9 recherche sur le mot-clé 'Cognition/physiology'

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

Bengali translation and characterisation of four cognitive and trait measures for autism spectrum conditions in India / Alokananda RUDRA in Molecular Autism, 7 (2016)  

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 50p. Titre : Bengali translation and characterisation of four cognitive and trait measures for autism spectrum conditions in India Type de document : texte imprimé Auteurs : Alokananda RUDRA, Auteur ; Jai Ranjan RAM, Auteur ; Tom LOUCAS, Auteur ; Matthew K. BELMONTE, Auteur ; Bhismadev CHAKRABARTI, Auteur Article en page(s) : 50p. Langues : Anglais (eng) Mots-clés : Adolescent  Autism Spectrum Disorder/physiopathology/psychology  Case-Control Studies  Child  Cognition/physiology  Cross-Cultural Comparison  Empathy  Facial Expression  Female  Humans  India  Intelligence Tests/standards  Language  Male  Regression Analysis  Social Skills  Surveys and Questionnaires  Theory of Mind  Translations  Assessment  Autism  Behaviour  Bengali  Central coherence  Perceptual construal  Theory of mind  Translation  Validity Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism is characterised by atypical social-communicative behaviour and restricted range of interests and repetitive behaviours. These features exist in a continuum in the general population. Behavioural measures validated across cultures and languages are required to quantify the dimensional traits of autism in these social and non-social domains. Bengali is the seventh most spoken language in the world. However, there is a serious dearth of data on standard measures of autism-related social and visual cognition in Bengali. METHODS: Bengali translations of two measures related to social-communicative functioning (the Children's Reading the Mind in the Eyes Test (RMET) and a facial emotion recognition test with stimuli taken from the Karolinska Directed Emotional Faces database), one measure of visual perceptual disembedding (the Embedded Figures Test), and a questionnaire measure (the Children's Empathy Quotient) were tested in 25 children with autism spectrum conditions (ASC) and 26 control children (mean age = 10.7 years) in Kolkata, India. Group differences were analysed by t test and multiple regression (after accounting for potential effects of gender, IQ, and age). RESULTS: Behavioural and trait measures were associated with group differences in the expected directions: ASC children scored lower on the Children's Empathy Quotient and the RMET, as well as on facial emotion recognition, but were faster and more accurate on the Embedded Figures Test. Distributional properties of these measures within groups are similar to those reported in Western countries. CONCLUSIONS: These results provide an empirical demonstration of cross-cultural generalisability and applicability of these standard behavioural and trait measures related to autism, in a major world language. En ligne : http://dx.doi.org/10.1186/s13229-016-0111-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] Bengali translation and characterisation of four cognitive and trait measures for autism spectrum conditions in India [texte imprimé] / Alokananda RUDRA, Auteur ; Jai Ranjan RAM, Auteur ; Tom LOUCAS, Auteur ; Matthew K. BELMONTE, Auteur ; Bhismadev CHAKRABARTI, Auteur . - 50p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 50p. Mots-clés : Adolescent  Autism Spectrum Disorder/physiopathology/psychology  Case-Control Studies  Child  Cognition/physiology  Cross-Cultural Comparison  Empathy  Facial Expression  Female  Humans  India  Intelligence Tests/standards  Language  Male  Regression Analysis  Social Skills  Surveys and Questionnaires  Theory of Mind  Translations  Assessment  Autism  Behaviour  Bengali  Central coherence  Perceptual construal  Theory of mind  Translation  Validity Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism is characterised by atypical social-communicative behaviour and restricted range of interests and repetitive behaviours. These features exist in a continuum in the general population. Behavioural measures validated across cultures and languages are required to quantify the dimensional traits of autism in these social and non-social domains. Bengali is the seventh most spoken language in the world. However, there is a serious dearth of data on standard measures of autism-related social and visual