5 recherche sur le mot-clé 'Neurofibromatosis 1/complications'

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)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory Type de document : texte imprimé Auteurs : Samantha J. BOOTH, Auteur ; Shruti GARG, Auteur ; Laura J.E. BROWN, Auteur ; Jonathan GREEN, Auteur ; Gorana POBRIC, Auteur ; Jason R. TAYLOR, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Female  Humans  Cognition  Cognitive Dysfunction/etiology  Electroencephalography  Memory, Short-Term  Neurofibromatosis 1/complications  Male  Electroencephalography (EEG)  Neurofibromatosis type 1 (NF1)  Oscillations  Oscillatory power  Phase coherence  Working memory Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type 1 (NF1) is a genetic neurodevelopmental disorder commonly associated with impaired cognitive function. Despite the well-explored functional roles of neural oscillations in neurotypical populations, only a limited number of studies have investigated oscillatory activity in the NF1 population. METHODS: We compared oscillatory spectral power and theta phase coherence in a paediatric sample with NF1 (N = 16; mean age: 13.03 years; female: n = 7) to an age/sex-matched typically developing control group (N = 16; mean age: 13.34 years; female: n = 7) using electroencephalography measured during rest and during working memory task performance. RESULTS: Relative to typically developing children, the NF1 group displayed higher resting state slow wave power and a lower peak alpha frequency. Moreover, higher theta power and frontoparietal theta phase coherence were observed in the NF1 group during working memory task performance, but these differences disappeared when controlling for baseline (resting state) activity. CONCLUSIONS: Overall, results suggest that NF1 is characterised by aberrant resting state oscillatory activity that may contribute towards the cognitive impairments experienced in this population. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03310996 (first posted: October 16, 2017). En ligne : https://dx.doi.org/10.1186/s11689-023-09492-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory [texte imprimé] / Samantha J. BOOTH, Auteur ; Shruti GARG, Auteur ; Laura J.E. BROWN, Auteur ; Jonathan GREEN, Auteur ; Gorana POBRIC, Auteur ; Jason R. TAYLOR, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Adolescent  Female  Humans  Cognition  Cognitive Dysfunction/etiology  Electroencephalography  Memory, Short-Term  Neurofibromatosis 1/complications  Male  Electroencephalography (EEG)  Neurofibromatosis type 1 (NF1)  Oscillations  Oscillatory power  Phase coherence  Working memory Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type 1 (NF1) is a genetic neurodevelopmental disorder commonly associated with impaired cognitive function. Despite the well-explored functional roles of neural oscillations in neurotypical populations, only a limited number of studies have investigated oscillatory activity in the NF1 population. METHODS: We compared oscillatory spectral power and theta phase coherence in a paediatric sample with NF1 (N = 16; mean age: 13.03 years; female: n = 7) to an age/sex-matched typically developing control group (N = 16; mean age: 13.34 years; female: n = 7) using electroencephalography measured during rest and during working memory task performance. RESULTS: Relative to typically developing children, the NF1 group displayed higher resting state slow wave power and a lower peak alpha frequency. Moreover, higher theta power and frontoparietal theta phase coherence were observed in the NF1 group during working memory task performance, but these differences disappeared when controlling for baseline (resting state) activity. CONCLUSIONS: Overall, results suggest that NF1 is characterised by aberrant resting state oscillatory activity that may contribute towards the cognitive impairments experienced in this population. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03310996 (first posted: October 16, 2017). En ligne : https://dx.doi.org/10.1186/s11689-023-09492-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1 / Gorana POBRIC in Journal of Autism and Developmental Disorders, 52-4 (April 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-4 (April 2022) . - p.1478-1494 Titre : Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1 Type de document : texte imprimé Auteurs : Gorana POBRIC, Auteur ; Jason R. TAYLOR, Auteur ; Hemavathy M. RAMALINGAM, Auteur ; Emily PYE, Auteur ; Louise ROBINSON, Auteur ; Grace VASSALLO, Auteur ; JeYoung JUNG, Auteur ; Misty BHANDARY, Auteur ; Karolina SZUMANSKA-RYT, Auteur ; Louise THEODOSIOU, Auteur ; D. Gareth EVANS, Auteur ; Judith EELLOO, Auteur ; Emma BURKITT-WRIGHT, Auteur ; Johan HULLEMAN, Auteur ; Jonathan GREEN, Auteur ; Shruti GARG, Auteur Article en page(s) : p.1478-1494 Langues : Anglais (eng) Mots-clés : Adolescent  Autism Spectrum Disorder  Cognition  Evoked Potentials/physiology  Humans  Memory, Short-Term/physiology  Neurofibromatosis 1/complications  Eeg  N-back task  Neurofibromatosis 1  P300  Working memory Index. décimale : PER Périodiques Résumé : Neurofibromatosis 1 (NF1) is a single gene disorder associated with working Memory (WM) impairments. The aim of this study was to investigate P300 event-related potential (ERP) associated with WM in NF1. Sixteen adolescents with NF1 were compared with controls on measures of WM and EEG was recorded during a WM nback task. The NF1 group showed poorer performance on measures of WM as compared to the control group. No group differences were observed in P300 amplitude at Pz, but P300 latency was shorter in the NF1 group. Topographic analyses of P300 amplitude showed group differences indicating neural processing differences in the NF1 group relative to controls, which possibly contribute to the cognitive deficits seen in this population. En ligne : http://dx.doi.org/10.1007/s10803-021-05043-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475 [article] Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1 [texte imprimé] / Gorana POBRIC, Auteur ; Jason R. TAYLOR, Auteur ; Hemavathy M. RAMALINGAM, Auteur ; Emily PYE, Auteur ; Louise ROBINSON, Auteur ; Grace VASSALLO, Auteur ; JeYoung JUNG, Auteur ; Misty BHANDARY, Auteur ; Karolina SZUMANSKA-RYT, Auteur ; Louise THEODOSIOU, Auteur ; D. Gareth EVANS, Auteur ; Judith EELLOO, Auteur ; Emma BURKITT-WRIGHT, Auteur ; Johan HULLEMAN, Auteur ; Jonathan GREEN, Auteur ; Shruti GARG, Auteur . - p.1478-1494. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-4 (April 2022) . - p.1478-1494 Mots-clés : Adolescent  Autism Spectrum Disorder  Cognition  Evoked Potentials/physiology  Humans  Memory, Short-Term/physiology  Neurofibromatosis 1/complications  Eeg  N-back task  Neurofibromatosis 1  P300  Working memory Index. décimale : PER Périodiques Résumé : Neurofibromatosis 1 (NF1) is a single gene disorder associated with working Memory (WM) impairments. The aim of this study was to investigate P300 event-related potential (ERP) associated with WM in NF1. Sixteen adolescents with NF1 were compared with controls on measures of WM and EEG was recorded during a WM nback task. The NF1 group showed poorer performance on measures of WM as compared to the control group. No group differences were observed in P300 amplitude at Pz, but P300 latency was shorter in the NF1 group. Topographic analyses of P300 amplitude showed group differences indicating neural processing differences in the NF1 group relative to controls, which possibly contribute to the cognitive deficits seen in this population. En ligne : http://dx.doi.org/10.1007/s10803-021-05043-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475

Guanfacine treatment improves ADHD phenotypes of impulsivity and hyperactivity in a neurofibromatosis type 1 mouse model / J.L. LUKKES in Journal of Neurodevelopmental Disorders, 12 (2020)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 12 (2020) Titre : Guanfacine treatment improves ADHD phenotypes of impulsivity and hyperactivity in a neurofibromatosis type 1 mouse model Type de document : texte imprimé Auteurs : J.L. LUKKES, Auteur ; H.P. DROZD, Auteur ; S D. FITZ, Auteur ; A.I. MOLOSH, Auteur ; D.W. CLAPP, Auteur ; A. SHEKHAR, Auteur Langues : Anglais (eng) Mots-clés : Adrenergic alpha-2 Receptor Agonists/pharmacology/therapeutic use  Animals  Attention Deficit Disorder with Hyperactivity/drug therapy  Disease Models, Animal  Guanfacine/pharmacology/therapeutic use  Impulsive Behavior/drug effects  Inhibition, Psychological  Male  Mice  Neurofibromatosis 1/complications  Phenotype  Reward  Adhd  Alpha 2A-adrenergic receptor agonist  Behavioral inhibition  Cliff