687 recherche sur le mot-clé 'Cognition'

Children with Autism Spectrum Disorder of All Ages, Levels of Symptom Severity and General Cognitive Ability Display Low Processing Speed Index Scores Warranting Special Educational Assistance / M. LINNENBANK in Journal of Autism and Developmental Disorders, 52-8 (August 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3668-3675 Titre : Children with Autism Spectrum Disorder of All Ages, Levels of Symptom Severity and General Cognitive Ability Display Low Processing Speed Index Scores Warranting Special Educational Assistance Type de document : texte imprimé Auteurs : M. LINNENBANK, Auteur ; R. FELDMANN, Auteur ; Gerd SCHULTE-KÖRNE, Auteur ; S. BEIMDIEK, Auteur ; E. STRITTMATTER, Auteur Article en page(s) : p.3668-3675 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/psychology  Child  Cognition  Cognition Disorders  Humans  Wechsler Scales  Academic achievement  Autism spectrum disorder  Children  Processing speed index  Special educational assistance  Wisc-iv Index. décimale : PER Périodiques Résumé : The processing speed index (PSI) of the Wechsler intelligence scale for children (WISC-IV) has been found to predict a child's level of academic functioning. The consistently reported PSI weakness in children with autism spectrum disorder (ASD) therefore warrants special assistance and attempts at compensation for the disadvantages associated with these children's low PSI. We investigated the association of PSI scores with age, general cognitive ability [as measured by full-scale IQ (FSIQ)], symptom severity and discrepancy between the WISC-IV indices verbal comprehension (VCI) and perceptual reasoning (PRI) in 101 school children with ASD. The PSI weakness in children with ASD was not related to age, FSIQ, VCI-PRI discrepancy or any of the symptom measures. These findings suggest that school children with ASD independent of their age, level of cognitive ability, VCI-PRI profile and most notably independent of their symptom severity should be entitled to special assistance and compensation in educational settings. En ligne : http://dx.doi.org/10.1007/s10803-021-05249-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485 [article] Children with Autism Spectrum Disorder of All Ages, Levels of Symptom Severity and General Cognitive Ability Display Low Processing Speed Index Scores Warranting Special Educational Assistance [texte imprimé] / M. LINNENBANK, Auteur ; R. FELDMANN, Auteur ; Gerd SCHULTE-KÖRNE, Auteur ; S. BEIMDIEK, Auteur ; E. STRITTMATTER, Auteur . - p.3668-3675. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3668-3675 Mots-clés : Autism Spectrum Disorder/diagnosis/psychology  Child  Cognition  Cognition Disorders  Humans  Wechsler Scales  Academic achievement  Autism spectrum disorder  Children  Processing speed index  Special educational assistance  Wisc-iv Index. décimale : PER Périodiques Résumé : The processing speed index (PSI) of the Wechsler intelligence scale for children (WISC-IV) has been found to predict a child's level of academic functioning. The consistently reported PSI weakness in children with autism spectrum disorder (ASD) therefore warrants special assistance and attempts at compensation for the disadvantages associated with these children's low PSI. We investigated the association of PSI scores with age, general cognitive ability [as measured by full-scale IQ (FSIQ)], symptom severity and discrepancy between the WISC-IV indices verbal comprehension (VCI) and perceptual reasoning (PRI) in 101 school children with ASD. The PSI weakness in children with ASD was not related to age, FSIQ, VCI-PRI discrepancy or any of the symptom measures. These findings suggest that school children with ASD independent of their age, level of cognitive ability, VCI-PRI profile and most notably independent of their symptom severity should be entitled to special assistance and compensation in educational settings. En ligne : http://dx.doi.org/10.1007/s10803-021-05249-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485

Cognitive correlates of autism spectrum disorder symptoms / Camille N. JOHNSON in Autism Research, 14-11 (November 2021)  

