Dépouillements

Classifying and characterizing the development of adaptive behavior in a naturalistic longitudinal study of young children with autism / C. FARMER in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.1 Titre : Classifying and characterizing the development of adaptive behavior in a naturalistic longitudinal study of young children with autism Type de document : Texte imprimé et/ou numérique Auteurs : C. FARMER, Auteur ; L. SWINEFORD, Auteur ; Susan E. SWEDO, Auteur ; A. THURM, Auteur Article en page(s) : p.1 Langues : Anglais (eng) Mots-clés : Adaptive behavior  Autism spectrum disorders  Longitudinal studies Index. décimale : PER Périodiques Résumé : BACKGROUND: Adaptive behavior, or the ability to function independently in ones' environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during preschool to school-age are available, though existing data demonstrate that the degree of ability and impairment associated with ASD, and how it manifests over time, is heterogeneous. Growth mixture models are a statistical technique that can help parse this heterogeneity in trajectories. METHODS: Data from an accelerated longitudinal natural history study (n = 105 children with ASD) were subjected to growth mixture model analysis. Children were assessed up to four times between the ages of 3 to 7.99 years. RESULTS: The best fitting model comprised two classes of trajectory on the Adaptive Behavior Composite score of the Vineland Adaptive Behavior Scale, Second Edition-a low and decreasing trajectory (73% of the sample) and a moderate and stable class (27%). CONCLUSIONS: These results partially replicate the classes observed in a previous study of a similarly characterized sample, suggesting that developmental trajectory may indeed serve as a phenotype. Further, the ability to predict which trajectory a child is likely to follow will be useful in planning for clinical trials. En ligne : http://dx.doi.org/10.1186/s11689-017-9222-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Classifying and characterizing the development of adaptive behavior in a naturalistic longitudinal study of young children with autism [Texte imprimé et/ou numérique] / C. FARMER, Auteur ; L. SWINEFORD, Auteur ; Susan E. SWEDO, Auteur ; A. THURM, Auteur . - p.1. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.1 Mots-clés : Adaptive behavior  Autism spectrum disorders  Longitudinal studies Index. décimale : PER Périodiques Résumé : BACKGROUND: Adaptive behavior, or the ability to function independently in ones' environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during preschool to school-age are available, though existing data demonstrate that the degree of ability and impairment associated with ASD, and how it manifests over time, is heterogeneous. Growth mixture models are a statistical technique that can help parse this heterogeneity in trajectories. METHODS: Data from an accelerated longitudinal natural history study (n = 105 children with ASD) were subjected to growth mixture model analysis. Children were assessed up to four times between the ages of 3 to 7.99 years. RESULTS: The best fitting model comprised two classes of trajectory on the Adaptive Behavior Composite score of the Vineland Adaptive Behavior Scale, Second Edition-a low and decreasing trajectory (73% of the sample) and a moderate and stable class (27%). CONCLUSIONS: These results partially replicate the classes observed in a previous study of a similarly characterized sample, suggesting that developmental trajectory may indeed serve as a phenotype. Further, the ability to predict which trajectory a child is likely to follow will be useful in planning for clinical trials. En ligne : http://dx.doi.org/10.1186/s11689-017-9222-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison / S. BISSELL in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.2 Titre : The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison Type de document : Texte imprimé et/ou numérique Auteurs : S. BISSELL, Auteur ; L. WILDE, Auteur ; C. RICHARDS, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur Article en page(s) : p.2 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Behavioural phenotype  Challenging behaviour  Impulsivity  Potocki-Lupski syndrome  Repetitive behaviour  Self-injury  Smith-Magenis syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. While SMS has a relatively well-delineated behavioural phenotype, the behavioural profile in PTLS is less well defined, despite purported associations with autism spectrum disorder (ASD) and the suggestion that some behaviours may be diametric to those seen in SMS. METHODS: Caregivers of individuals with PTLS (N = 34; M age = 12.43, SD = 6.78) completed online behavioural questionnaires, including the Challenging Behaviour Questionnaire (CBQ), the Activity Questionnaire (TAQ), the Repetitive Behaviour Questionnaire (RBQ), the Mood, Interest and Pleasure Questionnaire-Short Form (MIPQ-S) and the Social Communication Questionnaire (SCQ), which assesses behaviours associated with ASD. Individuals with PTLS were matched on age and adaptive functioning to individuals with SMS (N = 31; M age = 13.61, SD = 6.85) and individuals with idiopathic ASD (N = 33; M age = 12.04, SD = 5.85) from an existing dataset. RESULTS: Individuals with PTLS and SMS were less impaired than those with idiopathic ASD on the communication and reciprocal social interaction subscales of the SCQ, but neither syndrome group differed from idiopathic ASD on the restricted, repetitive and stereotyped behaviours subscale. On the repetitive behaviour measure, individuals with PTLS and idiopathic ASD scored higher than individuals with SMS on the compulsive behaviour subscale. Rates of self-injury and property destruction were significantly lower in PTLS and idiopathic ASD than in SMS. No between-syndrome differences were found in relation to overactivity or mood; however, impulsivity was greater in SMS than in PTLS. CONCLUSIONS: Findings suggest some overlap in the behavioural phenotype of PTLS and features of ASD symptomatology; however, the overall profile of behaviours in PTLS appears to be divergent from both idiopathic ASD and SMS. Relative to idiopathic ASD, PTLS is not characterised by communication or social interaction deficits. However, restricted and repetitive behaviours were evident in PTLS, and these may be characterised specifically by compulsive behaviours. While several behavioural differences were identified between PTLS and SMS, there was little evidence of diametric behavioural phenotypes, particularly in relation to social behaviour. En ligne : http://dx.doi.org/10.1186/s11689-017-9221-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison [Texte imprimé et/ou numérique] / S. BISSELL, Auteur ; L. WILDE, Auteur ; C. RICHARDS, Auteur ; J. MOSS, Auteur ; C. OLIVER, Auteur . - p.2. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.2 Mots-clés : Autism spectrum disorder  Behavioural phenotype  Challenging behaviour  Impulsivity  Potocki-Lupski syndrome  Repetitive behaviour  Self-injury  Smith-Magenis syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. While SMS has a relatively well-delineated behavioural phenotype, the behavioural profile in PTLS is less well defined, despite purported associations with autism spectrum disorder (ASD) and the suggestion that some behaviours may be diametric to those seen in SMS. METHODS: Caregivers of individuals with PTLS (N = 34; M age = 12.43, SD = 6.78) completed online behavioural questionnaires, including the Challenging Behaviour Questionnaire (CBQ), the Activity Questionnaire (TAQ), the Repetitive Behaviour Questionnaire (RBQ), the Mood, Interest and Pleasure Questionnaire-Short Form (MIPQ-S) and the Social Communication Questionnaire (SCQ), which assesses behaviours associated with ASD. Individuals with PTLS were matched on age and adaptive functioning to individuals with SMS (N = 31; M age = 13.61, SD = 6.85) and individuals with idiopathic ASD (N = 33; M age = 12.04, SD = 5.85) from an existing dataset. RESULTS: Individuals with PTLS and SMS were less impaired than those with idiopathic ASD on the communication and reciprocal social interaction subscales of the SCQ, but neither syndrome group differed from idiopathic ASD on the restricted, repetitive and stereotyped behaviours subscale. On the repetitive behaviour measure, individuals with PTLS and idiopathic ASD scored higher than individuals with SMS on the compulsive behaviour subscale. Rates of self-injury and property destruction were significantly lower in PTLS and idiopathic ASD than in SMS. No between-syndrome differences were found in relation to overactivity or mood; however, impulsivity was greater in SMS than in PTLS. CONCLUSIONS: Findings suggest some overlap in the behavioural phenotype of PTLS and features of ASD symptomatology; however, the overall profile of behaviours in PTLS appears to be divergent from both idiopathic ASD and SMS. Relative to idiopathic ASD, PTLS is not characterised by communication or social interaction deficits. However, restricted and repetitive behaviours were evident in PTLS, and these may be characterised specifically by compulsive behaviours. While several behavioural differences were identified between PTLS and SMS, there was little evidence of diametric behavioural phenotypes, particularly in relation to social behaviour. En ligne : http://dx.doi.org/10.1186/s11689-017-9221-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

Developmental change in look durations predicts later effortful control in toddlers at familial risk for ASD / A. HENDRY in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.3 Titre : Developmental change in look durations predicts later effortful control in toddlers at familial risk for ASD Type de document : Texte imprimé et/ou numérique Auteurs : A. HENDRY, Auteur ; E. J. H. JONES, Auteur ; Rachael BEDFORD, Auteur ; T. GLIGA, Auteur ; Tony CHARMAN, Auteur ; M. H. JOHNSON, Auteur Article en page(s) : p.3 Langues : Anglais (eng) Mots-clés : Asd  Autism  Development  Effortful control  Endogenous attention  Endophenotype  Executive attention  Executive function  Infant  Sibling Index. décimale : PER Périodiques Résumé : BACKGROUND: Difficulties with executive functioning (EF) are common in individuals with a range of developmental disorders, including autism spectrum disorder (ASD). Interventions that target underlying mechanisms of EF early in development could be broadly beneficial, but require infant markers of such mechanisms in order to be feasible. Prospective studies of infants at high familial risk (HR) for ASD have revealed a surprising tendency for HR toddlers to show longer epochs of attention to faces than low-risk (LR) controls. In typical development, decreases in look durations towards the end of the first year of life are driven by the development of executive attention-a foundational component of EF. Here, we test the hypothesis that prolonged attention to visual stimuli (including faces) in HR toddlers reflects early differences in the development of executive attention. METHODS: In a longitudinal prospective study, we used eye-tracking to record HR and LR infants' looking behaviour to social and non-social visual stimuli at ages 9 and 15 months. At age 3 years, we assessed children with a battery of clinical research measures and collected parental report of effortful control (EC)-a temperament trait closely associated with EF and similarly contingent on executive attention. RESULTS: Consistent with previous studies, we found an attenuated reduction in peak look durations to faces between 9 and 15 months for the HR group compared with the LR group, and lower EC amongst the HR-ASD group. In line with our hypothesis, change in peak look duration to faces between 9 and 15 months was negatively associated with EC at age 3. CONCLUSIONS: We suggest that for HR toddlers, disruption to the early development of executive attention results in an attenuated reduction in looking time to faces. Effects may be more apparent for faces due to early biases to orient towards them; further, attention difficulties may interact with earlier emerging differences in social information processing. Our finding that prolonged attention to faces may be an early indicator of disruption to the executive attention system is of potential value in screening for infants at risk for later EF difficulties and for evaluation of intervention outcomes. En ligne : http://dx.doi.org/10.1186/s11689-017-9219-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351 [article] Developmental change in look durations predicts later effortful control in toddlers at familial risk for ASD [Texte imprimé et/ou numérique] / A. HENDRY, Auteur ; E. J. H. JONES, Auteur ; Rachael BEDFORD, Auteur ; T. GLIGA, Auteur ; Tony CHARMAN, Auteur ; M. H. JOHNSON, Auteur . - p.3. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.3 Mots-clés : Asd  Autism  Development  Effortful control  Endogenous attention  Endophenotype  Executive attention  Executive function  Infant  Sibling Index. décimale : PER Périodiques Résumé : BACKGROUND: Difficulties with executive functioning (EF) are common in individuals with a range of developmental disorders, including autism spectrum disorder (ASD). Interventions that target underlying mechanisms of EF early in development could be broadly beneficial, but require infant markers of such mechanisms in order to be feasible. Prospective studies of infants at high familial risk (HR) for ASD have revealed a surprising tendency for HR toddlers to show longer epochs of attention to faces than low-risk (LR) controls. In typical development, decreases in look durations towards the end of the first year of life are driven by the development of executive attention-a foundational component of EF. Here, we test the hypothesis that prolonged attention to visual stimuli (including faces) in HR toddlers reflects early differences in the development of executive attention. METHODS: In a longitudinal prospective study, we used eye-tracking to record HR and LR infants' looking behaviour to social and non-social visual stimuli at ages 9 and 15 months. At age 3 years, we assessed children with a battery of clinical research measures and collected parental report of effortful control (EC)-a temperament trait closely associated with EF and similarly contingent on executive attention. RESULTS: Consistent with previous studies, we found an attenuated reduction in peak look durations to faces between 9 and 15 months for the HR group compared with the LR group, and lower EC amongst the HR-ASD group. In line with our hypothesis, change in peak look duration to faces between 9 and 15 months was negatively associated with EC at age 3. CONCLUSIONS: We suggest that for HR toddlers, disruption to the early development of executive attention results in an attenuated reduction in looking time to faces. Effects may be more apparent for faces due to early biases to orient towards them; further, attention difficulties may interact with earlier emerging differences in social information processing. Our finding that prolonged attention to faces may be an early indicator of disruption to the executive attention system is of potential value in screening for infants at risk for later EF difficulties and for evaluation of intervention outcomes. En ligne : http://dx.doi.org/10.1186/s11689-017-9219-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351

Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach / I. S. KNOTH in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.4 Titre : Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach Type de document : Texte imprimé et/ou numérique Auteurs : I. S. KNOTH, Auteur ; T. LAJNEF, Auteur ; S. RIGOULOT, Auteur ; K. LACOURSE, Auteur ; P. VANNASING, Auteur ; J. L. MICHAUD, Auteur ; S. JACQUEMONT, Auteur ; P. MAJOR, Auteur ; K. JERBI, Auteur ; S. LIPPE, Auteur Article en page(s) : p.4 Langues : Anglais (eng) Mots-clés : Cognition  Eeg  Fragile X syndrome  Habituation  Iq  Intellectual disability  Machine learning  Repetition suppression Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a neurodevelopmental genetic disorder causing cognitive and behavioural deficits. Repetition suppression (RS), a learning phenomenon in which stimulus repetitions result in diminished brain activity, has been found to be impaired in FXS. Alterations in RS have been associated with behavioural problems in FXS; however, relations between RS and intellectual functioning have not yet been elucidated. METHODS: EEG was recorded in 14 FXS participants and 25 neurotypical controls during an auditory habituation paradigm using repeatedly presented pseudowords. Non-phased locked signal energy was compared across presentations and between groups using linear mixed models (LMMs) in order to investigate RS effects across repetitions and brain areas and a possible relation to non-verbal IQ (NVIQ) in FXS. In addition, we explored group differences according to NVIQ and we probed the feasibility of training a support vector machine to predict cognitive functioning levels across FXS participants based on single-trial RS features. RESULTS: LMM analyses showed that repetition effects differ between groups (FXS vs. controls) as well as with respect to NVIQ in FXS. When exploring group differences in RS patterns, we found that neurotypical controls revealed the expected pattern of RS between the first and second presentations of a pseudoword. More importantly, while FXS participants in the 42 NVIQ group showed a delayed RS response after several presentations. Concordantly, single-trial estimates of repetition effects over the first four repetitions provided the highest decoding accuracies in the classification between the FXS participant groups. CONCLUSION: Electrophysiological measures of repetition effects provide a non-invasive and unbiased measure of brain responses sensitive to cognitive functioning levels, which may be useful for clinical trials in FXS. En ligne : http://dx.doi.org/10.1186/s11689-018-9223-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351 [article] Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach [Texte imprimé et/ou numérique] / I. S. KNOTH, Auteur ; T. LAJNEF, Auteur ; S. RIGOULOT, Auteur ; K. LACOURSE, Auteur ; P. VANNASING, Auteur ; J. L. MICHAUD, Auteur ; S. JACQUEMONT, Auteur ; P. MAJOR, Auteur ; K. JERBI, Auteur ; S. LIPPE, Auteur . - p.4. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.4 Mots-clés : Cognition  Eeg  Fragile X syndrome  Habituation  Iq  Intellectual disability  Machine learning  Repetition suppression Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is a neurodevelopmental genetic disorder causing cognitive and behavioural deficits. Repetition suppression (RS), a learning phenomenon in which stimulus repetitions result in diminished brain activity, has been found to be impaired in FXS. Alterations in RS have been associated with behavioural problems in FXS; however, relations between RS and intellectual functioning have not yet been elucidated. METHODS: EEG was recorded in 14 FXS participants and 25 neurotypical controls during an auditory habituation paradigm using repeatedly presented pseudowords. Non-phased locked signal energy was compared across presentations and between groups using linear mixed models (LMMs) in order to investigate RS effects across repetitions and brain areas and a possible relation to non-verbal IQ (NVIQ) in FXS. In addition, we explored group differences according to NVIQ and we probed the feasibility of training a support vector machine to predict cognitive functioning levels across FXS participants based on single-trial RS features. RESULTS: LMM analyses showed that repetition effects differ between groups (FXS vs. controls) as well as with respect to NVIQ in FXS. When exploring group differences in RS patterns, we found that neurotypical controls revealed the expected pattern of RS between the first and second presentations of a pseudoword. More importantly, while FXS participants in the 42 NVIQ group showed a delayed RS response after several presentations. Concordantly, single-trial estimates of repetition effects over the first four repetitions provided the highest decoding accuracies in the classification between the FXS participant groups. CONCLUSION: Electrophysiological measures of repetition effects provide a non-invasive and unbiased measure of brain responses sensitive to cognitive functioning levels, which may be useful for clinical trials in FXS. En ligne : http://dx.doi.org/10.1186/s11689-018-9223-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351

Memory profiles in Down syndrome across development: a review of memory abilities through the lifespan / M. GODFREY in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.5 Titre : Memory profiles in Down syndrome across development: a review of memory abilities through the lifespan Type de document : Texte imprimé et/ou numérique Auteurs : M. GODFREY, Auteur ; N. R. LEE, Auteur Article en page(s) : p.5 Langues : Anglais (eng) Mots-clés : Cognition  Developmental trajectory  Intellectual disability Index. décimale : PER Périodiques Résumé : Down syndrome (DS) is associated with a variety of cognitive impairments, notably memory impairments. Due to the high prevalence rates of early-onset dementia associated with DS, it is imperative to understand the comprehensive development of memory impairments beginning in childhood and into adulthood, as this may help researchers identify precursors of dementia at earlier stages of development and pinpoint targets for memory intervention. The current paper provides a systematic, developmentally focused review of the nature of memory difficulties in DS across the lifespan. Specifically, this review summarizes what is known about long-term, short-term, and working memory abilities (distinguishing between verbal and nonverbal modalities) in DS, compared to both mental age-matched typically developing peers and individuals with other forms of intellectual disability (ID) at three developmental stages (i.e., preschool, adolescence, and adulthood). Additionally, this review examines the degree of impairment reported relative to typically developing mental age-matched peers in the existing literature by examining effect size data across memory domains as a function of age. With few exceptions, memory abilities were impaired across the lifespan compared to mental age-matched typically developing peers. Relative to other groups with ID, research findings are mixed. Our review of the literature identified a scarcity of memory studies in early childhood, particularly for STM and WM. In adulthood, research was limited in the LTM and WM domains and very little research has compared memory abilities in older adults with DS to those with typical development. Looking to the future, longitudinal studies could provide a better understanding of the developmental trajectory of memory abilities in DS, and the possible associations between memory abilities and real-world functioning. This research could ultimately inform interventions to improve independence and overall quality of life for those with DS and their families. En ligne : http://dx.doi.org/10.1186/s11689-017-9220-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351 [article] Memory profiles in Down syndrome across development: a review of memory abilities through the lifespan [Texte imprimé et/ou numérique] / M. GODFREY, Auteur ; N. R. LEE, Auteur . - p.5. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.5 Mots-clés : Cognition  Developmental trajectory  Intellectual disability Index. décimale : PER Périodiques Résumé : Down syndrome (DS) is associated with a variety of cognitive impairments, notably memory impairments. Due to the high prevalence rates of early-onset dementia associated with DS, it is imperative to understand the comprehensive development of memory impairments beginning in childhood and into adulthood, as this may help researchers identify precursors of dementia at earlier stages of development and pinpoint targets for memory intervention. The current paper provides a systematic, developmentally focused review of the nature of memory difficulties in DS across the lifespan. Specifically, this review summarizes what is known about long-term, short-term, and working memory abilities (distinguishing between verbal and nonverbal modalities) in DS, compared to both mental age-matched typically developing peers and individuals with other forms of intellectual disability (ID) at three developmental stages (i.e., preschool, adolescence, and adulthood). Additionally, this review examines the degree of impairment reported relative to typically developing mental age-matched peers in the existing literature by examining effect size data across memory domains as a function of age. With few exceptions, memory abilities were impaired across the lifespan compared to mental age-matched typically developing peers. Relative to other groups with ID, research findings are mixed. Our review of the literature identified a scarcity of memory studies in early childhood, particularly for STM and WM. In adulthood, research was limited in the LTM and WM domains and very little research has compared memory abilities in older adults with DS to those with typical development. Looking to the future, longitudinal studies could provide a better understanding of the developmental trajectory of memory abilities in DS, and the possible associations between memory abilities and real-world functioning. This research could ultimately inform interventions to improve independence and overall quality of life for those with DS and their families. En ligne : http://dx.doi.org/10.1186/s11689-017-9220-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351

