Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome / Tess LEVY in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome Type de document : texte imprimé Auteurs : Tess LEVY, Auteur ; Jacob GLUCKMAN, Auteur ; Paige M. SIPER, Auteur ; Danielle HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; Rajna FILIP-DHIMA, Auteur ; J. Lloyd Jr HOLDER, Auteur ; M. Pilar TRELLES, Auteur ; Kristina JOHNSON, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Latha Valluripalli SOORYA, Auteur ; Audrey THURM, Auteur ; Joseph D. BUXBAUM, Auteur ; Mustafa SAHIN, Auteur ; Alexander KOLEVZON, Auteur ; Siddharth SRIVASTAVA, Auteur ; DEVELOPMENTAL SYNAPTOPATHIES CONSORTIUM, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Seizures/genetics  Chromosome Deletion  Chromosome Disorders/complications/genetics/physiopathology  Chromosomes, Human, Pair 22/genetics  Child  Child, Preschool  Adolescent  Longitudinal Studies  Young Adult  Adult  Prospective Studies  Infant  Nerve Tissue Proteins/genetics  22q13  Epilepsy  Phelan-McDermid syndrome  Shank3  Seizures Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome. METHODS: We report on results from 98 individuals enrolled in a prospective, longitudinal study. We detailed seizure frequency, type, and age of onset, and we analyzed seizure occurrence with best estimate IQ, adaptive functioning, clinical features, and genotype. We conducted multiple linear regression analyses to assess the relationship between the presence of seizures and the Vineland Adaptive Behavior Scale, Second Edition (VABS-II) Adaptive Behavior Composite score and the best estimate full-scale IQ. We also performed Chi-square tests to explore associations between seizure prevalence and genetic groupings. Finally, we performed Chi-square tests and t-tests to explore the relationship between seizures and demographic features, features that manifest in infancy, and medical features. RESULTS: Seizures were present in 41% of the cohort, and age of onset was widely variable. The presence of seizures was associated with significantly lower adaptive and intellectual functioning. Genotype-phenotype analyses were discrepant, with no differences in seizure prevalence across genetic classes, but with more genes included in deletions of participants with 22q13 deletions and seizures compared to those with 22q13 deletions and no seizures. No clinical associations were found between the presence of seizures and sex, history of pre- or neonatal complications, early infancy, or medical features. In this cohort, generalized seizures were associated with developmental regression, which is a top concern for PMS caregivers. CONCLUSIONS: These results begin to eludicate correlates of seizures in individuals with PMS and highlight the importance of early seizure management. Importantly, presence of seizures was associated with adaptive and cognitive functioning. A larger cohort might be able to identify additional associations with medical features. Genetic findings suggest an increased capability to realize genotype-phenotype relationships when deletion size is taken into account. En ligne : https://dx.doi.org/10.1186/s11689-024-09541-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome [texte imprimé] / Tess LEVY, Auteur ; Jacob GLUCKMAN, Auteur ; Paige M. SIPER, Auteur ; Danielle HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; Rajna FILIP-DHIMA, Auteur ; J. Lloyd Jr HOLDER, Auteur ; M. Pilar TRELLES, Auteur ; Kristina JOHNSON, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Latha Valluripalli SOORYA, Auteur ; Audrey THURM, Auteur ; Joseph D. BUXBAUM, Auteur ; Mustafa SAHIN, Auteur ; Alexander KOLEVZON, Auteur ; Siddharth SRIVASTAVA, Auteur ; DEVELOPMENTAL SYNAPTOPATHIES CONSORTIUM, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Female  Seizures/genetics  Chromosome Deletion  Chromosome Disorders/complications/genetics/physiopathology  Chromosomes, Human, Pair 22/genetics  Child  Child, Preschool  Adolescent  Longitudinal Studies  Young Adult  Adult  Prospective Studies  Infant  Nerve