Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome / Joel FROHLICH in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 37 p. Titre : Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome Type de document : texte imprimé Auteurs : Joel FROHLICH, Auteur ; Lawrence T. REITER, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Charlotte DISTEFANO, Auteur ; Scott HUBERTY, Auteur ; Carly HYDE, Auteur ; Stormy J. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; Peyman GOLSHANI, Auteur ; Andrei IRIMIA, Auteur ; Richard W. OLSEN, Auteur ; Joerg F. HIPP, Auteur ; Shafali S. JESTE, Auteur Article en page(s) : 37 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s13229-019-0280-6.]. En ligne : http://dx.doi.org/10.1186/s13229-019-0288-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Correction to: Mechanisms underlying the EEG biomarker in Dup15q syndrome [texte imprimé] / Joel FROHLICH, Auteur ; Lawrence T. REITER, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Charlotte DISTEFANO, Auteur ; Scott HUBERTY, Auteur ; Carly HYDE, Auteur ; Stormy J. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; Peyman GOLSHANI, Auteur ; Andrei IRIMIA, Auteur ; Richard W. OLSEN, Auteur ; Joerg F. HIPP, Auteur ; Shafali S. JESTE, Auteur . - 37 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 37 p. Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s13229-019-0280-6.]. En ligne : http://dx.doi.org/10.1186/s13229-019-0288-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

Imaging brain connectivity in autism spectrum disorder / Robert COBEN

Public ISBD in Autism imaging and Devices / Manuel F. CASANOVA Titre : Imaging brain connectivity in autism spectrum disorder Type de document : texte imprimé Auteurs : Robert COBEN, Auteur ; Iman MOHAMMAD-REZAZADEH, Auteur ; Joel FROHLICH, Auteur ; Joseph JURGIEL, Auteur ; Giorgia MICHELINI, Auteur Importance : p.245-285 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=382 in Autism imaging and Devices / Manuel F. CASANOVA Imaging brain connectivity in autism spectrum disorder [texte imprimé] / Robert COBEN, Auteur ; Iman MOHAMMAD-REZAZADEH, Auteur ; Joel FROHLICH, Auteur ; Joseph JURGIEL, Auteur ; Giorgia MICHELINI, Auteur . - [s.d.] . - p.245-285. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=382

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Mechanisms underlying the EEG biomarker in Dup15q syndrome / Joel FROHLICH in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 29 p. Titre : Mechanisms underlying the EEG biomarker in Dup15q syndrome Type de document : texte imprimé Auteurs : Joel FROHLICH, Auteur ; Lawrence T. REITER, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Charlotte DISTEFANO, Auteur ; Scott HUBERTY, Auteur ; Carly HYDE, Auteur ; Stormy J. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; Peyman GOLSHANI, Auteur ; Andrei IRIMIA, Auteur ; Richard W. OLSEN, Auteur ; Joerg F. HIPP, Auteur ; Shafali S. JESTE, Auteur Article en page(s) : 29 p. Langues : Anglais (eng) Mots-clés : Autism  Biomarkers  Dup15q syndrome  Eeg  Gaba  Gabra5  Gabrb3  Gabrg3  Neurodevelopmental disorders  UBE3A Index. décimale : PER Périodiques Résumé : Background: Duplications of 15q11.2-q13.1 (Dup15q syndrome), including the paternally imprinted gene UBE3A and three nonimprinted gamma-aminobutyric acid type-A (GABAA) receptor genes, are highly penetrant for neurodevelopmental disorders such as autism spectrum disorder (ASD). To guide targeted treatments of Dup15q syndrome and other forms of ASD, biomarkers are needed that reflect molecular mechanisms of pathology. We recently described a beta EEG phenotype of Dup15q syndrome, but it remains unknown which specific genes drive this phenotype. Methods: To test the hypothesis that UBE3A overexpression is not necessary for the beta EEG phenotype, we compared EEG from a reference cohort of children with Dup15q syndrome (n = 27) to (1) the pharmacological effects of the GABAA modulator midazolam (n = 12) on EEG from healthy