11 recherche sur le mot-clé 'Neurodegenerative'

Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN) / Tufikameni BRIMA in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN) Type de document : texte imprimé Auteurs : Tufikameni BRIMA, Auteur ; Edward G. FREEDMAN, Auteur ; Kevin D. PRINSLOO, Auteur ; Erika F. AUGUSTINE, Auteur ; Heather R. ADAMS, Auteur ; Kuan Hong WANG, Auteur ; Jonathan W. MINK, Auteur ; Luke H. SHAW, Auteur ; Emma P. MANTEL, Auteur ; John J. FOXE, Auteur Langues : Anglais (eng) Mots-clés : Humans  Neuronal Ceroid-Lipofuscinoses/complications  Auditory Perception  Evoked Potentials, Auditory  Memory  Brain  Membrane Glycoproteins  Molecular Chaperones  Eeg  Erp  Event-related potential  Jncl  Lysosomal storage disorder  Neurodegenerative disease  Neurodevelopmental disorder  would bias the work reported herein. Index. décimale : PER Périodiques Résumé : BACKGROUND: We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of "duration" processing. Given decrements in auditory processing abilities associated with later-stage CLN3 disease, we hypothesized that the duration-evoked mismatch negativity (MMN) of the event related potential (ERP) would be a marker of progressively atypical cortical processing in this population, with potential applicability as a brain-based biomarker in clinical trials. METHODS: We employed three stimulation rates (fast: 450 ms, medium: 900 ms, slow: 1800 ms), allowing for assessment of the sustainability of the auditory sensory memory trace. The robustness of MMN directly relates to the rate at which the regularly occurring stimulus stream is presented. As presentation rate slows, robustness of the sensory memory trace diminishes. By manipulating presentation rate, the strength of the sensory memory trace is parametrically varied, providing greater sensitivity to detect auditory cortical dysfunction. A secondary hypothesis was that duration-evoked MMN abnormalities in CLN3 disease would be more severe at slower presentation rates, resulting from greater demand on the sensory memory system. RESULTS: Data from individuals with CLN3 disease (N = 21; range 6-28 years of age) showed robust MMN responses (i.e., intact auditory sensory memory processes) at the medium stimulation rate. However, at the fastest rate, MMN was significantly reduced, and at the slowest rate, MMN was not detectable in CLN3 disease relative to neurotypical controls (N = 41; ages 6-26 years). CONCLUSIONS: Results reveal emerging insufficiencies in this critical auditory perceptual system in individuals with CLN3 disease. En ligne : https://dx.doi.org/10.1186/s11689-023-09515-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN) [texte imprimé] / Tufikameni BRIMA, Auteur ; Edward G. FREEDMAN, Auteur ; Kevin D. PRINSLOO, Auteur ; Erika F. AUGUSTINE, Auteur ; Heather R. ADAMS, Auteur ; Kuan Hong WANG, Auteur ; Jonathan W. MINK, Auteur ; Luke H. SHAW, Auteur ; Emma P. MANTEL, Auteur ; John J. FOXE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Neuronal Ceroid-Lipofuscinoses/complications  Auditory Perception  Evoked Potentials, Auditory  Memory  Brain  Membrane Glycoproteins  Molecular Chaperones  Eeg  Erp  Event-related potential  Jncl  Lysosomal storage disorder  Neurodegenerative disease  Neurodevelopmental disorder  would bias the work reported herein. Index. décimale : PER Périodiques Résumé : BACKGROUND: We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of "duration" processing. Given decrements in auditory processing abilities associated with later-stage CLN3 disease, we hypothesized that the duration-evoked mismatch negativity (MMN) of the event related potential (ERP) would be a marker of progressively atypical cortical processing in this population, with potential applicability as a brain-based biomarker in clinical trials. METHODS: We employed three stimulation rates (fast: 450 ms, medium: 900 ms, slow: 1800 ms), allowing for assessment of the sustainability of the auditory sensory memory trace. The robustness of MMN directly relates to the rate at which the regularly occurring stimulus stream is presented. As presentation rate slows, robustness of the sensory memory trace diminishes. By manipulating presentation rate, the strength of the sensory memory trace is parametrically varied, providing greater sensitivity to detect auditory cortical dysfunction. A secondary hypothesis was that duration-evoked MMN abnormalities in CLN3 disease would be more severe at slower presentation rates, resulting from greater demand on the sensory memory system. RESULTS: Data from individuals with CLN3 disease (N = 21; range 6-28 years of age) showed robust MMN responses (i.e., intact auditory sensory memory processes) at the medium stimulation rate. However, at the fastest rate, MMN was significantly reduced, and at the slowest rate, MMN was not detectable in CLN3 disease relative to neurotypical controls (N = 41; ages 6-26 years). CONCLUSIONS: Results reveal emerging insufficiencies in this critical auditory perceptual system in individuals with CLN3 disease. En ligne : https://dx.doi.org/10.1186/s11689-023-09515-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Developmental associations between cognition and adaptive behavior in intellectual and developmental disability / Andrew DAKOPOLOS in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Developmental associations between cognition and adaptive behavior in intellectual and developmental disability Type de document : texte imprimé Auteurs : Andrew DAKOPOLOS, Auteur ; Emma CONDY, Auteur ; Elizabeth SMITH, Auteur ; Danielle HARVEY, Auteur ; Aaron J. KAAT, Auteur ; Jeanine COLEMAN, Auteur ; Karen RILEY, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; David HESSL, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Child  Adolescent  Female  Adaptation, Psychological/physiology  Young Adult  Adult  Intellectual Disability  Developmental Disabilities  Cognition/physiology  Longitudinal Studies  Activities of Daily Living  Socialization  Down Syndrome/physiopathology  Fragile X Syndrome/physiopathology  Adaptive behavior  Cognition  Down syndrome  Fragile X syndrome  Intellectual and developmental disability  Latent change  NIH Toolbox  Structural equation modeling  funding from the following, all of which are directed to Rush University Medical  Center in support of rare disease programs, and she receives no personal funds  and has no relevant financial interest in any of the commercial entities listed:  Acadia, Alcobra, Anavex, Biogen, BioMarin, Cydan, Fulcrum, GeneTx, GW, Ionis,  Lumos, Marinus, Neuren, Neurotrope, Novartis, Orphazyme, Ovid, Roche, Seaside  Therapeutics, Tetra, Ultragenyx, Yamo, and Zynerba to consult on trial design and  development strategies and/or to conduct clinical studies in FXS or other NNDs or  neurodegenerative disorders  Vtesse/Sucampo/Mallinckrodt Pharmaceuticals to  conduct clinical trials in Nieman Pick  and Asuragen Inc to develop testing  standards for FMR1 testing  D. Hessl has received funding from the following, all  of which are directed to the UC Davis, in support of fragile X treatment  programs, and he receives no personal funds and has no relevant financial  interest in any of the commercial entities listed: Autifony, Ovid,  Tetra/Shionogi, Healx, and Zynerba pharmaceutical companies to consult on outcome  measures and clinical trial design. D. Hessl and EBK are members of the Clinical  Trials Committee of the National Fragile X Foundation. Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual and developmental disabilities (IDDs) are associated with both cognitive challenges and difficulties in conceptual, social, and practical areas of living, commonly referred to as adaptive behavior (DSM-5). Although cross-sectional associations between intelligence or cognition and adaptive behavior have been reported in IDD populations, no study to date has examined whether developmental changes in cognition contribute to or track with changes in adaptive behavior. The present study sought to examine associations of longitudinal developmental change in domains of cognition (NIH Toolbox Cognition Battery, NIHTB-CB) and adaptive behavior domains (Vineland Adaptive Behavior Scales-3; VABS-3) including Socialization, Communication, and Daily Living Skills (DLS) over a two year period in a large sample of children, adolescents and young adults with IDD. METHODS: Three groups were recruited, including those with fragile X syndrome, Down syndrome, and other/idiopathic intellectual disability. Eligible participants (n = 263) included those who were between 6 and 26 years (m(age) = 15.52, sd = 5.17) at Visit 1, and who had a diagnosis of, or suspected intellectual disability (ID), including borderline ID, with a mental age of at least 3.0 years. Participants were given cognitive and adaptive behavior assessments at two time points over a two year period (m = 2.45 years, range = 1.27 to 5.56 years). In order to examine the association of developmental change between cognitive and adaptive behavior domains, bivariate latent change score (BLCS) models were fit to compare change in the three cognitive domains measured by the NIHTB-CB (Fluid