Tissue Proteins/genetics  22q13  Epilepsy  Phelan-McDermid syndrome  Shank3  Seizures Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome. METHODS: We report on results from 98 individuals enrolled in a prospective, longitudinal study. We detailed seizure frequency, type, and age of onset, and we analyzed seizure occurrence with best estimate IQ, adaptive functioning, clinical features, and genotype. We conducted multiple linear regression analyses to assess the relationship between the presence of seizures and the Vineland Adaptive Behavior Scale, Second Edition (VABS-II) Adaptive Behavior Composite score and the best estimate full-scale IQ. We also performed Chi-square tests to explore associations between seizure prevalence and genetic groupings. Finally, we performed Chi-square tests and t-tests to explore the relationship between seizures and demographic features, features that manifest in infancy, and medical features. RESULTS: Seizures were present in 41% of the cohort, and age of onset was widely variable. The presence of seizures was associated with significantly lower adaptive and intellectual functioning. Genotype-phenotype analyses were discrepant, with no differences in seizure prevalence across genetic classes, but with more genes included in deletions of participants with 22q13 deletions and seizures compared to those with 22q13 deletions and no seizures. No clinical associations were found between the presence of seizures and sex, history of pre- or neonatal complications, early infancy, or medical features. In this cohort, generalized seizures were associated with developmental regression, which is a top concern for PMS caregivers. CONCLUSIONS: These results begin to eludicate correlates of seizures in individuals with PMS and highlight the importance of early seizure management. Importantly, presence of seizures was associated with adaptive and cognitive functioning. A larger cohort might be able to identify additional associations with medical features. Genetic findings suggest an increased capability to realize genotype-phenotype relationships when deletion size is taken into account. En ligne : https://dx.doi.org/10.1186/s11689-024-09541-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder / Anna K. PROHL in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 36 Titre : Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder Type de document : texte imprimé Auteurs : Anna K. PROHL, Auteur ; Benoit SCHERRER, Auteur ; Xavier TOMAS-FERNANDEZ, Auteur ; Peter E. DAVIS, Auteur ; Rajna FILIP-DHIMA, Auteur ; Sanjay P. PRABHU, Auteur ; Jurriaan M. PETERS, Auteur ; E. Martina BEBIN, Auteur ; Darcy A. KRUEGER, Auteur ; Hope NORTHRUP, Auteur ; Joyce Y. WU, Auteur ; Mustafa SAHIN, Auteur ; Simon K. WARFIELD, Auteur Article en page(s) : 36 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/complications/pathology  Brain/growth & development/pathology  Child, Preschool  Diffusion Tensor Imaging  Female  Humans  Infant  Longitudinal Studies  Male  Prospective Studies  Tuberous Sclerosis/complications/pathology  White Matter/growth & development/pathology  Autism spectrum disorder  Infant brain development  Tuberous sclerosis complex  White matter Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is prevalent in tuberous sclerosis complex (TSC), occurring in approximately 50% of patients, and is hypothesized to be caused by disruption of neural circuits early in life. Tubers, or benign hamartomas distributed stochastically throughout the brain, are the most conspicuous of TSC neuropathology, but have not been consistently associated with ASD. Widespread neuropathology of the white matter, including deficits in myelination, neuronal migration, and axon formation, exist and may underlie ASD in TSC. We sought to identify the neural circuits associated with ASD in TSC by identifying white matter microstructural deficits in a prospectively recruited, longitudinally studied cohort of TSC infants. METHODS: TSC infants were recruited within their first year of life and longitudinally