8 recherche sur le mot-clé 'Nf1'

Autism Spectrum Disorder Profile in Neurofibromatosis Type I / Shruti GARG in Journal of Autism and Developmental Disorders, 45-6 (June 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-6 (June 2015) . - p.1649-1657 Titre : Autism Spectrum Disorder Profile in Neurofibromatosis Type I Type de document : texte imprimé Auteurs : Shruti GARG, Auteur ; Ellen PLASSCHAERT, Auteur ; Mie-Jef DESCHEEMAEKER, Auteur ; Susan HUSON, Auteur ; Martine BORGHGRAEF, Auteur ; Annick VOGELS, Auteur ; D. Gareth EVANS, Auteur ; Eric LEGIUS, Auteur ; Jonathan GREEN, Auteur Article en page(s) : p.1649-1657 Langues : Anglais (eng) Mots-clés : NF1  ASD  Neurofibromatosis Type 1  Autism spectrum disorder  SRS  ADOS Index. décimale : PER Périodiques Résumé : Neurofibromatosis Type 1 (NF1) is a common autosomal dominant single-gene disorder, in which the co-occurrence of autism spectrum disorder (ASD) has attracted considerable research interest recently with prevalence estimates of 21–40 %. However, detailed characterization of the ASD behavioral phenotype in NF1 is still lacking. This study characterized the phenotypic profile of ASD symptomatology presenting in 4–16 year old children with NF1 (n = 36) using evidence from parent-rated Social Responsiveness Scale and researcher autism diagnostic observation Scale-2. Compared to IQ-matched reference groups of children with autism and ASD, the NF1 profile shows overall similarity but improved eye contact, less repetitive behaviors and better language skills. En ligne : http://dx.doi.org/10.1007/s10803-014-2321-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259 [article] Autism Spectrum Disorder Profile in Neurofibromatosis Type I [texte imprimé] / Shruti GARG, Auteur ; Ellen PLASSCHAERT, Auteur ; Mie-Jef DESCHEEMAEKER, Auteur ; Susan HUSON, Auteur ; Martine BORGHGRAEF, Auteur ; Annick VOGELS, Auteur ; D. Gareth EVANS, Auteur ; Eric LEGIUS, Auteur ; Jonathan GREEN, Auteur . - p.1649-1657. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-6 (June 2015) . - p.1649-1657 Mots-clés : NF1  ASD  Neurofibromatosis Type 1  Autism spectrum disorder  SRS  ADOS Index. décimale : PER Périodiques Résumé : Neurofibromatosis Type 1 (NF1) is a common autosomal dominant single-gene disorder, in which the co-occurrence of autism spectrum disorder (ASD) has attracted considerable research interest recently with prevalence estimates of 21–40 %. However, detailed characterization of the ASD behavioral phenotype in NF1 is still lacking. This study characterized the phenotypic profile of ASD symptomatology presenting in 4–16 year old children with NF1 (n = 36) using evidence from parent-rated Social Responsiveness Scale and researcher autism diagnostic observation Scale-2. Compared to IQ-matched reference groups of children with autism and ASD, the NF1 profile shows overall similarity but improved eye contact, less repetitive behaviors and better language skills. En ligne : http://dx.doi.org/10.1007/s10803-014-2321-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259

Developmental trajectories in infants and pre-school children with Neurofibromatosis 1 / Hannah SLEVIN in Molecular Autism, 15 (2024)  