avoidance reaction test  Delay discounting  Guanfacine  Hyperactivity  Impulsivity  Mouse  Neurofibromatosis type 1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a mutation in one copy of the neurofibromin gene (NF1(+/-)). Even though approximately 40-60% of children with NF1 meet the criteria for attention deficit hyperactivity disorder (ADHD), very few preclinical studies, if any, have investigated alterations in impulsivity and risk-taking behavior. Mice with deletion of a single NF1 gene (Nf1(+/-)) recapitulate many of the phenotypes of NF1 patients. METHODS: We compared wild-type (WT) and Nf1(+/-) mouse strains to investigate differences in impulsivity and hyperactivity using the delay discounting task (DDT), cliff avoidance reaction (CAR) test, and open field. We also investigated whether treatment with the clinically effective alpha-2A adrenergic receptor agonist, guanfacine (0.3 mg/kg, i.p.), would reverse deficits observed in behavioral inhibition. RESULTS: Nf1(+/-) mice chose a higher percentage of smaller rewards when both 10- and 20-s delays were administered compared to WT mice, suggesting Nf1(+/-) mice are more impulsive. When treated with guanfacine (0.3 mg/kg, i.p.), Nf1(+/-) mice exhibited decreased impulsive choice by waiting for the larger, delayed reward. Nf1(+/-) mice also exhibited deficits in behavioral inhibition compared to WT mice in the CAR test by repetitively entering the outer edge of the platform where they risk falling. Treatment with guanfacine ameliorated these deficits. In addition, Nf1(+/-) mice exhibited hyperactivity as increased distance was traveled compared to WT controls in the open field. This hyperactivity in Nf1(+/-) mice was reduced with guanfacine pre-treatment. CONCLUSIONS: Overall, our study confirms that Nf1(+/-) mice exhibit deficits in behavioral inhibition in multiple contexts, a key feature of ADHD, and can be used as a model system to identify alterations in neural circuitry associated with symptoms of ADHD in children with NF1. En ligne : https://dx.doi.org/10.1186/s11689-019-9304-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Guanfacine treatment improves ADHD phenotypes of impulsivity and hyperactivity in a neurofibromatosis type 1 mouse model [texte imprimé] / J.L. LUKKES, Auteur ; H.P. DROZD, Auteur ; S D. FITZ, Auteur ; A.I. MOLOSH, Auteur ; D.W. CLAPP, Auteur ; A. SHEKHAR, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 12 (2020) Mots-clés : Adrenergic alpha-2 Receptor Agonists/pharmacology/therapeutic use  Animals  Attention Deficit Disorder with Hyperactivity/drug therapy  Disease Models, Animal  Guanfacine/pharmacology/therapeutic use  Impulsive Behavior/drug effects  Inhibition, Psychological  Male  Mice  Neurofibromatosis 1/complications  Phenotype  Reward  Adhd  Alpha 2A-adrenergic receptor agonist  Behavioral inhibition  Cliff avoidance reaction test  Delay discounting  Guanfacine  Hyperactivity  Impulsivity  Mouse  Neurofibromatosis type 1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a mutation in one copy of the neurofibromin gene (NF1(+/-)). Even though approximately 40-60% of children with NF1 meet the criteria for attention deficit hyperactivity disorder (ADHD), very few preclinical studies, if any, have investigated alterations in impulsivity and risk-taking behavior. Mice with deletion of a single NF1 gene (Nf1(+/-)) recapitulate many of the phenotypes of NF1 patients. METHODS: We compared wild-type (WT) and Nf1(+/-) mouse strains to investigate differences in impulsivity and hyperactivity using the delay discounting task (DDT), cliff avoidance reaction (CAR) test, and open field. We also investigated whether treatment with the clinically effective alpha-2A adrenergic receptor agonist, guanfacine (0.3 mg/kg, i.p.), would reverse deficits observed in behavioral inhibition. RESULTS: Nf1(+/-) mice chose a higher percentage of smaller rewards when both 10- and 20-s delays were administered compared to WT mice, suggesting Nf1(+/-) mice are more impulsive. When treated with guanfacine (0.3 mg/kg, i.p.), Nf1(+/-) mice exhibited decreased impulsive choice by waiting for the larger, delayed reward. Nf1(+/-) mice also exhibited deficits in behavioral inhibition compared to WT mice in the CAR test by repetitively entering the outer edge of the platform where they risk falling. Treatment