Cognition, Crystallized Cognition, Total Cognition) and the three adaptive behavior domains measured by the VABS-3 (Communication, DLS, and Socialization). RESULTS: Over a two year period, change in cognition (both Crystallized and Total Composites) was significantly and positively associated with change in daily living skills. Also, baseline cognition level predicted growth in adaptive behavior, however baseline adaptive behavior did not predict growth in cognition in any model. CONCLUSIONS: The present study demonstrated that developmental changes in cognition and adaptive behavior are associated in children and young adults with IDD, indicating the potential for cross-domain effects of intervention. Notably, improvements in DLS emerged as a primary area of adaptive behavior that positively related to improvements in cognition. This work provides evidence for the clinical, "real life" meaningfulness of changes in cognition detected by the NIHTB-CB in IDD, and provides empirical support for the NIHTB-CB as a fit-for-purpose performance-based outcome measure for this population. En ligne : https://dx.doi.org/10.1186/s11689-024-09542-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Developmental associations between cognition and adaptive behavior in intellectual and developmental disability [texte imprimé] / Andrew DAKOPOLOS, Auteur ; Emma CONDY, Auteur ; Elizabeth SMITH, Auteur ; Danielle HARVEY, Auteur ; Aaron J. KAAT, Auteur ; Jeanine COLEMAN, Auteur ; Karen RILEY, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; David HESSL, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Child  Adolescent  Female  Adaptation, Psychological/physiology  Young Adult  Adult  Intellectual Disability  Developmental Disabilities  Cognition/physiology  Longitudinal Studies  Activities of Daily Living  Socialization  Down Syndrome/physiopathology  Fragile X Syndrome/physiopathology  Adaptive behavior  Cognition  Down syndrome  Fragile X syndrome  Intellectual and developmental disability  Latent change  NIH Toolbox  Structural equation modeling  funding from the following, all of which are directed to Rush University Medical  Center in support of rare disease programs, and she receives no personal funds  and has no relevant financial interest in any of the commercial entities listed:  Acadia, Alcobra, Anavex, Biogen, BioMarin, Cydan, Fulcrum, GeneTx, GW, Ionis,  Lumos, Marinus, Neuren, Neurotrope, Novartis, Orphazyme, Ovid, Roche, Seaside  Therapeutics, Tetra, Ultragenyx, Yamo, and Zynerba to consult on trial design and  development strategies and/or to conduct clinical studies in FXS or other NNDs or  neurodegenerative disorders  Vtesse/Sucampo/Mallinckrodt Pharmaceuticals to  conduct clinical trials in Nieman Pick  and Asuragen Inc to develop testing  standards for FMR1 testing  D. Hessl has received funding from the following, all  of which are directed to the UC Davis, in support of fragile X treatment  programs, and he receives no personal funds and has no relevant financial  interest in any of the commercial entities listed: Autifony, Ovid,  Tetra/Shionogi, Healx, and Zynerba pharmaceutical companies to consult on outcome  measures and clinical trial design. D. Hessl and EBK are members of the Clinical  Trials Committee of the National Fragile X Foundation. Index. décimale : PER Périodiques Résumé : BACKGROUND: Intellectual and developmental disabilities (IDDs) are associated with both cognitive challenges and difficulties in conceptual, social, and practical areas of living, commonly referred to as adaptive behavior (DSM-5). Although cross-sectional associations between intelligence or cognition and adaptive behavior have been reported in IDD populations, no study to date has examined whether developmental changes in cognition contribute to or track with changes in adaptive behavior. The present study sought to examine associations of longitudinal developmental change in domains of cognition (NIH Toolbox Cognition Battery, NIHTB-CB) and adaptive behavior domains (Vineland Adaptive Behavior Scales-3; VABS-3) including Socialization, Communication, and Daily Living Skills (DLS) over a two year period in a large sample of children, adolescents and young adults with IDD. METHODS: Three groups were recruited, including those with fragile X syndrome, Down syndrome, and other/idiopathic intellectual disability. Eligible participants (n = 263) included those who were between 6 and 26 years (m(age) = 15.52, sd = 5.17) at Visit 1, and who had a diagnosis of, or suspected intellectual disability (ID), including borderline ID, with a mental age