndromes  Rett Syndrome  X-Linked Intellectual Disability  Child  Humans  Spasms, Infantile  Evoked Potentials  Evoked Potentials, Visual Index. décimale : PER Périodiques Résumé : BACKGROUND: Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking. We have previously demonstrated the feasibility and tracking of evoked potentials to disease severity in Rett syndrome and CDKL5 deficiency disorder. The aim of the current study is to characterize evoked potentials in two related developmental encephalopathies, MECP2 duplication syndrome and FOXG1 syndrome, and compare across all four groups to better understand the potential of these measures to serve as biomarkers of clinical severity for the developmental encephalopathies. METHODS: Visual and auditory evoked potentials were acquired from participants with MECP2 duplication syndrome and FOXG1 syndrome across five sites of the Rett Syndrome and Rett-Related Disorders Natural History Study. A group of age-matched individuals (mean = 7.8 years; range = 1-17) with Rett syndrome, CDKL5 deficiency disorder, and typically-developing participants served as a comparison group. The analysis focused on group-level differences as well as associations between the evoked potentials and measures of clinical severity from the Natural History Study. RESULTS: As reported previously, group-level comparisons revealed attenuated visual evoked potentials (VEPs) in participants with Rett syndrome (n = 43) and CDKL5 deficiency disorder (n = 16) compared to typically-developing participants. VEP amplitude was also attenuated in participants with MECP2 duplication syndrome (n = 15) compared to the typically-developing group. VEP amplitude correlated with clinical severity for Rett syndrome and FOXG1 syndrome (n = 5). Auditory evoked potential (AEP) amplitude did not differ between groups, but AEP latency was prolonged in individuals with MECP2 duplication syndrome (n = 14) and FOXG1 syndrome (n = 6) compared to individuals with Rett syndrome (n = 51) and CDKL5 deficiency disorder (n = 14). AEP amplitude correlated with severity in Rett syndrome and CDKL5 deficiency disorder. AEP latency correlated with severity in CDKL5 deficiency disorder, MECP2 duplication syndrome, and FOXG1 syndrome. CONCLUSIONS: There are consistent abnormalities in the evoked potentials in four developmental encephalopathies some of which correlate with clinical severity. While there are consistent changes amongst these four disorders, there are also condition specific findings that need to be further refined and validated. Overall, these results provide a foundation for further refinement of these measures for use in future clinical trials for these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09479-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Delayed M50/M100 evoked response component latency in minimally verbal/nonverbal children who have autism spectrum disorder / Timothy P.L. ROBERTS in Molecular Autism, 10 (2019)  

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Differential Maturation of Auditory Cortex Activity in Young Children with Autism and Typical Development / Heather L. GREEN in Journal of Autism and Developmental Disorders, 53-10 (October 2023)  

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DTI and Tractography in the Autistic Brain / Timothy P.L. ROBERTS

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Exploring the relationship between cortical GABA concentrations, auditory gamma-band responses and development in ASD: Evidence for an altered maturational trajectory in ASD / Russell G. PORT in Autism Research, 10-4 (April 2017)  

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GABA and glutamate measurements in temporal cortex of autistic children / Muhammad G. SALEH in Autism Research, 17-12 (December 2024)  

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Joint Analysis of Band-Specific Functional Connectivity and Signal Complexity in Autism / Yasser GHANBARI in Journal of Autism and Developmental Disorders, 45-2 (February 2015)  

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Knockout of NMDA Receptors in Parvalbumin Interneurons Recreates Autism-Like Phenotypes / John A. SAUNDERS in Autism Research, 6-2 (April 2013)  

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MEG detection of delayed auditory evoked responses in autism spectrum disorders: towards an imaging biomarker for autism / Timothy P.L. ROBERTS in Autism Research, 3-1 (February 2010)  

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MEG-PLAN: a clinical and technical protocol for obtaining magnetoencephalography data in minimally verbal or nonverbal children who have autism spectrum disorder / Emily S. KUSCHNER in Journal of Neurodevelopmental Disorders, 13 (2021)  

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A Multimodal Study of the Contributions of Conduction Velocity to the Auditory Evoked Neuromagnetic Response: Anomalies in Autism Spectrum Disorder / Timothy P.L. ROBERTS in Autism Research, 13-10 (October 2020)  

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