21 recherche sur le mot-clé 'Neurofibromatosis type 1'

Unraveling neuronal and metabolic alterations in neurofibromatosis type 1 / Valentina BOTERO in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Unraveling neuronal and metabolic alterations in neurofibromatosis type 1 Type de document : texte imprimé Auteurs : Valentina BOTERO, Auteur ; Seth M. TOMCHIK, Auteur Langues : Anglais (eng) Mots-clés : Neurofibromatosis 1/metabolism/physiopathology/complications  Humans  Neurons/metabolism  Brain/metabolism/physiopathology  Animals  Metabolism  Nf1  Neurofibromatosis type 1  Neurofibromin Index. décimale : PER Périodiques Résumé : Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central nervous system, resulting in a spectrum of clinical manifestations. Significant progress has been made in understanding the disorder's pathophysiology, yet gaps persist in understanding how the complex signaling and systemic interactions affect the disorder. Two features of the disorder are alterations in neuronal function and metabolism, and emerging evidence suggests a potential relationship between them. This review summarizes neurofibromatosis type 1 features and recent research findings on disease mechanisms, with an emphasis on neuronal and metabolic features. En ligne : https://dx.doi.org/10.1186/s11689-024-09565-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Unraveling neuronal and metabolic alterations in neurofibromatosis type 1 [texte imprimé] / Valentina BOTERO, Auteur ; Seth M. TOMCHIK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Neurofibromatosis 1/metabolism/physiopathology/complications  Humans  Neurons/metabolism  Brain/metabolism/physiopathology  Animals  Metabolism  Nf1  Neurofibromatosis type 1  Neurofibromin Index. décimale : PER Périodiques Résumé : Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central nervous system, resulting in a spectrum of clinical manifestations. Significant progress has been made in understanding the disorder's pathophysiology, yet gaps persist in understanding how the complex signaling and systemic interactions affect the disorder. Two features of the disorder are alterations in neuronal function and metabolism, and emerging evidence suggests a potential relationship between them. This review summarizes neurofibromatosis type 1 features and recent research findings on disease mechanisms, with an emphasis on neuronal and metabolic features. En ligne : https://dx.doi.org/10.1186/s11689-024-09565-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

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)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-7 (July 2018) . - p.2278-2285 Titre : Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1) Type de document : texte imprimé Auteurs : S. EIJK, Auteur ; Sabine E. MOUS, Auteur ; Gwen C. DIELEMAN, Auteur ; Bram DIERCKX, Auteur ; André B. RIETMAN, Auteur ; Pieter F.A. DE NIJS, Auteur ; Leontine W. TEN HOOPEN, Auteur ; R. VAN MINKELEN, Auteur ; Ype ELGERSMA, Auteur ; Coriene E. CATSMAN-BERREVOETS, Auteur ; Rianne 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 [article] Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1) [texte imprimé] / S. EIJK, Auteur ; Sabine E. MOUS, Auteur ; Gwen C. DIELEMAN, Auteur ; Bram DIERCKX, Auteur ; André B. RIETMAN, Auteur ; Pieter F.A. DE NIJS, Auteur ; Leontine W. TEN HOOPEN, Auteur ; R. VAN MINKELEN, Auteur ; Ype ELGERSMA, Auteur ; Coriene E. CATSMAN-BERREVOETS, Auteur ; Rianne 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 / Stephan C.J. HUIJBREGTS in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.32 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 Auteurs : Stephan C.J. HUIJBREGTS, Auteur ; Marisa LOITFELDER, Auteur ; Serge A. ROMBOUTS, Auteur ; Hanna SWAAB, Auteur ; Berit M. VERBIST, Auteur ; Enrico B. ARKINK, Auteur ; Mark A. VAN BUCHEM, Auteur ; Ilya 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 [article] Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms [texte imprimé] / Stephan C.J. HUIJBREGTS, Auteur ; Marisa LOITFELDER, Auteur ; Serge A. ROMBOUTS, Auteur ; Hanna SWAAB, Auteur ; Berit M. VERBIST, Auteur ; Enrico B. ARKINK, Auteur ; Mark A. VAN BUCHEM, Auteur ; Ilya 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 / Anita K. CHISHOLM in Molecular Autism, 13 (2022)  