Public ISBD [article]  inMolecular Autism > 15 (2024) . - 45p. Titre : Developmental trajectories in infants and pre-school children with Neurofibromatosis 1 Type de document : texte imprimé Auteurs : Hannah SLEVIN, Auteur ; Fiona KEHINDE, Auteur ; Jannath BEGUM-ALI, Auteur ; Ceri ELLIS, Auteur ; Emma BURKITT-WRIGHT, Auteur ; Jonathan GREEN, Auteur ; Mark H. JOHNSON, Auteur ; Greg PASCO, Auteur ; Tony CHARMAN, Auteur ; Emily J.H. JONES, Auteur ; Shruti GARG, Auteur ; EDEN-STAARS TEAM, Auteur Article en page(s) : 45p. Langues : Anglais (eng) Mots-clés : Humans  Neurofibromatosis 1  Infant  Female  Male  Child, Preschool  Cognition  Child Development  Attention Deficit Disorder with Hyperactivity/diagnosis  Prospective Studies  Autistic Disorder/diagnosis  Adhd  Autism  Children  Cohort  Nf1  Neurofibromatosis  Trajectories  has received royalties from Sage Publications and Guilford Publications. The  other authors have no conflicts of interest to disclose. Index. décimale : PER Périodiques Résumé : BACKGROUND: Children with Neurofibromatosis 1 (NF1) show cognitive, behavioural and social differences compared to their peers. However, the age and sequence at which these differences begin to emerge is not fully understood. This prospective cohort study examines the cognitive, behavioural, ADHD trait and autism symptom development in infant and pre-school children with NF1 compared with typically developing (TD) children without a family history of neurodevelopmental conditions. METHODS: Data from standardised tests was gathered at 5, 10, 14, 24 and 36 months of age (NF1 n = 35, TD n = 29). Developmental trajectories of cognitive (Mullen Scales of Early Learning, MSEL) and adaptive behavioural (Vineland Adaptive Behavior Scales, VABS) development from 5 to 36 months were analysed using linear mixed modelling. Measures of ADHD (Child Behavior Checklist) and autism traits (ADOS-2, BOSA-MV and ADI-R) were assessed at 24 and 36 months. RESULTS: The developmental trajectory of cognitive skills (all domains of the MSEL) and behavioural skills (four domains of the VABS) differed significantly between NF1 and TD groups. Post-hoc tests demonstrated that the NF1 participants scored significantly lower than TD participants at 24 months on all MSEL and VABS domains. The NF1 cohort demonstrated higher mean autism and ADHD traits at 24 months and 14% of the NF1 cohort met a research diagnostic classification for autism at 36 months. LIMITATIONS: The study has a relatively small sample size due to variable retention and rolling recruitment. Due to limitations imposed by the COVID-19 pandemic, we utilised the Brief Observation of Symptoms of Autism for Minimally Verbal children (BOSA-MV) for some participants, which was administered online and may not gather as accurate a picture of traits as ADOS-2. The BOSA-MV was utilised for 41% of participants with NF1 at 36 months compared to 11% at 24 months. This may explain the reduction in the percentage of children with NF1 that met autism criteria at 36 months. CONCLUSIONS: By 24 months of age, the NF1 cohort show lower cognitive skills and adaptive behaviour and higher levels of autism and ADHD traits as compared to TD children. This has implications for developmental monitoring and referral for early interventions. TRIAL REGISTRATION: Not applicable. En ligne : https://dx.doi.org/10.1186/s13229-024-00621-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538 [article] Developmental trajectories in infants and pre-school children with Neurofibromatosis 1 [texte imprimé] / Hannah SLEVIN, Auteur ; Fiona KEHINDE, Auteur ; Jannath BEGUM-ALI, Auteur ; Ceri ELLIS, Auteur ; Emma BURKITT-WRIGHT, Auteur ; Jonathan GREEN, Auteur ; Mark H. JOHNSON, Auteur ; Greg PASCO, Auteur ; Tony CHARMAN, Auteur ; Emily J.H. JONES, Auteur ; Shruti GARG, Auteur ; EDEN-STAARS TEAM, Auteur . - 45p. Langues : Anglais (eng) in Molecular Autism > 15 (2024) . - 45p. Mots-clés : Humans  Neurofibromatosis 1  Infant  Female  Male  Child, Preschool  Cognition  Child Development  Attention Deficit Disorder with Hyperactivity/diagnosis  Prospective Studies  Autistic Disorder/diagnosis  Adhd  Autism  Children  Cohort  Nf1  Neurofibromatosis  Trajectories  has received royalties from Sage Publications and Guilford Publications. The  other authors have no conflicts of interest to disclose. Index. décimale : PER Périodiques Résumé : BACKGROUND: Children with Neurofibromatosis 1 (NF1) show cognitive, behavioural and social differences compared to their peers. However, the age and sequence at which these differences begin to emerge is not fully understood. This prospective cohort study examines the cognitive, behavioural, ADHD trait and autism symptom development in infant and pre-school children with NF1 compared with typically developing (TD) children without a family history of neurodevelopmental conditions. METHODS: Data from standardised tests was gathered at 5, 10, 14, 24 and 36 months of age (NF1 n = 35, TD n = 29). Developmental trajectories of cognitive (Mullen Scales of Early Learning, MSEL) and adaptive behavioural (Vineland Adaptive Behavior Scales, VABS) development from 5 to 36 months were analysed using linear mixed modelling. Measures of ADHD (Child Behavior Checklist) and autism traits (ADOS-2, BOSA-MV and ADI-R) were assessed at 24 and 36 months. RESULTS: The developmental trajectory of cognitive skills (all domains of the MSEL) and behavioural skills (four domains of the VABS) differed significantly between NF1 and TD groups. Post-hoc tests demonstrated that the NF1 participants scored significantly lower than TD participants at 24 months on all MSEL and VABS domains. The NF1 cohort demonstrated higher mean autism and ADHD traits at 24 months and 14% of the NF1 cohort met a research diagnostic classification for autism at 36 months. LIMITATIONS: The study has a relatively small sample size due to variable retention and rolling recruitment. Due to limitations imposed by the COVID-19 pandemic, we utilised the Brief Observation of Symptoms of Autism for Minimally Verbal children (BOSA-MV) for some participants, which was administered online and may not gather as accurate a picture of traits as ADOS-2. The BOSA-MV was utilised for 41% of participants with NF1 at 36 months compared to 11% at 24 months. This may explain the reduction in the percentage of children with NF1 that met autism criteria at 36 months. CONCLUSIONS: By 24 months of age, the NF1 cohort show lower cognitive skills and adaptive behaviour and higher levels of autism and ADHD traits as compared to TD children. This has implications for developmental monitoring and referral for early interventions. TRIAL REGISTRATION: Not applicable. En ligne : https://dx.doi.org/10.1186/s13229-024-00621-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

