8 recherche sur le mot-clé 'authors declare no competing interests.'

Challenges with shifting, regardless of disengagement: attention mechanisms and eye movements in Williams syndrome / Astrid HALLMAN in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Challenges with shifting, regardless of disengagement: attention mechanisms and eye movements in Williams syndrome Type de document : texte imprimé Auteurs : Astrid HALLMAN, Auteur ; Charlotte WILLFORS, Auteur ; Christine FAWCETT, Auteur ; Matilda A. FRICK, Auteur ; Ann NORDGREN, Auteur ; Johan Lundin KLEBERG, Auteur Langues : Anglais (eng) Mots-clés : Eye tracking  Intellectual disability  Orienting attention  Phasic alerting effect  Pupil dilation  Shifting attention  Visual disengagement  Williams syndrome  in accordance with the Declaration of Helsinki and received approval from the  Regional Ethics Committee of Stockholm, Sweden (dnr 2018/1218-31 with subsequent  amendments). Informed consents were collected from the participants and/or their  legal guardians. Informed assent was obtained from all participants who were able  to assent. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: People with Williams syndrome (WS) face challenges in various areas of cognitive processing, including attention. Previous studies suggest that these challenges are particularly pronounced when disengagement of attention from a previously attended stimulus is required, as compared to shifting attention without the need to disengage. Difficulties with attention could in turn be implicated in several of the behavioral characteristics of WS. Here, disengagement and shifting of visual attention, together with pupil dilation, were independently assessed in one of the largest eye-tracking studies of WS to date. METHODS: We investigated shifting, disengagement, and the effects of auditory alerting cues on pupil dilation in WS individuals (n = 45, age range = 9–58 years), non-WS individuals with intellectual disability (ID) (n = 36, age range = 6–59 years), and typically developed (TD) infants (n = 32, age range = 6–7 months), children and adults (n = 31, age range = 9–60 years), using a modified gap-overlap task. Data were analyzed using linear mixed-effect models (LMMs). RESULTS: Individuals with WS were less likely to shift their attention to upcoming targets than TD individuals (all ages), but more likely than the ID group to do so. When they did shift attention, participants with WS and ID were slower to initiate a gaze shift than TD participants regardless of whether disengagement was needed. In the WS group, failure to shift attention was strongly predicted by higher arousal (pupil dilation), which was induced by auditory alerting cues. CONCLUSIONS: Contrasting with previous theories of attention in WS, we found no evidence for a specific challenge in disengaging attention. Instead, our results point to a more general challenge in shifting attention. Reduced attention shifting in WS may be partly explained by atypical arousal regulation. These results contribute to our understanding of the WS phenotype. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09639-z. En ligne : https://dx.doi.org/10.1186/s11689-025-09639-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Challenges with shifting, regardless of disengagement: attention mechanisms and eye movements in Williams syndrome [texte imprimé] / Astrid HALLMAN, Auteur ; Charlotte WILLFORS, Auteur ; Christine FAWCETT, Auteur ; Matilda A. FRICK, Auteur ; Ann NORDGREN, Auteur ; Johan Lundin KLEBERG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Eye tracking  Intellectual disability  Orienting attention  Phasic alerting effect  Pupil dilation  Shifting attention  Visual disengagement  Williams syndrome  in accordance with the Declaration of Helsinki and received approval from the  Regional Ethics Committee of Stockholm, Sweden (dnr 2018/1218-31 with subsequent  amendments). Informed consents were collected from the participants and/or their  legal guardians. Informed assent was obtained from all participants who were able  to assent. