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

Annual Research Review: The state of autism intervention science: progress, target psychological and biological mechanisms and future prospects / Jonathan GREEN in Journal of Child Psychology and Psychiatry, 59-4 (April 2018)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 59-4 (April 2018) . - p.424-443 Titre : Annual Research Review: The state of autism intervention science: progress, target psychological and biological mechanisms and future prospects Type de document : texte imprimé Auteurs : Jonathan GREEN, Auteur ; Shruti GARG, Auteur Article en page(s) : p.424-443 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  intervention  neurobiology  parent training  parent-child interaction Index. décimale : PER Périodiques Résumé : BACKGROUND: There has been recent systematic review of key evidence in psychosocial intervention in autism but little review of biological treatments. METHODS: We analyse the current literature from the perspective of intervention and mechanism targets across social and biological development. RESULTS: The overall quality of trials evidence in autism intervention remains relatively low, despite some recent progress. Many treatments in common use have little or no evidence base. This is very concerning in such an important disorder. A variety of psychosocial interventions can show effect to improve some short-term effects on children's immediate dyadic social interactions, for instance with caregivers. But showing true effectiveness in this developmental disorder requires generalisation of such effects into wider social contexts, on autism symptoms and in long-term progress in development. Only a few interventions so far have begun to show this. A number of early phase interventions on biological targets have shown real promise, but none has yet progressed to larger scale effectiveness trials on behavioural or symptom outcomes. CONCLUSIONS: There has been enough progress in psychosocial intervention research now to be able to begin to identify some evidence-based practice in autism treatment. To consolidate and improve outcomes, the next phase of intervention research needs improved trial design, and an iterative approach building on success. It may also include the testing of potential synergies between promising biological and psychosocial interventions. En ligne : http://dx.doi.org/10.1111/jcpp.12892 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=353 [article] Annual Research Review: The state of autism intervention science: progress, target psychological and biological mechanisms and future prospects [texte imprimé] / Jonathan GREEN, Auteur ; Shruti GARG, Auteur . - p.424-443. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 59-4 (April 2018) . - p.424-443 Mots-clés : Autism spectrum disorders  intervention  neurobiology  parent training  parent-child interaction Index. décimale : PER Périodiques Résumé : BACKGROUND: There has been recent systematic review of key evidence in psychosocial intervention in autism but little review of biological treatments. METHODS: We analyse the current literature from the perspective of intervention and mechanism targets across social and biological development. RESULTS: The overall quality of trials evidence in autism intervention remains relatively low, despite some recent progress. Many treatments in common use have little or no evidence base. This is very concerning in such an important disorder. A variety of psychosocial interventions can show effect to improve some short-term effects on children's immediate dyadic social interactions, for instance with caregivers. But showing true effectiveness in this developmental disorder requires generalisation of such effects into wider social contexts, on autism symptoms and in long-term progress in development. Only a few interventions so far have begun to show this. A number of early phase interventions on biological targets have shown real promise, but none has yet progressed to larger scale effectiveness trials on behavioural or symptom outcomes. CONCLUSIONS: There has been enough progress in psychosocial intervention research now to be able to begin to identify some evidence-based practice in autism treatment. To consolidate and improve outcomes, the next phase of intervention research needs improved trial design, and an iterative approach building on success. It may also include the testing of potential synergies between promising biological and psychosocial interventions. En ligne : http://dx.doi.org/10.1111/jcpp.12892 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=353