Early development of infants with neurofibromatosis type 1: a case series / Anna May KOLESNIK in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 62p. Titre : Early development of infants with neurofibromatosis type 1: a case series Type de document : texte imprimé Auteurs : Anna May KOLESNIK, Auteur ; Emily Jane Harrison JONES, Auteur ; Shruti GARG, Auteur ; Jonathan GREEN, Auteur ; Tony CHARMAN, Auteur ; Mark Henry JOHNSON, Auteur Article en page(s) : 62p. Langues : Anglais (eng) Mots-clés : Adaptive functioning  Autism  Cognition  Development  Infant  Nf1  Prospective longitudinal  Sensory processing  Social engagement  Translational neurodevelopment Index. décimale : PER Périodiques Résumé : Background: Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD. Methods: We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology. We compared data from infants with NF1 to a large cohort of infants at familial risk for ASD, separated by outcome at age 3 of ASD (n = 34), atypical development (n = 44), or typical development (n = 89), and low-risk controls (n = 75). Domains assessed at 10 months by parent report and examiner observation include cognitive and adaptive function, sensory processing, social engagement, and temperament. Results: Infants with NF1 showed striking impairments in motor functioning relative to low-risk infants; this pattern was seen in infants with later ASD from the familial cohort (HR-ASD). Both infants with NF1 and the HR-ASD group showed communication delays relative to low-risk infants. Conclusions: Ten-month-old infants with NF1 show a range of developmental difficulties that were particularly striking in motor and communication domains. As with HR-ASD infants, social skills at this age were not notably impaired. This is some of the first information on early neurodevelopment in NF1. Strong inferences are limited by the sample size, but the findings suggest implications for early comparative developmental science and highlight motor functioning as an important domain to inform the development of relevant animal models. The findings have clinical implications in indicating an important focus for early surveillance and remediation in this early diagnosed genetic disorder. En ligne : http://dx.doi.org/10.1186/s13229-017-0178-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330 [article] Early development of infants with neurofibromatosis type 1: a case series [texte imprimé] / Anna May KOLESNIK, Auteur ; Emily Jane Harrison JONES, Auteur ; Shruti GARG, Auteur ; Jonathan GREEN, Auteur ; Tony CHARMAN, Auteur ; Mark Henry JOHNSON, Auteur . - 62p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 62p. Mots-clés : Adaptive functioning  Autism  Cognition  Development  Infant  Nf1  Prospective longitudinal  Sensory processing  Social engagement  Translational neurodevelopment Index. décimale : PER Périodiques Résumé : Background: Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD. Methods: We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology. We compared data from infants with NF1 to a large cohort of infants at familial risk for ASD, separated by outcome at age 3 of ASD (n = 34), atypical development (n = 44), or typical development (n = 89), and low-risk controls (n = 75). Domains assessed at 10 months by parent report and examiner observation include cognitive and adaptive function, sensory processing, social engagement, and temperament. Results: Infants with NF1 showed striking impairments in motor functioning relative to low-risk infants; this pattern was seen in infants with later ASD from the familial cohort (HR-ASD). Both infants with NF1 and the HR-ASD group showed communication delays relative to low-risk infants. Conclusions: Ten-month-old infants with NF1 show a range of developmental difficulties that were particularly striking in motor and communication domains. As with HR-ASD infants, social skills at this age were not notably impaired. This is some of the first information on early neurodevelopment in NF1. Strong inferences are limited by the sample size, but the findings suggest implications for early comparative developmental science and highlight motor functioning as an important domain to inform the development of relevant animal models. The findings have clinical implications in indicating an important focus for early surveillance and remediation in this early diagnosed genetic disorder. En ligne : http://dx.doi.org/10.1186/s13229-017-0178-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330

Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood / Virginia CARTER LENO in Molecular Autism, 13 (2022)  

Public ISBD [article]  inMolecular Autism > 13 (2022) . - 46 p. Titre : Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood Type de document : texte imprimé Auteurs : Virginia CARTER LENO, Auteur ; Jannath BEGUM-ALI, Auteur ; Amy GOODWIN, Auteur ; Luke MASON, Auteur ; Greg PASCO, Auteur ; Andrew PICKLES, Auteur ; Shruti GARG, Auteur ; Jonathan GREEN, Auteur ; Tony CHARMAN, Auteur ; Mark H. JOHNSON, Auteur ; Emily J.H. JONES, Auteur ; EDEN, Auteur ; STAARS TEAMS, Auteur Article en page(s) : 46 p. Langues : Anglais (eng) Mots-clés : Humans  Child, Preschool  Infant  Aged  Adhd  Autism  E/I balance  Executive functioning  Infants  NF1  has received royalties from Sage Publications and Guilford Publications. The  other authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism is proposed to be characterised by an atypical balance of cortical excitation and inhibition (E/I). However, most studies have examined E/I alterations in older autistic individuals, meaning that findings could in part reflect homeostatic compensation. To assess the directionality of effects, it is necessary to examine alterations in E/I balance early in the lifespan before symptom emergence. Recent explanatory frameworks have argued that it is also necessary to consider how early risk features interact with later developing modifier factors to predict autism outcomes. METHOD: We indexed E/I balance in early infancy by extracting the aperiodic exponent of the slope of the electroencephalogram (EEG) power spectrum ('1/f'). To validate our index of E/I balance, we tested for differences in the aperiodic exponent in 10-month-old infants with (n=22) and without (n=27) neurofibromatosis type 1 (NF1), a condition thought to be characterised by alterations to cortical inhibition. We then tested for E/I alterations in a larger heterogeneous longitudinal cohort of infants with and without a family history of neurodevelopmental conditions (n=150) who had been followed to early childhood. We tested the relevance of alterations in E/I balance and our proposed modifier, executive attention, by assessing whether associations between 10-month aperiodic slope and 36-month neurodevelopmental traits were moderated by 24-month executive attention. Analyses adjusted for age at EEG assessment, sex and number of EEG trials. RESULTS: Infants with NF1 were characterised by a higher aperiodic exponent, indicative of greater inhibition, supporting our infant measure of E/I. Longitudinal analyses showed a significant interaction between aperiodic slope and executive attention, such that higher aperiodic exponents predicted greater autistic traits in childhood, but only in infants who also had weaker executive functioning abilities. LIMITATIONS: The current study relied on parent report of infant executive functioning-type abilities; future work is required to replicate effects with objective measures of cognition. CONCLUSIONS: Results suggest alterations in E/I balance are on the developmental pathway to autism outcomes, and that higher executive functioning abilities may buffer the impact of early cortical atypicalities, consistent with proposals that stronger executive functioning abilities may modify the impact of a wide range of risk factors. En ligne : http://dx.doi.org/10.1186/s13229-022-00526-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491 [article] Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood [texte imprimé] / Virginia CARTER LENO, Auteur ; Jannath BEGUM-ALI, Auteur ; Amy GOODWIN, Auteur ; Luke MASON, Auteur ; Greg PASCO, Auteur ; Andrew PICKLES, Auteur ; Shruti GARG, Auteur ; Jonathan GREEN, Auteur ; Tony CHARMAN, Auteur ; Mark H. JOHNSON, Auteur ; Emily J.H. JONES, Auteur ; EDEN, Auteur ; STAARS TEAMS, Auteur . - 46 p. Langues : Anglais (eng) in Molecular Autism > 13 (2022) . - 46 p. Mots-clés : Humans  Child, Preschool  Infant  Aged  Adhd  Autism  E/I balance  Executive functioning  Infants  NF1  has received royalties from Sage Publications and Guilford Publications. The  other authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism is proposed to be characterised by an atypical balance of cortical excitation and inhibition (E/I). However, most studies have examined E/I alterations in older autistic individuals, meaning that findings could in part reflect homeostatic compensation. To assess the directionality of effects, it is necessary to examine alterations in E/I balance early in the lifespan before symptom emergence. Recent explanatory frameworks have argued that it is also necessary to consider how early risk features interact with later developing modifier factors to predict autism outcomes. METHOD: We indexed E/I balance in early infancy by extracting the aperiodic exponent of the slope of the electroencephalogram (EEG) power spectrum ('1/f'). To validate our index of E/I balance, we tested for differences in the aperiodic exponent in 10-month-old infants with (n=22) and without (n=27) neurofibromatosis type 1 (NF1), a condition thought to be characterised by alterations to cortical inhibition. We then tested for E/I alterations in a larger heterogeneous longitudinal cohort of infants with and without a family history of neurodevelopmental conditions (n=150) who had been followed to early childhood. We tested the relevance of alterations in E/I balance and our proposed modifier, executive attention, by assessing whether associations between 10-month aperiodic slope and 36-month neurodevelopmental traits were moderated by 24-month executive attention. Analyses adjusted for age at EEG assessment, sex and number of EEG trials. RESULTS: Infants with NF1 were characterised by a higher aperiodic exponent, indicative of greater inhibition, supporting our infant measure of E/I. Longitudinal analyses showed a significant interaction between aperiodic slope and executive attention, such that higher aperiodic exponents predicted greater autistic traits in childhood, but only in infants who also had weaker executive functioning abilities. LIMITATIONS: The current study relied on parent report of infant executive functioning-type abilities; future work is required to replicate effects with objective measures of cognition. CONCLUSIONS: Results suggest alterations in E/I balance are on the developmental pathway to autism outcomes, and that higher executive functioning abilities may buffer the impact of early cortical atypicalities, consistent with proposals that stronger executive functioning abilities may modify the impact of a wide range of risk factors. En ligne : http://dx.doi.org/10.1186/s13229-022-00526-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491