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: People with Williams syndrome (WS) face challenges in various areas of cognitive processing, including attention. Previous studies suggest that these challenges are particularly pronounced when disengagement of attention from a previously attended stimulus is required, as compared to shifting attention without the need to disengage. Difficulties with attention could in turn be implicated in several of the behavioral characteristics of WS. Here, disengagement and shifting of visual attention, together with pupil dilation, were independently assessed in one of the largest eye-tracking studies of WS to date. METHODS: We investigated shifting, disengagement, and the effects of auditory alerting cues on pupil dilation in WS individuals (n = 45, age range = 9–58 years), non-WS individuals with intellectual disability (ID) (n = 36, age range = 6–59 years), and typically developed (TD) infants (n = 32, age range = 6–7 months), children and adults (n = 31, age range = 9–60 years), using a modified gap-overlap task. Data were analyzed using linear mixed-effect models (LMMs). RESULTS: Individuals with WS were less likely to shift their attention to upcoming targets than TD individuals (all ages), but more likely than the ID group to do so. When they did shift attention, participants with WS and ID were slower to initiate a gaze shift than TD participants regardless of whether disengagement was needed. In the WS group, failure to shift attention was strongly predicted by higher arousal (pupil dilation), which was induced by auditory alerting cues. CONCLUSIONS: Contrasting with previous theories of attention in WS, we found no evidence for a specific challenge in disengaging attention. Instead, our results point to a more general challenge in shifting attention. Reduced attention shifting in WS may be partly explained by atypical arousal regulation. These results contribute to our understanding of the WS phenotype. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09639-z. En ligne : https://dx.doi.org/10.1186/s11689-025-09639-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Attenuated processing of vowels in the left temporal cortex predicts speech-in-noise perception deficit in children with autism / Kirill A. FADEEV in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Attenuated processing of vowels in the left temporal cortex predicts speech-in-noise perception deficit in children with autism Type de document : texte imprimé Auteurs : Kirill A. FADEEV, Auteur ; Ilacai V. ROMERO REYES, Auteur ; Dzerassa E. GOIAEVA, Auteur ; Tatiana S. OBUKHOVA, Auteur ; Tatiana M. OVSIANNIKOVA, Auteur ; Andrey O. PROKOFYEV, Auteur ; Anna M. RYTIKOVA, Auteur ; Artem Y. NOVIKOV, Auteur ; Vladimir V. KOZUNOV, Auteur ; Tatiana A. STROGANOVA, Auteur ; Elena V. OREKHOVA, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Speech Perception/physiology  Magnetoencephalography  Child  Temporal Lobe/physiopathology  Noise  Acoustic Stimulation  Evoked Potentials, Auditory/physiology  Autism Spectrum Disorder/physiopathology/complications  Adolescent  Auditory Cortex/physiopathology  Autistic Disorder/physiopathology/complications  Auditory processing disorder  Autism spectrum disorder (ASD)  Children  Formant structure  Magnetoencephalography (MEG)  Periodicity pitch  Speech-in-noise perception  Sustained processing negativity (SPN)  Vowels  of the Moscow State University of Psychology and Education approved this  investigation. All children gave verbal consent to participate in the study and  their caregivers gave written consent to participate. Consent for publication:  All children gave verbal consent to participate in the study and their caregivers  gave written consent for publication of anonymized data. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Difficulties with speech-in-noise perception in autism spectrum disorders (ASD) may be associated with impaired analysis of speech sounds, such as vowels, which represent the fundamental phoneme constituents of human speech. Vowels elicit early (< 100 ms) sustained processing negativity (SPN) in the auditory cortex that reflects the detection of an acoustic pattern based on the presence of formant structure and/or periodic envelope information (f0) and its transformation into an auditory "object". METHODS: We used magnetoencephalography (MEG) and individual brain models to investigate whether SPN is altered in children with ASD and whether this deficit is associated with impairment in their ability to perceive speech in the background of noise. MEG was recorded while boys with ASD and typically developing boys passively listened to sounds that differed in the presence/absence of f0 periodicity and formant structure. Word-in-noise perception was assessed in the separate psychoacoustic experiment using stationary and amplitude modulated noise with varying signal-to-noise ratio. RESULTS: SPN was present in both groups with similarly early onset. In children with ASD, SPN associated with processing formant structure was reduced predominantly in the cortical areas lateral to and medial to the primary auditory cortex, starting at ~ 150-200 ms after the stimulus onset. In the left hemisphere, this deficit correlated with impaired ability of children with ASD to recognize words in amplitude-modulated