The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators / M. WELDON in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.6 Titre : The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators Type de document : Texte imprimé et/ou numérique Auteurs : M. WELDON, Auteur ; M. KILINC, Auteur ; J. LLOYD HOLDER, Auteur ; G. RUMBAUGH, Auteur Article en page(s) : p.6 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Epilepsy  Intellectual disability  Neurodevelopmental disorders  Rare disorder  Syngap1  Stakeholder meeting Index. décimale : PER Périodiques Résumé : BACKGROUND: Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relatively frequent genetic cause of classically undefined developmental delay that progresses to ID with commonly occurring comorbidities. MAIN BODY: A meeting of 150 people was held that included affected individuals and their caregivers, clinicians that treat this and related brain disorders, neuroscientists that study SYNGAP1 biology or the function of related genes, and representatives from government agencies that fund science and approve new medical treatments. The meeting focused on developing a consensus among all stakeholders as to how best to achieve a more fundamental and profound understanding of SYNGAP1 biology and its role in human disease. SHORT CONCLUSION: From all of these proceedings, several areas of consensus emerged. The clinicians and geneticists agreed that the prevalence of epilepsy and sensory processing impairments in SYNGAP1-related brain disorders approached 100%. The neurobiologists agreed that more basic research is needed to better understand the molecular and cellular functions of the Syngap1 gene, which will lead to targets for therapeutic intervention. Finally, everyone agreed that there is a pressing need to form a robust patient registry as an initial step toward a prospective natural history study of patients with pathogenic SYNGAP1 variants. En ligne : http://dx.doi.org/10.1186/s11689-018-9225-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351 [article] The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators [Texte imprimé et/ou numérique] / M. WELDON, Auteur ; M. KILINC, Auteur ; J. LLOYD HOLDER, Auteur ; G. RUMBAUGH, Auteur . - p.6. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.6 Mots-clés : Autism spectrum disorder  Epilepsy  Intellectual disability  Neurodevelopmental disorders  Rare disorder  Syngap1  Stakeholder meeting Index. décimale : PER Périodiques Résumé : BACKGROUND: Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relatively frequent genetic cause of classically undefined developmental delay that progresses to ID with commonly occurring comorbidities. MAIN BODY: A meeting of 150 people was held that included affected individuals and their caregivers, clinicians that treat this and related brain disorders, neuroscientists that study SYNGAP1 biology or the function of related genes, and representatives from government agencies that fund science and approve new medical treatments. The meeting focused on developing a consensus among all stakeholders as to how best to achieve a more fundamental and profound understanding of SYNGAP1 biology and its role in human disease. SHORT CONCLUSION: From all of these proceedings, several areas of consensus emerged. The clinicians and geneticists agreed that the prevalence of epilepsy and sensory processing impairments in SYNGAP1-related brain disorders approached 100%. The neurobiologists agreed that more basic research is needed to better understand the molecular and cellular functions of the Syngap1 gene, which will lead to targets for therapeutic intervention. Finally, everyone agreed that there is a pressing need to form a robust patient registry as an initial step toward a prospective natural history study of patients with pathogenic SYNGAP1 variants. En ligne : http://dx.doi.org/10.1186/s11689-018-9225-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351

Heart rate-defined sustained attention in infants at risk for autism / B. L. TONNSEN in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.7 Titre : Heart rate-defined sustained attention in infants at risk for autism Type de document : Texte imprimé et/ou numérique Auteurs : B. L. TONNSEN, Auteur ; J. E. RICHARDS, Auteur ; J. E. ROBERTS, Auteur Article en page(s) : p.7 Langues : Anglais (eng) Mots-clés : Ados  Autism  Heart activity  Infant siblings  Sustained attention Index. décimale : PER Périodiques Résumé : BACKGROUND: Although aberrant visual attention has been identified in infants at high familial risk for autism, the developmental emergence of atypical attention remains unclear. Integrating biological measures of attention into prospective high-risk infant studies may inform more nuanced developmental trajectories, clarifying the onset and course of atypical attention and potentially advancing early screening or treatment protocols. Heart rate-defined sustained attention (HRDSA) is a well-validated biological measure of attentional engagement that, in non-clinical infant populations, provides incremental information about attentional engagement beyond looking behaviors alone. The present study aimed to examine the characteristics and clinical correlates of HRDSA in high-risk infants, informing whether HRDSA may operate as a promising biological measure of attention and clinical symptoms in this population. METHODS: We examined age-related patterns of HRDSA during a passive looking task in 5- to 14-month-old high-risk infant siblings of children with autism (n = 21) compared to low-risk controls (n = 21), with most participants contributing multiple assessments. Emergent autism features were measured using the Autism Diagnostic Observation Schedule at 24 months. Primary dependent variables included the proportion of time in behavioral attention, proportion of time in HRDSA, and average heart rate deceleration during HRDSA. For each variable, we used nested multilevel models to examine whether attention differed by group, as well as whether attention predicted emergent autism features among high-risk infant siblings. RESULTS: As expected, HRDSA served as a global biological measure of attention in high-risk infants, predicting greater variability in group risk status than behavioral looking alone. Among high-risk infants, more severe ASD features were also associated with increasingly shallow heart rate deceleration during HRDSA across development, suggesting abnormal qualities of HRDSA may inform individual differences within this population. CONCLUSIONS: These preliminary findings provide initial evidence that HRDSA may offer a sensitive, affordable, and portable biological measure of attention that may enhance understanding of atypical attention in high-risk infants. Using this method, we also provide initial evidence that atypical patterns of heart activity previously reported in children and adults with autism may emerge in the first year of life, warranting further study of how HRDSA may specifically inform attention profiles in ASD. En ligne : http://dx.doi.org/10.1186/s11689-018-9224-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351 [article] Heart rate-defined sustained attention in infants at risk for autism [Texte imprimé et/ou numérique] / B. L. TONNSEN, Auteur ; J. E. RICHARDS, Auteur ; J. E. ROBERTS, Auteur . - p.7. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.7 Mots-clés : Ados  Autism  Heart activity  Infant siblings  Sustained attention Index. décimale : PER Périodiques Résumé : BACKGROUND: Although aberrant visual attention has been identified in infants at high familial risk for autism, the developmental emergence of atypical attention remains unclear. Integrating biological measures of attention into prospective high-risk infant studies may inform more nuanced developmental trajectories, clarifying the onset and course of atypical attention and potentially advancing early screening or treatment protocols. Heart rate-defined sustained attention (HRDSA) is a well-validated biological measure of attentional engagement that, in non-clinical infant populations, provides incremental information about attentional engagement beyond looking behaviors alone. The present study aimed to examine the characteristics and clinical correlates of HRDSA in high-risk infants, informing whether HRDSA may operate as a promising biological measure of attention and clinical symptoms in this population. METHODS: We examined age-related patterns of HRDSA during a passive looking task in 5- to 14-month-old high-risk infant siblings of children with autism (n = 21) compared to low-risk controls (n = 21), with most participants contributing multiple assessments. Emergent autism features were measured using the Autism Diagnostic Observation Schedule at 24 months. Primary dependent variables included the proportion of time in behavioral attention, proportion of time in HRDSA, and average heart rate deceleration during HRDSA. For each variable, we used nested multilevel models to examine whether attention differed by group, as well as whether attention predicted emergent autism features among high-risk infant siblings. RESULTS: As expected, HRDSA served as a global biological measure of attention in high-risk infants, predicting greater variability in group risk status than behavioral looking alone. Among high-risk infants, more severe ASD features were also associated with increasingly shallow heart rate deceleration during HRDSA across development, suggesting abnormal qualities of HRDSA may inform individual differences within this population. CONCLUSIONS: These preliminary findings provide initial evidence that HRDSA may offer a sensitive, affordable, and portable biological measure of attention that may enhance understanding of atypical attention in high-risk infants. Using this method, we also provide initial evidence that atypical patterns of heart activity previously reported in children and adults with autism may emerge in the first year of life, warranting further study of how HRDSA may specifically inform attention profiles in ASD. En ligne : http://dx.doi.org/10.1186/s11689-018-9224-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351

The feasibility of using actigraphy to characterize sleep in Rett syndrome / A. M. MERBLER in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.8 Titre : The feasibility of using actigraphy to characterize sleep in Rett syndrome Type de document : Texte imprimé et/ou numérique Auteurs : A. M. MERBLER, Auteur ; Breanne J. BYIERS, Auteur ; J. J. GARCIA, Auteur ; T. J. FEYMA, Auteur ; F. J. SYMONS, Auteur Article en page(s) : p.8 Langues : Anglais (eng) Mots-clés : Actigraphy  Mecp2  Rett syndrome  Sleep Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the MECP2 gene. Sleep problems are reported by the majority of caregivers of individuals with RTT. METHODS: The present study aimed to replicate and extend previous work about the feasibility of measuring sleep with an actigraph device in a sample of girls with clinically diagnosed RTT (N = 13, mean age = 9 years, 5 months). Participants wore an actigraph device day and night for seven consecutive days. Materials also included a parent-completed sleep diary to measure bedtime, duration of nighttime sleep, and daytime sleep, and the Child Sleep Habit's Questionnaire (CSHQ). RESULTS: The means for the sample as measured by actigraphy were 492.3 min (SD = 47.3) of total night sleep (TNS), 76.0% (SD = 6.7) sleep efficiency, 86.0 min (SD = 34.2) of wake after sleep onset, and 46.1 min (50.8) of sleep when parents reported a nap occurring. Parents reported 589.7 min (SD = 53.6) of TNS, 15.9 min (SD = 12.0) of WASO, and 93.6 min (SD = 66.8) of daytime sleep according to sleep diaries, with all parents reporting at least one nap during the week. Relations were found between sleep characteristics and seizure status and CSHQ total scores. No age-related changes were observed for any sleep characteristic, regardless of collection method. Five of nine participants above the cutoff score on the CSHQ indicate the need for further evaluation for a sleep disorder. CONCLUSIONS: Overall, actigraphy was feasible in this community-based sample of girls with RTT. The results replicated some aspects of previous studies of sleep in RTT (e.g., no age-related changes in total nighttime sleep or efficiency). Some participants met the American Academy of Sleep Medicine guidelines for recommended total sleep time, with others showing too much or too little sleep. Each of the three methods for describing sleep presented its own advantages and challenges. Future work should be prospectively designed, validate the use of actigraphy in this population, and include a typically developing comparison sample to improve the precision of our understanding of sleep in RTT. En ligne : http://dx.doi.org/10.1186/s11689-018-9227-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351 [article] The feasibility of using actigraphy to characterize sleep in Rett syndrome [Texte imprimé et/ou numérique] / A. M. MERBLER, Auteur ; Breanne J. BYIERS, Auteur ; J. J. GARCIA, Auteur ; T. J. FEYMA, Auteur ; F. J. SYMONS, Auteur . - p.8. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.8 Mots-clés : Actigraphy  Mecp2  Rett syndrome  Sleep Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the MECP2 gene. Sleep problems are reported by the majority of caregivers of individuals with RTT. METHODS: The present study aimed to replicate and extend previous work about the feasibility of measuring sleep with an actigraph device in a sample of girls with clinically diagnosed RTT (N = 13, mean age = 9 years, 5 months). Participants wore an actigraph device day and night for seven consecutive days. Materials also included a parent-completed sleep diary to measure bedtime, duration of nighttime sleep, and daytime sleep, and the Child Sleep Habit's Questionnaire (CSHQ). RESULTS: The means for the sample as measured by actigraphy were 492.3 min (SD = 47.3) of total night sleep (TNS), 76.0% (SD = 6.7) sleep efficiency, 86.0 min (SD = 34.2) of wake after sleep onset, and 46.1 min (50.8) of sleep when parents reported a nap occurring. Parents reported 589.7 min (SD = 53.6) of TNS, 15.9 min (SD = 12.0) of WASO, and 93.6 min (SD = 66.8) of daytime sleep according to sleep diaries, with all parents reporting at least one nap during the week. Relations were found between sleep characteristics and seizure status and CSHQ total scores. No age-related changes were observed for any sleep characteristic, regardless of collection method. Five of nine participants above the cutoff score on the CSHQ indicate the need for further evaluation for a sleep disorder. CONCLUSIONS: Overall, actigraphy was feasible in this community-based sample of girls with RTT. The results replicated some aspects of previous studies of sleep in RTT (e.g., no age-related changes in total nighttime sleep or efficiency). Some participants met the American Academy of Sleep Medicine guidelines for recommended total sleep time, with others showing too much or too little sleep. Each of the three methods for describing sleep presented its own advantages and challenges. Future work should be prospectively designed, validate the use of actigraphy in this population, and include a typically developing comparison sample to improve the precision of our understanding of sleep in RTT. En ligne : http://dx.doi.org/10.1186/s11689-018-9227-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351

A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex / J. TRICKETT in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.9 Titre : A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex Type de document : Texte imprimé et/ou numérique Auteurs : J. TRICKETT, Auteur ; M. HEALD, Auteur ; C. OLIVER, Auteur ; C. RICHARDS, Auteur Article en page(s) : p.9 Langues : Anglais (eng) Mots-clés : Angelman syndrome  Autism spectrum disorder  Cross-group comparison  Genetic syndromes  Intellectual disability  Sleep disturbance  Smith-Magenis syndrome  Tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may implicate different pathways to sleep disturbance. At present, cross-group comparisons that might elucidate putative phenotypic sleep characteristics are limited by measurement differences between studies. In this study, a standardised questionnaire was administered across groups affording comparison of the prevalence and profile of sleep disturbance between groups and contrast to chronologically age-matched typically developing (TD) peers. METHODS: The modified version of Simonds and Parraga's sleep questionnaire, adapted for use in children with intellectual disabilities, was employed to assess sleep disturbance profiles in children aged 2-15 years with SMS (n = 26), AS (n = 70), ASD (n = 30), TSC (n = 20) and a TD contrast group (n = 47). Associations between sleep disturbance and age, obesity, health conditions and overactivity/impulsivity were explored for each neurodevelopmental disorder group. RESULTS: Children with SMS displayed severe night waking (81%) and early morning waking (73%). In contrast, children with ASD experienced difficulties with sleep onset (30%) and sleep maintenance (43%). Fewer children with ASD (43%) and AS (46%) experienced severe night waking compared to children with SMS (both p < .01). Higher sleep-disordered breathing scores were identified for children with SMS (p < .001) and AS (p < .001) compared to the TD group. Sleep disturbance in children with AS and TSC was associated with poorer health. Children experiencing symptoms indicative of gastro-oesophageal reflux had significantly higher sleep-disordered breathing scores in the AS, SMS and ASD groups (all p < .01). A number of associations between overactivity, impulsivity, gastro-oesophageal reflux, age and sleep disturbance were found for certain groups. CONCLUSIONS: These data reveal syndrome-specific profiles of sleep disturbance. The divergent associations between sleep parameters and person characteristics, specifically symptoms of gastro-oesophageal reflux, overactivity and impulsivity and age, implicate aetiology-specific mechanisms underpinning sleep disturbance. The differences in prevalence, severity and mechanisms implicated in sleep disturbance between groups support a syndrome-sensitive approach to assessment and treatment of sleep disturbance in children with neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-018-9226-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351 [article] A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex [Texte imprimé et/ou numérique] / J. TRICKETT, Auteur ; M. HEALD, Auteur ; C. OLIVER, Auteur ; C. RICHARDS, Auteur . - p.9. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.9 Mots-clés : Angelman syndrome  Autism spectrum disorder  Cross-group comparison  Genetic syndromes  Intellectual disability  Sleep disturbance  Smith-Magenis syndrome  Tuberous sclerosis complex Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may implicate different pathways to sleep disturbance. At present, cross-group comparisons that might elucidate putative phenotypic sleep characteristics are limited by measurement differences between studies. In this study, a standardised questionnaire was administered across groups affording comparison of the prevalence and profile of sleep disturbance between groups and contrast to chronologically age-matched typically developing (TD) peers. METHODS: The modified version of Simonds and Parraga's sleep questionnaire, adapted for use in children with intellectual disabilities, was employed to assess sleep disturbance profiles in children aged 2-15 years with SMS (n = 26), AS (n = 70), ASD (n = 30), TSC (n = 20) and a TD contrast group (n = 47). Associations between sleep disturbance and age, obesity, health conditions and overactivity/impulsivity were explored for each neurodevelopmental disorder group. RESULTS: Children with SMS displayed severe night waking (81%) and early morning waking (73%). In contrast, children with ASD experienced difficulties with sleep onset (30%) and sleep maintenance (43%). Fewer children with ASD (43%) and AS (46%) experienced severe night waking compared to children with SMS (both p < .01). Higher sleep-disordered breathing scores were identified for children with SMS (p < .001) and AS (p < .001) compared to the TD group. Sleep disturbance in children with AS and TSC was associated with poorer health. Children experiencing symptoms indicative of gastro-oesophageal reflux had significantly higher sleep-disordered breathing scores in the AS, SMS and ASD groups (all p < .01). A number of associations between overactivity, impulsivity, gastro-oesophageal reflux, age and sleep disturbance were found for certain groups. CONCLUSIONS: These data reveal syndrome-specific profiles of sleep disturbance. The divergent associations between sleep parameters and person characteristics, specifically symptoms of gastro-oesophageal reflux, overactivity and impulsivity and age, implicate aetiology-specific mechanisms underpinning sleep disturbance. The differences in prevalence, severity and mechanisms implicated in sleep disturbance between groups support a syndrome-sensitive approach to assessment and treatment of sleep disturbance in children with neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-018-9226-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351

Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome / N. HE in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.10 Titre : Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome Type de document : Texte imprimé et/ou numérique Auteurs : N. HE, Auteur ; B. M. LI, Auteur ; Z. X. LI, Auteur ; J. WANG, Auteur ; X. R. LIU, Auteur ; H. MENG, Auteur ; B. TANG, Auteur ; W. J. BIAN, Auteur ; Y. W. SHI, Auteur ; W. P. LIAO, Auteur Article en page(s) : p.10 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Dravet syndrome  Epileptic encephalopathy  Intellectual disability  Lennox-Gastaut syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) in epilepsy has been a topic of increasing interest, which in general occurs in 15-35% of the patients with epilepsy, more frequently in those with intellectual disability (ID). Lennox-Gastaut syndrome (LGS) and Dravet syndrome (DS) are two typical forms of intractable epileptic encephalopathy associated with ID. We previously reported that ASD was diagnosed in 24.3% of patients with DS, higher in those with profound ID. Given the severe epilepsy and high frequency of ID in LGS, it is necessary to know whether ASD is a common psychomotor co-morbidity of LGS. This study evaluated the autistic behaviors and intelligence in patients with LGS and further compared that between LGS and DS, aiming to understand the complex pathogenesis of epilepsy-ASD-ID triad. METHODS: A total of 50 patients with LGS and 45 patients with DS were enrolled and followed up for at least 3 years. The clinical characteristics were analyzed, and evaluations of ASD and ID were performed. RESULTS: No patients with LGS fully met the diagnostic criteria for ASD, but three of them exhibited more or less autistic behaviors. Majority (86%) of LGS patients presented ID, among which moderate to severe ID was the most common. Early onset age and symptomatic etiology were risk predictors for ID. The prevalence of ASD in LGS was significantly lower than that in DS (0/50 vs. 10/45, p < 0.001), while the prevalence and severity of ID showed no significant difference between the two forms of epileptic encephalopathy. CONCLUSIONS: This study demonstrated a significant difference in the co-morbidity of ASD between LGS and DS, although they had a similar prevalence and severity of ID, refuting the proposal that the prevalence of ASD in epilepsy is accounted for by ID. These findings suggest that the co-morbidity of ASD, ID, and epilepsy may result from multifaceted pathogenic mechanisms. En ligne : http://dx.doi.org/10.1186/s11689-018-9229-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351 [article] Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome [Texte imprimé et/ou numérique] / N. HE, Auteur ; B. M. LI, Auteur ; Z. X. LI, Auteur ; J. WANG, Auteur ; X. R. LIU, Auteur ; H. MENG, Auteur ; B. TANG, Auteur ; W. J. BIAN, Auteur ; Y. W. SHI, Auteur ; W. P. LIAO, Auteur . - p.10. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.10 Mots-clés : Autism spectrum disorder  Dravet syndrome  Epileptic encephalopathy  Intellectual disability  Lennox-Gastaut syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) in epilepsy has been a topic of increasing interest, which in general occurs in 15-35% of the patients with epilepsy, more frequently in those with intellectual disability (ID). Lennox-Gastaut syndrome (LGS) and Dravet syndrome (DS) are two typical forms of intractable epileptic encephalopathy associated with ID. We previously reported that ASD was diagnosed in 24.3% of patients with DS, higher in those with profound ID. Given the severe epilepsy and high frequency of ID in LGS, it is necessary to know whether ASD is a common psychomotor co-morbidity of LGS. This study evaluated the autistic behaviors and intelligence in patients with LGS and further compared that between LGS and DS, aiming to understand the complex pathogenesis of epilepsy-ASD-ID triad. METHODS: A total of 50 patients with LGS and 45 patients with DS were enrolled and followed up for at least 3 years. The clinical characteristics were analyzed, and evaluations of ASD and ID were performed. RESULTS: No patients with LGS fully met the diagnostic criteria for ASD, but three of them exhibited more or less autistic behaviors. Majority (86%) of LGS patients presented ID, among which moderate to severe ID was the most common. Early onset age and symptomatic etiology were risk predictors for ID. The prevalence of ASD in LGS was significantly lower than that in DS (0/50 vs. 10/45, p < 0.001), while the prevalence and severity of ID showed no significant difference between the two forms of epileptic encephalopathy. CONCLUSIONS: This study demonstrated a significant difference in the co-morbidity of ASD between LGS and DS, although they had a similar prevalence and severity of ID, refuting the proposal that the prevalence of ASD in epilepsy is accounted for by ID. These findings suggest that the co-morbidity of ASD, ID, and epilepsy may result from multifaceted pathogenic mechanisms. En ligne : http://dx.doi.org/10.1186/s11689-018-9229-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351