with guanfacine ameliorated these deficits. In addition, Nf1(+/-) mice exhibited hyperactivity as increased distance was traveled compared to WT controls in the open field. This hyperactivity in Nf1(+/-) mice was reduced with guanfacine pre-treatment. CONCLUSIONS: Overall, our study confirms that Nf1(+/-) mice exhibit deficits in behavioral inhibition in multiple contexts, a key feature of ADHD, and can be used as a model system to identify alterations in neural circuitry associated with symptoms of ADHD in children with NF1. En ligne : https://dx.doi.org/10.1186/s11689-019-9304-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Steady-state visual evoked potentials in children with neurofibromatosis type 1: associations with behavioral rating scales and impact of psychostimulant medication / Eve LALANCETTE in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Steady-state visual evoked potentials in children with neurofibromatosis type 1: associations with behavioral rating scales and impact of psychostimulant medication Type de document : texte imprimé Auteurs : Eve LALANCETTE, Auteur ; Audrey-Rose CHARLEBOIS-POIRIER, Auteur ; Kristian AGBOGBA, Auteur ; Inga Sophia KNOTH, Auteur ; Emily J.H. JONES, Auteur ; Luke MASON, Auteur ; Sébastien PERREAULT, Auteur ; Sarah LIPPE, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Behavior Rating Scale  Child  Child, Preschool  Electroencephalography  Evoked Potentials, Visual  Humans  Neurofibromatosis 1/complications  Photic Stimulation  Inattention symptoms  Neurofibromatosis type 1  Psychostimulant medication  Steady-state visual evoked potentials Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type 1 (NF1) is a genetic disorder often associated with cognitive dysfunctions, including a high occurrence of deficits in visuoperceptual skills. The neural underpinnings of these visuoperceptual deficits are not fully understood. We used steady-state visual evoked potentials (SSVEPs) to investigate possible alterations in the synchronization of neural activity in the occipital cortex of children with NF1. METHODS: SSVEPs were measured using electroencephalography and compared between children with NF1 (n = 28) and neurotypical controls (n = 28) aged between 4 and 13 years old. SSVEPs were recorded during visual stimulation with coloured icons flickering at three different frequencies (6 Hz, 10 Hz, and 15 Hz) and analyzed in terms of signal-to-noise ratios. A mixed design ANCOVA was performed to compare SSVEP responses between groups at the three stimulation frequencies. Pearson's correlations with levels of intellectual functioning as well as with symptoms of ADHD, ASD and emotional/behavioral problems were performed. The impact of psychostimulant medication on the SSVEP responses was analyzed in a subset of the NF1 group (n = 8) with paired t-tests. RESULTS: We observed reduced signal-to-noise ratios of the SSVEP responses in children with NF1. The SSVEP responses were negatively correlated with symptoms of inattention and with symptoms of emotional/behavioral problems in the NF1 group. The SSVEP response generated by the lowest stimulation frequency (i.e., 6 Hz) was rescued with the intake of psychostimulant medication. CONCLUSIONS: Impaired processing of rhythmic visual stimulation was evidenced in children with NF1 through measures of SSVEP responses. Those responses seem to be more reduced in children with NF1 who exhibit more symptoms of inattention and emotional/behavioral problems in their daily life. SSVEPs are potentially sensitive electrophysiological markers that could be included in future studies investigating the impact of medication on brain activity and cognitive functioning in children with NF1. En ligne : https://dx.doi.org/10.1186/s11689-022-09452-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Steady-state visual evoked potentials in children with neurofibromatosis type 1: associations with behavioral rating scales and impact of psychostimulant medication [texte imprimé] / Eve LALANCETTE, Auteur ; Audrey-Rose CHARLEBOIS-POIRIER, Auteur ; Kristian AGBOGBA, Auteur ; Inga Sophia KNOTH, Auteur ; Emily J.H. JONES, Auteur ; Luke MASON, Auteur ; Sébastien PERREAULT, Auteur ; Sarah LIPPE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Adolescent  Behavior Rating Scale  Child  Child, Preschool  Electroencephalography  