adults, (2) EEG from typically developing (TD) children (n = 14), and (3) EEG from two children with duplications of paternal 15q (i.e., the UBE3A-silenced allele). Results: Peak beta power was significantly increased in the reference cohort relative to TD controls. Midazolam administration recapitulated the beta EEG phenotype in healthy adults with a similar peak frequency in central channels (f = 23.0 Hz) as Dup15q syndrome (f = 23.1 Hz). Both paternal Dup15q syndrome cases displayed beta power comparable to the reference cohort. Conclusions: Our results suggest a critical role for GABAergic transmission in the Dup15q syndrome beta EEG phenotype, which cannot be explained by UBE3A dysfunction alone. If this mechanism is confirmed, the phenotype may be used as a marker of GABAergic pathology in clinical trials for Dup15q syndrome. En ligne : https://dx.doi.org/10.1186/s13229-019-0280-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408 [article] Mechanisms underlying the EEG biomarker in Dup15q syndrome [texte imprimé] / Joel FROHLICH, Auteur ; Lawrence T. REITER, Auteur ; Vidya SARAVANAPANDIAN, Auteur ; Charlotte DISTEFANO, Auteur ; Scott HUBERTY, Auteur ; Carly HYDE, Auteur ; Stormy J. CHAMBERLAIN, Auteur ; Carrie E. BEARDEN, Auteur ; Peyman GOLSHANI, Auteur ; Andrei IRIMIA, Auteur ; Richard W. OLSEN, Auteur ; Joerg F. HIPP, Auteur ; Shafali S. JESTE, Auteur . - 29 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 29 p. Mots-clés : Autism  Biomarkers  Dup15q syndrome  Eeg  Gaba  Gabra5  Gabrb3  Gabrg3  Neurodevelopmental disorders  UBE3A Index. décimale : PER Périodiques Résumé : Background: Duplications of 15q11.2-q13.1 (Dup15q syndrome), including the paternally imprinted gene UBE3A and three nonimprinted gamma-aminobutyric acid type-A (GABAA) receptor genes, are highly penetrant for neurodevelopmental disorders such as autism spectrum disorder (ASD). To guide targeted treatments of Dup15q syndrome and other forms of ASD, biomarkers are needed that reflect molecular mechanisms of pathology. We recently described a beta EEG phenotype of Dup15q syndrome, but it remains unknown which specific genes drive this phenotype. Methods: To test the hypothesis that UBE3A overexpression is not necessary for the beta EEG phenotype, we compared EEG from a reference cohort of children with Dup15q syndrome (n = 27) to (1) the pharmacological effects of the GABAA modulator midazolam (n = 12) on EEG from healthy adults, (2) EEG from typically developing (TD) children (n = 14), and (3) EEG from two children with duplications of paternal 15q (i.e., the UBE3A-silenced allele). Results: Peak beta power was significantly increased in the reference cohort relative to TD controls. Midazolam administration recapitulated the beta EEG phenotype in healthy adults with a similar peak frequency in central channels (f = 23.0 Hz) as Dup15q syndrome (f = 23.1 Hz). Both paternal Dup15q syndrome cases displayed beta power comparable to the reference cohort. Conclusions: Our results suggest a critical role for GABAergic transmission in the Dup15q syndrome beta EEG phenotype, which cannot be explained by UBE3A dysfunction alone. If this mechanism is confirmed, the phenotype may be used as a marker of GABAergic pathology in clinical trials for Dup15q syndrome. En ligne : https://dx.doi.org/10.1186/s13229-019-0280-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408