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

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.11 Titre : Oscillatory motor patterning is impaired in neurofibromatosis type 1: a behavioural, EEG and fMRI study Type de document : Texte imprimé et/ou numérique Auteurs : G. SILVA, Auteur ; I. C. DUARTE, Auteur ; I. BERNARDINO, Auteur ; T. MARQUES, Auteur ; I. R. VIOLANTE, Auteur ; Miguel CASTELO-BRANCO, Auteur Article en page(s) : p.11 Langues : Anglais (eng) Mots-clés : Eeg  Inhibition  Motor coordination  Neurofibromatosis type 1  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type1 (NF1) is associated with a broad range of behavioural deficits, and an imbalance between excitatory and inhibitory neurotransmission has been postulated in this disorder. Inhibition is involved in the control of frequency and stability of motor rhythms. Therefore, we aimed to explore the link between behavioural motor control, brain rhythms and brain activity, as assessed by EEG and fMRI in NF1. METHODS: We studied a cohort of 21 participants with NF1 and 20 age- and gender-matched healthy controls, with a finger-tapping task requiring pacing at distinct frequencies during EEG and fMRI scans. RESULTS: We found that task performance was significantly different between NF1 and controls, the latter showing higher tapping time precision. The time-frequency patterns at the beta sub-band (20-26 Hz) mirrored the behavioural modulations, with similar cyclic synchronization/desynchronization patterns for both groups. fMRI results showed a higher recruitment of the extrapyramidal motor system (putamen, cerebellum and red nucleus) in the control group during the fastest pacing condition. CONCLUSIONS: The present study demonstrated impaired precision in rhythmic pacing behaviour in NF1 as compared with controls. We found a decreased recruitment of the cerebellum, a structure where inhibitory interneurons are essential regulators of rhythmic synchronization, and in deep brain regions pivotally involved in motor pacing. Our findings shed light into the neural underpinnings of motor timing deficits in NF1. En ligne : http://dx.doi.org/10.1186/s11689-018-9230-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351 [article] Oscillatory motor patterning is impaired in neurofibromatosis type 1: a behavioural, EEG and fMRI study [Texte imprimé et/ou numérique] / G. SILVA, Auteur ; I. C. DUARTE, Auteur ; I. BERNARDINO, Auteur ; T. MARQUES, Auteur ; I. R. VIOLANTE, Auteur ; Miguel CASTELO-BRANCO, Auteur . - p.11. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - p.11 Mots-clés : Eeg  Inhibition  Motor coordination  Neurofibromatosis type 1  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurofibromatosis type1 (NF1) is associated with a broad range of behavioural deficits, and an imbalance between excitatory and inhibitory neurotransmission has been postulated in this disorder. Inhibition is involved in the control of frequency and stability of motor rhythms. Therefore, we aimed to explore the link between behavioural motor control, brain rhythms and brain activity, as assessed by EEG and fMRI in NF1. METHODS: We studied a cohort of 21 participants with NF1 and 20 age- and gender-matched healthy controls, with a finger-tapping task requiring pacing at distinct frequencies during EEG and fMRI scans. RESULTS: We found that task performance was significantly different between NF1 and controls, the latter showing higher tapping time precision. The time-frequency patterns at the beta sub-band (20-26 Hz) mirrored the behavioural modulations, with similar cyclic synchronization/desynchronization patterns for both groups. fMRI results showed a higher recruitment of the extrapyramidal motor system (putamen, cerebellum and red nucleus) in the control group during the fastest pacing condition. CONCLUSIONS: The present study demonstrated impaired precision in rhythmic pacing behaviour in NF1 as compared with controls. We found a decreased recruitment of the cerebellum, a structure where inhibitory interneurons are essential regulators of rhythmic synchronization, and in deep brain regions pivotally involved in motor pacing. Our findings shed light into the neural underpinnings of motor timing deficits in NF1. En ligne : http://dx.doi.org/10.1186/s11689-018-9230-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=351

Face processing in 22q11.2 deletion syndrome: atypical development and visual scanning alterations / A. ZAHARIA in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 26 p. Titre : Face processing in 22q11.2 deletion syndrome: atypical development and visual scanning alterations Type de document : Texte imprimé et/ou numérique Auteurs : A. ZAHARIA, Auteur ; M. SCHNEIDER, Auteur ; B. GLASER, Auteur ; M. FRANCHINI, Auteur ; S. MENGHETTI, Auteur ; M. SCHAER, Auteur ; M. DEBBANE, Auteur ; S. ELIEZ, Auteur Année de publication : 2018 Article en page(s) : 26 p. Langues : Anglais (eng) Mots-clés : Configural face processing  Eye-tracking  Featural face processing  Neurodevelopmental disorders  Social difficulties Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous research links social difficulties to atypical face exploration in 22q11.2 deletion syndrome (22q11.2DS). Two types of face processing are distinguished: configural (CFP) and featural (FFP). CFP develops later in life and plays an important role in face and emotion recognition abilities. Recent studies reported atypical development of CFP in several neurodevelopmental disorders. Taking previous reports of atypical face exploration one step further, our study aims at characterizing face processing in children and adolescents with 22q11.2DS. First, we sought to identify biases in the first two fixation positions on faces and to detect differences between CFP and FFP in 22q11.2DS using eye-tracking technology. Second, we investigated the developmental trajectories of CFP and FFP using accuracy data from follow-up evaluation. METHODS: Seventy-five individuals with 22q11.2DS and 84 typically developed (TD) individuals (aged 6-21 years) completed a discrimination task ("Jane task") inducing CFP and FFP in an eye-tracking setting. Thirty-six individuals with 22q11DS and 30 TD from our sample completed a longitudinal follow-up evaluation. RESULTS: Findings revealed that individuals with 22q11.2DS demonstrate an early bias toward the mouth region during the initial fixations on the faces and reduced flexibility exploration of the faces, with a reduced number of transitions between faces and longer fixations compared to the TD group. Further, scanpaths did not differ between CFP and FFP in the 22q11.2DS group. Longitudinal analysis of accuracy data provided evidence for atypical development of CFP in 22q11.2DS. CONCLUSIONS: The current study brings new evidence of altered face exploration in 22q11.2DS and identifies developmental mechanisms that may contribute to difficulties impacting social interactions in the syndrome. En ligne : http://dx.doi.org/10.1186/s11689-018-9245-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Face processing in 22q11.2 deletion syndrome: atypical development and visual scanning alterations [Texte imprimé et/ou numérique] / A. ZAHARIA, Auteur ; M. SCHNEIDER, Auteur ; B. GLASER, Auteur ; M. FRANCHINI, Auteur ; S. MENGHETTI, Auteur ; M. SCHAER, Auteur ; M. DEBBANE, Auteur ; S. ELIEZ, Auteur . - 2018 . - 26 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 26 p. Mots-clés : Configural face processing  Eye-tracking  Featural face processing  Neurodevelopmental disorders  Social difficulties Index. décimale : PER Périodiques Résumé : BACKGROUND: Previous research links social difficulties to atypical face exploration in 22q11.2 deletion syndrome (22q11.2DS). Two types of face processing are distinguished: configural (CFP) and featural (FFP). CFP develops later in life and plays an important role in face and emotion recognition abilities. Recent studies reported atypical development of CFP in several neurodevelopmental disorders. Taking previous reports of atypical face exploration one step further, our study aims at characterizing face processing in children and adolescents with 22q11.2DS. First, we sought to identify biases in the first two fixation positions on faces and to detect differences between CFP and FFP in 22q11.2DS using eye-tracking technology. Second, we investigated the developmental trajectories of CFP and FFP using accuracy data from follow-up evaluation. METHODS: Seventy-five individuals with 22q11.2DS and 84 typically developed (TD) individuals (aged 6-21 years) completed a discrimination task ("Jane task") inducing CFP and FFP in an eye-tracking setting. Thirty-six individuals with 22q11DS and 30 TD from our sample completed a longitudinal follow-up evaluation. RESULTS: Findings revealed that individuals with 22q11.2DS demonstrate an early bias toward the mouth region during the initial fixations on the faces and reduced flexibility exploration of the faces, with a reduced number of transitions between faces and longer fixations compared to the TD group. Further, scanpaths did not differ between CFP and FFP in the 22q11.2DS group. Longitudinal analysis of accuracy data provided evidence for atypical development of CFP in 22q11.2DS. CONCLUSIONS: The current study brings new evidence of altered face exploration in 22q11.2DS and identifies developmental mechanisms that may contribute to difficulties impacting social interactions in the syndrome. En ligne : http://dx.doi.org/10.1186/s11689-018-9245-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Arterial spin labeling provides a reliable neurobiological marker of autism spectrum disorder / B. E. YERYS in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 32 p. Titre : Arterial spin labeling provides a reliable neurobiological marker of autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : B. E. YERYS, Auteur ; J. D. HERRINGTON, Auteur ; G. K. BARTLEY, Auteur ; H. S. LIU, Auteur ; J. A. DETRE, Auteur ; Robert T. SCHULTZ, Auteur Année de publication : 2018 Article en page(s) : 32 p. Langues : Anglais (eng) Mots-clés : Autism  Blood flow  Faces  Mri  Social cognition  Social perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Research on neurobiological markers of autism spectrum disorder (ASD) has been elusive. However, radionuclide studies of cerebral blood flow (CBF) have shown decreased blood flow (hypoperfusion) in the temporal lobes of individuals with ASD across ages and intelligence. This observation fits with current neuroscientific models that implicate temporal regions in social perception and social cognition. Arterial spin labeled perfusion MRI allows noninvasive quantification of regional CBF as part of a multimodal MRI protocol. This method is almost entirely absent from ASD research to date. Our a priori hypothesis was that children with ASD would present with hypoperfusion in the temporal lobes-most notably the fusiform gyrus (given its prominent role in ASD social perception deficits). We also sought to examine the reproducibility of CBF measures, and their relationship to individual differences in facial recognition and ASD symptoms. METHODS: A total of 58 males (33 with ASD) between the ages of 12 and 17 years participated in the study. All children completed two arterial spin labeling and structural (T1) scans using a 3 T Siemens Verio scanner approximately 8 weeks apart, as well as behavioral testing at time 1 that included diagnostic measures and the Benton Facial Recognition Test. CBF was the key dependent variable, as was facial recognition performance, and ASD symptoms. The two scans were used for reliability analyses. RESULTS: The ASD group showed hypoperfusion in the bilateral fusiform gyrus and in right inferior temporal gyrus. Intra-class correlations showed moderate to good reliability across time within both groups, and no diagnostic group x time interactions. CBF in the left fusiform gyrus was significantly positively correlated with facial recognition. No significant correlations were observed with core ASD symptoms. CONCLUSIONS: Arterial spin labeling revealed hypoperfusion in children with ASD in regions critical to social perception and cognition. The left fusiform gyrus plays an important role in facial recognition, and greater CBF in this region was correlated with more normative facial recognition performance in children with ASD. This study takes an important first step in establishing CBF of the temporal lobes as a reliable marker of ASD. En ligne : http://dx.doi.org/10.1186/s11689-018-9250-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Arterial spin labeling provides a reliable neurobiological marker of autism spectrum disorder [Texte imprimé et/ou numérique] / B. E. YERYS, Auteur ; J. D. HERRINGTON, Auteur ; G. K. BARTLEY, Auteur ; H. S. LIU, Auteur ; J. A. DETRE, Auteur ; Robert T. SCHULTZ, Auteur . - 2018 . - 32 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 32 p. Mots-clés : Autism  Blood flow  Faces  Mri  Social cognition  Social perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Research on neurobiological markers of autism spectrum disorder (ASD) has been elusive. However, radionuclide studies of cerebral blood flow (CBF) have shown decreased blood flow (hypoperfusion) in the temporal lobes of individuals with ASD across ages and intelligence. This observation fits with current neuroscientific models that implicate temporal regions in social perception and social cognition. Arterial spin labeled perfusion MRI allows noninvasive quantification of regional CBF as part of a multimodal MRI protocol. This method is almost entirely absent from ASD research to date. Our a priori hypothesis was that children with ASD would present with hypoperfusion in the temporal lobes-most notably the fusiform gyrus (given its prominent role in ASD social perception deficits). We also sought to examine the reproducibility of CBF measures, and their relationship to individual differences in facial recognition and ASD symptoms. METHODS: A total of 58 males (33 with ASD) between the ages of 12 and 17 years participated in the study. All children completed two arterial spin labeling and structural (T1) scans using a 3 T Siemens Verio scanner approximately 8 weeks apart, as well as behavioral testing at time 1 that included diagnostic measures and the Benton Facial Recognition Test. CBF was the key dependent variable, as was facial recognition performance, and ASD symptoms. The two scans were used for reliability analyses. RESULTS: The ASD group showed hypoperfusion in the bilateral fusiform gyrus and in right inferior temporal gyrus. Intra-class correlations showed moderate to good reliability across time within both groups, and no diagnostic group x time interactions. CBF in the left fusiform gyrus was significantly positively correlated with facial recognition. No significant correlations were observed with core ASD symptoms. CONCLUSIONS: Arterial spin labeling revealed hypoperfusion in children with ASD in regions critical to social perception and cognition. The left fusiform gyrus plays an important role in facial recognition, and greater CBF in this region was correlated with more normative facial recognition performance in children with ASD. This study takes an important first step in establishing CBF of the temporal lobes as a reliable marker of ASD. En ligne : http://dx.doi.org/10.1186/s11689-018-9250-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees / M. WOODBURY-SMITH in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 20 p. Titre : A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees Type de document : Texte imprimé et/ou numérique Auteurs : M. WOODBURY-SMITH, Auteur ; Andrew D. PATERSON, Auteur ; I. O'CONNOR, Auteur ; M. ZARREI, Auteur ; R. K. C. YUEN, Auteur ; J. L. HOWE, Auteur ; A. THOMPSON, Auteur ; M. PARLIER, Auteur ; B. FERNANDEZ, Auteur ; J. PIVEN, Auteur ; Stephen SCHERER, Auteur ; V. VIELAND, Auteur ; P. SZATMARI, Auteur Année de publication : 2018 Article en page(s) : 20 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Extended pedigrees  Family genetics  Genome-wide linkage  Posterior probability of linkage (PPL) Index. décimale : PER Périodiques Résumé : BACKGROUND: Although several genetic variants for autism spectrum disorder (ASD) have now been identified, these largely occur sporadically or are de novo. Much less progress has been made in identifying inherited variants, even though the disorder itself is familial in the majority of cases. The objective of this study was to identify chromosomal regions that harbor inherited variants increasing the risk for ASD using an approach that examined both ASD and the broad autism phenotype (BAP) among a unique sample of extended pedigrees. METHODS: ASD and BAP were assessed using standardized tools in 28 pedigrees from Canada and the USA, each with at least three ASD-diagnosed individuals from two nuclear families. Genome-wide linkage analysis was performed using the posterior probability of linkage (PPL) statistic, a quasi-Bayesian method that provides strength of evidence for or against linkage in an essentially model-free manner, with outcomes on the probability scale. RESULTS: The results confirm appreciable interfamilial heterogeneity as well as a high level of intrafamilial heterogeneity. Both ASD and combined ASD/BAP specific loci are apparent. CONCLUSIONS: Inclusion of subclinical phenotypes such as BAP should be more widely employed in genetic studies of ASD as a way of identifying inherited genetic variants for the disorder. Moreover, the results underscore the need for approaches to identifying genetic risk factors in extended pedigrees that are robust to high levels of inter/intrafamilial locus and allelic heterogeneity. En ligne : http://dx.doi.org/10.1186/s11689-018-9238-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees [Texte imprimé et/ou numérique] / M. WOODBURY-SMITH, Auteur ; Andrew D. PATERSON, Auteur ; I. O'CONNOR, Auteur ; M. ZARREI, Auteur ; R. K. C. YUEN, Auteur ; J. L. HOWE, Auteur ; A. THOMPSON, Auteur ; M. PARLIER, Auteur ; B. FERNANDEZ, Auteur ; J. PIVEN, Auteur ; Stephen SCHERER, Auteur ; V. VIELAND, Auteur ; P. SZATMARI, Auteur . - 2018 . - 20 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 20 p. Mots-clés : Autism spectrum disorder (ASD)  Extended pedigrees  Family genetics  Genome-wide linkage  Posterior probability of linkage (PPL) Index. décimale : PER Périodiques Résumé : BACKGROUND: Although several genetic variants for autism spectrum disorder (ASD) have now been identified, these largely occur sporadically or are de novo. Much less progress has been made in identifying inherited variants, even though the disorder itself is familial in the majority of cases. The objective of this study was to identify chromosomal regions that harbor inherited variants increasing the risk for ASD using an approach that examined both ASD and the broad autism phenotype (BAP) among a unique sample of extended pedigrees. METHODS: ASD and BAP were assessed using standardized tools in 28 pedigrees from Canada and the USA, each with at least three ASD-diagnosed individuals from two nuclear families. Genome-wide linkage analysis was performed using the posterior probability of linkage (PPL) statistic, a quasi-Bayesian method that provides strength of evidence for or against linkage in an essentially model-free manner, with outcomes on the probability scale. RESULTS: The results confirm appreciable interfamilial heterogeneity as well as a high level of intrafamilial heterogeneity. Both ASD and combined ASD/BAP specific loci are apparent. CONCLUSIONS: Inclusion of subclinical phenotypes such as BAP should be more widely employed in genetic studies of ASD as a way of identifying inherited genetic variants for the disorder. Moreover, the results underscore the need for approaches to identifying genetic risk factors in extended pedigrees that are robust to high levels of inter/intrafamilial locus and allelic heterogeneity. En ligne : http://dx.doi.org/10.1186/s11689-018-9238-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