imaged at time of recruitment, 12 months of age, and at 24 months of age. Autism was diagnosed at 24 months of age with the ADOS-2. There were 108 subjects (62 TSC-ASD, 55% male; 46 TSC+ASD, 52% male) with at least one MRI and a 24-month ADOS, for a total of 187 MRI scans analyzed (109 TSC-ASD; 78 TSC+ASD). Diffusion tensor imaging properties of multiple white matter fiber bundles were sampled using a region of interest approach. Linear mixed effects modeling was performed to test the hypothesis that infants who develop ASD exhibit poor white matter microstructural integrity over the first 2 years of life compared to those who do not develop ASD. RESULTS: Subjects with TSC and ASD exhibited reduced fractional anisotropy in 9 of 17 white matter regions, sampled from the arcuate fasciculus, cingulum, corpus callosum, anterior limbs of the internal capsule, and the sagittal stratum, over the first 2 years of life compared to TSC subjects without ASD. Mean diffusivity trajectories did not differ between groups. CONCLUSIONS: Underconnectivity across multiple white matter fiber bundles develops over the first 2 years of life in subjects with TSC and ASD. Future studies examining brain-behavior relationships are needed to determine how variation in the brain structure is associated with ASD symptoms. En ligne : https://dx.doi.org/10.1186/s11689-019-9293-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder [texte imprimé] / Anna K. PROHL, Auteur ; Benoit SCHERRER, Auteur ; Xavier TOMAS-FERNANDEZ, Auteur ; Peter E. DAVIS, Auteur ; Rajna FILIP-DHIMA, Auteur ; Sanjay P. PRABHU, Auteur ; Jurriaan M. PETERS, Auteur ; E. Martina BEBIN, Auteur ; Darcy A. KRUEGER, Auteur ; Hope NORTHRUP, Auteur ; Joyce Y. WU, Auteur ; Mustafa SAHIN, Auteur ; Simon K. WARFIELD, Auteur . - 36. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 36 Mots-clés : Autism Spectrum Disorder/complications/pathology  Brain/growth & development/pathology  Child, Preschool  Diffusion Tensor Imaging  Female  Humans  Infant  Longitudinal Studies  Male  Prospective Studies  Tuberous Sclerosis/complications/pathology  White Matter/growth & development/pathology  Autism spectrum disorder  Infant brain development  Tuberous sclerosis complex  White matter Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is prevalent in tuberous sclerosis complex (TSC), occurring in approximately 50% of patients, and is hypothesized to be caused by disruption of neural circuits early in life. Tubers, or benign hamartomas distributed stochastically throughout the brain, are the most conspicuous of TSC neuropathology, but have not been consistently associated with ASD. Widespread neuropathology of the white matter, including deficits in myelination, neuronal migration, and axon formation, exist and may underlie ASD in TSC. We sought to identify the neural circuits associated with ASD in TSC by identifying white matter microstructural deficits in a prospectively recruited, longitudinally studied cohort of TSC infants. METHODS: TSC infants were recruited within their first year of life and longitudinally imaged at time of recruitment, 12 months of age, and at 24 months of age. Autism was diagnosed at 24 months of age with the ADOS-2. There were 108 subjects (62 TSC-ASD, 55% male; 46 TSC+ASD, 52% male) with at least one MRI and a 24-month ADOS, for a total of 187 MRI scans analyzed (109 TSC-ASD; 78 TSC+ASD). Diffusion tensor imaging properties of multiple white matter fiber bundles were sampled using a region of interest approach. Linear mixed effects modeling was performed to test the hypothesis that infants who develop ASD exhibit poor white matter microstructural integrity over the first 2 years of life compared to those who do not develop ASD. RESULTS: Subjects with TSC and ASD exhibited reduced fractional anisotropy in 9 of 17 white matter regions, sampled from the arcuate fasciculus, cingulum, corpus callosum, anterior limbs of the internal capsule, and the sagittal stratum, over the first 2 years of life compared to TSC subjects without ASD. Mean diffusivity