of at least 3.0 years. Participants were given cognitive and adaptive behavior assessments at two time points over a two year period (m = 2.45 years, range = 1.27 to 5.56 years). In order to examine the association of developmental change between cognitive and adaptive behavior domains, bivariate latent change score (BLCS) models were fit to compare change in the three cognitive domains measured by the NIHTB-CB (Fluid Cognition, Crystallized Cognition, Total Cognition) and the three adaptive behavior domains measured by the VABS-3 (Communication, DLS, and Socialization). RESULTS: Over a two year period, change in cognition (both Crystallized and Total Composites) was significantly and positively associated with change in daily living skills. Also, baseline cognition level predicted growth in adaptive behavior, however baseline adaptive behavior did not predict growth in cognition in any model. CONCLUSIONS: The present study demonstrated that developmental changes in cognition and adaptive behavior are associated in children and young adults with IDD, indicating the potential for cross-domain effects of intervention. Notably, improvements in DLS emerged as a primary area of adaptive behavior that positively related to improvements in cognition. This work provides evidence for the clinical, "real life" meaningfulness of changes in cognition detected by the NIHTB-CB in IDD, and provides empirical support for the NIHTB-CB as a fit-for-purpose performance-based outcome measure for this population. En ligne : https://dx.doi.org/10.1186/s11689-024-09542-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS) / Jorrit TJEERTES in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS) Type de document : texte imprimé Auteurs : Jorrit TJEERTES, Auteur ; Carlos A. BACINO, Auteur ; Terry Jo BICHELL, Auteur ; Lynne M. BIRD, Auteur ; Mariana BUSTAMANTE, Auteur ; Rebecca CREAN, Auteur ; Shafali JESTE, Auteur ; Robert W. KOMOROWSKI, Auteur ; Michelle L. KRISHNAN, Auteur ; Meghan T. MILLER, Auteur ; David NOBBS, Auteur ; Cesar OCHOA-LUBINOFF, Auteur ; Kimberly A. PARKERSON, Auteur ; Alexander ROTENBERG, Auteur ; Anjali SADHWANI, Auteur ; Mark D. SHEN, Auteur ; Lisa SQUASSANTE, Auteur ; Wen-Hann TAN, Auteur ; Brenda VINCENZI, Auteur ; Anne C. WHEELER, Auteur ; Joerg F. HIPP, Auteur ; Elizabeth BERRY-KRAVIS, Auteur Langues : Anglais (eng) Mots-clés : Humans  Angelman Syndrome/complications  Prospective Studies  Pandemics  covid-19  Electroencephalography  Angelman syndrome  Clinical outcome assessments  Clinical trials  Digital health technology  Eeg  Endpoint development  Natural history  Sleep  UBE3A  for clinical trials in Angelman syndrome sponsored by F. Hoffmann-La Roche Ltd.  and Ionis Pharmaceuticals Inc. He is also the Principal Investigator for research  trials in achondroplasia sponsored by BioMarin, Pfizer Pharmaceuticals, and  Ascendis Pharmaceuticals. He is a co-investigator in the Undiagnosed Research  Network grant sponsored by the NIH. He is a consultant for Best Doctors Inc. TJB  has been a paid consultant for F. Hoffmann-La Roche Ltd. LMB has been a paid  consultant for F. Hoffmann-La Roche Ltd. and Ionis Pharmaceuticals Inc. regarding  clinical trial design and is/has been a principal investigator on trials  sponsored by F. Hoffmann-La Roche Ltd., Ionis Pharmaceuticals Inc., Biogen, and  Ovid Therapeutics. MB is an employee of F. Hoffmann-La Roche Ltd. RC is an  employee of Ionis Pharmaceuticals Inc. SJ serves as a consultant for Roche  Pharmaceuticals. RWK was an employee of Biogen and is an employee of Ionis  Pharmaceuticals Inc. MLK was an employee of F. Hoffmann-La Roche Ltd. COL was a  principal investigator or co-investigator for clinical trials in Angelman  syndrome sponsored by Ovid, F. Hoffmann-La Roche Ltd., GeneTx, Biogen, and Ionis  Pharmaceuticals Inc. All funds from clinical trials were paid to Rush University  Medical Center and COL did not keep any personal funds. MTM was an employee of F.  Hoffmann-La Roche Ltd. DN is an employee of F. Hoffmann-La Roche Ltd. KP was an  employee of Biogen. AR has been a paid consultant and has received research  support from F. Hoffmann-La Roche Ltd. He has also received recent research  support from BioMarin, CRE Medical, Encoded, LouLou Foundation, Neuroelectrics,  SSADH Foundation, and Takeda. He is co-founder and has equity in PrevEp Inc. and  Galibra Inc. ACW has been a paid consultant for F. Hoffmann-La Roche Ltd. AS has  been a paid consultant for F. Hoffmann-La Roche Ltd. MDS was Principal  Investigator or co-investigator for clinical trials in Angelman syndrome  sponsored by F. Hoffmann-La Roche Ltd., Biogen, and Ionis Pharmaceuticals Inc.  and served as a consultant for Ionis Pharmaceuticals Inc. during the design of  the trial before study startup. All funds were paid to the University of North  Carolina, and MDS did not receive any personal funds. LS is an employee of F.  