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

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

Development of the pupillary light reflex from 9 to 24 months: association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis / Laurel A. FISH in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1308-1319 Titre : Development of the pupillary light reflex from 9 to 24 months: association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis Type de document : texte imprimé Auteurs : Laurel A. FISH, Auteur ; P. NYSTROM, Auteur ; Teodora GLIGA, Auteur ; Anna GUI, Auteur ; Jannath BEGUM-ALI, Auteur ; Luke MASON, Auteur ; Shruti GARG, Auteur ; Jonathan GREEN, Auteur ; Mark Henry JOHNSON, Auteur ; Tony CHARMAN, Auteur ; Rebecca HARRISON, Auteur ; Emma MEABURN, Auteur ; Terje FALCK-YTTER, Auteur ; Emily Jane Harrison JONES, Auteur Article en page(s) : p.1308-1319 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics  Humans  Infant  Phenotype  Reflex  Autism spectrum disorder  infancy  neurodevelopment  pupillary light reflex Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorder (ASD) is heritable, the mechanisms through which genes contribute to symptom emergence remain unclear. Investigating candidate intermediate phenotypes such as the pupillary light reflex (PLR) prospectively from early in development could bridge genotype and behavioural phenotype. METHODS: Using eye tracking, we longitudinally measured the PLR at 9, 14 and 24 months in a sample of infants (N = 264) enriched for a family history of ASD; 27 infants received an ASD diagnosis at 3 years. We examined the 9- to 24-month developmental trajectories of PLR constriction latency (onset; ms) and amplitude (%) and explored their relation to categorical 3-year ASD outcome, polygenic liability for ASD and dimensional 3-year social affect (SA) and repetitive/restrictive behaviour (RRB) traits. Polygenic scores for ASD (PGS(ASD) ) were calculated for 190 infants. RESULTS: While infants showed a decrease in latency between 9 and 14 months, higher PGS(ASD) was associated with a smaller decrease in latency in the first year (β = -.16, 95% CI = -0.31, -0.002); infants with later ASD showed a significantly steeper decrease in latency (a putative 'catch-up') between 14 and 24 months relative to those with other outcomes (typical: β = .54, 95% CI = 0.08, 0.99; other: β = .53, 95% CI = 0.02, 1.04). Latency development did not associate with later dimensional variation in ASD-related traits. In contrast, change in amplitude was not related to categorical ASD or genetics, but decreasing 9- to 14-month amplitude was associated with higher SA (β = .08, 95% CI = 0.01, 0.14) and RRB (β = .05, 95% CI = 0.004, 0.11) traits. CONCLUSIONS: These findings corroborate PLR development as possible intermediate phenotypes being linked to both genetic liability and phenotypic outcomes. Future work should incorporate alternative measures (e.g. functionally informed structural and genetic measures) to test whether distinct neural mechanisms underpin PLR alterations. En ligne : http://dx.doi.org/10.1111/jcpp.13518 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Development of the pupillary light reflex from 9 to 24 months: association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis [texte imprimé] / Laurel A. FISH, Auteur ; P. NYSTROM, Auteur ; Teodora GLIGA, Auteur ; Anna GUI, Auteur ; Jannath BEGUM-ALI, Auteur ; Luke MASON, Auteur ; Shruti GARG, Auteur ; Jonathan GREEN, Auteur ; Mark Henry JOHNSON, Auteur ; Tony CHARMAN, Auteur ; Rebecca HARRISON, Auteur ; Emma MEABURN, Auteur ; Terje FALCK-YTTER, Auteur ; Emily Jane Harrison JONES, Auteur . - p.1308-1319. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1308-1319 Mots-clés : Autism Spectrum Disorder/diagnosis/genetics  Humans  Infant  Phenotype  Reflex  Autism spectrum disorder  infancy  neurodevelopment  pupillary light reflex Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorder (ASD) is heritable, the mechanisms through which genes contribute to symptom emergence remain unclear. Investigating candidate intermediate phenotypes such as the pupillary light reflex (PLR) prospectively from early in development could bridge genotype and behavioural phenotype. METHODS: Using eye tracking, we longitudinally measured the PLR at 9, 14 and 24 months in a sample of infants (N = 264) enriched for a family history of ASD; 27 infants received an ASD diagnosis at 3 years. We examined the 9- to 24-month developmental trajectories of PLR constriction latency (onset; ms) and amplitude (%) and explored their relation to categorical 3-year ASD outcome, polygenic liability for ASD and dimensional 3-year social affect (SA) and repetitive/restrictive behaviour (RRB) traits. Polygenic scores for ASD (PGS(ASD) ) were calculated for 190 infants. RESULTS: While infants showed a decrease in latency between 9 and 14 months, higher PGS(ASD) was associated with a smaller decrease in latency in the first year (β = -.16, 95% CI = -0.31, -0.002); infants with later ASD showed a significantly steeper decrease in latency (a putative 'catch-up') between 14 and 24 months relative to those with other outcomes (typical: β = .54, 95% CI = 0.08, 0.99; other: β = .53, 95% CI = 0.02, 1.04). Latency development did not associate with later dimensional variation in ASD-related traits. In contrast, change in amplitude was not related to categorical ASD or genetics, but decreasing 9- to 14-month amplitude was associated with higher SA (β = .08, 95% CI = 0.01, 0.14) and RRB (β = .05, 95% CI = 0.004, 0.11) traits. CONCLUSIONS: These findings corroborate PLR development as possible intermediate phenotypes being linked to both genetic liability and phenotypic outcomes. Future work should incorporate alternative measures (e.g. functionally informed structural and genetic measures) to test whether distinct neural mechanisms underpin PLR alterations. En ligne : http://dx.doi.org/10.1111/jcpp.13518 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

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

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

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

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Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I / Jannath BEGUM-ALI in Journal of Neurodevelopmental Disorders, 13 (2021)  

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

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

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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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Risk factors for nonfatal self-harm and suicide among adolescents: two nested case-control studies conducted in the UK Clinical Practice Research Datalink / Lukasz CYBULSKI in Journal of Child Psychology and Psychiatry, 63-9 (September 2022)  

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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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Socio-demographic variation in diagnosis of and prescribing for common mental illnesses among children and young people during the COVID-19 pandemic: time series analysis of primary care electronic health records / Louise Jane HUSSEY in Journal of Child Psychology and Psychiatry, 66-1 (January 2025)  

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