trajectories did not differ between groups. CONCLUSIONS: Underconnectivity across multiple white matter fiber bundles develops over the first 2 years of life in subjects with TSC and ASD. Future studies examining brain-behavior relationships are needed to determine how variation in the brain structure is associated with ASD symptoms. En ligne : https://dx.doi.org/10.1186/s11689-019-9293-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome / Siddharth SRIVASTAVA in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome Type de document : texte imprimé Auteurs : Siddharth SRIVASTAVA, Auteur ; Emma CONDY, Auteur ; Erin CARMODY, Auteur ; Rajna FILIP-DHIMA, Auteur ; Kush KAPUR, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Latha SOORYA, Auteur ; Audrey THURM, Auteur ; Joseph D. BUXBAUM, Auteur ; Mustafa SAHIN, Auteur ; A Lexander KOLEVZON, Auteur ; DEVELOPMENTAL SYNAPTOPATHIES CONSORTIUM, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/psychology  Chromosome Deletion  Chromosome Disorders/complications  Chromosomes, Human, Pair 22  Cognition  Female  Humans  Parents  22q13 deletion  Autism  Intellectual disability  Repetitive behavior  Shank3  Stereotypy  client, Fortress Biotech), Novartis, ExpertConnect. KK is currently employed by  Alexion Pharmaceuticals, Inc. but completed this work while at Boston Children’s  Hospital. AK receives research support from AMO Pharma and consults to Ovid  Therapeutics, Acadia, and sema4. EBK has received funding from Seaside  Therapeutics, Novartis, Roche, Alcobra, Neuren, Cydan, Fulcrum, GW, Neurotrope,  Marinus, Zynerba, BioMarin, Ovid, Retrophin, AMO, Yamo, Acadia, Avexis, Ionis,  Ultragenyx, Lumos, GeneTx, and Vtesse/Sucampo/Mallinkcrodt Pharmaceuticals to  consult on trial design or development strategies and/or conduct clinical trials  in FXS or other NDDs or neurodegenerative disorders, and from Asuragen Inc to  develop testing standards for FMR1 testing. All funding to EBK is directed to  Rush University Medical Center to support rare disease programs. EBK receives no  personal funds. MS reports grant support from Novartis, Roche, Biogen, Astellas,  Aeovian, Bridgebio, Aucta and Quadrant Biosciences. He has served on Scientific  Advisory Boards for Roche, Celgene, Regenxbio, Alkermes, and Takeda. Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). This study provides a more comprehensive and quantitative profile of repetitive behaviors within the context of ID seen with the condition. METHODS: Individuals age 3-21 years with a confirmed PMS diagnosis participated in a multicenter observational study evaluating the phenotype and natural history of the disorder. We evaluated data collected from this study pertaining to repetitive behaviors from the Repetitive Behavior Scales-Revised (RBS-R). RESULTS: There were n = 90 participants who were part of this analysis. Forty-seven percent (n = 42/90) were female, and the average age at baseline evaluation was 8.88 ± 4.72 years. The mean best estimate IQ of the cohort was 26.08 ± 17.67 (range = 3.4-88), with n = 8 with mild ID (or no ID), n = 20 with moderate ID, and n = 62 with severe-profound ID. The RBS-R total overall score was 16.46 ± 13.9 (compared to 33.14 ± 20.60 reported in previous studies of ASD) (Lam and Aman, 2007), and the total number of items endorsed was 10.40 ± 6.81 (range = 0-29). After statistical correction for multiple comparisons, IQ correlated with the RBS-R stereotypic behavior subscale score (r(s) = - 0.33, unadjusted p = 0.0014, adjusted p = 0.01) and RBS-R stereotypic behavior total number of endorsed items (r(s) = - 0.32, unadjusted p = 0.0019, adjusted p = 0.01). IQ did not correlate with any other RBS-R subscale scores. CONCLUSIONS: The RBS-R total overall score in a PMS cohort appears milder compared to individuals with ASD characterized in previous studies. Stereotypic behavior in PMS may reflect cognitive functioning. En ligne : https://dx.doi.org/10.1186/s11689-021-09398-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome [texte imprimé] / Siddharth