cognition in Bengali. METHODS: Bengali translations of two measures related to social-communicative functioning (the Children's Reading the Mind in the Eyes Test (RMET) and a facial emotion recognition test with stimuli taken from the Karolinska Directed Emotional Faces database), one measure of visual perceptual disembedding (the Embedded Figures Test), and a questionnaire measure (the Children's Empathy Quotient) were tested in 25 children with autism spectrum conditions (ASC) and 26 control children (mean age = 10.7 years) in Kolkata, India. Group differences were analysed by t test and multiple regression (after accounting for potential effects of gender, IQ, and age). RESULTS: Behavioural and trait measures were associated with group differences in the expected directions: ASC children scored lower on the Children's Empathy Quotient and the RMET, as well as on facial emotion recognition, but were faster and more accurate on the Embedded Figures Test. Distributional properties of these measures within groups are similar to those reported in Western countries. CONCLUSIONS: These results provide an empirical demonstration of cross-cultural generalisability and applicability of these standard behavioural and trait measures related to autism, in a major world language. En ligne : http://dx.doi.org/10.1186/s13229-016-0111-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria / Jèssica PARDO in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria Type de document : texte imprimé Auteurs : Jèssica PARDO, Auteur ; Clara CAPDEVILA-LACASA, Auteur ; Bàrbara SEGURA, Auteur ; Adriana PANÉ, Auteur ; Pedro J. MORENO, Auteur ; Glòria GARRABOU, Auteur ; Josep M. GRAU-JUNYENT, Auteur ; Carme JUNQUÉ, Auteur Langues : Anglais (eng) Mots-clés : Humans  Phenylketonurias/blood/diagnostic imaging/psychology/diet  therapy/pathology/complications  Phenylalanine/blood  Adult  Male  Female  Diffusion Tensor Imaging  White Matter/diagnostic imaging/pathology  Cognition/physiology  Young Adult  Brain/diagnostic imaging  Neuropsychological Tests  Cerebral white matter  Dietary control  Neuropsychological performance  Phenylketonuria  by the Bioethics Committee of the University of Barcelona (IRB00003099) and  Hospital Clínic of Barcelona (HCB/2020/0552) and was conducted in accordance with  the basic principles of the Declaration of Helsinki. This study was conducted  following the ethical standards of the responsible committee on human  experimentation (institutional and national) and with the Helsinki Declaration of  1975, as revised in 2000. All the participants of this study provided signed  written informed consent, after a complete explanation of the procedures  involved, and are available from the corresponding author upon reasonable  request. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Altered white matter (WM) is consistently reported in patients with phenylketonuria (PKU). However, the knowledge about WM microstructural integrity in early-treated adults with classical PKU and its relationship with cognition and metabolic parameters is inconclusive. This study aims to explore the cerebral WM microstructural alterations in adult patients with early-treated classical PKU and their association with blood phenylalanine (Phe) levels and neuropsychological performance using whole-brain diffusion tensor imaging (DTI). METHODS: Twenty-nine patients with early-treated classical PKU (mean age = 30.86, SD = 7.74) and 31 healthy controls (mean age = 32.45, SD = 9.40) underwent neuropsychological assessment and MRI. Phe dry blood spot (DBS-Phe) samples, along with venous Phe levels, were collected from the PKU sample to calculate the index of dietary control (IDC). Tract-based spatial statistics (TBSS) of the mean diffusivity (MD), and fractional anisotropy (FA), were carried out with FSL v6.0.4 to assess between-group differences and to explore associations with both cognitive and clinical data. RESULTS: Patients exhibited a widespread white matter tract involvement, with lower MD and higher FA values compared to controls. The most affected tracts were the inferior longitudinal fasciculus and inferior fronto-occipital fasciculus for MD, and the anterior corona radiata, uncinate fasciculus and forceps minor for FA. MD negatively correlated with IDC and venous Phe levels, whereas FA negatively correlated with full-scale intelligence quotient (FSIQ) (p-value ≤0.05 FWE-corrected). CONCLUSIONS: Microstructural