Hoffmann-La Roche Ltd. WHT was a paid consultant for F. Hoffmann-La Roche Ltd. BV  is an employee of F. Hoffmann-La Roche Ltd. AW was a paid consultant for F.  Hoffmann-La Roche Ltd. And Ovid. JFH is an employee of F. Hoffmann-La Roche Ltd.  EBK has received funding from Acadia, Alcobra, AMO, Asuragen, Avexis, Biogen,  BioMarin, Cydan, Erydel Fulcrum, GeneTx, GW, Ionis Pharmaceuticals Inc., Jaguar,  Lumos, Marinus, Neuren, Neurogene, Neurotrope, Novartis, Orphazyme, Ovid,  Retrophin, Roche, Seaside Therapeutics, Taysha, Tetra, Ultragenyx, Yamo, Zynerba,  and Vtesse/Sucampo/Mallinckrodt Pharmaceuticals, to consult on trial design or  run clinical or lab validation trials in genetic neurodevelopmental or  neurodegenerative disorders, all of which is directed to RUMC in support of rare  disease programs  EBK receives no personal funds and RUMC has no relevant  financial interest in any of the commercial entities listed. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data could help identify appropriate endpoints assessing meaningful improvements in clinical trials. Herein are reported the results from the FREESIAS study assessing the feasibility and utility of in-clinic and at-home measures of key AS symptoms. METHODS: Fifty-five individuals with AS (aged < 5 years: n = 16, 5-12 years: n = 27, ≥ 18 years: n = 12; deletion genotype: n = 40, nondeletion genotype: n = 15) and 20 typically developing children (aged 1-12 years) were enrolled across six USA sites. Several clinical outcome assessments and digital health technologies were tested, together with overnight 19-lead electroencephalography (EEG) and additional polysomnography (PSG) sensors. Participants were assessed at baseline (Clinic Visit 1), 12 months later (Clinic Visit 2), and during intermittent home visits. RESULTS: The participants achieved high completion rates for the clinical outcome assessments (adherence: 89-100% [Clinic Visit 1]; 76-91% [Clinic Visit 2]) and varied feasibility of and adherence to digital health technologies. The coronavirus disease 2019 (COVID-19) pandemic impacted participants' uptake of and/or adherence to some measures. It also potentially impacted the at-home PSG/EEG recordings, which were otherwise feasible. Participants achieved Bayley-III results comparable to the available natural history data, showing similar scores between individuals aged ≥ 18 and 5-12 years. Also, participants without a deletion generally scored higher on most clinical outcome assessments than participants with a deletion. Furthermore, the observed AS EEG phenotype of excess delta-band power was consistent with prior reports. CONCLUSIONS: Although feasible clinical outcome assessments and digital health technologies are reported herein, further improved assessments of meaningful AS change are needed. Despite the COVID-19 pandemic, remote assessments facilitated high adherence levels and the results suggested that at-home PSG/EEG might be a feasible alternative to the in-clinic EEG assessments. Taken altogether, the combination of in-clinic/at-home clinical outcome assessments, digital health technologies, and PSG/EEG may improve protocol adherence, reduce patient burden, and optimize study outcomes in AS and other rare disease populations. En ligne : https://dx.doi.org/10.1186/s11689-023-09494-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS) [texte imprimé] / Jorrit TJEERTES, Auteur ; Carlos A. BACINO, Auteur ; Terry Jo BICHELL, Auteur ; Lynne M. BIRD, Auteur ; Mariana BUSTAMANTE, Auteur ; Rebecca CREAN, Auteur ; Shafali JESTE, Auteur ; Robert W. KOMOROWSKI, Auteur ; Michelle L. KRISHNAN, Auteur ; Meghan T. MILLER, Auteur ; David NOBBS, Auteur ; Cesar OCHOA-LUBINOFF, Auteur ; Kimberly A. PARKERSON, Auteur ; Alexander ROTENBERG, Auteur ; Anjali SADHWANI, Auteur ; Mark D. SHEN, Auteur ; Lisa SQUASSANTE, Auteur ; Wen-Hann TAN, Auteur ; Brenda VINCENZI, Auteur ; Anne C. WHEELER, Auteur ; Joerg F. HIPP, Auteur ; Elizabeth BERRY-KRAVIS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Angelman Syndrome/complications  Prospective Studies  Pandemics  covid-19  Electroencephalography  Angelman syndrome  Clinical outcome assessments  Clinical trials  Digital health technology  Eeg  Endpoint development  Natural history  Sleep  UBE3A  for clinical trials