SRIVASTAVA, Auteur ; Emma CONDY, Auteur ; Erin CARMODY, Auteur ; Rajna FILIP-DHIMA, Auteur ; Kush KAPUR, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Latha SOORYA, Auteur ; Audrey THURM, Auteur ; Joseph D. BUXBAUM, Auteur ; Mustafa SAHIN, Auteur ; A Lexander KOLEVZON, Auteur ; DEVELOPMENTAL SYNAPTOPATHIES CONSORTIUM, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder/psychology  Chromosome Deletion  Chromosome Disorders/complications  Chromosomes, Human, Pair 22  Cognition  Female  Humans  Parents  22q13 deletion  Autism  Intellectual disability  Repetitive behavior  Shank3  Stereotypy  client, Fortress Biotech), Novartis, ExpertConnect. KK is currently employed by  Alexion Pharmaceuticals, Inc. but completed this work while at Boston Children’s  Hospital. AK receives research support from AMO Pharma and consults to Ovid  Therapeutics, Acadia, and sema4. EBK has received funding from Seaside  Therapeutics, Novartis, Roche, Alcobra, Neuren, Cydan, Fulcrum, GW, Neurotrope,  Marinus, Zynerba, BioMarin, Ovid, Retrophin, AMO, Yamo, Acadia, Avexis, Ionis,  Ultragenyx, Lumos, GeneTx, and Vtesse/Sucampo/Mallinkcrodt Pharmaceuticals to  consult on trial design or development strategies and/or conduct clinical trials  in FXS or other NDDs or neurodegenerative disorders, and from Asuragen Inc to  develop testing standards for FMR1 testing. All funding to EBK is directed to  Rush University Medical Center to support rare disease programs. EBK receives no  personal funds. MS reports grant support from Novartis, Roche, Biogen, Astellas,  Aeovian, Bridgebio, Aucta and Quadrant Biosciences. He has served on Scientific  Advisory Boards for Roche, Celgene, Regenxbio, Alkermes, and Takeda. Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). This study provides a more comprehensive and quantitative profile of repetitive behaviors within the context of ID seen with the condition. METHODS: Individuals age 3-21 years with a confirmed PMS diagnosis participated in a multicenter observational study evaluating the phenotype and natural history of the disorder. We evaluated data collected from this study pertaining to repetitive behaviors from the Repetitive Behavior Scales-Revised (RBS-R). RESULTS: There were n = 90 participants who were part of this analysis. Forty-seven percent (n = 42/90) were female, and the average age at baseline evaluation was 8.88 ± 4.72 years. The mean best estimate IQ of the cohort was 26.08 ± 17.67 (range = 3.4-88), with n = 8 with mild ID (or no ID), n = 20 with moderate ID, and n = 62 with severe-profound ID. The RBS-R total overall score was 16.46 ± 13.9 (compared to 33.14 ± 20.60 reported in previous studies of ASD) (Lam and Aman, 2007), and the total number of items endorsed was 10.40 ± 6.81 (range = 0-29). After statistical correction for multiple comparisons, IQ correlated with the RBS-R stereotypic behavior subscale score (r(s) = - 0.33, unadjusted p = 0.0014, adjusted p = 0.01) and RBS-R stereotypic behavior total number of endorsed items (r(s) = - 0.32, unadjusted p = 0.0019, adjusted p = 0.01). IQ did not correlate with any other RBS-R subscale scores. CONCLUSIONS: The RBS-R total overall score in a PMS cohort appears milder compared to individuals with ASD characterized in previous studies. Stereotypic behavior in PMS may reflect cognitive functioning. En ligne : https://dx.doi.org/10.1186/s11689-021-09398-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome / Michael G. MARISCAL in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 29 p. Titre : Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome Type de document : texte imprimé Auteurs : Michael G. MARISCAL, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Joseph D. BUXBAUM, Auteur ; Lauren E ETHRIDGE, Auteur ; Rajna FILIP-DHIMA, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Meera E. MODI, Auteur ; Matthew W. MOSCONI, Auteur ; Charles A. NELSON, Auteur ; Craig M. POWELL, Auteur ; Paige M. SIPER, Auteur ; Latha SOORYA, Auteur ; Andrew THALIATH, Auteur ; Audrey THURM, Auteur ; Bo ZHANG, Auteur ; Mustafa