What's missing in autism spectrum disorder motor assessments? / R. B. WILSON in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 33 p. Titre : What's missing in autism spectrum disorder motor assessments? Type de document : Texte imprimé et/ou numérique Auteurs : R. B. WILSON, Auteur ; J. T. MCCRACKEN, Auteur ; Nicole J. RINEHART, Auteur ; S. S. JESTE, Auteur Année de publication : 2018 Article en page(s) : 33 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Motor assessments  Motor function  Quantitative motor measures Index. décimale : PER Périodiques Résumé : BACKGROUND: Motor delays and impairments in autism spectrum disorders (ASD) are extremely common and often herald the emergence of pervasive atypical development. Clinical accounts of ASD and standardized measures of motor function have identified deficits in multiple motor domains. However, literature describing frequently used standardized motor assessments in children with ASD, their test properties, and their limitations are sparse. METHODS: We systematically reviewed the literature to identify the most frequently used standardized motor assessments used to evaluate children with ASD from infancy to early childhood. All assessments included were required to possess reference norms, evaluate more than one motor domain, and have undergone some degree of validation. RESULTS: We identified six frequently used standardized measures of motor function per our inclusion and exclusion criteria. We investigated and described in detail the psychometric properties of these assessments, their utility for use with children with ASD, and their individual and overall strengths and limitations. The global strengths of these assessments are the ability to identify early development delays and differences in fine and gross motor function in children with ASD. Global limitations of these studies are lack of validation in individuals with ASD and scoring systems that often miss specific and subtle abnormalities. CONCLUSIONS: Standardized assessments of motor function have provided valuable information on motor impairments in ASD. However, significant limitations remain in the use of these measures in children with ASD. Moving forward, it is imperative that standardized measures of motor function receive greater validation testing in children with ASD to assess their potential application given the clinical heterogeneity of this condition. In addition, utilizing quantitative measures of motor function should allow for evaluation and comparison of individuals with ASD across the lifespan with varying cognitive and behavioral abilities. En ligne : http://dx.doi.org/10.1186/s11689-018-9257-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] What's missing in autism spectrum disorder motor assessments? [Texte imprimé et/ou numérique] / R. B. WILSON, Auteur ; J. T. MCCRACKEN, Auteur ; Nicole J. RINEHART, Auteur ; S. S. JESTE, Auteur . - 2018 . - 33 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 33 p. Mots-clés : Autism spectrum disorder  Motor assessments  Motor function  Quantitative motor measures Index. décimale : PER Périodiques Résumé : BACKGROUND: Motor delays and impairments in autism spectrum disorders (ASD) are extremely common and often herald the emergence of pervasive atypical development. Clinical accounts of ASD and standardized measures of motor function have identified deficits in multiple motor domains. However, literature describing frequently used standardized motor assessments in children with ASD, their test properties, and their limitations are sparse. METHODS: We systematically reviewed the literature to identify the most frequently used standardized motor assessments used to evaluate children with ASD from infancy to early childhood. All assessments included were required to possess reference norms, evaluate more than one motor domain, and have undergone some degree of validation. RESULTS: We identified six frequently used standardized measures of motor function per our inclusion and exclusion criteria. We investigated and described in detail the psychometric properties of these assessments, their utility for use with children with ASD, and their individual and overall strengths and limitations. The global strengths of these assessments are the ability to identify early development delays and differences in fine and gross motor function in children with ASD. Global limitations of these studies are lack of validation in individuals with ASD and scoring systems that often miss specific and subtle abnormalities. CONCLUSIONS: Standardized assessments of motor function have provided valuable information on motor impairments in ASD. However, significant limitations remain in the use of these measures in children with ASD. Moving forward, it is imperative that standardized measures of motor function receive greater validation testing in children with ASD to assess their potential application given the clinical heterogeneity of this condition. In addition, utilizing quantitative measures of motor function should allow for evaluation and comparison of individuals with ASD across the lifespan with varying cognitive and behavioral abilities. En ligne : http://dx.doi.org/10.1186/s11689-018-9257-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

An emotion recognition subtyping approach to studying the heterogeneity and comorbidity of autism spectrum disorders and attention-deficit/hyperactivity disorder / F. WADDINGTON in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 31 p. Titre : An emotion recognition subtyping approach to studying the heterogeneity and comorbidity of autism spectrum disorders and attention-deficit/hyperactivity disorder Type de document : Texte imprimé et/ou numérique Auteurs : F. WADDINGTON, Auteur ; Catharina A. HARTMAN, Auteur ; Y. DE BRUIJN, Auteur ; M. LAPPENSCHAAR, Auteur ; A. OERLEMANS, Auteur ; Jan K. BUITELAAR, Auteur ; B. FRANKE, Auteur ; Nanda N. ROMMELSE, Auteur Année de publication : 2018 Article en page(s) : 31 p. Langues : Anglais (eng) Mots-clés : Attention-deficit/hyperactivity disorder  Autism spectrum disorders  Emotion recognition  Factor mixture modelling  Latent class Index. décimale : PER Périodiques Résumé : BACKGROUND: Emotion recognition dysfunction has been reported in both autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). This suggests that emotion recognition is a cross-disorder trait that may be utilised to understand the heterogeneous psychopathology of ASD and ADHD. We aimed to identify emotion recognition subtypes and to examine their relation with quantitative and diagnostic measures of ASD and ADHD to gain further insight into disorder comorbidity and heterogeneity. METHODS: Factor mixture modelling was used on speed and accuracy measures of auditory and visual emotion recognition tasks. These were administered to children and adolescents with ASD (N = 89), comorbid ASD + ADHD (N = 64), their unaffected siblings (N = 122), ADHD (N = 111), their unaffected siblings (N = 69), and controls (N = 220). Identified classes were compared on diagnostic and quantitative symptom measures. RESULTS: A four-class solution was revealed, with the following emotion recognition abilities: (1) average visual, impulsive auditory; (2) average-strong visual and auditory; (3) impulsive/imprecise visual, average auditory; (4) weak visual and auditory. The weakest performing class (4) contained the highest percentage of patients (66.07%) and the lowest percentage controls (10.09%), scoring the highest on ASD/ADHD measures. The best performing class (2) demonstrated the opposite: 48.98% patients, 15.26% controls with relatively low scores on ASD/ADHD measures. CONCLUSIONS: Subgroups of youths can be identified that differ both in quantitative and qualitative aspects of emotion recognition abilities. Weak emotion recognition abilities across sensory domains are linked to an increased risk for ASD as well as ADHD, although emotion recognition impairments alone are neither necessary nor sufficient parts of these disorders. En ligne : http://dx.doi.org/10.1186/s11689-018-9249-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] An emotion recognition subtyping approach to studying the heterogeneity and comorbidity of autism spectrum disorders and attention-deficit/hyperactivity disorder [Texte imprimé et/ou numérique] / F. WADDINGTON, Auteur ; Catharina A. HARTMAN, Auteur ; Y. DE BRUIJN, Auteur ; M. LAPPENSCHAAR, Auteur ; A. OERLEMANS, Auteur ; Jan K. BUITELAAR, Auteur ; B. FRANKE, Auteur ; Nanda N. ROMMELSE, Auteur . - 2018 . - 31 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 31 p. Mots-clés : Attention-deficit/hyperactivity disorder  Autism spectrum disorders  Emotion recognition  Factor mixture modelling  Latent class Index. décimale : PER Périodiques Résumé : BACKGROUND: Emotion recognition dysfunction has been reported in both autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). This suggests that emotion recognition is a cross-disorder trait that may be utilised to understand the heterogeneous psychopathology of ASD and ADHD. We aimed to identify emotion recognition subtypes and to examine their relation with quantitative and diagnostic measures of ASD and ADHD to gain further insight into disorder comorbidity and heterogeneity. METHODS: Factor mixture modelling was used on speed and accuracy measures of auditory and visual emotion recognition tasks. These were administered to children and adolescents with ASD (N = 89), comorbid ASD + ADHD (N = 64), their unaffected siblings (N = 122), ADHD (N = 111), their unaffected siblings (N = 69), and controls (N = 220). Identified classes were compared on diagnostic and quantitative symptom measures. RESULTS: A four-class solution was revealed, with the following emotion recognition abilities: (1) average visual, impulsive auditory; (2) average-strong visual and auditory; (3) impulsive/imprecise visual, average auditory; (4) weak visual and auditory. The weakest performing class (4) contained the highest percentage of patients (66.07%) and the lowest percentage controls (10.09%), scoring the highest on ASD/ADHD measures. The best performing class (2) demonstrated the opposite: 48.98% patients, 15.26% controls with relatively low scores on ASD/ADHD measures. CONCLUSIONS: Subgroups of youths can be identified that differ both in quantitative and qualitative aspects of emotion recognition abilities. Weak emotion recognition abilities across sensory domains are linked to an increased risk for ASD as well as ADHD, although emotion recognition impairments alone are neither necessary nor sufficient parts of these disorders. En ligne : http://dx.doi.org/10.1186/s11689-018-9249-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Load matters: neural correlates of verbal working memory in children with autism spectrum disorder / V. M. VOGAN in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 19 p. Titre : Load matters: neural correlates of verbal working memory in children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : V. M. VOGAN, Auteur ; K. E. FRANCIS, Auteur ; B. R. MORGAN, Auteur ; M. L. SMITH, Auteur ; M. J. TAYLOR, Auteur Année de publication : 2018 Article en page(s) : 19 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Cognitive load  Executive functioning  Verbal working memory  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterised by diminished social reciprocity and communication skills and the presence of stereotyped and restricted behaviours. Executive functioning deficits, such as working memory, are associated with core ASD symptoms. Working memory allows for temporary storage and manipulation of information and relies heavily on frontal-parietal networks of the brain. There are few reports on the neural correlates of working memory in youth with ASD. The current study identified the neural systems underlying verbal working memory capacity in youth with and without ASD using functional magnetic resonance imaging (fMRI). METHODS: Fifty-seven youth, 27 with ASD and 30 sex- and age-matched typically developing (TD) controls (9-16 years), completed a one-back letter matching task (LMT) with four levels of difficulty (i.e. cognitive load) while fMRI data were recorded. Linear trend analyses were conducted to examine brain regions that were recruited as a function of increasing cognitive load. RESULTS: We found similar behavioural performance on the LMT in terms of reaction times, but in the two higher load conditions, the ASD youth had lower accuracy than the TD group. Neural patterns of activations differed significantly between TD and ASD groups. In TD youth, areas classically used for working memory, including the lateral and medial frontal, as well as superior parietal brain regions, increased in activation with increasing task difficulty, while areas related to the default mode network (DMN) showed decreasing activation (i.e., deactivation). The youth with ASD did not appear to use this opposing cognitive processing system; they showed little recruitment of frontal and parietal regions across the load but did show similar modulation of the DMN. CONCLUSIONS: In a working memory task, where the load was manipulated without changing executive demands, TD youth showed increasing recruitment with increasing load of the classic fronto-parietal brain areas and decreasing involvement in default mode regions. In contrast, although they modulated the default mode network, youth with ASD did not show the modulation of increasing brain activation with increasing load, suggesting that they may be unable to manage increasing verbal information. Impaired verbal working memory in ASD would interfere with the youths' success academically and socially. Thus, determining the nature of atypical neural processing could help establish or monitor working memory interventions for ASD. En ligne : http://dx.doi.org/10.1186/s11689-018-9236-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Load matters: neural correlates of verbal working memory in children with autism spectrum disorder [Texte imprimé et/ou numérique] / V. M. VOGAN, Auteur ; K. E. FRANCIS, Auteur ; B. R. MORGAN, Auteur ; M. L. SMITH, Auteur ; M. J. TAYLOR, Auteur . - 2018 . - 19 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 19 p. Mots-clés : Autism spectrum disorder  Cognitive load  Executive functioning  Verbal working memory  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterised by diminished social reciprocity and communication skills and the presence of stereotyped and restricted behaviours. Executive functioning deficits, such as working memory, are associated with core ASD symptoms. Working memory allows for temporary storage and manipulation of information and relies heavily on frontal-parietal networks of the brain. There are few reports on the neural correlates of working memory in youth with ASD. The current study identified the neural systems underlying verbal working memory capacity in youth with and without ASD using functional magnetic resonance imaging (fMRI). METHODS: Fifty-seven youth, 27 with ASD and 30 sex- and age-matched typically developing (TD) controls (9-16 years), completed a one-back letter matching task (LMT) with four levels of difficulty (i.e. cognitive load) while fMRI data were recorded. Linear trend analyses were conducted to examine brain regions that were recruited as a function of increasing cognitive load. RESULTS: We found similar behavioural performance on the LMT in terms of reaction times, but in the two higher load conditions, the ASD youth had lower accuracy than the TD group. Neural patterns of activations differed significantly between TD and ASD groups. In TD youth, areas classically used for working memory, including the lateral and medial frontal, as well as superior parietal brain regions, increased in activation with increasing task difficulty, while areas related to the default mode network (DMN) showed decreasing activation (i.e., deactivation). The youth with ASD did not appear to use this opposing cognitive processing system; they showed little recruitment of frontal and parietal regions across the load but did show similar modulation of the DMN. CONCLUSIONS: In a working memory task, where the load was manipulated without changing executive demands, TD youth showed increasing recruitment with increasing load of the classic fronto-parietal brain areas and decreasing involvement in default mode regions. In contrast, although they modulated the default mode network, youth with ASD did not show the modulation of increasing brain activation with increasing load, suggesting that they may be unable to manage increasing verbal information. Impaired verbal working memory in ASD would interfere with the youths' success academically and socially. Thus, determining the nature of atypical neural processing could help establish or monitor working memory interventions for ASD. En ligne : http://dx.doi.org/10.1186/s11689-018-9236-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation / I. M. SKOGSEID in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 17 p. Titre : Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation Type de document : Texte imprimé et/ou numérique Auteurs : I. M. SKOGSEID, Auteur ; O. ROSBY, Auteur ; A. KONGLUND, Auteur ; J. P. CONNELLY, Auteur ; B. NEDREGAARD, Auteur ; G. E. JABLONSKI, Auteur ; N. KVERNMO, Auteur ; A. STRAY-PEDERSEN, Auteur ; J. C. GLOVER, Auteur Année de publication : 2018 Article en page(s) : 17 p. Langues : Anglais (eng) Mots-clés : ACTB p.Arg183Trp  Dopaminergic dysfunction  Dystonia-deafness syndrome  Pallidal deep brain stimulation  Striatal neuronal dysfunction Index. décimale : PER Périodiques Résumé : BACKGROUND: Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood. Three of these have received beneficial pallidal stimulation. Brain imaging to assess striatal function has not been reported previously, however. Nor has a comprehensive hypothesis been presented for how the pleiotropic manifestations of this specific beta-actin gene mutation originate developmentally. CASE PRESENTATION: A 19-year-old girl with congenital mild dysmorphic facial features, cochlear implants for infant-onset deafness, and mild cognitive and emotional disability, presented with an adolescent-onset, severe generalized dystonia. Brain MRI and multiple single gene sequencing were inconclusive. Due to life-threatening dystonia, we implanted a neurostimulation device, targeting the postero-ventral internal pallidum bilaterally. The Burke-Fahn-Marsden Dystonia Rating Scale motor/disability scores improved from 87/25 to 21/13 at 2.5 months postoperatively, 26/14 at 3 years, and 30/14 at 4 years. Subsequent whole exome sequencing identified heterozygosity for the ACTB p.Arg183Trp variant. Brain imaging included (123)I-ioflupane single photon emission computed tomography (Dopamine Transporter-SPECT), SPECT with (123)I-epidepride (binds to dopamine type 2-receptors) and (18) Fluoro-Deoxy-Glucose (FDG)-PET. Both Epidepride-SPECT and FDG-PET showed reduced tracer uptake in the striatum bilaterally, particularly in the putamen. DaT-SPECT was slightly abnormal. CONCLUSIONS: In this patient with dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity, unprecedented brain imaging findings strongly indicate striatal neuronal/dopaminergic dysfunction as the underlying cause of the dystonia. Pallidal stimulation provided a substantial improvement of the severe generalized dystonia, which is largely sustained at 4-year follow-up, and we advise this treatment to be considered in such patients. We hypothesize