Properties of beta oscillations in Dup15q syndrome / Vidya SARAVANAPANDIAN in Journal of Neurodevelopmental Disorders, 12 (2020)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 12 (2020) Titre : Properties of beta oscillations in Dup15q syndrome Type de document : texte imprimé Auteurs : Vidya SARAVANAPANDIAN, Auteur ; Joel FROHLICH, Auteur ; Joerg F. HIPP, Auteur ; Carly HYDE, Auteur ; Aaron W. SCHEFFLER, Auteur ; Peyman GOLSHANI, Auteur ; Edwin H. COOK, Auteur ; Lawrence T. REITER, Auteur ; Damla SENTURK, Auteur ; Shafali S. JESTE, Auteur Langues : Anglais (eng) Mots-clés : Child  Child, Preschool  Electroencephalography  Epilepsy  Follow-Up Studies  Humans  Infant  Intellectual Disability  Reproducibility of Results  Autism  Biomarkers  Dup15q syndrome  Eeg  Gaba  Neurodevelopmental disorders  UBE3A  of F. Hoffmann-La Roche Ltd. (October 2016–July 2017). Joerg F. Hipp is an  employee of F. Hoffmann-La Roche Ltd. Carly Hyde: no competing interests Aaron W.  Scheffler: no competing interests Peyman Golshani: no competing interests Edwin  H. Cook: no competing interests Lawrence T. Reiter: no competing interests Damla  Senturk: no competing interests Shafali Jeste serves as a consultant for and has  received funding from F. Hoffmann-La Roche Ltd. and Yamo Pharmaceuticals Index. décimale : PER Périodiques Résumé : BACKGROUND: Duplications of 15q11.2-q13.1 (Dup15q syndrome) are highly penetrant for autism, intellectual disability, hypotonia, and epilepsy. The 15q region harbors genes critical for brain development, particularly UBE3A and a cluster of gamma-aminobutyric acid type A receptor (GABA(A)R) genes. We recently described an electrophysiological biomarker of the syndrome, characterized by excessive beta oscillations (12-30 Hz), resembling electroencephalogram (EEG) changes induced by allosteric modulation of GABA(A)Rs. In this follow-up study, we tested a larger cohort of children with Dup15q syndrome to comprehensively examine properties of this EEG biomarker that would inform its use in future clinical trials, specifically, its (1) relation to basic clinical features, such as age, duplication type, and epilepsy; (2) relation to behavioral characteristics, such as cognition and adaptive function; (3) stability over time; and (4) reproducibility of the signal in clinical EEG recordings. METHODS: We computed EEG power and beta peak frequency (BPF) in a cohort of children with Dup15q syndrome (N = 41, age range 9-189 months). To relate EEG parameters to clinical (study 1) and behavioral features (study 2), we examined age, duplication type, epilepsy, cognition, and daily living skills (DLS) as predictors of beta power and BPF. To evaluate stability over time (study 3), we derived the intraclass correlation coefficients (ICC) from beta power and BPF computed from children with multiple EEG recordings (N = 10, age range 18-161 months). To evaluate reproducibility in a clinical setting (study 4), we derived ICCs from beta power computed from children (N = 8, age range 19-96 months), who had undergone both research EEG and clinical EEG. RESULTS: The most promising relationships between EEG and clinical traits were found using BPF. BPF was predicted both by epilepsy status (R(2) = 0.11, p = 0.038) and the DLS component of the Vineland Adaptive Behavior Scale (R(2) = 0.17, p = 0.01). Beta power and peak frequency showed high stability across repeated visits (beta power ICC = 0.93, BPF ICC = 0.92). A reproducibility analysis revealed that beta power estimates are comparable between research and clinical EEG (ICC = 0.94). CONCLUSIONS: In this era of precision health, with pharmacological and neuromodulatory therapies being developed and tested for specific genetic etiologies of neurodevelopmental disorders, quantification and examination of mechanistic biomarkers can greatly improve clinical trials. To this end, the robust beta oscillations evident in Dup15q syndrome are clinically reproducible and stable over time. With future preclinical and computational studies that will help disentangle the underlying mechanism, it is possible that this biomarker could serve as a robust measure of drug target engagement or a proximal outcome measure in future disease modifying intervention trials. En ligne : https://dx.doi.org/10.1186/s11689-020-09326-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Properties of beta oscillations in Dup15q syndrome [texte imprimé] / Vidya SARAVANAPANDIAN, Auteur ; Joel FROHLICH, Auteur ; Joerg F. HIPP, Auteur ; Carly HYDE, Auteur ; Aaron W. SCHEFFLER, Auteur ; Peyman GOLSHANI, Auteur ; Edwin H. COOK, Auteur ; Lawrence T. REITER, Auteur ; Damla SENTURK, Auteur ; Shafali S. JESTE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 12 (2020) Mots-clés : Child  Child, Preschool  Electroencephalography  Epilepsy  Follow-Up Studies  Humans  Infant  Intellectual Disability  Reproducibility of Results  Autism  Biomarkers  Dup15q syndrome  Eeg  Gaba  Neurodevelopmental disorders  UBE3A  of F. Hoffmann-La Roche Ltd. (October 2016–July 2017). Joerg F. Hipp is an  employee of F. Hoffmann-La Roche Ltd. Carly Hyde: no competing interests Aaron W.  