Evoked Potentials, Visual  Humans  Neurofibromatosis 1/complications  Photic Stimulation  Inattention symptoms  Neurofibromatosis type 1  Psychostimulant medication  Steady-state visual evoked potentials Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type 1 (NF1) is a genetic disorder often associated with cognitive dysfunctions, including a high occurrence of deficits in visuoperceptual skills. The neural underpinnings of these visuoperceptual deficits are not fully understood. We used steady-state visual evoked potentials (SSVEPs) to investigate possible alterations in the synchronization of neural activity in the occipital cortex of children with NF1. METHODS: SSVEPs were measured using electroencephalography and compared between children with NF1 (n = 28) and neurotypical controls (n = 28) aged between 4 and 13 years old. SSVEPs were recorded during visual stimulation with coloured icons flickering at three different frequencies (6 Hz, 10 Hz, and 15 Hz) and analyzed in terms of signal-to-noise ratios. A mixed design ANCOVA was performed to compare SSVEP responses between groups at the three stimulation frequencies. Pearson's correlations with levels of intellectual functioning as well as with symptoms of ADHD, ASD and emotional/behavioral problems were performed. The impact of psychostimulant medication on the SSVEP responses was analyzed in a subset of the NF1 group (n = 8) with paired t-tests. RESULTS: We observed reduced signal-to-noise ratios of the SSVEP responses in children with NF1. The SSVEP responses were negatively correlated with symptoms of inattention and with symptoms of emotional/behavioral problems in the NF1 group. The SSVEP response generated by the lowest stimulation frequency (i.e., 6 Hz) was rescued with the intake of psychostimulant medication. CONCLUSIONS: Impaired processing of rhythmic visual stimulation was evidenced in children with NF1 through measures of SSVEP responses. Those responses seem to be more reduced in children with NF1 who exhibit more symptoms of inattention and emotional/behavioral problems in their daily life. SSVEPs are potentially sensitive electrophysiological markers that could be included in future studies investigating the impact of medication on brain activity and cognitive functioning in children with NF1. En ligne : https://dx.doi.org/10.1186/s11689-022-09452-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Atypical connectivity in the cortico-striatal network in NF1 children and its relationship with procedural perceptual-motor learning and motor skills / Eloïse BAUDOU in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Atypical connectivity in the cortico-striatal network in NF1 children and its relationship with procedural perceptual-motor learning and motor skills Type de document : texte imprimé Auteurs : Eloïse BAUDOU, Auteur ; Federico NEMMI, Auteur ; Patrice PERAN, Auteur ; Fabien CIGNETTI, Auteur ; Melody BLAIS, Auteur ; Stéphanie MAZIERO, Auteur ; Jessica TALLET, Auteur ; Yves CHAIX, Auteur Langues : Anglais (eng) Mots-clés : Child  Corpus Striatum  Humans  Learning  Magnetic Resonance Imaging  Motor Skills  Neurofibromatosis 1/complications  Cortico-striatal connectivity  Neurodevelopmental disorder  Neurofibromatosis type 1  Procedural memory  Resting-state MRI  Serial reaction time task Index. décimale : PER Périodiques Résumé : INTRODUCTION: Neurofibromatosis type 1 (NF1) is considered a model of neurodevelopmental disorder because of the high frequency of learning deficits, especially developmental coordination disorder. In neurodevelopmental disorder, Nicolson and Fawcett formulated the hypothesis of an impaired procedural learning system that has its origins in cortico-subcortical circuits. Our aim was to investigate the relationship between cortico-striatal connectivity and procedural perceptual-motor learning performance and motor skills in NF1 children. METHODS: Seventeen NF1 and 18 typically developing children aged between 8 and 12 years old participated in the study. All were right-handed and did not present intellectual or attention deficits. In all children, procedural perceptual-motor learning was assessed using a bimanual visuo-spatial serial reaction time task (SRTT) and motor skills using the Movement Assessment Battery for Children (M-ABC). All participants underwent a