Public ISBD [article]  inAutism Research > 14-11 (November 2021) . - p.2405-2411 Titre : Cognitive correlates of autism spectrum disorder symptoms Type de document : texte imprimé Auteurs : Camille N. JOHNSON, Auteur ; Bruce RAMPHAL, Auteur ; Emily KOE, Auteur ; Amarelis RAUDALES, Auteur ; Jeff GOLDSMITH, Auteur ; Amy E. MARGOLIS, Auteur Article en page(s) : p.2405-2411 Langues : Anglais (eng) Mots-clés : Adult  Autism Spectrum Disorder/complications  Brain  Child  Cognition  Humans  Intelligence  Intelligence Tests  adult  autism spectrum disorder  child  cognition  communication  intelligence  intelligence tests Index. décimale : PER Périodiques Résumé : Due to the diverse behavioral presentation of autism spectrum disorder (ASD), identifying ASD subtypes using patterns of cognitive abilities has become an important point of research. Some previous studies on cognitive profiles in ASD suggest that the discrepancy between verbal intelligence quotient (VIQ) and performance IQ (PIQ) is associated with ASD symptoms, while others have pointed to VIQ as the critical predictor. Given that VIQ is a component of the VIQ-PIQ discrepancy, it was unclear which was most driving these associations. This study tested whether VIQ, PIQ, or the VIQ-PIQ discrepancy was most associated with ASD symptoms in children and adults with ASD (N = 527). Using data from the Autism Brain Imaging Data Exchange (ABIDE), we tested the independent contribution of each IQ index and their discrepancy to ASD symptom severity using multiple linear regressions predicting ASD symptoms. VIQ was most associated with lower symptom severity as measured by the Autism Diagnostic Observation Schedule (ADOS) total score, and when VIQ was included in models predicting ASD symptoms, associations with PIQ and IQ discrepancy were not significant. An association between VIQ and ASD communication symptoms drove the association with ASD symptom severity. These results suggest that associations between ASD communication symptoms and IQ discrepancy or PIQ reported in prior studies likely resulted from variance shared with VIQ. Subtyping ASD on the basis of VIQ should be a point of future research, as it may allow for the development of more personalized approaches to intervention. LAY SUMMARY: Previous research on links between autism severity and verbal and nonverbal intelligence has produced mixed results. Our study examined whether verbal intelligence, nonverbal intelligence, or the discrepancy between the two was most related to autism symptoms. We found that higher verbal intelligence was most associated with less severe autism communication symptoms. Given the relevance of verbal intelligence in predicting autism symptom severity, subtyping autism on the basis of verbal intelligence could lead to more personalized treatments. En ligne : http://dx.doi.org/10.1002/aur.2577 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 [article] Cognitive correlates of autism spectrum disorder symptoms [texte imprimé] / Camille N. JOHNSON, Auteur ; Bruce RAMPHAL, Auteur ; Emily KOE, Auteur ; Amarelis RAUDALES, Auteur ; Jeff GOLDSMITH, Auteur ; Amy E. MARGOLIS, Auteur . - p.2405-2411. Langues : Anglais (eng) in Autism Research > 14-11 (November 2021) . - p.2405-2411 Mots-clés : Adult  Autism Spectrum Disorder/complications  Brain  Child  Cognition  Humans  Intelligence  Intelligence Tests  adult  autism spectrum disorder  child  cognition  communication  intelligence  intelligence tests Index. décimale : PER Périodiques Résumé : Due to the diverse behavioral presentation of autism spectrum disorder (ASD), identifying ASD subtypes using patterns of cognitive abilities has become an important point of research. Some previous studies on cognitive profiles in ASD suggest that the discrepancy between verbal intelligence quotient (VIQ) and performance IQ (PIQ) is associated with ASD symptoms, while others have pointed to VIQ as the critical predictor. Given that VIQ is a component of the VIQ-PIQ discrepancy, it was unclear which was most driving these associations. This study tested whether VIQ, PIQ, or the VIQ-PIQ discrepancy was most associated with ASD symptoms in children and adults with ASD (N = 527). Using data from the Autism Brain Imaging Data Exchange (ABIDE), we tested the independent contribution of each IQ index and their discrepancy to ASD symptom severity using multiple linear regressions predicting ASD symptoms. VIQ was most associated with lower symptom severity as measured by the Autism Diagnostic Observation Schedule (ADOS) total score, and when VIQ was included in models predicting ASD symptoms, associations with PIQ and IQ discrepancy were not significant. An association between VIQ and ASD communication symptoms drove the association with ASD symptom severity. These results suggest that associations between ASD communication symptoms and IQ discrepancy or PIQ reported in prior studies likely resulted from variance shared with VIQ. Subtyping ASD on the basis of VIQ should be a point of future research, as it may allow for the development of more personalized approaches to intervention. LAY SUMMARY: Previous research on links between autism severity and verbal and nonverbal intelligence has produced mixed results. Our study examined whether verbal intelligence, nonverbal intelligence, or the discrepancy between the two was most related to autism symptoms. We found that higher verbal intelligence was most associated with less severe autism communication symptoms. Given the relevance of verbal intelligence in predicting autism symptom severity, subtyping autism on the basis of verbal intelligence could lead to more personalized treatments. En ligne : http://dx.doi.org/10.1002/aur.2577 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450

