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Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1) / S. EIJK in Journal of Autism and Developmental Disorders, 48-7 (July 2018)
[article]
Titre : Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1) Type de document : Texte imprimé et/ou numérique Auteurs : S. EIJK, Auteur ; S. E. MOUS, Auteur ; G. C. DIELEMAN, Auteur ; Bram DIERCKX, Auteur ; A. B. RIETMAN, Auteur ; P. F. A. DE NIJS, Auteur ; L. W. TEN HOOPEN, Auteur ; R. VAN MINKELEN, Auteur ; Y. ELGERSMA, Auteur ; Coriene E. CATSMAN-BERREVOETS, Auteur ; R. OOSTENBRINK, Auteur ; J. S. LEGERSTEE, Auteur Article en page(s) : p.2278-2285 Langues : Anglais (eng) Mots-clés : Autism diagnostic observation schedule Autism spectrum disorder Autistic traits Neurofibromatosis type 1 Prevalence Social responsiveness scale Index. décimale : PER Périodiques Résumé : In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)-and questionnaire-based screening instrument were assessed. Complete data was available for 128 children. The prevalence rate for clinical ASD was 10.9%, which is clearly higher than in the general population. This prevalence rate is presumably more accurate than in previous studies that examined children with NF1 with an ASD presumption or solely based on screening instruments. The combined observational- and screening based classifications demonstrated the highest positive predictive value for DSM-IV diagnosis, highlighting the importance of using both instruments in children with NF1. En ligne : http://dx.doi.org/10.1007/s10803-018-3478-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367
in Journal of Autism and Developmental Disorders > 48-7 (July 2018) . - p.2278-2285[article] Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1) [Texte imprimé et/ou numérique] / S. EIJK, Auteur ; S. E. MOUS, Auteur ; G. C. DIELEMAN, Auteur ; Bram DIERCKX, Auteur ; A. B. RIETMAN, Auteur ; P. F. A. DE NIJS, Auteur ; L. W. TEN HOOPEN, Auteur ; R. VAN MINKELEN, Auteur ; Y. ELGERSMA, Auteur ; Coriene E. CATSMAN-BERREVOETS, Auteur ; R. OOSTENBRINK, Auteur ; J. S. LEGERSTEE, Auteur . - p.2278-2285.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 48-7 (July 2018) . - p.2278-2285
Mots-clés : Autism diagnostic observation schedule Autism spectrum disorder Autistic traits Neurofibromatosis type 1 Prevalence Social responsiveness scale Index. décimale : PER Périodiques Résumé : In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)-and questionnaire-based screening instrument were assessed. Complete data was available for 128 children. The prevalence rate for clinical ASD was 10.9%, which is clearly higher than in the general population. This prevalence rate is presumably more accurate than in previous studies that examined children with NF1 with an ASD presumption or solely based on screening instruments. The combined observational- and screening based classifications demonstrated the highest positive predictive value for DSM-IV diagnosis, highlighting the importance of using both instruments in children with NF1. En ligne : http://dx.doi.org/10.1007/s10803-018-3478-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367 Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms / S. C. HUIJBREGTS in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)
[article]
Titre : Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms Type de document : Texte imprimé et/ou numérique Auteurs : S. C. HUIJBREGTS, Auteur ; M. LOITFELDER, Auteur ; S. A. ROMBOUTS, Auteur ; H. SWAAB, Auteur ; B. M. VERBIST, Auteur ; E. B. ARKINK, Auteur ; M. A. VAN BUCHEM, Auteur ; I. M. VEER, Auteur Article en page(s) : p.32 Langues : Anglais (eng) Mots-clés : Executive and social functioning Gray matter Magnetic resonance imaging Neurofibromatosis type 1 Subcortical volume Voxel-based morphometry Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type 1 (NF1) is a single-gene neurodevelopmental disorder, in which social and cognitive problems are highly prevalent. Several commonly observed central nervous system (CNS) abnormalities in NF1 might underlie these social and cognitive problems. Cerebral volumetric abnormalities are among the most consistently observed CNS abnormalities in NF1. This study investigated whether differences were present between NF1 patients and healthy controls (HC) in volumetric measures of cortical and subcortical brain regions and whether differential associations existed for NF1 patients and HC between the volumetric measures and parent ratings of social skills, attention problems, social problems, autistic mannerisms, and