Phénotype cognitif des enfants atteints de neurofibromatose de type 1. Revue de la littérature / Caroline HACHON-LE CAMUS in Développements, 10 (Décembre 2011)

Public ISBD [article]  inDéveloppements > 10 (Décembre 2011) . - p.37-44 Titre : Phénotype cognitif des enfants atteints de neurofibromatose de type 1. Revue de la littérature Type de document : texte imprimé Auteurs : Caroline HACHON-LE CAMUS, Auteur ; Stéphanie IANNUZZI, Auteur ; Carole BERAUD-MAJOREL, Auteur ; Yves CHAIX, Auteur Année de publication : 2011 Article en page(s) : p.37-44 Langues : Français (fre) Mots-clés : NF1  Enfant  Trouble des apprentissages  Imagerie cérébrale Index. décimale : PER Périodiques Résumé : La neurofibromatose de type 1 (NF1) est une des maladies génétiques les plus fréquentes de l'enfant. Environ 50 % des enfants atteints présentent des troubles des apprentissages, en particulier de la lecture. Cette revue s'intéresse aux différents niveaux explicatifs de ces troubles, en se basant sur les déficits cognitifs observés chez ces enfants et sur les récents résultats des études en imagerie et sur des modèles animaux. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155 [article] Phénotype cognitif des enfants atteints de neurofibromatose de type 1. Revue de la littérature [texte imprimé] / Caroline HACHON-LE CAMUS, Auteur ; Stéphanie IANNUZZI, Auteur ; Carole BERAUD-MAJOREL, Auteur ; Yves CHAIX, Auteur . - 2011 . - p.37-44. Langues : Français (fre) in Développements > 10 (Décembre 2011) . - p.37-44 Mots-clés : NF1  Enfant  Trouble des apprentissages  Imagerie cérébrale Index. décimale : PER Périodiques Résumé : La neurofibromatose de type 1 (NF1) est une des maladies génétiques les plus fréquentes de l'enfant. Environ 50 % des enfants atteints présentent des troubles des apprentissages, en particulier de la lecture. Cette revue s'intéresse aux différents niveaux explicatifs de ces troubles, en se basant sur les déficits cognitifs observés chez ces enfants et sur les récents résultats des études en imagerie et sur des modèles animaux. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 / Elizabeth I. PIERPONT in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

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A Neuroimaging Preparation Protocol Tailored for Autism / Maria TZIRAKI in Autism Research, 14-1 (January 2021)  

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

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