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Autism Spectrum Disorder Profile in Neurofibromatosis Type I / Shruti GARG in Journal of Autism and Developmental Disorders, 45-6 (June 2015)
[article]
Titre : Autism Spectrum Disorder Profile in Neurofibromatosis Type I Type de document : Texte imprimé et/ou numérique 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
in Journal of Autism and Developmental Disorders > 45-6 (June 2015) . - p.1649-1657[article] Autism Spectrum Disorder Profile in Neurofibromatosis Type I [Texte imprimé et/ou numérique] / 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 Early development of infants with neurofibromatosis type 1: a case series / A. M. KOLESNIK in Molecular Autism, 8 (2017)
[article]
Titre : Early development of infants with neurofibromatosis type 1: a case series Type de document : Texte imprimé et/ou numérique Auteurs : A. M. KOLESNIK, Auteur ; E. J. H. JONES, Auteur ; S. GARG, Auteur ; J. GREEN, Auteur ; Tony CHARMAN, Auteur ; M. H. 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
in Molecular Autism > 8 (2017) . - 62p.[article] Early development of infants with neurofibromatosis type 1: a case series [Texte imprimé et/ou numérique] / A. M. KOLESNIK, Auteur ; E. J. H. JONES, Auteur ; S. GARG, Auteur ; J. GREEN, Auteur ; Tony CHARMAN, Auteur ; M. H. 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)
[article]
Titre : Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood Type de document : Texte imprimé et/ou numérique 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
in Molecular Autism > 13 (2022) . - 46 p.[article] Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood [Texte imprimé et/ou numérique] / 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)
[article]
Titre : Phénotype cognitif des enfants atteints de neurofibromatose de type 1. Revue de la littérature Type de document : Texte imprimé et/ou numérique 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
in Développements > 10 (Décembre 2011) . - p.37-44[article] Phénotype cognitif des enfants atteints de neurofibromatose de type 1. Revue de la littérature [Texte imprimé et/ou numérique] / 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 / E. I. PIERPONT in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
[article]
Titre : Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 Type de document : Texte imprimé et/ou numérique Auteurs : E. I. PIERPONT, Auteur ; R. L. HUDOCK, Auteur ; A. M. FOY, Auteur ; M. SEMRUD-CLIKEMAN, Auteur ; M. E. PIERPONT, Auteur ; S. A. BERRY, Auteur ; R. SHANLEY, Auteur ; N. RUBIN, Auteur ; K. SOMMER, Auteur ; C. L. MOERTEL, Auteur Année de publication : 2018 Article en page(s) : 21 p. Langues : Anglais (eng) Mots-clés : Language Nf1 Neurofibromatosis type 1 Neuropsychological Noonan syndrome RASopathies Social Index. décimale : PER Périodiques Résumé : BACKGROUND: Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS. METHODS: Parents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the ages of 8 and 16 years were administered well-validated caregiver questionnaires assessing their child's social skills, language abilities, attention-deficit hyperactivity disorder (ADHD) symptoms and anxiety. RESULTS: With respect to overall social skills, average ratings of children in both clinical groups were similar, and indicated weaker social skills compared to unaffected siblings. Although ratings of social skills were outside of normal limits for more than four in ten children within the clinical groups, most of the deficits were mild/moderate. Fifteen percent of the children with NS and 5% of the children with NF1 were rated as having severe social skills impairment (< - 2SD). Independent of diagnosis, having fewer ADHD symptoms or better social-pragmatic language skills was predictive of stronger social skills. CONCLUSIONS: Amidst efforts to support social skill development among children and adolescents with RASopathies, neuropsychological correlates such as social language competence, attention, and behavioral self-regulation could be important targets of intervention. En ligne : http://dx.doi.org/10.1186/s11689-018-9239-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 21 p.[article] Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 [Texte imprimé et/ou numérique] / E. I. PIERPONT, Auteur ; R. L. HUDOCK, Auteur ; A. M. FOY, Auteur ; M. SEMRUD-CLIKEMAN, Auteur ; M. E. PIERPONT, Auteur ; S. A. BERRY, Auteur ; R. SHANLEY, Auteur ; N. RUBIN, Auteur ; K. SOMMER, Auteur ; C. L. MOERTEL, Auteur . - 2018 . - 21 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 21 p.
Mots-clés : Language Nf1 Neurofibromatosis type 1 Neuropsychological Noonan syndrome RASopathies Social Index. décimale : PER Périodiques Résumé : BACKGROUND: Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS. METHODS: Parents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the ages of 8 and 16 years were administered well-validated caregiver questionnaires assessing their child's social skills, language abilities, attention-deficit hyperactivity disorder (ADHD) symptoms and anxiety. RESULTS: With respect to overall social skills, average ratings of children in both clinical groups were similar, and indicated weaker social skills compared to unaffected siblings. Although ratings of social skills were outside of normal limits for more than four in ten children within the clinical groups, most of the deficits were mild/moderate. Fifteen percent of the children with NS and 5% of the children with NF1 were rated as having severe social skills impairment (< - 2SD). Independent of diagnosis, having fewer ADHD symptoms or better social-pragmatic language skills was predictive of stronger social skills. CONCLUSIONS: Amidst efforts to support social skill development among children and adolescents with RASopathies, neuropsychological correlates such as social language competence, attention, and behavioral self-regulation could be important targets of intervention. En ligne : http://dx.doi.org/10.1186/s11689-018-9239-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 A Neuroimaging Preparation Protocol Tailored for Autism / Maria TZIRAKI in Autism Research, 14-1 (January 2021)
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