executive dysfunction. METHODS: Fifteen NF1 patients (mean age 12.9 years, SD 2.6) and 18 healthy controls (HC, mean age 13.8 years, SD 3.6) underwent 3 T MRI scanning. Segmentation of cortical gray and white matter, as well as volumetry of subcortical nuclei, was carried out. Voxel-based morphometry was performed to assess cortical gray matter density. Correlations were calculated, for NF1-patients and HC separately, between MRI parameters and scores on selected dimensions of the following behavior rating scales: the Social Skills Rating System, the Child Behavior Checklist, the Social Responsiveness Scale, the Behavior Rating Inventory of Executive Functioning, and the Dysexecutive Questionnaire. RESULTS: After correction for age, sex, and intracranial volume, larger volumes of all subcortical regions were found in NF1 patients compared to controls. Patients further showed decreased gray matter density in midline regions of the frontal and parietal lobes and larger total white matter volume. Significantly more social and attention problems, more autistic mannerisms, and poorer executive functioning were reported for NF1 patients compared to HC. In NF1 patients, larger left putamen volume and larger total white matter volume were associated with more social problems and poorer executive functioning, larger right amygdala volume with poorer executive functioning and autistic mannerisms, and smaller precentral gyrus gray matter density was associated with more social problems. In controls, only significant negative correlations were observed: larger volumes (and greater gray matter density) were associated with better outcomes. CONCLUSIONS: Widespread volumetric differences between patients and controls were found in cortical and subcortical brain regions. In NF1 patients but not HC, larger volumes were associated with poorer behavior ratings. En ligne : http://dx.doi.org/10.1186/s11689-015-9128-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.32[article] Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms [Texte imprimé et/ou numérique] / S. C. HUIJBREGTS, Auteur ; M. LOITFELDER, Auteur ; S. A. ROMBOUTS, Auteur ; H. SWAAB, Auteur ; B. M. VERBIST, Auteur ; E. B. ARKINK, Auteur ; M. A. VAN BUCHEM, Auteur ; I. M. VEER, Auteur . - p.32.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.32
Mots-clés : Executive and social functioning Gray matter Magnetic resonance imaging Neurofibromatosis type 1 Subcortical volume Voxel-based morphometry Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type 1 (NF1) is a single-gene neurodevelopmental disorder, in which social and cognitive problems are highly prevalent. Several commonly observed central nervous system (CNS) abnormalities in NF1 might underlie these social and cognitive problems. Cerebral volumetric abnormalities are among the most consistently observed CNS abnormalities in NF1. This study investigated whether differences were present between NF1 patients and healthy controls (HC) in volumetric measures of cortical and subcortical brain regions and whether differential associations existed for NF1 patients and HC between the volumetric measures and parent ratings of social skills, attention problems, social problems, autistic mannerisms, and executive dysfunction. METHODS: Fifteen NF1 patients (mean age 12.9 years, SD 2.6) and 18 healthy controls (HC, mean age 13.8 years, SD 3.6) underwent 3 T MRI scanning. Segmentation of cortical gray and white matter, as well as volumetry of subcortical nuclei, was carried out. Voxel-based morphometry was performed to assess cortical gray matter density. Correlations were calculated, for NF1-patients and HC separately, between MRI parameters and scores on selected dimensions of the following behavior rating scales: the Social Skills Rating System, the Child Behavior Checklist, the Social Responsiveness Scale, the Behavior Rating Inventory of Executive Functioning, and the Dysexecutive Questionnaire. RESULTS: After correction for age, sex, and intracranial volume, larger volumes of all subcortical regions were found in NF1 patients compared to controls. Patients further showed decreased gray matter density in midline regions of the frontal and parietal lobes and larger total white matter volume. Significantly more social and attention problems, more autistic mannerisms, and poorer executive functioning were reported for NF1 patients compared to HC. In NF1 patients, larger left putamen volume and larger total white matter volume were associated with more social problems and poorer executive functioning, larger right amygdala