SAHIN, Auteur ; April R. LEVIN, Auteur Article en page(s) : 29 p. Langues : Anglais (eng) Mots-clés : Cross-frequency coupling  Eeg  Phase bias  Phelan-McDermid syndrome  Power Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid Syndrome (PMS) is a rare condition caused by deletion or mutation of the SHANK3 gene. Individuals with PMS frequently present with intellectual disability, autism spectrum disorder, and other neurodevelopmental challenges. Electroencephalography (EEG) can provide a window into network-level function in PMS. METHODS: Here, we analyze EEG data collected across multiple sites in individuals with PMS (n = 26) and typically developing individuals (n = 15). We quantify oscillatory power, alpha-gamma phase-amplitude coupling strength, and phase bias, a measure of the phase of cross frequency coupling thought to reflect the balance of feedforward (bottom-up) and feedback (top-down) activity. RESULTS: We find individuals with PMS display increased alpha-gamma phase bias (U = 3.841, p < 0.0005), predominantly over posterior electrodes. Most individuals with PMS demonstrate positive overall phase bias while most typically developing individuals demonstrate negative overall phase bias. Among individuals with PMS, strength of alpha-gamma phase-amplitude coupling was associated with Sameness, Ritualistic, and Compulsive behaviors as measured by the Repetitive Behavior Scales-Revised (Beta = 0.545, p = 0.011). CONCLUSIONS: Increased phase bias suggests potential circuit-level mechanisms underlying phenotype in PMS, offering opportunities for back-translation of findings into animal models and targeting in clinical trials. En ligne : http://dx.doi.org/10.1186/s13229-020-00411-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome [texte imprimé] / Michael G. MARISCAL, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Joseph D. BUXBAUM, Auteur ; Lauren E ETHRIDGE, Auteur ; Rajna FILIP-DHIMA, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Meera E. MODI, Auteur ; Matthew W. MOSCONI, Auteur ; Charles A. NELSON, Auteur ; Craig M. POWELL, Auteur ; Paige M. SIPER, Auteur ; Latha SOORYA, Auteur ; Andrew THALIATH, Auteur ; Audrey THURM, Auteur ; Bo ZHANG, Auteur ; Mustafa SAHIN, Auteur ; April R. LEVIN, Auteur . - 29 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 29 p. Mots-clés : Cross-frequency coupling  Eeg  Phase bias  Phelan-McDermid syndrome  Power Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid Syndrome (PMS) is a rare condition caused by deletion or mutation of the SHANK3 gene. Individuals with PMS frequently present with intellectual disability, autism spectrum disorder, and other neurodevelopmental challenges. Electroencephalography (EEG) can provide a window into network-level function in PMS. METHODS: Here, we analyze EEG data collected across multiple sites in individuals with PMS (n = 26) and typically developing individuals (n = 15). We quantify oscillatory power, alpha-gamma phase-amplitude coupling strength, and phase bias, a measure of the phase of cross frequency coupling thought to reflect the balance of feedforward (bottom-up) and feedback (top-down) activity. RESULTS: We find individuals with PMS display increased alpha-gamma phase bias (U = 3.841, p < 0.0005), predominantly over posterior electrodes. Most individuals with PMS demonstrate positive overall phase bias while most typically developing individuals demonstrate negative overall phase bias. Among individuals with PMS, strength of alpha-gamma phase-amplitude coupling was associated with Sameness, Ritualistic, and Compulsive behaviors as measured by the Repetitive Behavior Scales-Revised (Beta = 0.545, p = 0.011). CONCLUSIONS: Increased phase bias suggests potential circuit-level mechanisms underlying phenotype in PMS, offering opportunities for back-translation of findings into animal models and targeting in clinical trials. En ligne : http://dx.doi.org/10.1186/s13229-020-00411-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

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