noise, but not in stationary noise. CONCLUSIONS: These results suggest that perceptual grouping of vowel formants into phonemes is impaired in children with ASD and that, in the left hemisphere, this deficit contributes to their difficulties with speech perception in fluctuating background noise. En ligne : https://dx.doi.org/10.1186/s11689-024-09585-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Attenuated processing of vowels in the left temporal cortex predicts speech-in-noise perception deficit in children with autism [texte imprimé] / Kirill A. FADEEV, Auteur ; Ilacai V. ROMERO REYES, Auteur ; Dzerassa E. GOIAEVA, Auteur ; Tatiana S. OBUKHOVA, Auteur ; Tatiana M. OVSIANNIKOVA, Auteur ; Andrey O. PROKOFYEV, Auteur ; Anna M. RYTIKOVA, Auteur ; Artem Y. NOVIKOV, Auteur ; Vladimir V. KOZUNOV, Auteur ; Tatiana A. STROGANOVA, Auteur ; Elena V. OREKHOVA, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Speech Perception/physiology  Magnetoencephalography  Child  Temporal Lobe/physiopathology  Noise  Acoustic Stimulation  Evoked Potentials, Auditory/physiology  Autism Spectrum Disorder/physiopathology/complications  Adolescent  Auditory Cortex/physiopathology  Autistic Disorder/physiopathology/complications  Auditory processing disorder  Autism spectrum disorder (ASD)  Children  Formant structure  Magnetoencephalography (MEG)  Periodicity pitch  Speech-in-noise perception  Sustained processing negativity (SPN)  Vowels  of the Moscow State University of Psychology and Education approved this  investigation. All children gave verbal consent to participate in the study and  their caregivers gave written consent to participate. Consent for publication:  All children gave verbal consent to participate in the study and their caregivers  gave written consent for publication of anonymized data. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Difficulties with speech-in-noise perception in autism spectrum disorders (ASD) may be associated with impaired analysis of speech sounds, such as vowels, which represent the fundamental phoneme constituents of human speech. Vowels elicit early (< 100 ms) sustained processing negativity (SPN) in the auditory cortex that reflects the detection of an acoustic pattern based on the presence of formant structure and/or periodic envelope information (f0) and its transformation into an auditory "object". METHODS: We used magnetoencephalography (MEG) and individual brain models to investigate whether SPN is altered in children with ASD and whether this deficit is associated with impairment in their ability to perceive speech in the background of noise. MEG was recorded while boys with ASD and typically developing boys passively listened to sounds that differed in the presence/absence of f0 periodicity and formant structure. Word-in-noise perception was assessed in the separate psychoacoustic experiment using stationary and amplitude modulated noise with varying signal-to-noise ratio. RESULTS: SPN was present in both groups with similarly early onset. In children with ASD, SPN associated with processing formant structure was reduced predominantly in the cortical areas lateral to and medial to the primary auditory cortex, starting at ~ 150-200 ms after the stimulus onset. In the left hemisphere, this deficit correlated with impaired ability of children with ASD to recognize words in amplitude-modulated noise, but not in stationary noise. CONCLUSIONS: These results suggest that perceptual grouping of vowel formants into phonemes is impaired in children with ASD and that, in the left hemisphere, this deficit contributes to their difficulties with speech perception in fluctuating background noise. En ligne : https://dx.doi.org/10.1186/s11689-024-09585-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Common and rare variant analyses implicate late-infancy cerebellar development and immune genes in ADHD / Yuanxin ZHONG in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Common and rare variant analyses implicate late-infancy cerebellar development and immune genes in ADHD Type de document : texte imprimé Auteurs : Yuanxin ZHONG, Auteur ; Larry W. BAUM, Auteur ; Justin D. TUBBS, Auteur ; Rui YE, Auteur ; Lu Hua CHEN, Auteur ; Tian WU, Auteur ; Se-fong HUNG, Auteur ; Chun-pan TANG, Auteur ; Ting-pong HO, Auteur ; Robert MOYZIS, Auteur ; James SWANSON, Auteur ; Chi-chiu LEE, Auteur ; Pak C. SHAM, Auteur ; Patrick W.L. LEUNG, Auteur Langues : Anglais (eng) Mots-clés : Humans  Attention Deficit Disorder with  Hyperactivity/genetics/immunology/physiopathology  Cerebellum/growth & development/diagnostic imaging/physiopathology  Male  Female  Genome-Wide Association Study  Genetic Predisposition to Disease  Child  Magnetic Resonance Imaging  Hong Kong  Polymorphism, Single Nucleotide  Infant  Adhd  Cerebellum  Common variant  Immune response  Late-infancy  Low-frequency / rare variant  University of Hong Kong-New Territories East Cluster, the Hospital Authority  Kowloon Central and Kowloon West Cluster Clinical Research Ethics Committee  provided ethical approval for this study, which complies with the most recent  Declaration of Helsinki. All participants provided informed consent for the  current study. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : OBJECTIVE: Attention-deficit hyperactivity disorder (ADHD) is a common neuropsychiatric disorder with a significant genetic component. The latest genome-wide association study (GWAS) meta-analysis of ADHD identified 27 whole-genome significant risk loci in the European population. However, genetic risk factors for ADHD are less well-characterized in the Asian population, especially for low-frequency / rare variants. METHODS: In this study, we aimed to investigate the contributions of both common and low-frequency / rare variants to ADHD in a Hong Kong sample. Our sample comprised 279 cases and 432 controls who underwent genotyping using the Illumina Infinium Global Screening Array. We employed various analytical methods at different levels, while also leveraging multi-omics data and large-scale summary statistics to comprehensively analyze the genetic basis of ADHD. RESULTS: We identified 41 potential genomic risk loci with a suggestive association (p < 1e(-4)), pointing to 111 candidate risk genes, which were enriched for genes differentially expressed during late infancy brain development. Furthermore, tissue enrichment analysis implicated the involvement of the cerebellum. At the polygenic level, we also discovered a strong genetic correlation with resting-state functional MRI connectivity of the cerebellum involved in the attention/central executive and subcortical-cerebellum networks. In addition, an accumulation of ADHD common-variant risks found in European ancestry samples was found to be significantly associated with ADHD in the current study. In low-frequency / rare variant analyses, we discovered the correlations between ADHD and collapsing effects of rare damaging variants in TEP1, MTMR10, DBH, TBCC, and ANO1. Based on biological and functional profiles of the potential risk genes and gene sets, both common and low-frequency / rare variant analyses demonstrated that ADHD genetic risk was associated with immune processes. CONCLUSIONS: These findings re-validate the abnormal development of the neural system in ADHD and extend the existing neuro-dysfunction hypothesis to a multi-system perspective. The current study identified convergent risk factors from common and low-frequency / rare variants, which implicates vulnerability in late-infancy brain development, affecting especially the cerebellum, and the involvement of immune processes. En ligne : https://dx.doi.org/10.1186/s11689-025-09626-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Common and rare variant analyses implicate late-infancy cerebellar development and immune genes in ADHD [texte imprimé] / Yuanxin ZHONG, Auteur ; Larry W. BAUM, Auteur ; Justin D. TUBBS, Auteur ; Rui YE, Auteur ; Lu Hua CHEN, Auteur ; Tian WU, Auteur ; Se-fong HUNG, Auteur ; Chun-pan TANG, Auteur ; Ting-pong HO, Auteur ; Robert MOYZIS, Auteur ; James SWANSON, Auteur ; Chi-chiu LEE, Auteur ; Pak C. SHAM, Auteur ; Patrick W.L. LEUNG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Attention Deficit Disorder with  Hyperactivity/genetics/immunology/physiopathology  Cerebellum/growth & development/diagnostic imaging/physiopathology  Male  Female  Genome-Wide Association Study  Genetic Predisposition to Disease  Child  Magnetic Resonance Imaging  Hong Kong  Polymorphism, Single Nucleotide  Infant  Adhd  Cerebellum  Common variant  Immune response  Late-infancy  Low-frequency / rare variant  University of Hong Kong-New Territories East Cluster, the Hospital Authority  Kowloon Central and Kowloon West Cluster Clinical Research Ethics Committee  provided ethical approval for this study, which complies with the most recent  Declaration of Helsinki. All participants provided informed consent for the  current study. Consent for publication: Not applicable. Competing interests: The  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : OBJECTIVE: Attention-deficit hyperactivity disorder (ADHD) is a common neuropsychiatric disorder with a significant genetic component. The latest genome-wide association study (GWAS) meta-analysis of ADHD identified 27 whole-genome significant risk loci in the European population. However, genetic risk factors for ADHD are less well-characterized