volume with poorer executive functioning and autistic mannerisms, and smaller precentral gyrus gray matter density was associated with more social problems. In controls, only significant negative correlations were observed: larger volumes (and greater gray matter density) were associated with better outcomes. CONCLUSIONS: Widespread volumetric differences between patients and controls were found in cortical and subcortical brain regions. In NF1 patients but not HC, larger volumes were associated with poorer behavior ratings. En ligne : http://dx.doi.org/10.1186/s11689-015-9128-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 Delineating the autistic phenotype in children with neurofibromatosis type 1 / A. K. CHISHOLM in Molecular Autism, 13 (2022)
[article]
Titre : Delineating the autistic phenotype in children with neurofibromatosis type 1 Type de document : Texte imprimé et/ou numérique Auteurs : A. K. CHISHOLM, Auteur ; K. M. HAEBICH, Auteur ; N. A. PRIDE, Auteur ; K. S. WALSH, Auteur ; F. LAMI, Auteur ; A. URE, Auteur ; T. MALOOF, Auteur ; Amanda BRIGNELL, Auteur ; M. ROUEL, Auteur ; Y. GRANADER, Auteur ; A. MAIER, Auteur ; B. BARTON, Auteur ; H. DARKE, Auteur ; G. DABSCHECK, Auteur ; V. A. ANDERSON, Auteur ; K. WILLIAMS, Auteur ; K. N. NORTH, Auteur ; J. M. PAYNE, Auteur Article en page(s) : 3p. Langues : Anglais (eng) Mots-clés : Autism Autism Diagnostic Interview-Revised (ADI-R) Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) Autistic behaviours Neurofibromatosis type 1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this gap, we performed detailed characterisation of autistic behaviours in children with NF1 and investigated their association with other common NF1 child characteristics. METHODS: Participants were drawn from a larger cross-sectional study examining autism in children with NF1. The population analysed in this study scored above threshold on the Social Responsiveness Scale-Second Edition (T-score???60; 51% larger cohort) and completed the Autism Diagnostic Interview-Revised (ADI-R) and/or the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). All participants underwent evaluation of their intellectual function, and behavioural data were collected via parent questionnaires. RESULTS: The study cohort comprised 68 children (3-15 years). Sixty-three per cent met the ADOS-2 'autism spectrum' cut-off, and 34% exceeded the more stringent threshold for 'autistic disorder' on the ADI-R. Social communication symptoms were common and wide-ranging, while restricted and repetitive behaviours (RRBs) were most commonly characterised by 'insistence on sameness' (IS) behaviours such as circumscribed interests and difficulties with minor changes. Autistic behaviours were weakly correlated with hyperactive/impulsive attention deficit hyperactivity disorder (ADHD) symptoms but not with inattentive ADHD or other behavioural characteristics. Language and verbal IQ were weakly related to social communication behaviours but not to RRBs. LIMITATIONS: Lack of genetic validation of NF1, no clinical diagnosis of autism, and a retrospective assessment of autistic behaviours in early childhood. CONCLUSIONS: Findings provide strong support for elevated autistic behaviours in children with NF1. While these behaviours were relatively independent of other NF1 comorbidities, the importance of taking broader child characteristics into consideration when interpreting data from autism-specific measures in this population is highlighted. Social communication deficits appear similar to those observed in idiopathic autism and are coupled with a unique RRB profile comprising prominent IS behaviours. This autistic phenotype and its relationship to common NF1 comorbidities such as anxiety and executive dysfunction will be important to examine in future research. Current findings have important implications for the early identification of autism in NF1 and clinical management. En ligne : http://dx.doi.org/10.1186/s13229-021-00481-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459
in Molecular Autism > 13 (2022) . - 3p.[article] Delineating the autistic phenotype in children with neurofibromatosis type 1 [Texte imprimé et/ou numérique] / A. K. CHISHOLM, Auteur ; K. M. HAEBICH, Auteur ; N. A. PRIDE, Auteur ; K. S. WALSH, Auteur ; F. LAMI, Auteur ; A. URE, Auteur ; T. MALOOF, Auteur ; Amanda BRIGNELL, Auteur ; M. ROUEL, Auteur ; Y. GRANADER, Auteur ; A. MAIER, Auteur ; B. BARTON, Auteur ; H. DARKE, Auteur ; G. DABSCHECK, Auteur ; V. A. ANDERSON, Auteur ; K. WILLIAMS, Auteur ; K. N. NORTH, Auteur ; J. M. PAYNE, Auteur . - 3p.