that the pleiotropic manifestations of the dystonia-deafness syndrome caused by this mutation derive from diverse developmental functions of beta-actin in neural crest migration and proliferation (facial dysmorphogenesis), hair cell stereocilia function (infant-onset deafness), and altered synaptic activity patterns associated with pubertal changes in striatal function (adolescent-onset dystonia). The temporal differences in developmental onset are likely due to varying degrees of susceptibility and of compensatory upregulation of other actin variants in the affected structures. En ligne : http://dx.doi.org/10.1186/s11689-018-9235-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation [Texte imprimé et/ou numérique] / I. M. SKOGSEID, Auteur ; O. ROSBY, Auteur ; A. KONGLUND, Auteur ; J. P. CONNELLY, Auteur ; B. NEDREGAARD, Auteur ; G. E. JABLONSKI, Auteur ; N. KVERNMO, Auteur ; A. STRAY-PEDERSEN, Auteur ; J. C. GLOVER, Auteur . - 2018 . - 17 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 17 p. Mots-clés : ACTB p.Arg183Trp  Dopaminergic dysfunction  Dystonia-deafness syndrome  Pallidal deep brain stimulation  Striatal neuronal dysfunction Index. décimale : PER Périodiques Résumé : BACKGROUND: Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood. Three of these have received beneficial pallidal stimulation. Brain imaging to assess striatal function has not been reported previously, however. Nor has a comprehensive hypothesis been presented for how the pleiotropic manifestations of this specific beta-actin gene mutation originate developmentally. CASE PRESENTATION: A 19-year-old girl with congenital mild dysmorphic facial features, cochlear implants for infant-onset deafness, and mild cognitive and emotional disability, presented with an adolescent-onset, severe generalized dystonia. Brain MRI and multiple single gene sequencing were inconclusive. Due to life-threatening dystonia, we implanted a neurostimulation device, targeting the postero-ventral internal pallidum bilaterally. The Burke-Fahn-Marsden Dystonia Rating Scale motor/disability scores improved from 87/25 to 21/13 at 2.5 months postoperatively, 26/14 at 3 years, and 30/14 at 4 years. Subsequent whole exome sequencing identified heterozygosity for the ACTB p.Arg183Trp variant. Brain imaging included (123)I-ioflupane single photon emission computed tomography (Dopamine Transporter-SPECT), SPECT with (123)I-epidepride (binds to dopamine type 2-receptors) and (18) Fluoro-Deoxy-Glucose (FDG)-PET. Both Epidepride-SPECT and FDG-PET showed reduced tracer uptake in the striatum bilaterally, particularly in the putamen. DaT-SPECT was slightly abnormal. CONCLUSIONS: In this patient with dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity, unprecedented brain imaging findings strongly indicate striatal neuronal/dopaminergic dysfunction as the underlying cause of the dystonia. Pallidal stimulation provided a substantial improvement of the severe generalized dystonia, which is largely sustained at 4-year follow-up, and we advise this treatment to be considered in such patients. We hypothesize that the pleiotropic manifestations of the dystonia-deafness syndrome caused by this mutation derive from diverse developmental functions of beta-actin in neural crest migration and proliferation (facial dysmorphogenesis), hair cell stereocilia function (infant-onset deafness), and altered synaptic activity patterns associated with pubertal changes in striatal function (adolescent-onset dystonia). The temporal differences in developmental onset are likely due to varying degrees of susceptibility and of compensatory upregulation of other actin variants in the affected structures. En ligne : http://dx.doi.org/10.1186/s11689-018-9235-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Cerebrospinal fluid and the early brain development of autism / M. D. SHEN in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 39 p. Titre : Cerebrospinal fluid and the early brain development of autism Type de document : Texte imprimé et/ou numérique Auteurs : M. D. SHEN, Auteur Année de publication : 2018 Article en page(s) : 39 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Biomarkers  Brain development  Brain enlargement  Cerebrospinal fluid  Early risk signs  Extra-axial cerebrospinal fluid  Glymphatic system  Heterogeneity  Infancy  Lateral ventricles  Neural meningeal lymphatic system  Neuroinflammation  Stratification biomarker Index. décimale : PER Périodiques Résumé : BACKGROUND: There is currently a renaissance of interest in the many functions of cerebrospinal fluid (CSF). Altered flow of CSF, for example, has been shown to impair the clearance of pathogenic inflammatory proteins involved in neurodegenerative diseases, such as amyloid-beta. In addition, the role of CSF in the newly discovered lymphatic system of the brain has become a prominently researched area in clinical neuroscience, as CSF serves as a conduit between the central nervous system and immune system. MAIN BODY: This article will review the importance of CSF in regulating normal brain development and function, from the prenatal period throughout the lifespan, and highlight recent research that CSF abnormalities in autism spectrum disorder (ASD) are present in infancy, are detectable by conventional structural MRI, and could serve as an early indicator of altered neurodevelopment. CONCLUSION: The identification of early CSF abnormalities in children with ASD, along with emerging knowledge of the underlying pathogenic mechanisms, has the potential to serve as early stratification biomarkers that separate children with ASD into biological subtypes that share a common pathophysiology. Such subtypes could help parse the phenotypic heterogeneity of ASD and map on to targeted, biologically based treatments. En ligne : http://dx.doi.org/10.1186/s11689-018-9256-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Cerebrospinal fluid and the early brain development of autism [Texte imprimé et/ou numérique] / M. D. SHEN, Auteur . - 2018 . - 39 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 39 p. Mots-clés : Autism spectrum disorder  Biomarkers  Brain development  Brain enlargement  Cerebrospinal fluid  Early risk signs  Extra-axial cerebrospinal fluid  Glymphatic system  Heterogeneity  Infancy  Lateral ventricles  Neural meningeal lymphatic system  Neuroinflammation  Stratification biomarker Index. décimale : PER Périodiques Résumé : BACKGROUND: There is currently a renaissance of interest in the many functions of cerebrospinal fluid (CSF). Altered flow of CSF, for example, has been shown to impair the clearance of pathogenic inflammatory proteins involved in neurodegenerative diseases, such as amyloid-beta. In addition, the role of CSF in the newly discovered lymphatic system of the brain has become a prominently researched area in clinical neuroscience, as CSF serves as a conduit between the central nervous system and immune system. MAIN BODY: This article will review the importance of CSF in regulating normal brain development and function, from the prenatal period throughout the lifespan, and highlight recent research that CSF abnormalities in autism spectrum disorder (ASD) are present in infancy, are detectable by conventional structural MRI, and could serve as an early indicator of altered neurodevelopment. CONCLUSION: The identification of early CSF abnormalities in children with ASD, along with emerging knowledge of the underlying pathogenic mechanisms, has the potential to serve as early stratification biomarkers that separate children with ASD into biological subtypes that share a common pathophysiology. Such subtypes could help parse the phenotypic heterogeneity of ASD and map on to targeted, biologically based treatments. En ligne : http://dx.doi.org/10.1186/s11689-018-9256-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Imaging episodic memory during development and childhood epilepsy / L. N. SEPETA in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 40 p. Titre : Imaging episodic memory during development and childhood epilepsy Type de document : Texte imprimé et/ou numérique Auteurs : L. N. SEPETA, Auteur ; M. M. BERL, Auteur ; W. D. GAILLARD, Auteur Année de publication : 2018 Article en page(s) : 40 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Epilepsy affects 2.2 million adults in the USA, with 1 in 26 people developing epilepsy at some point in their lives. Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy as medial structures, and the hippocampus in particular, are prone to generating seizures. Selective anterior temporal resection (which removes the hippocampus) is the most effective intractable TLE treatment, but given the critical role of the mesial temporal lobe in memory functioning, resection can have negative effects on this crucial cognitive skill. To minimize the adverse impact of temporal lobe surgery on memory functioning, reliable pre-surgical guides are needed. Clinical functional magnetic resonance imaging (fMRI) provides reliable, noninvasive guidance of language functioning and plays a growing role in the pre-surgical evaluation for epilepsy patients; however, localization of memory function in children with epilepsy using fMRI has not been established. Aside from the lack of neuroimaging memory studies in children with TLE, studies of typical development are limited. This review will focus on the functional anatomy of memory systems throughout development, with a focus on TLE. TLE provides the ideal model from which to understand memory function and the limits of plasticity and compensation/reorganization throughout development. En ligne : http://dx.doi.org/10.1186/s11689-018-9255-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Imaging episodic memory during development and childhood epilepsy [Texte imprimé et/ou numérique] / L. N. SEPETA, Auteur ; M. M. BERL, Auteur ; W. D. GAILLARD, Auteur . - 2018 . - 40 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 40 p. Index. décimale : PER Périodiques Résumé : Epilepsy affects 2.2 million adults in the USA, with 1 in 26 people developing epilepsy at some point in their lives. Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy as medial structures, and the hippocampus in particular, are prone to generating seizures. Selective anterior temporal resection (which removes the hippocampus) is the most effective intractable TLE treatment, but given the critical role of the mesial temporal lobe in memory functioning, resection can have negative effects on this crucial cognitive skill. To minimize the adverse impact of temporal lobe surgery on memory functioning, reliable pre-surgical guides are needed. Clinical functional magnetic resonance imaging (fMRI) provides reliable, noninvasive guidance of language functioning and plays a growing role in the pre-surgical evaluation for epilepsy patients; however, localization of memory function in children with epilepsy using fMRI has not been established. Aside from the lack of neuroimaging memory studies in children with TLE, studies of typical development are limited. This review will focus on the functional anatomy of memory systems throughout development, with a focus on TLE. TLE provides the ideal model from which to understand memory function and the limits of plasticity and compensation/reorganization throughout development. En ligne : http://dx.doi.org/10.1186/s11689-018-9255-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex / M. SCHWEDE in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 18 p. Titre : Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex Type de document : Texte imprimé et/ou numérique Auteurs : M. SCHWEDE, Auteur ; S. NAGPAL, Auteur ; M. J. GANDAL, Auteur ; N. N. PARIKSHAK, Auteur ; K. MIRNICS, Auteur ; D. H. GESCHWIND, Auteur ; E. M. MORROW, Auteur Année de publication : 2018 Article en page(s) : 18 p. Langues : Anglais (eng) Mots-clés : Autism  Cortex  Human  Post-mortem  Transcriptome Index. décimale : PER Périodiques Résumé : BACKGROUND: Genetic studies in autism have pinpointed a heterogeneous group of loci and genes. Further, environment may be an additional factor conferring susceptibility to autism. Transcriptome studies investigate quantitative differences in gene expression between patient-derived tissues and control. These studies may pinpoint genes relevant to pathophysiology yet circumvent the need to understand genetic architecture or gene-by-environment interactions leading to disease. METHODS: We conducted alternate gene set enrichment analyses using differentially expressed genes from a previously published RNA-seq study of post-mortem autism cerebral cortex. We used three previously published microarray datasets for validation and one of the microarray datasets for additional differential expression analysis. The RNA-seq study used 26 autism and 33 control brains in differential gene expression analysis, and the largest microarray dataset contained 15 autism and 16 control post-mortem brains. RESULTS: While performing a gene set enrichment analysis of genes differentially expressed in the RNA-seq study, we discovered that genes associated with mitochondrial function were downregulated in autism cerebral cortex, as compared to control. These genes were correlated with genes related to synaptic function. We validated these findings across the multiple microarray datasets. We also did separate differential expression and gene set enrichment analyses to confirm the importance of the mitochondrial pathway among downregulated genes in post-mortem autism cerebral cortex. CONCLUSIONS: We found that genes related to mitochondrial function were differentially expressed in autism cerebral cortex and correlated with genes related to synaptic transmission. Our principal findings replicate across all datasets investigated. Further, these findings may potentially replicate in other diseases, such as in schizophrenia. En ligne : http://dx.doi.org/10.1186/s11689-018-9237-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex [Texte imprimé et/ou numérique] / M. SCHWEDE, Auteur ; S. NAGPAL, Auteur ; M. J. GANDAL, Auteur ; N. N. PARIKSHAK, Auteur ; K. MIRNICS, Auteur ; D. H. GESCHWIND, Auteur ; E. M. MORROW, Auteur . - 2018 . - 18 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 18 p. Mots-clés : Autism  Cortex  Human  Post-mortem  Transcriptome Index. décimale : PER Périodiques Résumé : BACKGROUND: Genetic studies in autism have pinpointed a heterogeneous group of loci and genes. Further, environment may be an additional factor conferring susceptibility to autism. Transcriptome studies investigate quantitative differences in gene expression between patient-derived tissues and control. These studies may pinpoint genes relevant to pathophysiology yet circumvent the need to understand genetic architecture or gene-by-environment interactions leading to disease. METHODS: We conducted alternate gene set enrichment analyses using differentially expressed genes from a previously published RNA-seq study of post-mortem autism cerebral cortex. We used three previously published microarray datasets for validation and one of the microarray datasets for additional differential expression analysis. The RNA-seq study used 26 autism and 33 control brains in differential gene expression analysis, and the largest microarray dataset contained 15 autism and 16 control post-mortem brains. RESULTS: While performing a gene set enrichment analysis of genes differentially expressed in the RNA-seq study, we discovered that genes associated with mitochondrial function were downregulated in autism cerebral cortex, as compared to control. These genes were correlated with genes related to synaptic function. We validated these findings across the multiple microarray datasets. We also did separate differential expression and gene set enrichment analyses to confirm the importance of the mitochondrial pathway among downregulated genes in post-mortem autism cerebral cortex. CONCLUSIONS: We found that genes related to mitochondrial function were differentially expressed in autism cerebral cortex and correlated with genes related to synaptic transmission. Our principal findings replicate across all datasets investigated. Further, these findings may potentially replicate in other diseases, such as in schizophrenia. En ligne : http://dx.doi.org/10.1186/s11689-018-9237-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Statistical learning as a window into developmental disabilities / Jenny SAFFRAN in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 35 p. Titre : Statistical learning as a window into developmental disabilities Type de document : Texte imprimé et/ou numérique Auteurs : Jenny SAFFRAN, Auteur Année de publication : 2018 Article en page(s) : 35 p. Langues : Anglais (eng) Mots-clés : Autism  Developmental language disorder  Language  Learning  Speech  Williams syndrome Index. décimale : PER Périodiques Résumé : Until recently, most behavioral studies of children with intellectual and developmental disabilities (IDD) have used standardized assessments as a means to probe etiology and to characterize phenotypes. Over the past decade, however, tasks originally developed to investigate learning processes in typical development have been brought to bear on developmental processes in children with IDD.This brief review will focus on one learning process in particular-statistical learning-and will provide an overview of what has been learned thus far from studies using statistical learning tasks with different groups of children with IDD conditions. While a full picture is not yet available, results to date suggest that studies of learning are both feasible and informative about learning processes that may differ across diagnostic groups, particularly as they relate to language acquisition.More generally, studies focused on learning processes may be highly informative about different developmental trajectories both across groups and within groups of children. En ligne : http://dx.doi.org/10.1186/s11689-018-9252-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Statistical learning as a window into developmental disabilities [Texte imprimé et/ou numérique] / Jenny SAFFRAN, Auteur . - 2018 . - 35 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 35 p. Mots-clés : Autism  Developmental language disorder  Language  Learning  Speech  Williams syndrome Index. décimale : PER Périodiques Résumé : Until recently, most behavioral studies of children with intellectual and developmental disabilities (IDD) have used standardized assessments as a means to probe etiology and to characterize phenotypes. Over the past decade, however, tasks originally developed to investigate learning processes in typical development have been brought to bear on developmental processes in children with IDD.This brief review will focus on one learning process in particular-statistical learning-and will provide an overview of what has been learned thus far from studies using statistical learning tasks with different groups of children with IDD conditions. While a full picture is not yet available, results to date suggest that studies of learning are both feasible and informative about learning processes that may differ across diagnostic groups, particularly as they relate to language acquisition.More generally, studies focused on learning processes may be highly informative about different developmental trajectories both across groups and within groups of children. En ligne : http://dx.doi.org/10.1186/s11689-018-9252-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