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

Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion / Jente VERBESSELT in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion Type de document : texte imprimé Auteurs : Jente VERBESSELT, Auteur ; Jeroen BRECKPOT, Auteur ; Inge ZINK, Auteur ; Ann SWILLEN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Adolescent  Female  Male  Chromosomes, Human, Pair 16/genetics  Child, Preschool  Intellectual Disability/physiopathology/genetics  Longitudinal Studies  Chromosome Deletion  Chromosome Disorders/physiopathology/complications/genetics  Intelligence  Cognition/physiology  Child Development/physiology  Developmental Disabilities/genetics/physiopathology  Fecal Incontinence/physiopathology  Intelligence Tests  Autistic Disorder  16p11.2 deletion syndrome  Cognition  Copy number variants  Deep phenotyping  Developmental trajectories  Early development  in accordance with the Declaration of Helsinki and approved by the Ethics  Committee Research of University Hospitals Leuven (protocol code S54485, 6  December 2012 and 26 March 2021). Patients and their parents were directly  informed about the aims of the research project, and all participants signed  informed consent. Consent for publication: Not applicable. Competing interests:  The authors declare no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: 16p11.2 deletion syndrome (16p11.2DS) is a recurrent CNV that occurs de novo in approximately 70% of cases and confers risk for neurodevelopmental disorders, including intellectual disability (ID) and autism spectrum disorders (ASD). The current study focusses on developmental milestones, cognitive profiles and longitudinal cognitive trajectories. METHODS: In-person assessments, digital medical records and parental interviews on developmental history of 24 children (5-16 years) with a confirmed BP4-BP5 16p11.2DS were reviewed and analysed for developmental milestones (motor, language, continence). Standardised intelligence tests were administered in all children, and longitudinal IQ-data were available for a subgroup (79%, 19/24). RESULTS: Motor, language, and continence milestones were delayed. Average IQ was in the borderline range (IQ 71) with 46% (11/24) having borderline IQ (IQ 70-84). Both intra- and interindividual variability were found across the five cognitive domains with significant discrepancies between verbal and non-verbal skills in 55% (11/20). Longitudinal IQ-data indicate that school-aged children with 16p11.2DS perform statistically significantly lower at the second time point (p < 0.001) with 58% showing a growing into deficit trajectory. CONCLUSION: Delayed motor, language and continence milestones are common in 16p11.2DS carriers. School-aged children with 16p11.2DS show increasing cognitive impairments over time, pointing to the need for early diagnosis, regular cognitive follow-up and individualised intervention. The high prevalence of disharmonic IQ-profiles highlights the importance of expanding the focus beyond full-scale IQ (FSIQ) outcomes. Future studies in larger cohorts including carrier relatives are needed to gain more insight into the penetrance and phenotypic variability of 16p11.2DS. En ligne : https://dx.doi.org/10.1186/s11689-025-09615-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion [texte imprimé] / Jente VERBESSELT, Auteur ; Jeroen BRECKPOT, Auteur ; Inge ZINK, Auteur ; Ann SWILLEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Child  Adolescent  Female  Male  Chromosomes, Human, Pair 16/genetics  Child, Preschool  Intellectual Disability/physiopathology/genetics  Longitudinal Studies  Chromosome Deletion  Chromosome Disorders/physiopathology/complications/genetics  Intelligence  