Langues : Anglais (eng)
in Molecular Autism > 13 (2022) . - 3p.
Mots-clés : Autism Autism Diagnostic Interview-Revised (ADI-R) Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) Autistic behaviours Neurofibromatosis type 1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this gap, we performed detailed characterisation of autistic behaviours in children with NF1 and investigated their association with other common NF1 child characteristics. METHODS: Participants were drawn from a larger cross-sectional study examining autism in children with NF1. The population analysed in this study scored above threshold on the Social Responsiveness Scale-Second Edition (T-score???60; 51% larger cohort) and completed the Autism Diagnostic Interview-Revised (ADI-R) and/or the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). All participants underwent evaluation of their intellectual function, and behavioural data were collected via parent questionnaires. RESULTS: The study cohort comprised 68 children (3-15 years). Sixty-three per cent met the ADOS-2 'autism spectrum' cut-off, and 34% exceeded the more stringent threshold for 'autistic disorder' on the ADI-R. Social communication symptoms were common and wide-ranging, while restricted and repetitive behaviours (RRBs) were most commonly characterised by 'insistence on sameness' (IS) behaviours such as circumscribed interests and difficulties with minor changes. Autistic behaviours were weakly correlated with hyperactive/impulsive attention deficit hyperactivity disorder (ADHD) symptoms but not with inattentive ADHD or other behavioural characteristics. Language and verbal IQ were weakly related to social communication behaviours but not to RRBs. LIMITATIONS: Lack of genetic validation of NF1, no clinical diagnosis of autism, and a retrospective assessment of autistic behaviours in early childhood. CONCLUSIONS: Findings provide strong support for elevated autistic behaviours in children with NF1. While these behaviours were relatively independent of other NF1 comorbidities, the importance of taking broader child characteristics into consideration when interpreting data from autism-specific measures in this population is highlighted. Social communication deficits appear similar to those observed in idiopathic autism and are coupled with a unique RRB profile comprising prominent IS behaviours. This autistic phenotype and its relationship to common NF1 comorbidities such as anxiety and executive dysfunction will be important to examine in future research. Current findings have important implications for the early identification of autism in NF1 and clinical management. En ligne : http://dx.doi.org/10.1186/s13229-021-00481-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 Motor problems in children with neurofibromatosis type 1 / A. B. RIETMAN in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Motor problems in children with neurofibromatosis type 1 Type de document : Texte imprimé et/ou numérique Auteurs : A. B. RIETMAN, Auteur ; R. OOSTENBRINK, Auteur ; S. BONGERS, Auteur ; E. GAUKEMA, Auteur ; S. VAN ABEELEN, Auteur ; J. G. HENDRIKSEN, Auteur ; C. W. N. LOOMAN, Auteur ; P. F. A. DE NIJS, Auteur ; M. C. DE WIT, Auteur Article en page(s) : p.19 Langues : Anglais (eng) Mots-clés : Dcd Emotional and behavioural problems Intelligence Motor problems Neurofibromatosis type 1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. The aim of this cross-sectional observational study was to describe the severity of motor problems in children with NF1 and to explore the predictive value of demographics, intelligence, and behavioural problems. METHODS: From 2002 to 2014, 69 children with NF1, aged 4 to 16 years (age = 9.5 +/- 2.8 years; 29 girls) had a motor, psychological, and neurological evaluation in an NF1 expertise centre. Data were collected about (1) motor performance (M-ABC: Movement Assessment Battery for Children), (2) intelligence, and (3) emotional