in the Asian population, especially for low-frequency / rare variants. METHODS: In this study, we aimed to investigate the contributions of both common and low-frequency / rare variants to ADHD in a Hong Kong sample. Our sample comprised 279 cases and 432 controls who underwent genotyping using the Illumina Infinium Global Screening Array. We employed various analytical methods at different levels, while also leveraging multi-omics data and large-scale summary statistics to comprehensively analyze the genetic basis of ADHD. RESULTS: We identified 41 potential genomic risk loci with a suggestive association (p < 1e(-4)), pointing to 111 candidate risk genes, which were enriched for genes differentially expressed during late infancy brain development. Furthermore, tissue enrichment analysis implicated the involvement of the cerebellum. At the polygenic level, we also discovered a strong genetic correlation with resting-state functional MRI connectivity of the cerebellum involved in the attention/central executive and subcortical-cerebellum networks. In addition, an accumulation of ADHD common-variant risks found in European ancestry samples was found to be significantly associated with ADHD in the current study. In low-frequency / rare variant analyses, we discovered the correlations between ADHD and collapsing effects of rare damaging variants in TEP1, MTMR10, DBH, TBCC, and ANO1. Based on biological and functional profiles of the potential risk genes and gene sets, both common and low-frequency / rare variant analyses demonstrated that ADHD genetic risk was associated with immune processes. CONCLUSIONS: These findings re-validate the abnormal development of the neural system in ADHD and extend the existing neuro-dysfunction hypothesis to a multi-system perspective. The current study identified convergent risk factors from common and low-frequency / rare variants, which implicates vulnerability in late-infancy brain development, affecting especially the cerebellum, and the involvement of immune processes. En ligne : https://dx.doi.org/10.1186/s11689-025-09626-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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

Moral foundations in autistic people and people with systemizing minds / Yeshaya David M. GREENBERG in Molecular Autism, 15 (2024)  

Public ISBD [article]  inMolecular Autism > 15 (2024) . - 20p. Titre : Moral foundations in autistic people and people with systemizing minds Type de document : texte imprimé Auteurs : Yeshaya David M. GREENBERG, Auteur ; Rosemary J. HOLT, Auteur ; Carrie ALLISON, Auteur ; Paula SMITH, Auteur ; Robbie NEWMAN, Auteur ; Theo BOARDMAN-PRETTY, Auteur ; Jonathan HAIDT, Auteur ; Simon BARON-COHEN, Auteur Article en page(s) : 20p. Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Autistic Disorder/psychology  Morals  Empathy  Adult  Young Adult  Surveys and Questionnaires  Adolescent  Middle Aged  Autism  Cognitive and affective empathy  Empathizing-systemizing theory  Empathy quotient  Libertarians  Moral foundations theory  Moral judgements  Political identification  Systemizing quotient  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Do autistic people share the same moral foundations as typical people? Here we built on two prominent theories in psychology, moral foundations theory and the empathizing-systemizing (E-S) theory, to observe the nature of morality in autistic people and systemizers. METHODS: In dataset 1, we measured five foundations of moral judgements (Care, Fairness, Loyalty, Authority, and Sanctity) measured by the Moral Foundations Questionnaire (MFQ) in autistic (n = 307) and typical people (n = 415) along with their scores on the Empathy Quotient (EQ) and Systemizing Quotient (SQ). In dataset 2, we measured these same five foundations along with E-S cognitive types (previously referred to as "brain types") in a large sample of typical people (N = 7595). RESULTS: Autistic people scored the same on Care (i.e., concern for others) as typical people (h1). Their affective empathy (but not their cognitive empathy) scores were positively correlated with Care. Autistic people were more likely to endorse Fairness (i.e., giving people what they are owed, and treating them with justice) over Care (h2). Their systemizing scores were positively correlated with Fairness. Autistic people or those with a systemizing cognitive profile had lower scores on binding foundations: Loyalty, Authority, and Sanctity (h3). Systemizing in typical people was positively correlated with Liberty (i.e., hypervigilance against oppression), which is a sixth moral foundation (h4). Although the majority of people in all five E-S cognitive types self-identified as