Cognition/physiology  Child Development/physiology  Developmental Disabilities/genetics/physiopathology  Fecal Incontinence/physiopathology  Intelligence Tests  Autistic Disorder  16p11.2 deletion syndrome  Cognition  Copy number variants  Deep phenotyping  Developmental trajectories  Early development  in accordance with the Declaration of Helsinki and approved by the Ethics  Committee Research of University Hospitals Leuven (protocol code S54485, 6  December 2012 and 26 March 2021). Patients and their parents were directly  informed about the aims of the research project, and all participants signed  informed consent. Consent for publication: Not applicable. Competing interests:  The authors declare no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: 16p11.2 deletion syndrome (16p11.2DS) is a recurrent CNV that occurs de novo in approximately 70% of cases and confers risk for neurodevelopmental disorders, including intellectual disability (ID) and autism spectrum disorders (ASD). The current study focusses on developmental milestones, cognitive profiles and longitudinal cognitive trajectories. METHODS: In-person assessments, digital medical records and parental interviews on developmental history of 24 children (5-16 years) with a confirmed BP4-BP5 16p11.2DS were reviewed and analysed for developmental milestones (motor, language, continence). Standardised intelligence tests were administered in all children, and longitudinal IQ-data were available for a subgroup (79%, 19/24). RESULTS: Motor, language, and continence milestones were delayed. Average IQ was in the borderline range (IQ 71) with 46% (11/24) having borderline IQ (IQ 70-84). Both intra- and interindividual variability were found across the five cognitive domains with significant discrepancies between verbal and non-verbal skills in 55% (11/20). Longitudinal IQ-data indicate that school-aged children with 16p11.2DS perform statistically significantly lower at the second time point (p < 0.001) with 58% showing a growing into deficit trajectory. CONCLUSION: Delayed motor, language and continence milestones are common in 16p11.2DS carriers. School-aged children with 16p11.2DS show increasing cognitive impairments over time, pointing to the need for early diagnosis, regular cognitive follow-up and individualised intervention. The high prevalence of disharmonic IQ-profiles highlights the importance of expanding the focus beyond full-scale IQ (FSIQ) outcomes. Future studies in larger cohorts including carrier relatives are needed to gain more insight into the penetrance and phenotypic variability of 16p11.2DS. En ligne : https://dx.doi.org/10.1186/s11689-025-09615-7 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

Four-year follow-up of a randomized controlled trial of choline for neurodevelopment in fetal alcohol spectrum disorder / Jeffrey R. WOZNIAK in Journal of Neurodevelopmental Disorders, 12 (2020)  

Permalink

Mother-infant interactions with infants with congenital visual impairment and associations with longitudinal outcomes in cognition and language / Elena SAKKALOU in Journal of Child Psychology and Psychiatry, 62-6 (June 2021)  

Permalink

Visual Detection and Decoding Skills of Aerial Photography by Adults with Autism Spectrum Disorder (ASD) / Hadas MARCIANO in Journal of Autism and Developmental Disorders, 52-3 (March 2022)  

Permalink

Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory / Samantha J. BOOTH in Journal of Neurodevelopmental Disorders, 15 (2023)  

Permalink

Absence of dynamic neural oscillatory response to environmental conditions marks childhood attention deficit hyperactivity disorder / Anne B. ARNETT in Journal of Child Psychology and Psychiatry, 63-12 (December 2022)  

Permalink