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

EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex / Ian COOK in Journal of Autism and Developmental Disorders, 50-3 (March 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-3 (March 2020) . - p.916-923 Titre : EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex Type de document : texte imprimé Auteurs : Ian COOK, Auteur ; Andrew C. WILSON, Auteur ; Jurriaan M. PETERS, Auteur ; Monisha N. GOYAL, Auteur ; E. Martina BEBIN, Auteur ; Hope NORTHRUP, Auteur ; Darcy KRUEGER, Auteur ; Andrew F. LEUCHTER, Auteur ; Mustafa SAHIN, Auteur Article en page(s) : p.916-923 Langues : Anglais (eng) Mots-clés : Autism  Biomarkers  Eeg  Tsc Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a multisystem disorder with increased prevalence of autism spectrum disorders (ASDs). This project aimed to characterize the autism phenotype of TSC and identify biomarkers of risk for ASD. Because abnormalities of EEG during sleep are tied to neurodevelopment in children, we compared electroencephalographic (EEG) measures during Stage II sleep in TSC children who either did (ASD+) or did not (ASD-) exhibit symptoms of ASD over 36-month follow up. Relative alpha band power was significantly elevated in the ASD+ group at 24 months of age with smaller differences at younger ages, suggesting this may arise from differences in brain development. These findings suggest that EEG features could enhance the detection of risk for ASD. En ligne : http://dx.doi.org/10.1007/s10803-019-04326-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=419 [article] EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex [texte imprimé] / Ian COOK, Auteur ; Andrew C. WILSON, Auteur ; Jurriaan M. PETERS, Auteur ; Monisha N. GOYAL, Auteur ; E. Martina BEBIN, Auteur ; Hope NORTHRUP, Auteur ; Darcy KRUEGER, Auteur ; Andrew F. LEUCHTER, Auteur ; Mustafa SAHIN, Auteur . - p.916-923. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-3 (March 2020) . - p.916-923 Mots-clés : Autism  Biomarkers  Eeg  Tsc Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is a multisystem disorder with increased prevalence of autism spectrum disorders (ASDs). This project aimed to characterize the autism phenotype of TSC and identify biomarkers of risk for ASD. Because abnormalities of EEG during sleep are tied to neurodevelopment in children, we compared electroencephalographic (EEG) measures during Stage II sleep in TSC children who either did (ASD+) or did not (ASD-) exhibit symptoms of ASD over 36-month follow up. Relative alpha band power was significantly elevated in the ASD+ group at 24 months of age with smaller differences at younger ages, suggesting this may arise from differences in brain development. These findings suggest that EEG features could enhance the detection of risk for ASD. En ligne : http://dx.doi.org/10.1007/s10803-019-04326-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=419

Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex / Hyuk Jin YUN ; Rutvi VYAS ; Rudolph PIENAAR ; Josephine H. WILSON ; Caroline P. GOSWAMI ; Laura F. BERTO ; Simon K. WARFIELD ; Mustafa SAHIN ; P. Ellen GRANT ; Jurriaan M. PETERS ; Kiho IM in Journal of Autism and Developmental Disorders, 54-8 (August 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-8 (August 2024) . - p.3155-3175 Titre : Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex Type de document : texte imprimé Auteurs : Hyuk Jin YUN, Auteur ; Rutvi VYAS, Auteur ; Rudolph PIENAAR, Auteur ; Josephine H. WILSON, Auteur ; Caroline P. GOSWAMI, Auteur ; Laura F. BERTO, Auteur ; Simon K. WARFIELD, Auteur ; Mustafa SAHIN, Auteur ; P. Ellen GRANT, Auteur ; Jurriaan M. PETERS, Auteur ; Kiho IM, Auteur Article en page(s) : p.3155-3175 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : A significant number of individuals with tuberous sclerosis complex (TSC) exhibit language difficulties. Here, we examined the language-related brain morphometry in 59 participants (7 participants with TSC and comorbid autism spectrum disorder (ASD) (TSC+ASD), 13 with TSC but no ASD (TSC-ASD), 10 with ASD-only (ASD), and 29 typically developing (TD) controls). A hemispheric asymmetry was noted in surface area and gray matter volume of several cortical language areas in TD, ASD, and TSC-ASD groups, but not in TSC+ASD group. TSC+ASD group demonstrated increased cortical thickness and curvature values in multiple language regions for both hemispheres, compared to other groups. After controlling for tuber load in the TSC groups, within-group differences stayed the same but the differences between TSC-ASD and TSC+ASD were no longer statistically significant. These preliminary findings suggest that comorbid ASD in TSC as well as tuber load in TSC is associated with changes in the morphometry of language regions. Future studies with larger sample sizes will be needed to confirm these findings. En ligne : https://doi.org/10.1007/s10803-023-06004-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534 [article] Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex [texte imprimé] / Hyuk Jin YUN, Auteur ; Rutvi VYAS, Auteur ; Rudolph PIENAAR, Auteur ; Josephine H. WILSON, Auteur ; Caroline P. GOSWAMI, Auteur ; Laura F. BERTO, Auteur ; Simon K. WARFIELD, Auteur ; Mustafa SAHIN, Auteur ; P. Ellen GRANT, Auteur ; Jurriaan M. PETERS, Auteur ; Kiho IM, Auteur . - p.3155-3175. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-8 (August 2024) . - p.3155-3175 Index. décimale : PER Périodiques Résumé : A significant number of individuals with tuberous sclerosis complex (TSC) exhibit language difficulties. Here, we examined the language-related brain morphometry in 59 participants (7 participants with TSC and comorbid autism spectrum disorder (ASD) (TSC+ASD), 13 with TSC but no ASD (TSC-ASD), 10 with ASD-only (ASD), and 29 typically developing (TD) controls). A hemispheric asymmetry was noted in surface area and gray matter volume of several cortical language areas in TD, ASD, and TSC-ASD groups, but not in TSC+ASD group. TSC+ASD group demonstrated increased cortical thickness and curvature values in multiple language regions for both hemispheres, compared to other groups. After controlling for tuber load in the TSC groups, within-group differences stayed the same but the differences between TSC-ASD and TSC+ASD were no longer statistically significant. These preliminary findings suggest that comorbid ASD in TSC as well as tuber load in TSC is associated with changes in the morphometry of language regions. Future studies with larger sample sizes will be needed to confirm these findings. En ligne : https://doi.org/10.1007/s10803-023-06004-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534

Publisher Correction to: Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex / Banu AHTAM in Journal of Autism and Developmental Disorders, 54-3 (March 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-3 (March 2024) . - p.1232-1232 Titre : Publisher Correction to: Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex Type de document : texte imprimé Auteurs : Banu AHTAM, Auteur ; Hyuk Jin YUN, Auteur ; Rutvi VYAS, Auteur ; Rudolph PIENAAR, Auteur ; Josephine H. WILSON, Auteur ; Caroline P. GOSWAMI, Auteur ; Laura F. BERTO, Auteur ; Simon K. WARFIELD, Auteur ; Mustafa SAHIN, Auteur ; P. Ellen GRANT, Auteur ; Jurriaan M. PETERS, Auteur ; Kiho IM, Auteur Article en page(s) : p.1232-1232 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://doi.org/10.1007/s10803-023-06098-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=524 [article] Publisher Correction to: Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex [texte imprimé] / Banu AHTAM, Auteur ; Hyuk Jin YUN, Auteur ; Rutvi VYAS, Auteur ; Rudolph PIENAAR, Auteur ; Josephine H. WILSON, Auteur ; Caroline P. GOSWAMI, Auteur ; Laura F. BERTO, Auteur ; Simon K. WARFIELD, Auteur ; Mustafa SAHIN, Auteur ; P. Ellen GRANT, Auteur ; Jurriaan M. PETERS, Auteur ; Kiho IM, Auteur . - p.1232-1232. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-3 (March 2024) . - p.1232-1232 Index. décimale : PER Périodiques En ligne : https://doi.org/10.1007/s10803-023-06098-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=524

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