in Angelman syndrome sponsored by F. Hoffmann-La Roche Ltd.  and Ionis Pharmaceuticals Inc. He is also the Principal Investigator for research  trials in achondroplasia sponsored by BioMarin, Pfizer Pharmaceuticals, and  Ascendis Pharmaceuticals. He is a co-investigator in the Undiagnosed Research  Network grant sponsored by the NIH. He is a consultant for Best Doctors Inc. TJB  has been a paid consultant for F. Hoffmann-La Roche Ltd. LMB has been a paid  consultant for F. Hoffmann-La Roche Ltd. and Ionis Pharmaceuticals Inc. regarding  clinical trial design and is/has been a principal investigator on trials  sponsored by F. Hoffmann-La Roche Ltd., Ionis Pharmaceuticals Inc., Biogen, and  Ovid Therapeutics. MB is an employee of F. Hoffmann-La Roche Ltd. RC is an  employee of Ionis Pharmaceuticals Inc. SJ serves as a consultant for Roche  Pharmaceuticals. RWK was an employee of Biogen and is an employee of Ionis  Pharmaceuticals Inc. MLK was an employee of F. Hoffmann-La Roche Ltd. COL was a  principal investigator or co-investigator for clinical trials in Angelman  syndrome sponsored by Ovid, F. Hoffmann-La Roche Ltd., GeneTx, Biogen, and Ionis  Pharmaceuticals Inc. All funds from clinical trials were paid to Rush University  Medical Center and COL did not keep any personal funds. MTM was an employee of F.  Hoffmann-La Roche Ltd. DN is an employee of F. Hoffmann-La Roche Ltd. KP was an  employee of Biogen. AR has been a paid consultant and has received research  support from F. Hoffmann-La Roche Ltd. He has also received recent research  support from BioMarin, CRE Medical, Encoded, LouLou Foundation, Neuroelectrics,  SSADH Foundation, and Takeda. He is co-founder and has equity in PrevEp Inc. and  Galibra Inc. ACW has been a paid consultant for F. Hoffmann-La Roche Ltd. AS has  been a paid consultant for F. Hoffmann-La Roche Ltd. MDS was Principal  Investigator or co-investigator for clinical trials in Angelman syndrome  sponsored by F. Hoffmann-La Roche Ltd., Biogen, and Ionis Pharmaceuticals Inc.  and served as a consultant for Ionis Pharmaceuticals Inc. during the design of  the trial before study startup. All funds were paid to the University of North  Carolina, and MDS did not receive any personal funds. LS is an employee of F.  Hoffmann-La Roche Ltd. WHT was a paid consultant for F. Hoffmann-La Roche Ltd. BV  is an employee of F. Hoffmann-La Roche Ltd. AW was a paid consultant for F.  Hoffmann-La Roche Ltd. And Ovid. JFH is an employee of F. Hoffmann-La Roche Ltd.  EBK has received funding from Acadia, Alcobra, AMO, Asuragen, Avexis, Biogen,  BioMarin, Cydan, Erydel Fulcrum, GeneTx, GW, Ionis Pharmaceuticals Inc., Jaguar,  Lumos, Marinus, Neuren, Neurogene, Neurotrope, Novartis, Orphazyme, Ovid,  Retrophin, Roche, Seaside Therapeutics, Taysha, Tetra, Ultragenyx, Yamo, Zynerba,  and Vtesse/Sucampo/Mallinckrodt Pharmaceuticals, to consult on trial design or  run clinical or lab validation trials in genetic neurodevelopmental or  neurodegenerative disorders, all of which is directed to RUMC in support of rare  disease programs  EBK receives no personal funds and RUMC has no relevant  financial interest in any of the commercial entities listed. Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data could help identify appropriate endpoints assessing meaningful improvements in clinical trials. Herein are reported the results from the FREESIAS study assessing the feasibility and utility of in-clinic and at-home measures of key AS symptoms. METHODS: Fifty-five individuals with AS (aged < 5 years: n = 16, 5-12 years: n = 27, ≥ 18 years: n = 12; deletion genotype: n = 40, nondeletion genotype: n = 15) and 20 typically developing children (aged 1-12 years) were enrolled across six USA sites. Several clinical outcome assessments and digital health technologies were tested, together with overnight 19-lead electroencephalography (EEG) and additional polysomnography (PSG) sensors. Participants were assessed at baseline (Clinic Visit 1), 12 months later (Clinic Visit 2), and during intermittent home visits. RESULTS: The participants achieved high completion rates for the clinical outcome assessments (adherence: 89-100% [Clinic Visit 1]; 76-91% [Clinic Visit 2]) and varied feasibility of and adherence to digital health technologies. The coronavirus disease 2019 (COVID-19) pandemic impacted participants' uptake of and/or adherence to some measures. It also potentially impacted the at-home PSG/EEG recordings, which were otherwise feasible. Participants achieved Bayley-III results comparable to the available natural history data, showing