and behavioural problems as rated by parents. RESULTS: Sixty-one percent of these children scored within the clinical range of the M-ABC. In ordinal logistic regression analyses, motor problems were associated with symptoms of attention-deficit/hyperactivity disorder (ADHD), symptoms of autism spectrum disorder (ASD), and externalising behavioural problems. Motor outcome was not predicted by age, intelligence, scoliosis, hypotonia, nor hypermobility. CONCLUSIONS: Motor problems are among the most common comorbid developmental problems in children with NF1, and these problems do not diminish with age. Because of their impact on daily functioning, motor problems need to be specifically addressed in diagnosis, follow-up, and treatment of NF1. En ligne : http://dx.doi.org/10.1186/s11689-017-9198-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.19[article] Motor problems in children with neurofibromatosis type 1 [Texte imprimé et/ou numérique] / A. B. RIETMAN, Auteur ; R. OOSTENBRINK, Auteur ; S. BONGERS, Auteur ; E. GAUKEMA, Auteur ; S. VAN ABEELEN, Auteur ; J. G. HENDRIKSEN, Auteur ; C. W. N. LOOMAN, Auteur ; P. F. A. DE NIJS, Auteur ; M. C. DE WIT, Auteur . - p.19.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.19
Mots-clés : Dcd Emotional and behavioural problems Intelligence Motor problems Neurofibromatosis type 1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. The aim of this cross-sectional observational study was to describe the severity of motor problems in children with NF1 and to explore the predictive value of demographics, intelligence, and behavioural problems. METHODS: From 2002 to 2014, 69 children with NF1, aged 4 to 16 years (age = 9.5 +/- 2.8 years; 29 girls) had a motor, psychological, and neurological evaluation in an NF1 expertise centre. Data were collected about (1) motor performance (M-ABC: Movement Assessment Battery for Children), (2) intelligence, and (3) emotional and behavioural problems as rated by parents. RESULTS: Sixty-one percent of these children scored within the clinical range of the M-ABC. In ordinal logistic regression analyses, motor problems were associated with symptoms of attention-deficit/hyperactivity disorder (ADHD), symptoms of autism spectrum disorder (ASD), and externalising behavioural problems. Motor outcome was not predicted by age, intelligence, scoliosis, hypotonia, nor hypermobility. CONCLUSIONS: Motor problems are among the most common comorbid developmental problems in children with NF1, and these problems do not diminish with age. Because of their impact on daily functioning, motor problems need to be specifically addressed in diagnosis, follow-up, and treatment of NF1. En ligne : http://dx.doi.org/10.1186/s11689-017-9198-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 Oscillatory motor patterning is impaired in neurofibromatosis type 1: a behavioural, EEG and fMRI study / G. SILVA in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
[article]
Titre : Oscillatory motor patterning is impaired in neurofibromatosis type 1: a behavioural, EEG and fMRI study Type de document : Texte imprimé et/ou numérique Auteurs : G. SILVA, Auteur ; I. C. DUARTE, Auteur ; I. BERNARDINO, Auteur ; T. MARQUES, Auteur ; I. R. VIOLANTE, Auteur ; Miguel CASTELO-BRANCO, Auteur Article en page(s) : p.11 Langues : Anglais (eng) Mots-clés : Eeg Inhibition Motor coordination Neurofibromatosis type 1 fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type1 (NF1) is associated with a broad range of behavioural deficits, and an imbalance between excitatory and inhibitory neurotransmission has been postulated in this disorder. Inhibition is involved in the control of frequency and stability of motor rhythms. Therefore, we aimed to explore the link between behavioural motor control, brain rhythms and brain activity, as assessed by EEG and fMRI in NF1. METHODS: We studied a cohort of 21 participants with NF1 and 20 age- and gender-matched healthy