WM alterations were present in adults with early-treated classical PKU, and these abnormalities were related to global intelligence and metabolic control markers. Although our results suggest the importance of proper disease management, further studies are needed to determine its long-term relevance. En ligne : https://dx.doi.org/10.1186/s11689-025-09622-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria [texte imprimé] / Jèssica PARDO, Auteur ; Clara CAPDEVILA-LACASA, Auteur ; Bàrbara SEGURA, Auteur ; Adriana PANÉ, Auteur ; Pedro J. MORENO, Auteur ; Glòria GARRABOU, Auteur ; Josep M. GRAU-JUNYENT, Auteur ; Carme JUNQUÉ, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Phenylketonurias/blood/diagnostic imaging/psychology/diet  therapy/pathology/complications  Phenylalanine/blood  Adult  Male  Female  Diffusion Tensor Imaging  White Matter/diagnostic imaging/pathology  Cognition/physiology  Young Adult  Brain/diagnostic imaging  Neuropsychological Tests  Cerebral white matter  Dietary control  Neuropsychological performance  Phenylketonuria  by the Bioethics Committee of the University of Barcelona (IRB00003099) and  Hospital Clínic of Barcelona (HCB/2020/0552) and was conducted in accordance with  the basic principles of the Declaration of Helsinki. This study was conducted  following the ethical standards of the responsible committee on human  experimentation (institutional and national) and with the Helsinki Declaration of  1975, as revised in 2000. All the participants of this study provided signed  written informed consent, after a complete explanation of the procedures  involved, and are available from the corresponding author upon reasonable  request. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Altered white matter (WM) is consistently reported in patients with phenylketonuria (PKU). However, the knowledge about WM microstructural integrity in early-treated adults with classical PKU and its relationship with cognition and metabolic parameters is inconclusive. This study aims to explore the cerebral WM microstructural alterations in adult patients with early-treated classical PKU and their association with blood phenylalanine (Phe) levels and neuropsychological performance using whole-brain diffusion tensor imaging (DTI). METHODS: Twenty-nine patients with early-treated classical PKU (mean age = 30.86, SD = 7.74) and 31 healthy controls (mean age = 32.45, SD = 9.40) underwent neuropsychological assessment and MRI. Phe dry blood spot (DBS-Phe) samples, along with venous Phe levels, were collected from the PKU sample to calculate the index of dietary control (IDC). Tract-based spatial statistics (TBSS) of the mean diffusivity (MD), and fractional anisotropy (FA), were carried out with FSL v6.0.4 to assess between-group differences and to explore associations with both cognitive and clinical data. RESULTS: Patients exhibited a widespread white matter tract involvement, with lower MD and higher FA values compared to controls. The most affected tracts were the inferior longitudinal fasciculus and inferior fronto-occipital fasciculus for MD, and the anterior corona radiata, uncinate fasciculus and forceps minor for FA. MD negatively correlated with IDC and venous Phe levels, whereas FA negatively correlated with full-scale intelligence quotient (FSIQ) (p-value ≤0.05 FWE-corrected). CONCLUSIONS: Microstructural WM alterations were present in adults with early-treated classical PKU, and these abnormalities were related to global intelligence and metabolic control markers. Although our results suggest the importance of proper disease management, further studies are needed to determine its long-term relevance. En ligne : https://dx.doi.org/10.1186/s11689-025-09622-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Evidence of neurocognitive and resting state functional connectivity differences in carriers of NRXN1 deletions / Jacqueline FITZGERALD in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Evidence of neurocognitive and resting state functional connectivity differences in carriers of NRXN1 deletions Type de document : texte imprimé Auteurs : Jacqueline FITZGERALD, Auteur ; Ciara J. MOLLOY, Auteur ; Thomas DINNEEN, Auteur ; Niamh E. FEERICK, Auteur ; Matthew O'SULLIVAN, Auteur ; Richard O'CONAILL, Auteur ; Maryam AL-SHEHHI, Auteur ; Richard REILLY, Auteur ; Sally Ann LYNCH, Auteur ; Eleisa A. HERON, Auteur ; Clare KELLY, Auteur ; Sanbing SHEN, Auteur ; Louise GALLAGHER, Auteur Langues : Anglais (eng) Mots-clés : Humans  Female  Male  Magnetic Resonance Imaging  Adult  Young Adult  Calcium-Binding Proteins/genetics  Diffusion Tensor Imaging  Brain/diagnostic imaging/physiopathology  Neural Cell Adhesion Molecules/genetics  Adolescent  Cell Adhesion Molecules, Neuronal/genetics  Cognition/physiology  Neuropsychological Tests  Gene Deletion  Neural Pathways/diagnostic imaging/physiopathology  Executive Function/physiology  Cognition  Copy number variant  NRXN1 deletion  Neuroimaging  the study was obtained from St. James’s Hospital/Tallaght University Hospital  Research Ethics Committee (REC reference: 2015/03/01). Participants over 18 years  provided written consent and parental written consent was provided for those  under 18 years. Consent for publication: All authors who contributed to the  article have approved the submitted version. Competing interests: The authors  declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: NRXN1 deletion (NRXN1 del) is a rare copy number variant associated with several neurodevelopmental, neuropsychiatric, and cognitive outcomes. The NRXN1 gene encodes for a pre-synaptic cell adhesion molecule that is important for synapse formation, regulation and neurotransmission. We used a gene-first approach to investigate neurocognitive and brain phenotypes in NRXN1 del carriers. METHODS: Forty-two participants (21 NRXN1 del carriers and 21 neurotypical age and sex-matched comparisons) completed IQ assessments, and a neurocognitive battery, including, executive function, attention, and social cognition tasks. Magnetic resonance imaging (MRI) data, including T1-weighted anatomical scans, resting state functional MRI and diffusion tensor imaging, were acquired in 36 participants (17 NRXN1 del carriers and 19 comparisons). RESULTS: NRXN1 del carriers had lower mean IQ and poorer spatial working memory performance compared to comparisons (p ≤ 0.05). Neuroimaging results revealed group differences in visual and ventral attention resting state networks (p < 0.05). Network-based statistical analysis showed a significant effect of group status for 28/115 connections, with poorer segregation between visual and default networks in NRXN1 del carriers relative to comparisons. No differences in brain structural volume or cortical thickness, or diffusion measures of white matter structural architecture were observed between groups. CONCLUSIONS: This exploratory study provides evidence for neurocognitive impacts and brain functional differences related to underlying synaptic mechanisms. Brain functional differences in NRXN1 del carriers may support altered excitation/inhibition dynamics within the brain. Gene-first approaches may establish brain-based translational markers to identify neurobiologically informed subgroups within neurodevelopmental and neuropsychiatric conditions, and ultimately transdiagnostic therapeutic strategies. En ligne : https://dx.doi.org/10.1186/s11689-025-09625-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Evidence of neurocognitive and resting state functional connectivity differences in carriers of NRXN1 deletions [texte imprimé] / Jacqueline FITZGERALD, Auteur ; Ciara J. MOLLOY, Auteur ; Thomas DINNEEN, Auteur ; Niamh E. FEERICK, Auteur ; Matthew O'SULLIVAN, Auteur ; Richard O'CONAILL, Auteur ; Maryam AL-SHEHHI, Auteur ; Richard REILLY, Auteur ; Sally Ann LYNCH, Auteur ; Eleisa A. HERON, Auteur ; Clare KELLY, Auteur ; Sanbing SHEN, Auteur ; Louise GALLAGHER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Female  Male  Magnetic Resonance Imaging  Adult  Young Adult  Calcium-Binding Proteins/genetics  Diffusion Tensor Imaging  Brain/diagnostic imaging/physiopathology  Neural Cell Adhesion Molecules/genetics  Adolescent  Cell Adhesion Molecules, Neuronal/genetics  Cognition/physiology  Neuropsychological Tests  Gene Deletion  Neural Pathways/diagnostic imaging/physiopathology  Executive Function/physiology  Cognition  Copy number variant  NRXN1 deletion  Neuroimaging  the study was obtained from St. James’s Hospital/Tallaght University Hospital  Research Ethics Committee (REC reference: 2015/03/01). Participants over 18 years  provided written consent and parental written consent was provided for those  under 18 years. Consent for publication: All authors who contributed to the  article have approved the submitted version. Competing interests: The authors  declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: NRXN1 deletion (NRXN1 del) is a rare copy number variant associated with several neurodevelopmental, neuropsychiatric, and cognitive outcomes. The NRXN1 gene encodes for a pre-synaptic cell adhesion molecule that is important for synapse formation, regulation and neurotransmission. We used a gene-first approach to investigate neurocognitive and brain phenotypes in NRXN1 del carriers. METHODS: Forty-two participants (21 NRXN1 del carriers and 21 neurotypical age and sex-matched comparisons) completed IQ assessments, and a neurocognitive battery, including, executive function, attention, and social cognition tasks. Magnetic resonance imaging (MRI) data, including T1-weighted anatomical scans, resting state functional MRI and diffusion tensor imaging, were acquired in 36 participants (17 NRXN1 del carriers and 19 comparisons). RESULTS: NRXN1 del carriers had lower mean IQ and poorer spatial working memory performance compared to comparisons (p ≤ 0.05). Neuroimaging results revealed group differences in visual and ventral attention resting state networks (p < 0.05). Network-based statistical analysis showed a significant effect of group status for 28/115 connections, with poorer segregation between visual and default networks in NRXN1 del carriers relative to comparisons. No differences in brain structural volume or cortical thickness, or diffusion measures of white matter structural architecture were observed between groups. CONCLUSIONS: This exploratory study provides evidence for neurocognitive impacts and brain functional differences related to underlying synaptic mechanisms. Brain functional differences in NRXN1 del carriers may support altered excitation/inhibition dynamics within the brain. Gene-first approaches may establish brain-based translational markers to identify neurobiologically informed subgroups within neurodevelopmental and neuropsychiatric conditions, and ultimately transdiagnostic therapeutic strategies. En ligne : https://dx.doi.org/10.1186/s11689-025-09625-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome / Rebecca GRZADZINSKI in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome Type de document : texte imprimé Auteurs : Rebecca GRZADZINSKI, Auteur ; Kattia MATA, Auteur ; Ambika S. BHATT, Auteur ; Alapika JATKAR, Auteur ; Dea GARIC, Auteur ; Mark D. SHEN, Auteur ; Jessica B. GIRAULT, Auteur ; Tanya ST JOHN, Auteur ; Juhi PANDEY, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Annette ESTES, Auteur ; Audrey M. SHEN, Auteur ; Stephen DAGER, Auteur ; Robert SCHULTZ, Auteur ; Kelly BOTTERON, Auteur ; Natasha MARRUS, Auteur ; Martin STYNER, Auteur ; Alan EVANS, Auteur ; Sun Hyung KIM, Auteur ; Robert MCKINSTRY, Auteur ; Guido GERIG, Auteur ; Joseph PIVEN, Auteur ; Heather HAZLETT, Auteur ; IBIS NETWORK, Auteur Langues : Anglais (eng) Mots-clés : Humans  Down Syndrome/diagnostic imaging/physiopathology/pathology  Male  Female  Child  Magnetic Resonance Imaging  Adaptation, Psychological/physiology  Cognition/physiology  Brain/diagnostic imaging/pathology/physiopathology  Autism Spectrum Disorder/diagnostic imaging/physiopathology/pathology  Organ Size  Cerebellum/diagnostic imaging/pathology/physiopathology  Adaptive  Autism spectrum disorder  Brain volumes  Cognitive  Cortical volumes  Down syndrome  Intellectual disability  Mri  Neurobehavioral/behavioral profiles  Neurodevelopmental disorder  Neuroimaging  School-age children  in this work was approved by the local Institutional Review Board. Consent for  publication: All authors have reviewed the manuscript and approved it for  publication. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS. METHODS: School-age children (mean = 9.7 years ± 1.1) underwent comprehensive assessments, including cognitive and adaptive assessments, as well as an MRI scan without the use of sedation. Children with DS (n = 35) were compared to available samples of typically developing (TD; n = 80) and ASD children (n = 29). ANOVAs were conducted to compare groups on cognitive and adaptive assessments. ANCOVAs (covarying for age, sex, and total cerebral volume; TCV) compared cortical brain volumes between groups. Correlations between behavioral metrics and cortical and cerebellar volumes (separately for gray (GM) and white matter (WM)) were conducted separately by group. RESULTS: As expected, children with DS had significantly lower cognitive skills compared to ASD and TD children. Daily