The reach-to-grasp movement in infants later diagnosed with autism spectrum disorder: a high-risk sibling cohort study / Lori-Ann R. SACREY in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 41 p. Titre : The reach-to-grasp movement in infants later diagnosed with autism spectrum disorder: a high-risk sibling cohort study Type de document : Texte imprimé et/ou numérique Auteurs : Lori-Ann R. SACREY, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Susan E. BRYSON, Auteur ; Jessica BRIAN, Auteur ; I. M. SMITH, Auteur Année de publication : 2018 Article en page(s) : 41 p. Langues : Anglais (eng) Mots-clés : Autism  Autism spectrum disorder  Baby siblings  Infant siblings  Motor  Motor skills  Reaching Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorder (ASD) is characterized by impairments in social communication and the presence of repetitive behavior and/or restricted interests, there is evidence that motor impairments may be a contributing factor to the ASD phenotype. The purpose of this study was to examine the motor act of reaching-to-grasp in children at high risk (HR; with an older sibling diagnosed with ASD) and low-risk (LR; no family history of ASD) for ASD. METHODS: Children were compared for differences in reaching-to-grasp based on sibling status and diagnostic outcome. Children were enrolled between 6 and 12 months of age and the reach-to-grasp movement was scored at 6, 9, (where available) 12, 15, 18, 24, and 36 months of age using the qualitative Skilled Reaching Rating Scale to determine the presence of any group-, age-, or sex-related differences in the mechanics of the reach-to-grasp movement using a Mixed Models analysis. At 36 months, all children underwent a gold-standard diagnostic assessment, which resulted in three outcome groups: HR children diagnosed with ASD (HR-ASD; n = 10), HR children not diagnosed with ASD (HR-N; n = 10), and low-risk children not diagnosed with ASD (LR; n = 10). RESULTS: The group of children who were later diagnosed with ASD (HR-ASD group) showed higher (worse) total scores on the reach-to-grasp movement, as well as higher scores on the components of Orient, Lift, and Pronate compared to children in the LR and HR-N groups. CONCLUSIONS: Our results support the growing literature indicating that children who are later diagnosed with ASD show impaired early motor performance. These results highlight the importance of early surveillance of children who are at elevated risk for ASD, and early initiatives should focus on early signs of the phenotype, including both movement and sensory differences (prodromal signs) prior to the emergence of diagnostic characteristics. En ligne : http://dx.doi.org/10.1186/s11689-018-9259-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] The reach-to-grasp movement in infants later diagnosed with autism spectrum disorder: a high-risk sibling cohort study [Texte imprimé et/ou numérique] / Lori-Ann R. SACREY, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Susan E. BRYSON, Auteur ; Jessica BRIAN, Auteur ; I. M. SMITH, Auteur . - 2018 . - 41 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 41 p. Mots-clés : Autism  Autism spectrum disorder  Baby siblings  Infant siblings  Motor  Motor skills  Reaching Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorder (ASD) is characterized by impairments in social communication and the presence of repetitive behavior and/or restricted interests, there is evidence that motor impairments may be a contributing factor to the ASD phenotype. The purpose of this study was to examine the motor act of reaching-to-grasp in children at high risk (HR; with an older sibling diagnosed with ASD) and low-risk (LR; no family history of ASD) for ASD. METHODS: Children were compared for differences in reaching-to-grasp based on sibling status and diagnostic outcome. Children were enrolled between 6 and 12 months of age and the reach-to-grasp movement was scored at 6, 9, (where available) 12, 15, 18, 24, and 36 months of age using the qualitative Skilled Reaching Rating Scale to determine the presence of any group-, age-, or sex-related differences in the mechanics of the reach-to-grasp movement using a Mixed Models analysis. At 36 months, all children underwent a gold-standard diagnostic assessment, which resulted in three outcome groups: HR children diagnosed with ASD (HR-ASD; n = 10), HR children not diagnosed with ASD (HR-N; n = 10), and low-risk children not diagnosed with ASD (LR; n = 10). RESULTS: The group of children who were later diagnosed with ASD (HR-ASD group) showed higher (worse) total scores on the reach-to-grasp movement, as well as higher scores on the components of Orient, Lift, and Pronate compared to children in the LR and HR-N groups. CONCLUSIONS: Our results support the growing literature indicating that children who are later diagnosed with ASD show impaired early motor performance. These results highlight the importance of early surveillance of children who are at elevated risk for ASD, and early initiatives should focus on early signs of the phenotype, including both movement and sensory differences (prodromal signs) prior to the emergence of diagnostic characteristics. En ligne : http://dx.doi.org/10.1186/s11689-018-9259-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

ADHD-related sex differences in fronto-subcortical intrinsic functional connectivity and associations with delay discounting / K. S. ROSCH in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 34 p. Titre : ADHD-related sex differences in fronto-subcortical intrinsic functional connectivity and associations with delay discounting Type de document : Texte imprimé et/ou numérique Auteurs : K. S. ROSCH, Auteur ; S. H. MOSTOFSKY, Auteur ; M. B. NEBEL, Auteur Année de publication : 2018 Article en page(s) : 34 p. Langues : Anglais (eng) Mots-clés : Adhd  Delay discounting  Functional connectivity  Ica  Resting-state  Reward  Temporal discounting  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is associated with atypical fronto-subcortical neural circuitry and heightened delay discounting, or a stronger preference for smaller, immediate rewards over larger, delayed rewards. Recent evidence of ADHD-related sex differences in brain structure and function suggests anomalies in fronto-subcortical circuitry may differ among girls and boys with ADHD. The current study examined whether the functional connectivity (FC) within fronto-subcortical neural circuitry differs among girls and boys with ADHD compared to same-sex typically developing (TD) controls and relates to delay discounting. METHODS: Participants include 8-12-year-old children with ADHD (n = 72, 20 girls) and TD controls (n = 75, 21 girls). Fronto-subcortical regions of interest were functionally defined by applying independent component analysis to resting-state fMRI data. Intrinsic FC between subcortical components, including the striatum and amygdala, and prefrontal components, including ventromedial prefrontal cortex (vmPFC), anterior cingulate cortex (ACC), and anterior dorsolateral prefrontal cortex (dlPFC), was compared across diagnostic groups overall and within sex. Correlations between intrinsic FC of the six fronto-subcortical pairs and delay discounting were also examined. RESULTS: Both girls and boys with ADHD show atypical FC between vmPFC and subcortical regions including the striatum (stronger positive FC in ADHD) and amygdala (weaker negative FC in ADHD), with the greatest diagnostic effects among girls. In addition, girls with ADHD show atypical intrinsic FC between the striatum and dlPFC components, including stronger positive FC with ACC and stronger negative FC with dlPFC. Further, girls but not boys, with ADHD, show heightened real-time delay discounting. Brain-behavior correlations suggest (1) stronger negative FC between the striatal and dlPFC components correlated with greater money delay discounting across all participants and (2) stronger FC between the amygdala with both the dlPFC and ACC components was differentially related to heightened real-time discounting among girls and boys with and without ADHD. CONCLUSIONS: Our findings suggest fronto-subcortical functional networks are affected in children with ADHD, particularly girls, and relate to delay discounting. These results also provide preliminary evidence of greater disruptions in fronto-subcortical FC among girls with ADHD that is not due to elevated inattention symptom severity, intellectual reasoning ability, age, or head motion. En ligne : http://dx.doi.org/10.1186/s11689-018-9254-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] ADHD-related sex differences in fronto-subcortical intrinsic functional connectivity and associations with delay discounting [Texte imprimé et/ou numérique] / K. S. ROSCH, Auteur ; S. H. MOSTOFSKY, Auteur ; M. B. NEBEL, Auteur . - 2018 . - 34 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 34 p. Mots-clés : Adhd  Delay discounting  Functional connectivity  Ica  Resting-state  Reward  Temporal discounting  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is associated with atypical fronto-subcortical neural circuitry and heightened delay discounting, or a stronger preference for smaller, immediate rewards over larger, delayed rewards. Recent evidence of ADHD-related sex differences in brain structure and function suggests anomalies in fronto-subcortical circuitry may differ among girls and boys with ADHD. The current study examined whether the functional connectivity (FC) within fronto-subcortical neural circuitry differs among girls and boys with ADHD compared to same-sex typically developing (TD) controls and relates to delay discounting. METHODS: Participants include 8-12-year-old children with ADHD (n = 72, 20 girls) and TD controls (n = 75, 21 girls). Fronto-subcortical regions of interest were functionally defined by applying independent component analysis to resting-state fMRI data. Intrinsic FC between subcortical components, including the striatum and amygdala, and prefrontal components, including ventromedial prefrontal cortex (vmPFC), anterior cingulate cortex (ACC), and anterior dorsolateral prefrontal cortex (dlPFC), was compared across diagnostic groups overall and within sex. Correlations between intrinsic FC of the six fronto-subcortical pairs and delay discounting were also examined. RESULTS: Both girls and boys with ADHD show atypical FC between vmPFC and subcortical regions including the striatum (stronger positive FC in ADHD) and amygdala (weaker negative FC in ADHD), with the greatest diagnostic effects among girls. In addition, girls with ADHD show atypical intrinsic FC between the striatum and dlPFC components, including stronger positive FC with ACC and stronger negative FC with dlPFC. Further, girls but not boys, with ADHD, show heightened real-time delay discounting. Brain-behavior correlations suggest (1) stronger negative FC between the striatal and dlPFC components correlated with greater money delay discounting across all participants and (2) stronger FC between the amygdala with both the dlPFC and ACC components was differentially related to heightened real-time discounting among girls and boys with and without ADHD. CONCLUSIONS: Our findings suggest fronto-subcortical functional networks are affected in children with ADHD, particularly girls, and relate to delay discounting. These results also provide preliminary evidence of greater disruptions in fronto-subcortical FC among girls with ADHD that is not due to elevated inattention symptom severity, intellectual reasoning ability, age, or head motion. En ligne : http://dx.doi.org/10.1186/s11689-018-9254-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Aberrant structural and functional connectivity and neurodevelopmental impairment in preterm children / C. E. ROGERS in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 38 p. Titre : Aberrant structural and functional connectivity and neurodevelopmental impairment in preterm children Type de document : Texte imprimé et/ou numérique Auteurs : C. E. ROGERS, Auteur ; R. E. LEAN, Auteur ; M. D. WHEELOCK, Auteur ; C. D. SMYSER, Auteur Année de publication : 2018 Article en page(s) : 38 p. Langues : Anglais (eng) Mots-clés : Functional connectivity  Magnetic resonance imaging  Neurodevelopmental disorders  Prematurity  Structural connectivity Index. décimale : PER Périodiques Résumé : BACKGROUND: Despite advances in antenatal and neonatal care, preterm birth remains a leading cause of neurological disabilities in children. Infants born prematurely, particularly those delivered at the earliest gestational ages, commonly demonstrate increased rates of impairment across multiple neurodevelopmental domains. Indeed, the current literature establishes that preterm birth is a leading risk factor for cerebral palsy, is associated with executive function deficits, increases risk for impaired receptive and expressive language skills, and is linked with higher rates of co-occurring attention deficit hyperactivity disorder, anxiety, and autism spectrum disorders. These same infants also demonstrate elevated rates of aberrant cerebral structural and functional connectivity, with persistent changes evident across advanced magnetic resonance imaging modalities as early as the neonatal period. Emerging findings from cross-sectional and longitudinal investigations increasingly suggest that aberrant connectivity within key functional networks and white matter tracts may underlie the neurodevelopmental impairments common in this population. MAIN BODY: This review begins by highlighting the elevated rates of neurodevelopmental disorders across domains in this clinical population, describes the patterns of aberrant structural and functional connectivity common in prematurely-born infants and children, and then reviews the increasingly established body of literature delineating the relationship between these brain abnormalities and adverse neurodevelopmental outcomes. We also detail important, typically understudied, clinical, and social variables that may influence these relationships among preterm children, including heritability and psychosocial risks. CONCLUSION: Future work in this domain should continue to leverage longitudinal evaluations of preterm infants which include both neuroimaging and detailed serial neurodevelopmental assessments to further characterize relationships between imaging measures and impairment, information necessary for advancing our understanding of modifiable risk factors underlying these disorders and best practices for improving neurodevelopmental trajectories in this high-risk clinical population. En ligne : http://dx.doi.org/10.1186/s11689-018-9253-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Aberrant structural and functional connectivity and neurodevelopmental impairment in preterm children [Texte imprimé et/ou numérique] / C. E. ROGERS, Auteur ; R. E. LEAN, Auteur ; M. D. WHEELOCK, Auteur ; C. D. SMYSER, Auteur . - 2018 . - 38 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 38 p. Mots-clés : Functional connectivity  Magnetic resonance imaging  Neurodevelopmental disorders  Prematurity  Structural connectivity Index. décimale : PER Périodiques Résumé : BACKGROUND: Despite advances in antenatal and neonatal care, preterm birth remains a leading cause of neurological disabilities in children. Infants born prematurely, particularly those delivered at the earliest gestational ages, commonly demonstrate increased rates of impairment across multiple neurodevelopmental domains. Indeed, the current literature establishes that preterm birth is a leading risk factor for cerebral palsy, is associated with executive function deficits, increases risk for impaired receptive and expressive language skills, and is linked with higher rates of co-occurring attention deficit hyperactivity disorder, anxiety, and autism spectrum disorders. These same infants also demonstrate elevated rates of aberrant cerebral structural and functional connectivity, with persistent changes evident across advanced magnetic resonance imaging modalities as early as the neonatal period. Emerging findings from cross-sectional and longitudinal investigations increasingly suggest that aberrant connectivity within key functional networks and white matter tracts may underlie the neurodevelopmental impairments common in this population. MAIN BODY: This review begins by highlighting the elevated rates of neurodevelopmental disorders across domains in this clinical population, describes the patterns of aberrant structural and functional connectivity common in prematurely-born infants and children, and then reviews the increasingly established body of literature delineating the relationship between these brain abnormalities and adverse neurodevelopmental outcomes. We also detail important, typically understudied, clinical, and social variables that may influence these relationships among preterm children, including heritability and psychosocial risks. CONCLUSION: Future work in this domain should continue to leverage longitudinal evaluations of preterm infants which include both neuroimaging and detailed serial neurodevelopmental assessments to further characterize relationships between imaging measures and impairment, information necessary for advancing our understanding of modifiable risk factors underlying these disorders and best practices for improving neurodevelopmental trajectories in this high-risk clinical population. En ligne : http://dx.doi.org/10.1186/s11689-018-9253-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