liberal, with a skew towards empathizing (h5), the percentage of libertarians was highest in systemizing cognitive types (h6). E-S cognitive types accounted for 2 to 3 times more variance for Care than did sex. LIMITATIONS: Our study is limited by its reliance on self-report measures and a focus on moral judgements rather than behavior or decision-making. Further, only dataset 2 measured political identification, therefore we were unable to assess politics in autistic people. CONCLUSIONS: We conclude that some moral foundations in autistic people are similar to those in typical people (despite the difficulties in social interaction that are part of autism), and some are subtly different. These subtle differences vary depending on empathizing and systemizing cognitive types. En ligne : https://dx.doi.org/10.1186/s13229-024-00591-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538 [article] Moral foundations in autistic people and people with systemizing minds [texte imprimé] / Yeshaya David M. GREENBERG, Auteur ; Rosemary J. HOLT, Auteur ; Carrie ALLISON, Auteur ; Paula SMITH, Auteur ; Robbie NEWMAN, Auteur ; Theo BOARDMAN-PRETTY, Auteur ; Jonathan HAIDT, Auteur ; Simon BARON-COHEN, Auteur . - 20p. Langues : Anglais (eng) in Molecular Autism > 15 (2024) . - 20p. Mots-clés : Humans  Male  Female  Autistic Disorder/psychology  Morals  Empathy  Adult  Young Adult  Surveys and Questionnaires  Adolescent  Middle Aged  Autism  Cognitive and affective empathy  Empathizing-systemizing theory  Empathy quotient  Libertarians  Moral foundations theory  Moral judgements  Political identification  Systemizing quotient  authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Do autistic people share the same moral foundations as typical people? Here we built on two prominent theories in psychology, moral foundations theory and the empathizing-systemizing (E-S) theory, to observe the nature of morality in autistic people and systemizers. METHODS: In dataset 1, we measured five foundations of moral judgements (Care, Fairness, Loyalty, Authority, and Sanctity) measured by the Moral Foundations Questionnaire (MFQ) in autistic (n = 307) and typical people (n = 415) along with their scores on the Empathy Quotient (EQ) and Systemizing Quotient (SQ). In dataset 2, we measured these same five foundations along with E-S cognitive types (previously referred to as "brain types") in a large sample of typical people (N = 7595). RESULTS: Autistic people scored the same on Care (i.e., concern for others) as typical people (h1). Their affective empathy (but not their cognitive empathy) scores were positively correlated with Care. Autistic people were more likely to endorse Fairness (i.e., giving people what they are owed, and treating them with justice) over Care (h2). Their systemizing scores were positively correlated with Fairness. Autistic people or those with a systemizing cognitive profile had lower scores on binding foundations: Loyalty, Authority, and Sanctity (h3). Systemizing in typical people was positively correlated with Liberty (i.e., hypervigilance against oppression), which is a sixth moral foundation (h4). Although the majority of people in all five E-S cognitive types self-identified as liberal, with a skew towards empathizing (h5), the percentage of libertarians was highest in systemizing cognitive types (h6). E-S cognitive types accounted for 2 to 3 times more variance for Care than did sex. LIMITATIONS: Our study is limited by its reliance on self-report measures and a focus on moral judgements rather than behavior or decision-making. Further, only dataset 2 measured political identification, therefore we were unable to assess politics in autistic people. CONCLUSIONS: We conclude that some moral foundations in autistic people are similar to those in typical people (despite the difficulties in social interaction that are part of autism), and some are subtly different. These subtle differences vary depending on empathizing and systemizing cognitive types. En ligne : https://dx.doi.org/10.1186/s13229-024-00591-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

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Social orienting in prematurely born preschoolers: a case control study showing altered neural tuning towards voices, not faces / Rowena VAN DEN BROECK in Molecular Autism, 16 (2025)  

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Understanding cognitive flexibility in emotional evaluation in autistic males and females: the social context matters / Yoann BENNETOT-DEVERIA ; Monica BACIU ; Frédéric DUTHEIL ; Valentin MAGNON ; Marie GOMOT ; Martial MERMILLOD in Molecular Autism, 15 (2024)  

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