Living adaptive skills were comparable between ASD children and children with DS, and both groups scored lower than TD children. Children with DS exhibited a smaller TCV compared to ASD and TD children. Additionally, when controlling for TCV, age, and sex, children with DS had significantly smaller total GM and tissue volumes. Cerebellum volumes were significantly correlated with Daily Living adaptive behaviors in the DS group only. CONCLUSIONS: Despite children with DS exhibiting lower cognitive skills and smaller brain volume overall than children with ASD, their deficits in Socialization and Daily Living adaptive skills are comparable. Differences in lobar volumes (e.g., Right Frontal GM/WM, Left Frontal WM, and Left and Right Temporal WM) were observed above and beyond overall differences in total volume. The correlation between cerebellum volumes and Daily Living adaptive behaviors in the DS group provides a novel area to explore in future research. En ligne : https://dx.doi.org/10.1186/s11689-024-09581-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome [texte imprimé] / Rebecca GRZADZINSKI, Auteur ; Kattia MATA, Auteur ; Ambika S. BHATT, Auteur ; Alapika JATKAR, Auteur ; Dea GARIC, Auteur ; Mark D. SHEN, Auteur ; Jessica B. GIRAULT, Auteur ; Tanya ST JOHN, Auteur ; Juhi PANDEY, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Annette ESTES, Auteur ; Audrey M. SHEN, Auteur ; Stephen DAGER, Auteur ; Robert SCHULTZ, Auteur ; Kelly BOTTERON, Auteur ; Natasha MARRUS, Auteur ; Martin STYNER, Auteur ; Alan EVANS, Auteur ; Sun Hyung KIM, Auteur ; Robert MCKINSTRY, Auteur ; Guido GERIG, Auteur ; Joseph PIVEN, Auteur ; Heather HAZLETT, Auteur ; IBIS NETWORK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Down Syndrome/diagnostic imaging/physiopathology/pathology  Male  Female  Child  Magnetic Resonance Imaging  Adaptation, Psychological/physiology  Cognition/physiology  Brain/diagnostic imaging/pathology/physiopathology  Autism Spectrum Disorder/diagnostic imaging/physiopathology/pathology  Organ Size  Cerebellum/diagnostic imaging/pathology/physiopathology  Adaptive  Autism spectrum disorder  Brain volumes  Cognitive  Cortical volumes  Down syndrome  Intellectual disability  Mri  Neurobehavioral/behavioral profiles  Neurodevelopmental disorder  Neuroimaging  School-age children  in this work was approved by the local Institutional Review Board. Consent for  publication: All authors have reviewed the manuscript and approved it for  publication. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS. METHODS: School-age children (mean = 9.7 years ± 1.1) underwent comprehensive assessments, including cognitive and adaptive assessments, as well as an MRI scan without the use of sedation. Children with DS (n = 35) were compared to available samples of typically developing (TD; n = 80) and ASD children (n = 29). ANOVAs were conducted to compare groups on cognitive and adaptive assessments. ANCOVAs (covarying for age, sex, and total cerebral volume; TCV) compared cortical brain volumes between groups. Correlations between behavioral metrics and cortical and cerebellar volumes (separately for gray (GM) and white matter (WM)) were conducted separately by group. RESULTS: As expected, children with DS had significantly lower cognitive skills compared to ASD and TD children. Daily Living adaptive skills were comparable between ASD children and children with DS, and both groups scored lower than TD children. Children with DS exhibited a smaller TCV compared to ASD and TD children. Additionally, when controlling for TCV, age, and sex, children with DS had significantly smaller total GM and tissue volumes. Cerebellum volumes were significantly correlated with Daily Living adaptive behaviors in the DS group only. CONCLUSIONS: Despite children with DS exhibiting lower cognitive skills and smaller brain volume overall than children with ASD, their deficits in Socialization and Daily Living adaptive skills are comparable. Differences in lobar volumes (e.g., Right Frontal GM/WM, Left Frontal WM, and Left and Right Temporal WM) were observed above and beyond overall differences in total volume. The correlation between cerebellum volumes and Daily Living adaptive behaviors in the DS group provides a novel area to explore in future research. En ligne : https://dx.doi.org/10.1186/s11689-024-09581-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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