resting-state functional MRI session. We used a seed-based approach to explore cortico-striatal connectivity in somatomotor and frontoparietal networks. A comparison between the groups' striato-cortical connectivity and correlations between connectivity and learning (SRTT) and motor skills (M-ABC) were performed. RESULTS: At the behavioral level, SRTT scores are not significantly different in NF1 children compared to controls. However, M-ABC scores are significantly impaired within 9 patients (scores below the 15th percentile). At the cerebral level, NF1 children present a higher connectivity in the cortico-striatal regions mapping onto the right angular gyrus compared to controls. We found that the higher the connectivity values between these regions, differentiating NF1 and controls, the lower the M-ABC scores in the whole sample. No correlation was found for the SRTT scores. CONCLUSION: NF1 children present atypical hyperconnectivity in cortico-striatal connections. The relationship with motor skills could suggest a sensorimotor dysfunction already found in children with developmental coordination disorder. These abnormalities are not linked to procedural perceptual-motor learning assessed by SRTT. En ligne : https://dx.doi.org/10.1186/s11689-022-09428-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Atypical connectivity in the cortico-striatal network in NF1 children and its relationship with procedural perceptual-motor learning and motor skills [texte imprimé] / Eloïse BAUDOU, Auteur ; Federico NEMMI, Auteur ; Patrice PERAN, Auteur ; Fabien CIGNETTI, Auteur ; Melody BLAIS, Auteur ; Stéphanie MAZIERO, Auteur ; Jessica TALLET, Auteur ; Yves CHAIX, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Child  Corpus Striatum  Humans  Learning  Magnetic Resonance Imaging  Motor Skills  Neurofibromatosis 1/complications  Cortico-striatal connectivity  Neurodevelopmental disorder  Neurofibromatosis type 1  Procedural memory  Resting-state MRI  Serial reaction time task Index. décimale : PER Périodiques Résumé : INTRODUCTION: Neurofibromatosis type 1 (NF1) is considered a model of neurodevelopmental disorder because of the high frequency of learning deficits, especially developmental coordination disorder. In neurodevelopmental disorder, Nicolson and Fawcett formulated the hypothesis of an impaired procedural learning system that has its origins in cortico-subcortical circuits. Our aim was to investigate the relationship between cortico-striatal connectivity and procedural perceptual-motor learning performance and motor skills in NF1 children. METHODS: Seventeen NF1 and 18 typically developing children aged between 8 and 12 years old participated in the study. All were right-handed and did not present intellectual or attention deficits. In all children, procedural perceptual-motor learning was assessed using a bimanual visuo-spatial serial reaction time task (SRTT) and motor skills using the Movement Assessment Battery for Children (M-ABC). All participants underwent a resting-state functional MRI session. We used a seed-based approach to explore cortico-striatal connectivity in somatomotor and frontoparietal networks. A comparison between the groups' striato-cortical connectivity and correlations between connectivity and learning (SRTT) and motor skills (M-ABC) were performed. RESULTS: At the behavioral level, SRTT scores are not significantly different in NF1 children compared to controls. However, M-ABC scores are significantly impaired within 9 patients (scores below the 15th percentile). At the cerebral level, NF1 children present a higher connectivity in the cortico-striatal regions mapping onto the right angular gyrus compared to controls. We found that the higher the connectivity values between these regions, differentiating NF1 and controls, the lower the M-ABC scores in the whole sample. No correlation was found for the SRTT scores. CONCLUSION: NF1 children present atypical hyperconnectivity in cortico-striatal connections. The relationship with motor skills could suggest a sensorimotor dysfunction already found in children with developmental coordination disorder. These abnormalities are not linked to procedural perceptual-motor learning assessed by SRTT. En ligne : https://dx.doi.org/10.1186/s11689-022-09428-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574