similar scores between individuals aged ≥ 18 and 5-12 years. Also, participants without a deletion generally scored higher on most clinical outcome assessments than participants with a deletion. Furthermore, the observed AS EEG phenotype of excess delta-band power was consistent with prior reports. CONCLUSIONS: Although feasible clinical outcome assessments and digital health technologies are reported herein, further improved assessments of meaningful AS change are needed. Despite the COVID-19 pandemic, remote assessments facilitated high adherence levels and the results suggested that at-home PSG/EEG might be a feasible alternative to the in-clinic EEG assessments. Taken altogether, the combination of in-clinic/at-home clinical outcome assessments, digital health technologies, and PSG/EEG may improve protocol adherence, reduce patient burden, and optimize study outcomes in AS and other rare disease populations. En ligne : https://dx.doi.org/10.1186/s11689-023-09494-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation / Jessica KLUSEK in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation Type de document : texte imprimé Auteurs : Jessica KLUSEK, Auteur ; Amanda FAIRCHILD, Auteur ; Carly MOSER, Auteur ; Marsha R. MAILICK, Auteur ; Angela John THURMAN, Auteur ; Leonard ABBEDUTO, Auteur Langues : Anglais (eng) Mots-clés : Adult  Alleles  Ataxia/genetics  Child  Cognitive Dysfunction/complications/genetics  Female  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/complications/genetics  Humans  Language Disorders  Middle Aged  Mothers  Neurodegenerative Diseases/complications/genetics  Tremor/genetics  Aging  Fragile X premutation  Grammatical complexity  Language production  trials from F. Hoffman-LaRoche, Ltd., Roche TCRC, Inc., Neuren Pharmaceuticals  Limited, Inc, and the LuMind IDSC Foundation. AJT has received funding to develop  and implement outcome measures from Fulcrum Therapeutic. MM serves as the chair  of the Scientific Advisory Board of the John Merck Fund Developmental  Disabilities Program. The authors have no other relevant conflicts of interest to  disclose. Index. décimale : PER Périodiques Résumé : BACKGROUND: Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In other forms of pathological aging, early decline in syntactic complexity is observed and predicts the later onset of neurodegenerative disease. To shed light on the earliest signs of degeneration, the present study characterized longitudinal changes in the syntactic complexity of women with the FMR1 premutation across midlife, and associations with family history of fragile X-associated tremor/ataxia syndrome (FXTAS) and CGG repeat length. METHODS: Forty-five women with the FMR1 premutation aged 35-64 years at study entry participated in 1-5 longitudinal assessments spaced approximately a year apart (130 observations total). All participants were mothers of children with confirmed fragile X syndrome. Language samples were analyzed for syntactic complexity and participants provided information on family history of FXTAS. CGG repeat length was determined via molecular genetic testing. RESULTS: Hierarchical linear models indicated that women who reported a family history of FXTAS exhibited faster age-related decline in syntactic complexity than those without a family history, with that difference emerging as the women reached their mid-50 s. CGG repeat length was not a significant predictor of age-related change. CONCLUSIONS: Results suggest that women with the FMR1 premutation who have a family history of FXTAS may be at increased risk for neurodegenerative disease, as indicated by age-related loss of syntactic complexity. Thus, family history of FXTAS may represent a personalized risk factor for age-related disease. Follow-up study is needed to determine whether syntactic decline is an early indicator of FXTAS specifically, as opposed to being a more general age-related cognitive decline associated with the FMR1 premutation. En ligne : https://dx.doi.org/10.1186/s11689-022-09415-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation [texte imprimé] / Jessica KLUSEK, Auteur ; Amanda FAIRCHILD, Auteur ; Carly MOSER, Auteur ; Marsha R. MAILICK, Auteur ; Angela John THURMAN, Auteur ; Leonard ABBEDUTO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Adult  Alleles  Ataxia/genetics  Child  Cognitive Dysfunction/complications/genetics  Female  Fragile X Mental Retardation Protein/genetics  Fragile X Syndrome/complications/genetics  Humans  Language Disorders  Middle Aged  Mothers  Neurodegenerative Diseases/complications/genetics  