controls, with a finger-tapping task requiring pacing at distinct frequencies during EEG and fMRI scans. RESULTS: We found that task performance was significantly different between NF1 and controls, the latter showing higher tapping time precision. The time-frequency patterns at the beta sub-band (20-26 Hz) mirrored the behavioural modulations, with similar cyclic synchronization/desynchronization patterns for both groups. fMRI results showed a higher recruitment of the extrapyramidal motor system (putamen, cerebellum and red nucleus) in the control group during the fastest pacing condition. CONCLUSIONS: The present study demonstrated impaired precision in rhythmic pacing behaviour in NF1 as compared with controls. We found a decreased recruitment of the cerebellum, a structure where inhibitory interneurons are essential regulators of rhythmic synchronization, and in deep brain regions pivotally involved in motor pacing. Our findings shed light into the neural underpinnings of motor timing deficits in NF1. En ligne : http://dx.doi.org/10.1186/s11689-018-9230-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.11[article] Oscillatory motor patterning is impaired in neurofibromatosis type 1: a behavioural, EEG and fMRI study [Texte imprimé et/ou numérique] / G. SILVA, Auteur ; I. C. DUARTE, Auteur ; I. BERNARDINO, Auteur ; T. MARQUES, Auteur ; I. R. VIOLANTE, Auteur ; Miguel CASTELO-BRANCO, Auteur . - p.11.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.11
Mots-clés : Eeg Inhibition Motor coordination Neurofibromatosis type 1 fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type1 (NF1) is associated with a broad range of behavioural deficits, and an imbalance between excitatory and inhibitory neurotransmission has been postulated in this disorder. Inhibition is involved in the control of frequency and stability of motor rhythms. Therefore, we aimed to explore the link between behavioural motor control, brain rhythms and brain activity, as assessed by EEG and fMRI in NF1. METHODS: We studied a cohort of 21 participants with NF1 and 20 age- and gender-matched healthy controls, with a finger-tapping task requiring pacing at distinct frequencies during EEG and fMRI scans. RESULTS: We found that task performance was significantly different between NF1 and controls, the latter showing higher tapping time precision. The time-frequency patterns at the beta sub-band (20-26 Hz) mirrored the behavioural modulations, with similar cyclic synchronization/desynchronization patterns for both groups. fMRI results showed a higher recruitment of the extrapyramidal motor system (putamen, cerebellum and red nucleus) in the control group during the fastest pacing condition. CONCLUSIONS: The present study demonstrated impaired precision in rhythmic pacing behaviour in NF1 as compared with controls. We found a decreased recruitment of the cerebellum, a structure where inhibitory interneurons are essential regulators of rhythmic synchronization, and in deep brain regions pivotally involved in motor pacing. Our findings shed light into the neural underpinnings of motor timing deficits in NF1. En ligne : http://dx.doi.org/10.1186/s11689-018-9230-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351 Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA) / S. STIVAROS in Molecular Autism, 9 (2018)
PermalinkSex bias in autism spectrum disorder in neurofibromatosis type 1 / S. GARG in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
PermalinkSocial skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 / E. I. PIERPONT in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
PermalinkAutism Spectrum Disorder Profile in Neurofibromatosis Type I / Shruti GARG in Journal of Autism and Developmental Disorders, 45-6 (June 2015)
PermalinkAttention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies / T. GREEN in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
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