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)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 21 p. 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 [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

Neurophysiological correlates of holistic face processing in adolescents with and without autism spectrum disorder / S. NAUMANN in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 27 p. Titre : Neurophysiological correlates of holistic face processing in adolescents with and without autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : S. NAUMANN, Auteur ; U. SENFTLEBEN, Auteur ; M. SANTHOSH, Auteur ; J. MCPARTLAND, Auteur ; S. J. WEBB, Auteur Année de publication : 2018 Article en page(s) : 27 p. Langues : Anglais (eng) Mots-clés : Asd  Gamma-band activity  Holistic face processing  N170  P1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Face processing has been found to be impaired in autism spectrum disorders (ASD). One hypothesis is that individuals with ASD engage in piecemeal compared to holistic face processing strategies. To investigate the role of possible impairments in holistic face processing in individuals with autism, the current study investigated behavioral and electroencephalography (EEG) correlates of face processing (P1/N170 and gamma-band activity) in adolescents with ASD and sex-, age-, and IQ-matched neurotypical controls. METHODS: Participants were presented with upright and inverted Mooney stimuli; black and white low information faces that are only perceived as faces when processed holistically. Participants indicated behaviorally the detection of a face. EEG was collected time-locked to the presentation of the stimuli. RESULTS: Adolescents with ASD perceived Mooney stimuli as faces suggesting ability to use holistic processing but displayed a lower face detection rate and slower response times. ERP components suggest slowed temporal processing of Mooney stimuli in the ASD compared to control group for P1 latency but no differences between groups for P1 amplitude and at the N170. Increases in gamma-band activity was similar during the perception of the Mooney images by group, but the ASD group showed prolonged temporal elevation in activity. CONCLUSION: Overall, our results suggest that adolescents with ASD were able to utilize holistic processing to perceive a face within the Mooney stimuli. Delays in early processing, marked by the P1, and elongated elevation in gamma activity indicate that the neural systems supporting holistic processing are slightly altered suggesting a less automatic and less efficient facial processing system. TRIAL REGISTRATION: Non-applicable. En ligne : http://dx.doi.org/10.1186/s11689-018-9244-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Neurophysiological correlates of holistic face processing in adolescents with and without autism spectrum disorder [Texte imprimé et/ou numérique] / S. NAUMANN, Auteur ; U. SENFTLEBEN, Auteur ; M. SANTHOSH, Auteur ; J. MCPARTLAND, Auteur ; S. J. WEBB, Auteur . - 2018 . - 27 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 27 p. Mots-clés : Asd  Gamma-band activity  Holistic face processing  N170  P1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Face processing has been found to be impaired in autism spectrum disorders (ASD). One hypothesis is that individuals with ASD engage in piecemeal compared to holistic face processing strategies. To investigate the role of possible impairments in holistic face processing in individuals with autism, the current study investigated behavioral and electroencephalography (EEG) correlates of face processing (P1/N170 and gamma-band activity) in adolescents with ASD and sex-, age-, and IQ-matched neurotypical controls. METHODS: Participants were presented with upright and inverted Mooney stimuli; black and white low information faces that are only perceived as faces when processed holistically. Participants indicated behaviorally the detection of a face. EEG was collected time-locked to the presentation of the stimuli. RESULTS: Adolescents with ASD perceived Mooney stimuli as faces suggesting ability to use holistic processing but displayed a lower face detection rate and slower response times. ERP components suggest slowed temporal processing of Mooney stimuli in the ASD compared to control group for P1 latency but no differences between groups for P1 amplitude and at the N170. Increases in gamma-band activity was similar during the perception of the Mooney images by group, but the ASD group showed prolonged temporal elevation in activity. CONCLUSION: Overall, our results suggest that adolescents with ASD were able to utilize holistic processing to perceive a face within the Mooney stimuli. Delays in early processing, marked by the P1, and elongated elevation in gamma activity indicate that the neural systems supporting holistic processing are slightly altered suggesting a less automatic and less efficient facial processing system. TRIAL REGISTRATION: Non-applicable. En ligne : http://dx.doi.org/10.1186/s11689-018-9244-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Language delay aggregates in toddler siblings of children with autism spectrum disorder / N. MARRUS in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 29 p. Titre : Language delay aggregates in toddler siblings of children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : N. MARRUS, Auteur ; L. P. HALL, Auteur ; Sarah J. PATERSON, Auteur ; J. T. ELISON, Auteur ; J. J. WOLFF, Auteur ; M. R. SWANSON, Auteur ; Julia PARISH-MORRIS, Auteur ; A. T. EGGEBRECHT, Auteur ; J. R. PRUETT, Auteur ; Heather C. HAZLETT, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Stephen R. DAGER, Auteur ; A. M. ESTES, Auteur ; Robert T. SCHULTZ, Auteur ; Kelly N. BOTTERON, Auteur ; J. PIVEN, Auteur ; John N. CONSTANTINO, Auteur Année de publication : 2018 Article en page(s) : 29 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Development  Endophenotype  Infant sibling  Language Index. décimale : PER Périodiques Résumé : BACKGROUND: Language delay is extremely common in children with autism spectrum disorder (ASD), yet it is unclear whether measurable variation in early language is associated with genetic liability for ASD. Assessment of language development in unaffected siblings of children with ASD can inform whether decreased early language ability aggregates with inherited risk for ASD and serves as an ASD endophenotype. METHODS: We implemented two approaches: (1) a meta-analysis of studies comparing language delay, a categorical indicator of language function, and language scores, a continuous metric, in unaffected toddlers at high and low familial risk for ASD, and (2) a parallel analysis of 350 unaffected 24-month-olds in the Infant Brain Imaging Study (IBIS), a prospective study of infants at high and low familial risk for ASD. An advantage of the former was its detection of group differences from pooled data across unique samples; an advantage of the latter was its sensitivity in quantifying early manifestations of language delay while accounting for covariates within a single large sample. RESULTS: Meta-analysis showed that high-risk siblings without ASD (HR-noASD) were three to four times more likely to exhibit language delay versus low-risk siblings without ASD (LR-noASD) and had lower mean receptive and expressive language scores. Analyses of IBIS data corroborated that language delay, specifically receptive language delay, was more frequent in the HR-noASD (n = 235) versus LR-noASD group (n = 115). IBIS language scores were continuously and unimodally distributed, with a pathological shift towards decreased language function in HR-noASD siblings. The elevated inherited risk for ASD was associated with lower receptive and expressive language scores when controlling for sociodemographic factors. For receptive but not expressive language, the effect of risk group remained significant even when controlling for nonverbal cognition. CONCLUSIONS: Greater frequency of language delay and a lower distribution of language scores in high-risk, unaffected toddler-aged siblings support decreased early language ability as an endophenotype for ASD, with a more pronounced effect for receptive versus expressive language. Further characterization of language development is warranted to refine genetic investigations of ASD and to elucidate factors influencing the progression of core autistic traits and related symptoms. En ligne : http://dx.doi.org/10.1186/s11689-018-9247-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Language delay aggregates in toddler siblings of children with autism spectrum disorder [Texte imprimé et/ou numérique] / N. MARRUS, Auteur ; L. P. HALL, Auteur ; Sarah J. PATERSON, Auteur ; J. T. ELISON, Auteur ; J. J. WOLFF, Auteur ; M. R. SWANSON, Auteur ; Julia PARISH-MORRIS, Auteur ; A. T. EGGEBRECHT, Auteur ; J. R. PRUETT, Auteur ; Heather C. HAZLETT, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Stephen R. DAGER, Auteur ; A. M. ESTES, Auteur ; Robert T. SCHULTZ, Auteur ; Kelly N. BOTTERON, Auteur ; J. PIVEN, Auteur ; John N. CONSTANTINO, Auteur . - 2018 . - 29 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 29 p. Mots-clés : Autism spectrum disorder  Development  Endophenotype  Infant sibling  Language Index. décimale : PER Périodiques Résumé : BACKGROUND: Language delay is extremely common in children with autism spectrum disorder (ASD), yet it is unclear whether measurable variation in early language is associated with genetic liability for ASD. Assessment of language development in unaffected siblings of children with ASD can inform whether decreased early language ability aggregates with inherited risk for ASD and serves as an ASD endophenotype. METHODS: We implemented two approaches: (1) a meta-analysis of studies comparing language delay, a categorical indicator of language function, and language scores, a continuous metric, in unaffected toddlers at high and low familial risk for ASD, and (2) a parallel analysis of 350 unaffected 24-month-olds in the Infant Brain Imaging Study (IBIS), a prospective study of infants at high and low familial risk for ASD. An advantage of the former was its detection of group differences from pooled data across unique samples; an advantage of the latter was its sensitivity in quantifying early manifestations of language delay while accounting for covariates within a single large sample. RESULTS: Meta-analysis showed that high-risk siblings without ASD (HR-noASD) were three to four times more likely to exhibit language delay versus low-risk siblings without ASD (LR-noASD) and had lower mean receptive and expressive language scores. Analyses of IBIS data corroborated that language delay, specifically receptive language delay, was more frequent in the HR-noASD (n = 235) versus LR-noASD group (n = 115). IBIS language scores were continuously and unimodally distributed, with a pathological shift towards decreased language function in HR-noASD siblings. The elevated inherited risk for ASD was associated with lower receptive and expressive language scores when controlling for sociodemographic factors. For receptive but not expressive language, the effect of risk group remained significant even when controlling for nonverbal cognition. CONCLUSIONS: Greater frequency of language delay and a lower distribution of language scores in high-risk, unaffected toddler-aged siblings support decreased early language ability as an endophenotype for ASD, with a more pronounced effect for receptive versus expressive language. Further characterization of language development is warranted to refine genetic investigations of ASD and to elucidate factors influencing the progression of core autistic traits and related symptoms. En ligne : http://dx.doi.org/10.1186/s11689-018-9247-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Recent progress and considerations for AAV gene therapies targeting the central nervous system / E. A. LYKKEN in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 16 p. Titre : Recent progress and considerations for AAV gene therapies targeting the central nervous system Type de document : Texte imprimé et/ou numérique Auteurs : E. A. LYKKEN, Auteur ; C. SHYNG, Auteur ; R. J. EDWARDS, Auteur ; A. ROZENBERG, Auteur ; S. J. GRAY, Auteur Année de publication : 2018 Article en page(s) : 16 p. Langues : Anglais (eng) Mots-clés : Aav9  Adeno-associated virus  Cellular immunity  Central nervous system  Clinical trial  Gene therapy  Neutralizing antibody Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders, as a class of diseases, have been particularly difficult to treat even when the underlying cause(s), such as genetic alterations, are understood. What treatments do exist are generally not curative and instead seek to improve quality of life for affected individuals. The advent of gene therapy via gene replacement offers the potential for transformative therapies to slow or even stop disease progression for current patients and perhaps minimize or prevent the appearance of symptoms in future patients. MAIN BODY: This review focuses on adeno-associated virus (AAV) gene therapies for diseases of the central nervous system. An overview of advances in AAV vector design for therapy is provided, along with a description of current strategies to develop AAV vectors with tailored tropism. Next, progress towards treatment of neurodegenerative diseases is presented at both the pre-clinical and clinical stages, focusing on a few select diseases to highlight broad categories of therapeutic parameters. Special considerations for more challenging cases are then discussed in addition to the immunological aspects of gene therapy. CONCLUSION: With the promising clinical trial results that have been observed for the latest AAV gene therapies and continued pre-clinical successes, the question is no longer whether a therapy can be developed for certain neurodevelopmental disorders, but rather, how quickly. En ligne : http://dx.doi.org/10.1186/s11689-018-9234-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Recent progress and considerations for AAV gene therapies targeting the central nervous system [Texte imprimé et/ou numérique] / E. A. LYKKEN, Auteur ; C. SHYNG, Auteur ; R. J. EDWARDS, Auteur ; A. ROZENBERG, Auteur ; S. J. GRAY, Auteur . - 2018 . - 16 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 16 p. Mots-clés : Aav9  Adeno-associated virus  Cellular immunity  Central nervous system  Clinical trial  Gene therapy  Neutralizing antibody Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders, as a class of diseases, have been particularly difficult to treat even when the underlying cause(s), such as genetic alterations, are understood. What treatments do exist are generally not curative and instead seek to improve quality of life for affected individuals. The advent of gene therapy via gene replacement offers the potential for transformative therapies to slow or even stop disease progression for current patients and perhaps minimize or prevent the appearance of symptoms in future patients. MAIN BODY: This review focuses on adeno-associated virus (AAV) gene therapies for diseases of the central nervous system. An overview of advances in AAV vector design for therapy is provided, along with a description of current strategies to develop AAV vectors with tailored tropism. Next, progress towards treatment of neurodegenerative diseases is presented at both the pre-clinical and clinical stages, focusing on a few select diseases to highlight broad categories of therapeutic parameters. Special considerations for more challenging cases are then discussed in addition to the immunological aspects of gene therapy. CONCLUSION: With the promising clinical trial results that have been observed for the latest AAV gene therapies and continued pre-clinical successes, the question is no longer whether a therapy can be developed for certain neurodevelopmental disorders, but rather, how quickly. En ligne : http://dx.doi.org/10.1186/s11689-018-9234-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Visual subcircuit-specific dysfunction and input-specific mispatterning in the superior colliculus of fragile X mice / R. B. KAY in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 23 p. Titre : Visual subcircuit-specific dysfunction and input-specific mispatterning in the superior colliculus of fragile X mice Type de document : Texte imprimé et/ou numérique Auteurs : R. B. KAY, Auteur ; N. A. GABRESKI, Auteur ; J. W. TRIPLETT, Auteur Année de publication : 2018 Article en page(s) : 23 p. Langues : Anglais (eng) Mots-clés : Axis selective  Direction selective  Receptive field Index. décimale : PER Périodiques Résumé : BACKGROUND: Sensory processing deficits are frequently co-morbid with neurodevelopmental disorders. For example, patients with fragile X syndrome (FXS), caused by a silencing of the FMR1 gene, exhibit impairments in visual function specific to the dorsal system, which processes motion information. However, the developmental and circuit mechanisms underlying this deficit remain unclear. Recently, the superior colliculus (SC), a midbrain structure regulating head and eye movements, has emerged as a model for dissecting visual circuit development and function. Previous studies have demonstrated a critical role for activity-dependent processes in the development of visual circuitry in the SC. Based on the known role of the FMR1 gene product in activity-dependent synaptic plasticity, we explored the function and organization of visual circuits in the SC of a mouse model of FXS (Fmr1(-/y)). METHODS: We utilized in vivo extracellular electrophysiology in combination with computer-controlled visual stimuli to determine the receptive field properties of visual neurons in the SC of control and Fmr1(-/y) mice. In addition, we utilized anatomical tracing methods to assess the organization of visual inputs to the SC and along the retinogeniculocortical pathway. RESULTS: Receptive fields of visual neurons in the SC of Fmr1(-/y) mice were significantly larger than those found in control animals, though their shape and structure were unaffected. Further, selectivity for direction of movement was decreased, while selectivity to axis of movement was unchanged. Interestingly, axis-selective (AS) neurons exhibited a specific hyperexcitability in comparison to AS neurons in control SC and to direction-selective (DS) neurons in both control and Fmr1(-/y) SC. Anatomical tracings revealed that retinocollicular, retinogeniculate, and geniculocortical projections were normally organized in the absence of Fmr1. However, projections from primary visual cortex (V1) to the SC were poorly refined. CONCLUSIONS: Fmr1 is required for the proper development of visual circuit organization and function in the SC. We find that visual dysfunction is heterogeneously manifested in a subcircuit-specific manner in Fmr1(-/y) mice, consistent with previous studies in human FXS patients. Further, we show a specific alteration of inputs to the SC from V1, but not the retina. Together, these data suggest that Fmr1 may function in distinct ways during the development of different visual subcircuits. En ligne : http://dx.doi.org/10.1186/s11689-018-9241-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Visual subcircuit-specific dysfunction and input-specific mispatterning in the superior colliculus of fragile X mice [Texte imprimé et/ou numérique] / R. B. KAY, Auteur ; N. A. GABRESKI, Auteur ; J. W. TRIPLETT, Auteur . - 2018 . - 23 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 23 p. Mots-clés : Axis selective  Direction selective  Receptive field Index. décimale : PER Périodiques Résumé : BACKGROUND: Sensory processing deficits are frequently co-morbid with neurodevelopmental disorders. For example, patients with fragile X syndrome (FXS), caused by a silencing of the FMR1 gene, exhibit impairments in visual function specific to the dorsal system, which processes motion information. However, the developmental and circuit mechanisms underlying this deficit remain unclear. Recently, the superior colliculus (SC), a midbrain structure regulating head and eye movements, has emerged as a model for dissecting visual circuit development and function. Previous studies have demonstrated a critical role for activity-dependent processes in the development of visual circuitry in the SC. Based on the known role of the FMR1 gene product in activity-dependent synaptic plasticity, we explored the function and organization of visual circuits in the SC of a mouse model of FXS (Fmr1(-/y)). METHODS: We utilized in vivo extracellular electrophysiology in combination with computer-controlled visual stimuli to determine the receptive field properties of visual neurons in the SC of control and Fmr1(-/y) mice. In addition, we utilized anatomical tracing methods to assess the organization of visual inputs to the SC and along the retinogeniculocortical pathway. RESULTS: Receptive fields of visual neurons in the SC of Fmr1(-/y) mice were significantly larger than those found in control animals, though their shape and structure were unaffected. Further, selectivity for direction of movement was decreased, while selectivity to axis of movement was unchanged. Interestingly, axis-selective (AS) neurons exhibited a specific hyperexcitability in comparison to AS neurons in control SC and to direction-selective (DS) neurons in both control and Fmr1(-/y) SC. Anatomical tracings revealed that retinocollicular, retinogeniculate, and geniculocortical projections were normally organized in the absence of Fmr1. However, projections from primary visual cortex (V1) to the SC were poorly refined. CONCLUSIONS: Fmr1 is required for the proper development of visual circuit organization and function in the SC. We find that visual dysfunction is heterogeneously manifested in a subcircuit-specific manner in Fmr1(-/y) mice, consistent with previous studies in human FXS patients. Further, we show a specific alteration of inputs to the SC from V1, but not the retina. Together, these data suggest that Fmr1 may function in distinct ways during the development of different visual subcircuits. En ligne : http://dx.doi.org/10.1186/s11689-018-9241-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome / L. JOSEPH in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 30 p. Titre : Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome Type de document : Texte imprimé et/ou numérique Auteurs : L. JOSEPH, Auteur ; C. FARMER, Auteur ; C. CHLEBOWSKI, Auteur ; L. HENRY, Auteur ; A. FISH, Auteur ; C. MANKIW, Auteur ; A. XENOPHONTOS, Auteur ; L. CLASEN, Auteur ; B. SAULS, Auteur ; J. SEIDLITZ, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; E. TORRES, Auteur ; A. THURM, Auteur ; A. RAZNAHAN, Auteur Année de publication : 2018 Article en page(s) : 30 p. Langues : Anglais (eng) Mots-clés : Adaptive behavior  Autism spectrum disorder symptoms  Cognitive functioning  Learning disabilities  Sex chromosome aneuploidies Index. décimale : PER Périodiques Résumé : BACKGROUND: XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data. METHODS: We evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD. Our goals were to (i) detail the neurodevelopmental profile of XYY with a focus on ASD diagnostic rates and symptom profiles, (ii) screen phenotypes for potential ascertainment bias effects by contrasting pre- vs. postnatally diagnosed XYY subgroups, and (iii) define major modules of phenotypic variation using graph-theoretical analysis. RESULTS: Although there was marked inter-individual variability, the average profile was characterized by some degree of developmental delay, and decreased IQ and adaptive behavior. Impairments were most pronounced for language and socio-communicative functioning. The rate of ASD was 14%, and these individuals exhibited autism symptom profiles resembling those observed in ASD without XYY. Most neurodevelopmental dimensions showed milder impairment among pre- vs. postnatally diagnosed individuals, with clinically meaningful differences in verbal IQ. Feature network analysis revealed three reliably separable modules comprising (i) cognition and academic achievement, (ii) broad domain psychopathology and adaptive behavior, and (iii) ASD-related features. CONCLUSIONS: By adding granularity to our understanding of neurodevelopmental difficulties in XYY, these findings assist targeted clinical assessment of newly identified cases, motivate greater provision of specialized multidisciplinary support, and inform future efforts to integrate behavioral phenotypes in XYY with neurobiology. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls." En ligne : http://dx.doi.org/10.1186/s11689-018-9248-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome [Texte imprimé et/ou numérique] / L. JOSEPH, Auteur ; C. FARMER, Auteur ; C. CHLEBOWSKI, Auteur ; L. HENRY, Auteur ; A. FISH, Auteur ; C. MANKIW, Auteur ; A. XENOPHONTOS, Auteur ; L. CLASEN, Auteur ; B. SAULS, Auteur ; J. SEIDLITZ, Auteur ; Jonathan D. BLUMENTHAL, Auteur ; E. TORRES, Auteur ; A. THURM, Auteur ; A. RAZNAHAN, Auteur . - 2018 . - 30 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 30 p. Mots-clés : Adaptive behavior  Autism spectrum disorder symptoms  Cognitive functioning  Learning disabilities  Sex chromosome aneuploidies Index. décimale : PER Périodiques Résumé : BACKGROUND: XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data. METHODS: We evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD. Our goals were to (i) detail the neurodevelopmental profile of XYY with a focus on ASD diagnostic rates and symptom profiles, (ii) screen phenotypes for potential ascertainment bias effects by contrasting pre- vs. postnatally diagnosed XYY subgroups, and (iii) define major modules of phenotypic variation using graph-theoretical analysis. RESULTS: Although there was marked inter-individual variability, the average profile was characterized by some degree of developmental delay, and decreased IQ and adaptive behavior. Impairments were most pronounced for language and socio-communicative functioning. The rate of ASD was 14%, and these individuals exhibited autism symptom profiles resembling those observed in ASD without XYY. Most neurodevelopmental dimensions showed milder impairment among pre- vs. postnatally diagnosed individuals, with clinically meaningful differences in verbal IQ. Feature network analysis revealed three reliably separable modules comprising (i) cognition and academic achievement, (ii) broad domain psychopathology and adaptive behavior, and (iii) ASD-related features. CONCLUSIONS: By adding granularity to our understanding of neurodevelopmental difficulties in XYY, these findings assist targeted clinical assessment of newly identified cases, motivate greater provision of specialized multidisciplinary support, and inform future efforts to integrate behavioral phenotypes in XYY with neurobiology. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls." En ligne : http://dx.doi.org/10.1186/s11689-018-9248-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Inaugural annual special section of the intellectual and developmental disabilities research centers: developmental cognitive neuroscience and neurodevelopmental disorders / S. S. JESTE in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 36 p. Titre : Inaugural annual special section of the intellectual and developmental disabilities research centers: developmental cognitive neuroscience and neurodevelopmental disorders Type de document : Texte imprimé et/ou numérique Auteurs : S. S. JESTE, Auteur ; C. A. NELSON, Auteur Année de publication : 2018 Article en page(s) : 36 p. Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/s11689-018-9258-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Inaugural annual special section of the intellectual and developmental disabilities research centers: developmental cognitive neuroscience and neurodevelopmental disorders [Texte imprimé et/ou numérique] / S. S. JESTE, Auteur ; C. A. NELSON, Auteur . - 2018 . - 36 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 36 p. Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1186/s11689-018-9258-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Substance use and nicotine dependence in persistent, remittent, and late-onset ADHD: a 10-year longitudinal study from childhood to young adulthood / S. ILBEGI in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 42 p. Titre : Substance use and nicotine dependence in persistent, remittent, and late-onset ADHD: a 10-year longitudinal study from childhood to young adulthood Type de document : Texte imprimé et/ou numérique Auteurs : S. ILBEGI, Auteur ; A. P. GROENMAN, Auteur ; A. SCHELLEKENS, Auteur ; Catharina A. HARTMAN, Auteur ; P. J. HOEKSTRA, Auteur ; B. FRANKE, Auteur ; S. V. FARAONE, Auteur ; Nanda N. ROMMELSE, Auteur ; Jan K. BUITELAAR, Auteur Année de publication : 2018 Article en page(s) : 42 p. Langues : Anglais (eng) Mots-clés : ADHD course  Late-onset ADHD  Nicotine dependence  Substance use disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is associated with substance use disorders (SUD; alcohol and/or drug dependence) and nicotine dependence. This study aims to advance our knowledge about the association between SUD, nicotine dependence, and the course of ADHD (persistent versus remittent ADHD and late-onset ADHD). METHODS: ADHD, SUD, and nicotine dependence were longitudinally assessed (mean age at study entry 11.3 years, mean age at follow-up 21.1 years) using structured psychiatric interviews and multi-informant questionnaires in a subsample of the Dutch part of the International Multicenter ADHD Genetics study. Individuals with persistent ADHD (n = 62), remittent ADHD (n = 12), late-onset ADHD (n = 18; age of onset after 12 years), unaffected siblings (n = 50), and healthy controls (n = 47) were assessed. Hazard ratios (HR) with 95% confidence intervals (CIs) were estimated by Cox regression and adjusted for clustered family data, gender, follow-up length, and current age. RESULTS: Individuals with persistent ADHD were at significantly higher risk of development of SUD relative to healthy controls (HR = 4.56, CI 1.17-17.81). In contrast, levels of SUD in those with remittent ADHD were not different from healthy controls (HR = 1.00, CI .07-13.02). ADHD persisters had also higher prevalence rates of nicotine dependence (24.2%) than ADHD remitters (16.7%) and healthy controls (4.3%). A similar pattern was found in initially unaffected siblings who met ADHD criteria at follow-up ("late-onset" ADHD); they had also a higher prevalence of SUD (33%) compared to stable unaffected siblings (20%) and were at significantly increased risk of development of nicotine dependence compared to healthy controls (HR = 13.04, CI 2.08-81.83). CONCLUSIONS: SUD and nicotine dependence are associated with a negative ADHD outcome. Results further emphasize the need for clinicians to comprehensively assess substance use when diagnosing ADHD in adolescents and adults. En ligne : http://dx.doi.org/10.1186/s11689-018-9260-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Substance use and nicotine dependence in persistent, remittent, and late-onset ADHD: a 10-year longitudinal study from childhood to young adulthood [Texte imprimé et/ou numérique] / S. ILBEGI, Auteur ; A. P. GROENMAN, Auteur ; A. SCHELLEKENS, Auteur ; Catharina A. HARTMAN, Auteur ; P. J. HOEKSTRA, Auteur ; B. FRANKE, Auteur ; S. V. FARAONE, Auteur ; Nanda N. ROMMELSE, Auteur ; Jan K. BUITELAAR, Auteur . - 2018 . - 42 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 42 p. Mots-clés : ADHD course  Late-onset ADHD  Nicotine dependence  Substance use disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is associated with substance use disorders (SUD; alcohol and/or drug dependence) and nicotine dependence. This study aims to advance our knowledge about the association between SUD, nicotine dependence, and the course of ADHD (persistent versus remittent ADHD and late-onset ADHD). METHODS: ADHD, SUD, and nicotine dependence were longitudinally assessed (mean age at study entry 11.3 years, mean age at follow-up 21.1 years) using structured psychiatric interviews and multi-informant questionnaires in a subsample of the Dutch part of the International Multicenter ADHD Genetics study. Individuals with persistent ADHD (n = 62), remittent ADHD (n = 12), late-onset ADHD (n = 18; age of onset after 12 years), unaffected siblings (n = 50), and healthy controls (n = 47) were assessed. Hazard ratios (HR) with 95% confidence intervals (CIs) were estimated by Cox regression and adjusted for clustered family data, gender, follow-up length, and current age. RESULTS: Individuals with persistent ADHD were at significantly higher risk of development of SUD relative to healthy controls (HR = 4.56, CI 1.17-17.81). In contrast, levels of SUD in those with remittent ADHD were not different from healthy controls (HR = 1.00, CI .07-13.02). ADHD persisters had also higher prevalence rates of nicotine dependence (24.2%) than ADHD remitters (16.7%) and healthy controls (4.3%). A similar pattern was found in initially unaffected siblings who met ADHD criteria at follow-up ("late-onset" ADHD); they had also a higher prevalence of SUD (33%) compared to stable unaffected siblings (20%) and were at significantly increased risk of development of nicotine dependence compared to healthy controls (HR = 13.04, CI 2.08-81.83). CONCLUSIONS: SUD and nicotine dependence are associated with a negative ADHD outcome. Results further emphasize the need for clinicians to comprehensively assess substance use when diagnosing ADHD in adolescents and adults. En ligne : http://dx.doi.org/10.1186/s11689-018-9260-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