Tremor/genetics  Aging  Fragile X premutation  Grammatical complexity  Language production  trials from F. Hoffman-LaRoche, Ltd., Roche TCRC, Inc., Neuren Pharmaceuticals  Limited, Inc, and the LuMind IDSC Foundation. AJT has received funding to develop  and implement outcome measures from Fulcrum Therapeutic. MM serves as the chair  of the Scientific Advisory Board of the John Merck Fund Developmental  Disabilities Program. The authors have no other relevant conflicts of interest to  disclose. Index. décimale : PER Périodiques Résumé : BACKGROUND: Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In other forms of pathological aging, early decline in syntactic complexity is observed and predicts the later onset of neurodegenerative disease. To shed light on the earliest signs of degeneration, the present study characterized longitudinal changes in the syntactic complexity of women with the FMR1 premutation across midlife, and associations with family history of fragile X-associated tremor/ataxia syndrome (FXTAS) and CGG repeat length. METHODS: Forty-five women with the FMR1 premutation aged 35-64 years at study entry participated in 1-5 longitudinal assessments spaced approximately a year apart (130 observations total). All participants were mothers of children with confirmed fragile X syndrome. Language samples were analyzed for syntactic complexity and participants provided information on family history of FXTAS. CGG repeat length was determined via molecular genetic testing. RESULTS: Hierarchical linear models indicated that women who reported a family history of FXTAS exhibited faster age-related decline in syntactic complexity than those without a family history, with that difference emerging as the women reached their mid-50 s. CGG repeat length was not a significant predictor of age-related change. CONCLUSIONS: Results suggest that women with the FMR1 premutation who have a family history of FXTAS may be at increased risk for neurodegenerative disease, as indicated by age-related loss of syntactic complexity. Thus, family history of FXTAS may represent a personalized risk factor for age-related disease. Follow-up study is needed to determine whether syntactic decline is an early indicator of FXTAS specifically, as opposed to being a more general age-related cognitive decline associated with the FMR1 premutation. En ligne : https://dx.doi.org/10.1186/s11689-022-09415-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Molecular Approaches to Hereditary Diseases of the Nervous System: Huntington's Disease as a Paradigm / N.S. WEXLER in Annual Review of Neuroscience, 14 (1991)

Public ISBD [article]  inAnnual Review of Neuroscience > 14 (1991) . - p.503-529 Titre : Molecular Approaches to Hereditary Diseases of the Nervous System: Huntington's Disease as a Paradigm Type de document : texte imprimé Auteurs : N.S. WEXLER, Auteur ; E.A. ROSE, Auteur ; D.E. HOUSMAN, Auteur Année de publication : 1991 Article en page(s) : p.503-529 Langues : Anglais (eng) Mots-clés : Neurodegenerative disorders - Molecular genetics - Disease genes - Basal ganglia Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=370 [article] Molecular Approaches to Hereditary Diseases of the Nervous System: Huntington's Disease as a Paradigm [texte imprimé] / N.S. WEXLER, Auteur ; E.A. ROSE, Auteur ; D.E. HOUSMAN, Auteur . - 1991 . - p.503-529. Langues : Anglais (eng) in Annual Review of Neuroscience > 14 (1991) . - p.503-529 Mots-clés : Neurodegenerative disorders - Molecular genetics - Disease genes - Basal ganglia Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=370

Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome / Jessica FAMULA in Journal of Neurodevelopmental Disorders, 14 (2022)  

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Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling / Angela John THURMAN in Journal of Neurodevelopmental Disorders, 13 (2021)  

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Bernadette : une fin de vie en période Covid / Blandine ROSSI-BOUCHET in Rééducation Orthophonique, 290 (Juin 2022)

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Effects of a ciliary neurotrophic factor (CNTF) small-molecule peptide mimetic in an in vitro and in vivo model of CDKL5 deficiency disorder / Nicola MOTTOLESE in Journal of Neurodevelopmental Disorders, 16 (2024)  

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Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity / Leonard ABBEDUTO in Journal of Neurodevelopmental Disorders, 12 (2020)  

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