Scheffler: no competing interests Peyman Golshani: no competing interests Edwin  H. Cook: no competing interests Lawrence T. Reiter: no competing interests Damla  Senturk: no competing interests Shafali Jeste serves as a consultant for and has  received funding from F. Hoffmann-La Roche Ltd. and Yamo Pharmaceuticals Index. décimale : PER Périodiques Résumé : BACKGROUND: Duplications of 15q11.2-q13.1 (Dup15q syndrome) are highly penetrant for autism, intellectual disability, hypotonia, and epilepsy. The 15q region harbors genes critical for brain development, particularly UBE3A and a cluster of gamma-aminobutyric acid type A receptor (GABA(A)R) genes. We recently described an electrophysiological biomarker of the syndrome, characterized by excessive beta oscillations (12-30 Hz), resembling electroencephalogram (EEG) changes induced by allosteric modulation of GABA(A)Rs. In this follow-up study, we tested a larger cohort of children with Dup15q syndrome to comprehensively examine properties of this EEG biomarker that would inform its use in future clinical trials, specifically, its (1) relation to basic clinical features, such as age, duplication type, and epilepsy; (2) relation to behavioral characteristics, such as cognition and adaptive function; (3) stability over time; and (4) reproducibility of the signal in clinical EEG recordings. METHODS: We computed EEG power and beta peak frequency (BPF) in a cohort of children with Dup15q syndrome (N = 41, age range 9-189 months). To relate EEG parameters to clinical (study 1) and behavioral features (study 2), we examined age, duplication type, epilepsy, cognition, and daily living skills (DLS) as predictors of beta power and BPF. To evaluate stability over time (study 3), we derived the intraclass correlation coefficients (ICC) from beta power and BPF computed from children with multiple EEG recordings (N = 10, age range 18-161 months). To evaluate reproducibility in a clinical setting (study 4), we derived ICCs from beta power computed from children (N = 8, age range 19-96 months), who had undergone both research EEG and clinical EEG. RESULTS: The most promising relationships between EEG and clinical traits were found using BPF. BPF was predicted both by epilepsy status (R(2) = 0.11, p = 0.038) and the DLS component of the Vineland Adaptive Behavior Scale (R(2) = 0.17, p = 0.01). Beta power and peak frequency showed high stability across repeated visits (beta power ICC = 0.93, BPF ICC = 0.92). A reproducibility analysis revealed that beta power estimates are comparable between research and clinical EEG (ICC = 0.94). CONCLUSIONS: In this era of precision health, with pharmacological and neuromodulatory therapies being developed and tested for specific genetic etiologies of neurodevelopmental disorders, quantification and examination of mechanistic biomarkers can greatly improve clinical trials. To this end, the robust beta oscillations evident in Dup15q syndrome are clinically reproducible and stable over time. With future preclinical and computational studies that will help disentangle the underlying mechanism, it is possible that this biomarker could serve as a robust measure of drug target engagement or a proximal outcome measure in future disease modifying intervention trials. En ligne : https://dx.doi.org/10.1186/s11689-020-09326-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

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