Public ISBD [article]  inMolecular Autism > 13 (2022) . - 3p. Titre : Delineating the autistic phenotype in children with neurofibromatosis type 1 Type de document : texte imprimé Auteurs : Anita K. CHISHOLM, Auteur ; Kristina M. HAEBICH, Auteur ; Natalie A. PRIDE, Auteur ; Karin S. WALSH, Auteur ; Francesca LAMI, Auteur ; Alexandra URE, Auteur ; Tiba MALOOF, Auteur ; Amanda BRIGNELL, Auteur ; Melissa ROUEL, Auteur ; Yael GRANADER, Auteur ; Alice MAIER, Auteur ; Belinda BARTON, Auteur ; Hayley DARKE, Auteur ; Gabriel DABSCHECK, Auteur ; Vicki ANDERSON, Auteur ; Katrina WILLIAMS, Auteur ; Kathryn N. NORTH, Auteur ; Jonathan 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 [article] Delineating the autistic phenotype in children with neurofibromatosis type 1 [texte imprimé] / Anita K. CHISHOLM, Auteur ; Kristina M. HAEBICH, Auteur ; Natalie A. PRIDE, Auteur ; Karin S. WALSH, Auteur ; Francesca LAMI, Auteur ; Alexandra URE, Auteur ; Tiba MALOOF, Auteur ; Amanda BRIGNELL, Auteur ; Melissa ROUEL, Auteur ; Yael GRANADER, Auteur ; Alice MAIER, Auteur ; Belinda BARTON, Auteur ; Hayley DARKE, Auteur ; Gabriel DABSCHECK, Auteur ; Vicki ANDERSON, Auteur ; Katrina WILLIAMS, Auteur ; Kathryn N. NORTH, Auteur ; Jonathan 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

Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1 / Jannath BEGUM-ALI in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1 Type de document : texte imprimé Auteurs : Jannath BEGUM-ALI, Auteur ; Luke MASON, Auteur ; Tony CHARMAN, Auteur ; Mark H. JOHNSON, Auteur ; Jonathan GREEN, Auteur ; Shruti GARG, Auteur ; Emily J.H. JONES, Auteur ; THE STAARS AND EDEN TEAMS, Auteur Langues : Anglais (eng) Mots-clés : Humans  Neurofibromatosis 1/complications/physiopathology  Infant  Attention/physiology  Male  Female  Child Development/physiology  Longitudinal Studies  Visual Perception/physiology  Attention Deficit Disorder with Hyperactivity/physiopathology  Cognition/physiology  Autism Spectrum Disorder/physiopathology  Attention deficit hyperactivity disorder  Autism spectrum disorder  Eye tracking  Longitudinal  Neurofibromatosis Type 1  Visual attention  consent was provided by the parent(s) prior to the commencement of the study. The  testing only took place if the infants were in a content and alert state. Ethical  approval was granted by the National Research Ethics Service and the Research  Ethics Committee of the Department of Psychological Sciences, Birkbeck,  University of London. Consent for publication: Not applicable. Competing  interests: Dr Jannath Begum Ali declares no conflict of interest. Dr Luke Mason  declares no conflict of interest. Professor Tony Charman has served as a paid  consultant to F. Hoffmann-La Roche Ltd and Servier. He has received royalties  from Sage Publications and Guildford Publications. . Dr Shruti Garg declares no  conflict of interest. Professor Jonathan Green declares no conflict of interest.  Professor Mark H. Johnson declares no conflict of interest. Professor Emily J.H.  Jones declares no conflict of interest. The STAARS team declares no conflict of  interest. The EDEN team declares no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis Type 1 is a genetic condition diagnosed in infancy that substantially increases the likelihood of a child experiencing cognitive and developmental difficulties, including Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD). Children with NF1 show clear differences in attention, but whether these differences emerge in early development and how they relate to broader difficulties with cognitive and learning skills is unclear. To address this question requires longitudinal prospective studies from infancy, where the relation between domains of visual attention (including exogenous and endogenous shifting) and cognitive development can be mapped over time. METHODS: We report data from 28 infants with NF1 tested longitudinally at 5, 10 and 14 months compared to cohorts of 29 typical likelihood infants (with no history of NF1 or ASD and/or ADHD), and 123 infants with a family history of ASD and/or ADHD. We used an eyetracking battery to measure both exogenous and endogenous control of visual attention. RESULTS: Infants with NF1 demonstrated intact social orienting, but slower development of endogenous visual foraging. This slower development presented as prolonged engagement with a salient stimulus in a static display relative to typically developing infants. In terms of exogenous attention shifting, NF1 infants showed faster saccadic reaction times than typical likelihood infants. However, the NF1 group demonstrated a slower developmental improvement from 5 to 14 months of age. Individual differences in foraging and saccade times were concurrently related to visual reception abilities within the full infant cohort (NF1, typical likelihood and those with a family history of ASD/ADHD). CONCLUSIONS: Our results provide preliminary evidence that alterations in saccadic reaction time and visual foraging may contribute to learning difficulties in infants with NF1. En ligne : https://dx.doi.org/10.1186/s11689-025-09599-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1 [texte imprimé] / Jannath BEGUM-ALI, Auteur ; Luke MASON, Auteur ; Tony CHARMAN, Auteur ; Mark H. JOHNSON, Auteur ; Jonathan GREEN, Auteur ; Shruti GARG, Auteur ; Emily J.H. JONES, Auteur ; THE STAARS AND EDEN TEAMS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Neurofibromatosis 1/complications/physiopathology  Infant  Attention/physiology  Male  Female  Child Development/physiology  Longitudinal Studies  Visual Perception/physiology  Attention Deficit Disorder with Hyperactivity/physiopathology  Cognition/physiology  Autism Spectrum Disorder/physiopathology  Attention deficit hyperactivity disorder  Autism spectrum disorder  Eye tracking  Longitudinal  Neurofibromatosis Type 1  Visual attention  consent was provided by the parent(s) prior to the commencement of the study. The  testing only took place if the infants were in a content and alert state. Ethical  approval was granted by the National Research Ethics Service and the Research  Ethics Committee of the Department of Psychological Sciences, Birkbeck,  University of London. Consent for publication: Not applicable. Competing  interests: Dr Jannath Begum Ali declares no conflict of interest. Dr Luke Mason  declares no conflict of interest. Professor Tony Charman has served as a paid  consultant to F. Hoffmann-La Roche Ltd and Servier. He has received royalties  from Sage Publications and Guildford Publications. . Dr Shruti Garg declares no  conflict of interest. Professor Jonathan Green declares no conflict of interest.  Professor Mark H. Johnson declares no conflict of interest. Professor Emily J.H.  Jones declares no conflict of interest. The STAARS team declares no conflict of  interest. The EDEN team declares no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis Type 1 is a genetic condition diagnosed in infancy that substantially increases the likelihood of a child experiencing cognitive and developmental difficulties, including Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD). Children with NF1 show clear differences in attention, but whether these differences emerge in early development and how they relate to broader difficulties with cognitive and learning skills is unclear. To address this question requires longitudinal prospective studies from infancy, where the relation between domains of visual attention (including exogenous and endogenous shifting) and cognitive development can be mapped over time. METHODS: We report data from 28 infants with NF1 tested longitudinally at 5, 10 and 14 months compared to cohorts of 29 typical likelihood infants (with no history of NF1 or ASD and/or ADHD), and 123 infants with a family history of ASD and/or ADHD. We used an eyetracking battery to measure both exogenous and endogenous control of visual attention. RESULTS: Infants with NF1 demonstrated intact social orienting, but slower development of endogenous visual foraging. This slower development presented as prolonged engagement with a salient stimulus in a static display relative to typically developing infants. In terms of exogenous attention shifting, NF1 infants showed faster saccadic reaction times than typical likelihood infants. However, the NF1 group demonstrated a slower developmental improvement from 5 to 14 months of age. Individual differences in foraging and saccade times were concurrently related to visual reception abilities within the full infant cohort (NF1, typical likelihood and those with a family history of ASD/ADHD). CONCLUSIONS: Our results provide preliminary evidence that alterations in saccadic reaction time and visual foraging may contribute to learning difficulties in infants with NF1. En ligne : https://dx.doi.org/10.1186/s11689-025-09599-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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)  

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Motor problems in children with neurofibromatosis type 1 / André B. RIETMAN in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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Oscillatory motor patterning is impaired in neurofibromatosis type 1: a behavioural, EEG and fMRI study / Gilberto SILVA in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

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Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA) / Stavros STIVAROS in Molecular Autism, 9 (2018)  

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Sex bias in autism spectrum disorder in neurofibromatosis type 1 / Shruti GARG in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

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