The effects of intranasal oxytocin on reward circuitry responses in children with autism spectrum disorder / R. K. GREENE in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 12 p. Titre : The effects of intranasal oxytocin on reward circuitry responses in children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : R. K. GREENE, Auteur ; M. SPANOS, Auteur ; C. ALDERMAN, Auteur ; E. WALSH, Auteur ; Joshua BIZZELL, Auteur ; M. G. MOSNER, Auteur ; J. L. KINARD, Auteur ; G. D. STUBER, Auteur ; Tara CHANDRASEKHAR, Auteur ; L. C. POLITTE, Auteur ; L. SIKICH, Auteur ; Gabriel S. DICHTER, Auteur Année de publication : 2018 Article en page(s) : 12 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Oxytocin  Reward  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Intranasal oxytocin (OT) has been shown to improve social communication functioning of individuals with autism spectrum disorder (ASD) and, thus, has received considerable interest as a potential ASD therapeutic agent. Although preclinical research indicates that OT modulates the functional output of the mesocorticolimbic dopamine system that processes rewards, no clinical brain imaging study to date has examined the effects of OT on this system using a reward processing paradigm. To address this, we used an incentive delay task to examine the effects of a single dose of intranasal OT, versus placebo (PLC), on neural responses to social and nonsocial rewards in children with ASD. METHODS: In this placebo-controlled double-blind study, 28 children and adolescents with ASD (age: M = 13.43 years, SD = 2.36) completed two fMRI scans, one after intranasal OT administration and one after PLC administration. During both scanning sessions, participants completed social and nonsocial incentive delay tasks. Task-based neural activation and connectivity were examined to assess the impact of OT relative to PLC on mesocorticolimbic brain responses to social and nonsocial reward anticipation and outcomes. RESULTS: Central analyses compared the OT and PLC conditions. During nonsocial reward anticipation, there was greater activation in the right nucleus accumbens (NAcc), left anterior cingulate cortex (ACC), bilateral orbital frontal cortex (OFC), left superior frontal cortex, and right frontal pole (FP) during the OT condition relative to PLC. Alternatively, during social reward anticipation and outcomes, there were no significant increases in brain activation during the OT condition relative to PLC. A Treatment Group x Reward Condition interaction revealed relatively greater activation in the right NAcc, right caudate nucleus, left ACC, and right OFC during nonsocial relative to social reward anticipation during the OT condition relative to PLC. Additionally, these analyses revealed greater activation during nonsocial reward outcomes during the OT condition relative to PLC in the right OFC and left FP. Finally, functional connectivity analyses generally revealed changes in frontostriatal connections during the OT condition relative to PLC in response to nonsocial, but not social, rewards. CONCLUSIONS: The effects of intranasal OT administration on mesocorticolimbic brain systems that process rewards in ASD were observable primarily during the processing of nonsocial incentive salience stimuli. These findings have implications for understanding the effects of OT on neural systems that process rewards, as well as for experimental trials of novel ASD treatments developed to ameliorate social communication impairments in ASD. En ligne : http://dx.doi.org/10.1186/s11689-018-9228-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] The effects of intranasal oxytocin on reward circuitry responses in children with autism spectrum disorder [Texte imprimé et/ou numérique] / R. K. GREENE, Auteur ; M. SPANOS, Auteur ; C. ALDERMAN, Auteur ; E. WALSH, Auteur ; Joshua BIZZELL, Auteur ; M. G. MOSNER, Auteur ; J. L. KINARD, Auteur ; G. D. STUBER, Auteur ; Tara CHANDRASEKHAR, Auteur ; L. C. POLITTE, Auteur ; L. SIKICH, Auteur ; Gabriel S. DICHTER, Auteur . - 2018 . - 12 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 12 p. Mots-clés : Autism spectrum disorder  Oxytocin  Reward  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Intranasal oxytocin (OT) has been shown to improve social communication functioning of individuals with autism spectrum disorder (ASD) and, thus, has received considerable interest as a potential ASD therapeutic agent. Although preclinical research indicates that OT modulates the functional output of the mesocorticolimbic dopamine system that processes rewards, no clinical brain imaging study to date has examined the effects of OT on this system using a reward processing paradigm. To address this, we used an incentive delay task to examine the effects of a single dose of intranasal OT, versus placebo (PLC), on neural responses to social and nonsocial rewards in children with ASD. METHODS: In this placebo-controlled double-blind study, 28 children and adolescents with ASD (age: M = 13.43 years, SD = 2.36) completed two fMRI scans, one after intranasal OT administration and one after PLC administration. During both scanning sessions, participants completed social and nonsocial incentive delay tasks. Task-based neural activation and connectivity were examined to assess the impact of OT relative to PLC on mesocorticolimbic brain responses to social and nonsocial reward anticipation and outcomes. RESULTS: Central analyses compared the OT and PLC conditions. During nonsocial reward anticipation, there was greater activation in the right nucleus accumbens (NAcc), left anterior cingulate cortex (ACC), bilateral orbital frontal cortex (OFC), left superior frontal cortex, and right frontal pole (FP) during the OT condition relative to PLC. Alternatively, during social reward anticipation and outcomes, there were no significant increases in brain activation during the OT condition relative to PLC. A Treatment Group x Reward Condition interaction revealed relatively greater activation in the right NAcc, right caudate nucleus, left ACC, and right OFC during nonsocial relative to social reward anticipation during the OT condition relative to PLC. Additionally, these analyses revealed greater activation during nonsocial reward outcomes during the OT condition relative to PLC in the right OFC and left FP. Finally, functional connectivity analyses generally revealed changes in frontostriatal connections during the OT condition relative to PLC in response to nonsocial, but not social, rewards. CONCLUSIONS: The effects of intranasal OT administration on mesocorticolimbic brain systems that process rewards in ASD were observable primarily during the processing of nonsocial incentive salience stimuli. These findings have implications for understanding the effects of OT on neural systems that process rewards, as well as for experimental trials of novel ASD treatments developed to ameliorate social communication impairments in ASD. En ligne : http://dx.doi.org/10.1186/s11689-018-9228-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Improving social gaze behavior in fragile X syndrome using a behavioral skills training approach: a proof of concept study / C. E. GANNON in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 25 p. Titre : Improving social gaze behavior in fragile X syndrome using a behavioral skills training approach: a proof of concept study Type de document : Texte imprimé et/ou numérique Auteurs : C. E. GANNON, Auteur ; T. C. BRITTON, Auteur ; E. H. WILKINSON, Auteur ; S. S. HALL, Auteur Année de publication : 2018 Article en page(s) : 25 p. Langues : Anglais (eng) Mots-clés : Behavioral treatment  Fragile X syndrome  Social gaze behavior Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals diagnosed with fragile X syndrome (FXS), the most common known inherited form of intellectual disability, commonly exhibit significant impairments in social gaze behavior during interactions with others. Although this behavior can restrict social development and limit educational opportunities, behavioral interventions designed to improve social gaze behavior have not been developed for this population. In this proof of concept (PoC) study, we examined whether administering a behavioral skills training package-discrete trial instruction (DTI) plus relaxation training-could increase social gaze duration in males with FXS. METHODS: As part of a larger clinical trial, 20 boys with FXS, aged 8 to 18 years, were randomized to receive DTI plus relaxation training administered at one of two prescribed doses over a 2-day period at our research center. Potential improvements in social gaze behavior were evaluated by direct observations conducted across trials during the training, and generalization effects were examined by administering a social challenge before and after the treatment. During the social challenge, social gaze behavior was recorded using an eye tracker and physiological arousal levels were simultaneously recorded by monitoring the child's heart rate. RESULTS: Levels of social gaze behavior increased significantly across blocks of training trials for six (60%) boys who received the high-dose behavioral treatment and for three (30%) boys who received the low-dose behavioral treatment. Boys who received the high-dose treatment also showed greater improvements in social gaze behavior during the social challenge compared to boys who received the low-dose treatment. There was no effect of the treatment on physiological arousal levels recorded on the heart rate monitor at either dose. CONCLUSIONS: These results suggest that appropriate social gaze behavior can be successfully taught to boys with FXS using a standardized behavioral skills training approach. Future studies will need to evaluate whether younger children with FXS might benefit from this treatment, and/or whether more naturalistic forms of behavioral skills training might be beneficial, before social gaze avoidance becomes established in the child's repertoire. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02616796 . Registered 30 November 2015. En ligne : http://dx.doi.org/10.1186/s11689-018-9243-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Improving social gaze behavior in fragile X syndrome using a behavioral skills training approach: a proof of concept study [Texte imprimé et/ou numérique] / C. E. GANNON, Auteur ; T. C. BRITTON, Auteur ; E. H. WILKINSON, Auteur ; S. S. HALL, Auteur . - 2018 . - 25 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 25 p. Mots-clés : Behavioral treatment  Fragile X syndrome  Social gaze behavior Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals diagnosed with fragile X syndrome (FXS), the most common known inherited form of intellectual disability, commonly exhibit significant impairments in social gaze behavior during interactions with others. Although this behavior can restrict social development and limit educational opportunities, behavioral interventions designed to improve social gaze behavior have not been developed for this population. In this proof of concept (PoC) study, we examined whether administering a behavioral skills training package-discrete trial instruction (DTI) plus relaxation training-could increase social gaze duration in males with FXS. METHODS: As part of a larger clinical trial, 20 boys with FXS, aged 8 to 18 years, were randomized to receive DTI plus relaxation training administered at one of two prescribed doses over a 2-day period at our research center. Potential improvements in social gaze behavior were evaluated by direct observations conducted across trials during the training, and generalization effects were examined by administering a social challenge before and after the treatment. During the social challenge, social gaze behavior was recorded using an eye tracker and physiological arousal levels were simultaneously recorded by monitoring the child's heart rate. RESULTS: Levels of social gaze behavior increased significantly across blocks of training trials for six (60%) boys who received the high-dose behavioral treatment and for three (30%) boys who received the low-dose behavioral treatment. Boys who received the high-dose treatment also showed greater improvements in social gaze behavior during the social challenge compared to boys who received the low-dose treatment. There was no effect of the treatment on physiological arousal levels recorded on the heart rate monitor at either dose. CONCLUSIONS: These results suggest that appropriate social gaze behavior can be successfully taught to boys with FXS using a standardized behavioral skills training approach. Future studies will need to evaluate whether younger children with FXS might benefit from this treatment, and/or whether more naturalistic forms of behavioral skills training might be beneficial, before social gaze avoidance becomes established in the child's repertoire. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02616796 . Registered 30 November 2015. En ligne : http://dx.doi.org/10.1186/s11689-018-9243-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Neural correlates of socio-emotional perception in 22q11.2 deletion syndrome / L. DUBOURG in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 13 p. Titre : Neural correlates of socio-emotional perception in 22q11.2 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : L. DUBOURG, Auteur ; P. VRTICKA, Auteur ; M. DEBBANE, Auteur ; L. CHAMBAZ, Auteur ; S. ELIEZ, Auteur ; M. SCHNEIDER, Auteur Année de publication : 2018 Article en page(s) : 13 p. Langues : Anglais (eng) Mots-clés : 22q11.2 deletion syndrome  Default mode network  Socio-emotional perception  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Social impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS). However, the neural correlates underlying these impairments are largely unknown in this population. In this study, we investigated neural substrates of socio-emotional perception. METHODS: We used event-related functional magnetic resonance imaging (fMRI) to explore neural activity in individuals with 22q11DS and healthy controls during the visualization of stimuli varying in social (social or non-social) or emotional (positive or negative valence) content. RESULTS: Neural hyporesponsiveness in regions of the default mode network (inferior parietal lobule, precuneus, posterior and anterior cingulate cortex and frontal regions) in response to social versus non-social images was found in the 22q11DS population compared to controls. A similar pattern of activation for positive and negative emotional processing was observed in the two groups. No correlation between neural activation and social functioning was observed in patients with the 22q11DS. Finally, no social x valence interaction impairment was found in patients. CONCLUSIONS: Our results indicate atypical neural correlates of social perception in 22q11DS that appear to be independent of valence processing. Abnormalities in the social perception network may lead to social impairments observed in 22q11DS individuals. En ligne : http://dx.doi.org/10.1186/s11689-018-9232-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Neural correlates of socio-emotional perception in 22q11.2 deletion syndrome [Texte imprimé et/ou numérique] / L. DUBOURG, Auteur ; P. VRTICKA, Auteur ; M. DEBBANE, Auteur ; L. CHAMBAZ, Auteur ; S. ELIEZ, Auteur ; M. SCHNEIDER, Auteur . - 2018 . - 13 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 13 p. Mots-clés : 22q11.2 deletion syndrome  Default mode network  Socio-emotional perception  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: Social impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS). However, the neural correlates underlying these impairments are largely unknown in this population. In this study, we investigated neural substrates of socio-emotional perception. METHODS: We used event-related functional magnetic resonance imaging (fMRI) to explore neural activity in individuals with 22q11DS and healthy controls during the visualization of stimuli varying in social (social or non-social) or emotional (positive or negative valence) content. RESULTS: Neural hyporesponsiveness in regions of the default mode network (inferior parietal lobule, precuneus, posterior and anterior cingulate cortex and frontal regions) in response to social versus non-social images was found in the 22q11DS population compared to controls. A similar pattern of activation for positive and negative emotional processing was observed in the two groups. No correlation between neural activation and social functioning was observed in patients with the 22q11DS. Finally, no social x valence interaction impairment was found in patients. CONCLUSIONS: Our results indicate atypical neural correlates of social perception in 22q11DS that appear to be independent of valence processing. Abnormalities in the social perception network may lead to social impairments observed in 22q11DS individuals. En ligne : http://dx.doi.org/10.1186/s11689-018-9232-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome / L. DEL HOYO SORIANO in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 22 p. Titre : Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : L. DEL HOYO SORIANO, Auteur ; A. J. THURMAN, Auteur ; D. J. HARVEY, Auteur ; W. Ted BROWN, Auteur ; Leonard ABBEDUTO, Auteur Année de publication : 2018 Article en page(s) : 22 p. Langues : Anglais (eng) Mots-clés : Anxiety  Closeness in the mother-child relationship  Crystallized intelligence  Fmrp  Females with FXS  Fluid intelligence  Longitudinal  Maternal psychological distress  Ratio of affected to total chromosomes  Withdrawal Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, leading to decreased levels of FMR1 protein (FMRP), which causes the array of neuropsychological impairments that define FXS. Because FXS is an X-linked condition, fewer females display FXS and females with FXS are more mildly affected than males, on average. However, there is a considerable variability in terms of severity of affectedness among females with FXS. The current study was designed to investigate potential genetic (FMRP level and ratio of affected to total chromosomes) and environmental factors (maternal psychological distress and closeness in the mother-child relationship) influencing the cognitive (fluid and crystallized intelligence) and behavioral (anxiety and withdrawal) phenotype of females with FXS. METHODS: We conducted a prospective 3-year longitudinal study of 16 females with FXS (with up to four assessments, each separated by a year) using an accelerated longitudinal design so that we had coverage of the age range of 10-15 years at study start and 13-18 at study end. We focused on both the level of functioning related to chronological age expectations (standard scores) and absolute change in skill (raw scores) over the 3-year period. RESULTS: At a cross-sectional level, fluid intelligence and crystallized intelligence were both predicted by a closer mother-child relationship and lower maternal psychological distress. However, only fluid intelligence was predicted by a lower ratio of affected to total chromosomes. Anxiety and withdrawal were predicted by a higher ratio of affected to total chromosomes. Withdrawal was also predicted by lower closeness in the mother-child relationship and higher maternal distress. In terms of longitudinal change, gains were observed in fluid and crystallized intelligence, whereas anxious and withdrawn behaviors remained stable over visits. Gains in fluid intelligence were solely predicted by FXS biomarkers (higher FMRP level and lower ratio of affected to total chromosomes), while gains in crystallized intelligence were not predicted by any of the biological and environmental variables. CONCLUSIONS: Our results show that FXS biomarkers and maternal variables contribute differentially to the cognitive and behavioral features of the adolescent female with FXS. These findings can help in the design of treatment studies aimed at enhancing cognitive and behavioral abilities in the FXS population. En ligne : http://dx.doi.org/10.1186/s11689-018-9240-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome [Texte imprimé et/ou numérique] / L. DEL HOYO SORIANO, Auteur ; A. J. THURMAN, Auteur ; D. J. HARVEY, Auteur ; W. Ted BROWN, Auteur ; Leonard ABBEDUTO, Auteur . - 2018 . - 22 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 22 p. Mots-clés : Anxiety  Closeness in the mother-child relationship  Crystallized intelligence  Fmrp  Females with FXS  Fluid intelligence  Longitudinal  Maternal psychological distress  Ratio of affected to total chromosomes  Withdrawal Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, leading to decreased levels of FMR1 protein (FMRP), which causes the array of neuropsychological impairments that define FXS. Because FXS is an X-linked condition, fewer females display FXS and females with FXS are more mildly affected than males, on average. However, there is a considerable variability in terms of severity of affectedness among females with FXS. The current study was designed to investigate potential genetic (FMRP level and ratio of affected to total chromosomes) and environmental factors (maternal psychological distress and closeness in the mother-child relationship) influencing the cognitive (fluid and crystallized intelligence) and behavioral (anxiety and withdrawal) phenotype of females with FXS. METHODS: We conducted a prospective 3-year longitudinal study of 16 females with FXS (with up to four assessments, each separated by a year) using an accelerated longitudinal design so that we had coverage of the age range of 10-15 years at study start and 13-18 at study end. We focused on both the level of functioning related to chronological age expectations (standard scores) and absolute change in skill (raw scores) over the 3-year period. RESULTS: At a cross-sectional level, fluid intelligence and crystallized intelligence were both predicted by a closer mother-child relationship and lower maternal psychological distress. However, only fluid intelligence was predicted by a lower ratio of affected to total chromosomes. Anxiety and withdrawal were predicted by a higher ratio of affected to total chromosomes. Withdrawal was also predicted by lower closeness in the mother-child relationship and higher maternal distress. In terms of longitudinal change, gains were observed in fluid and crystallized intelligence, whereas anxious and withdrawn behaviors remained stable over visits. Gains in fluid intelligence were solely predicted by FXS biomarkers (higher FMRP level and lower ratio of affected to total chromosomes), while gains in crystallized intelligence were not predicted by any of the biological and environmental variables. CONCLUSIONS: Our results show that FXS biomarkers and maternal variables contribute differentially to the cognitive and behavioral features of the adolescent female with FXS. These findings can help in the design of treatment studies aimed at enhancing cognitive and behavioral abilities in the FXS population. En ligne : http://dx.doi.org/10.1186/s11689-018-9240-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders / A. DE SENA CORTABITARTE in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 15 p. Titre : A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders Type de document : Texte imprimé et/ou numérique Auteurs : A. DE SENA CORTABITARTE, Auteur ; S. BERKEL, Auteur ; F. B. CRISTIAN, Auteur ; C. FISCHER, Auteur ; G. A. RAPPOLD, Auteur Année de publication : 2018 Article en page(s) : 15 p. Langues : Anglais (eng) Mots-clés : Autism  Intellectual disability  Shank2  Schizophrenia  miR-137  microRNA Index. décimale : PER Périodiques Résumé : BACKGROUND: Mutations in the SHANK genes, which encode postsynaptic scaffolding proteins, have been linked to a spectrum of neurodevelopmental disorders. The SHANK genes and the schizophrenia-associated microRNA-137 show convergence on several levels, as they are both expressed at the synapse, influence neuronal development, and have a strong link to neurodevelopmental and neuropsychiatric disorders like intellectual disability, autism, and schizophrenia. This compiled evidence raised the question if the SHANKs might be targets of miR-137. METHODS: In silico analysis revealed a putative binding site for microRNA-137 (miR-137) in the SHANK2 3'UTR, while this was not the case for SHANK1 and SHANK3. Luciferase reporter assays were performed by overexpressing wild type and mutated SHANK2-3'UTR and miR-137 in human neuroblastoma cells and mouse primary hippocampal neurons. miR-137 was also overexpressed or inhibited in hippocampal neurons, and Shank2 expression was analyzed by quantitative real-time PCR and Western blot. Additionally, expression levels of experimentally validated miR-137 target genes were analyzed in the dorsolateral prefrontal cortex (DLPFC) of schizophrenia and control individuals using the RNA-Seq data from the CommonMind Consortium. RESULTS: miR-137 directly targets the 3'UTR of SHANK2 in a site-specific manner. Overexpression of miR-137 in mouse primary hippocampal neurons significantly lowered endogenous Shank2 protein levels without detectable influence on mRNA levels. Conversely, miR-137 inhibition increased Shank2 protein expression, indicating that miR-137 regulates SHANK2 expression by repressing protein translation rather than inducing mRNA degradation. To find out if the miR-137 signaling network is altered in schizophrenia, we compared miR-137 precursor and miR-137 target gene expression in the DLPFC of schizophrenia and control individuals using the CommonMind Consortium RNA sequencing data. Differential expression of 23% (16/69) of known miR-137 target genes was detected in the DLPFC of schizophrenia individuals compared with controls. We propose that in further targets (e.g., SHANK2, as described in this paper) which are not regulated on RNA level, effects may only be detectable on protein level. CONCLUSION: Our study provides evidence that a direct regulatory link exists between miR-137 and SHANK2 and supports the finding that miR-137 signaling might be altered in schizophrenia. En ligne : http://dx.doi.org/10.1186/s11689-018-9233-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders [Texte imprimé et/ou numérique] / A. DE SENA CORTABITARTE, Auteur ; S. BERKEL, Auteur ; F. B. CRISTIAN, Auteur ; C. FISCHER, Auteur ; G. A. RAPPOLD, Auteur . - 2018 . - 15 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 15 p. Mots-clés : Autism  Intellectual disability  Shank2  Schizophrenia  miR-137  microRNA Index. décimale : PER Périodiques Résumé : BACKGROUND: Mutations in the SHANK genes, which encode postsynaptic scaffolding proteins, have been linked to a spectrum of neurodevelopmental disorders. The SHANK genes and the schizophrenia-associated microRNA-137 show convergence on several levels, as they are both expressed at the synapse, influence neuronal development, and have a strong link to neurodevelopmental and neuropsychiatric disorders like intellectual disability, autism, and schizophrenia. This compiled evidence raised the question if the SHANKs might be targets of miR-137. METHODS: In silico analysis revealed a putative binding site for microRNA-137 (miR-137) in the SHANK2 3'UTR, while this was not the case for SHANK1 and SHANK3. Luciferase reporter assays were performed by overexpressing wild type and mutated SHANK2-3'UTR and miR-137 in human neuroblastoma cells and mouse primary hippocampal neurons. miR-137 was also overexpressed or inhibited in hippocampal neurons, and Shank2 expression was analyzed by quantitative real-time PCR and Western blot. Additionally, expression levels of experimentally validated miR-137 target genes were analyzed in the dorsolateral prefrontal cortex (DLPFC) of schizophrenia and control individuals using the RNA-Seq data from the CommonMind Consortium. RESULTS: miR-137 directly targets the 3'UTR of SHANK2 in a site-specific manner. Overexpression of miR-137 in mouse primary hippocampal neurons significantly lowered endogenous Shank2 protein levels without detectable influence on mRNA levels. Conversely, miR-137 inhibition increased Shank2 protein expression, indicating that miR-137 regulates SHANK2 expression by repressing protein translation rather than inducing mRNA degradation. To find out if the miR-137 signaling network is altered in schizophrenia, we compared miR-137 precursor and miR-137 target gene expression in the DLPFC of schizophrenia and control individuals using the CommonMind Consortium RNA sequencing data. Differential expression of 23% (16/69) of known miR-137 target genes was detected in the DLPFC of schizophrenia individuals compared with controls. We propose that in further targets (e.g., SHANK2, as described in this paper) which are not regulated on RNA level, effects may only be detectable on protein level. CONCLUSION: Our study provides evidence that a direct regulatory link exists between miR-137 and SHANK2 and supports the finding that miR-137 signaling might be altered in schizophrenia. En ligne : http://dx.doi.org/10.1186/s11689-018-9233-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Development of fine motor skills is associated with expressive language outcomes in infants at high and low risk for autism spectrum disorder / B. CHOI in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 14 p. Titre : Development of fine motor skills is associated with expressive language outcomes in infants at high and low risk for autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : B. CHOI, Auteur ; K. A. LEECH, Auteur ; Helen TAGER-FLUSBERG, Auteur ; C. A. NELSON, Auteur Année de publication : 2018 Article en page(s) : 14 p. Langues : Anglais (eng) Mots-clés : Autism  Early development  Expressive language  Fine motor skills  Infant siblings Index. décimale : PER Périodiques Résumé : BACKGROUND: A growing body of research suggests that fine motor abilities are associated with skills in a variety of domains in both typical and atypical development. In this study, we investigated developmental trajectories of fine motor skills between 6 and 24 months in relation to expressive language outcomes at 36 months in infants at high and low familial risk for autism spectrum disorder (ASD). METHODS: Participants included 71 high-risk infants without ASD diagnoses, 30 high-risk infants later diagnosed with ASD, and 69 low-risk infants without ASD diagnoses. As part of a prospective, longitudinal study, fine motor skills were assessed at 6, 12, 18, and 24 months of age and expressive language outcomes at 36 months using the Mullen Scales of Early Learning. Diagnosis of ASD was determined at the infant's last visit to the lab (18, 24, or 36 months) using the Autism Diagnostic Observation Schedule. RESULTS: Hierarchical linear modeling revealed that high-risk infants who later developed ASD showed significantly slower growth in fine motor skills between 6 and 24 months, compared to their typically developing peers. In contrast to group differences in growth from age 6 months, cross-sectional group differences emerged only in the second year of life. Also, fine motor skills at 6 months predicted expressive language outcomes at 3 years of age. CONCLUSIONS: These results highlight the importance of utilizing longitudinal approaches in measuring early fine motor skills to reveal subtle group differences in infancy between ASD high-risk and low-risk infant populations and to predict their subsequent language outcomes. En ligne : http://dx.doi.org/10.1186/s11689-018-9231-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Development of fine motor skills is associated with expressive language outcomes in infants at high and low risk for autism spectrum disorder [Texte imprimé et/ou numérique] / B. CHOI, Auteur ; K. A. LEECH, Auteur ; Helen TAGER-FLUSBERG, Auteur ; C. A. NELSON, Auteur . - 2018 . - 14 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 14 p. Mots-clés : Autism  Early development  Expressive language  Fine motor skills  Infant siblings Index. décimale : PER Périodiques Résumé : BACKGROUND: A growing body of research suggests that fine motor abilities are associated with skills in a variety of domains in both typical and atypical development. In this study, we investigated developmental trajectories of fine motor skills between 6 and 24 months in relation to expressive language outcomes at 36 months in infants at high and low familial risk for autism spectrum disorder (ASD). METHODS: Participants included 71 high-risk infants without ASD diagnoses, 30 high-risk infants later diagnosed with ASD, and 69 low-risk infants without ASD diagnoses. As part of a prospective, longitudinal study, fine motor skills were assessed at 6, 12, 18, and 24 months of age and expressive language outcomes at 36 months using the Mullen Scales of Early Learning. Diagnosis of ASD was determined at the infant's last visit to the lab (18, 24, or 36 months) using the Autism Diagnostic Observation Schedule. RESULTS: Hierarchical linear modeling revealed that high-risk infants who later developed ASD showed significantly slower growth in fine motor skills between 6 and 24 months, compared to their typically developing peers. In contrast to group differences in growth from age 6 months, cross-sectional group differences emerged only in the second year of life. Also, fine motor skills at 6 months predicted expressive language outcomes at 3 years of age. CONCLUSIONS: These results highlight the importance of utilizing longitudinal approaches in measuring early fine motor skills to reveal subtle group differences in infancy between ASD high-risk and low-risk infant populations and to predict their subsequent language outcomes. En ligne : http://dx.doi.org/10.1186/s11689-018-9231-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Emotional prosodic change detection in autism Spectrum disorder: an electrophysiological investigation in children and adults / J. CHARPENTIER in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 28 p. Titre : Emotional prosodic change detection in autism Spectrum disorder: an electrophysiological investigation in children and adults Type de document : Texte imprimé et/ou numérique Auteurs : J. CHARPENTIER, Auteur ; K. KOVARSKI, Auteur ; Emmanuelle HOUY-DURAND, Auteur ; J. MALVY, Auteur ; A. SABY, Auteur ; Frédérique BONNET-BRILHAULT, Auteur ; Marianne LATINUS, Auteur ; Marie GOMOT, Auteur Année de publication : 2018 Article en page(s) : 28 p. Langues : Anglais (eng) Mots-clés : Adults  Autism spectrum disorder  Change detection  Children  Eeg  Emotion  Mismatch negativity (MMN)  Prosody Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is characterized by atypical behaviors in social environments and in reaction to changing events. While this dyad of symptoms is at the core of the pathology along with atypical sensory behaviors, most studies have investigated only one dimension. A focus on the sameness dimension has shown that intolerance to change is related to an atypical pre-attentional detection of irregularity. In the present study, we addressed the same process in response to emotional change in order to evaluate the interplay between alterations of change detection and socio-emotional processing in children and adults with autism. METHODS: Brain responses to neutral and emotional prosodic deviancies (mismatch negativity (MMN) and P3a, reflecting change detection and orientation of attention toward change, respectively) were recorded in children and adults with autism and in controls. Comparison of neutral and emotional conditions allowed distinguishing between general deviancy and emotional deviancy effects. Moreover, brain responses to the same neutral and emotional stimuli were recorded when they were not deviants to evaluate the sensory processing of these vocal stimuli. RESULTS: In controls, change detection was modulated by prosody: in children, this was characterized by a lateralization of emotional MMN to the right hemisphere, and in adults, by an earlier MMN for emotional deviancy than for neutral deviancy. In ASD, an overall atypical change detection was observed with an earlier MMN and a larger P3a compared to controls suggesting an unusual pre-attentional orientation toward any changes in the auditory environment. Moreover, in children with autism, deviancy detection depicted reduced MMN amplitude. In addition in children with autism, contrary to adults with autism, no modulation of the MMN by prosody was present and sensory processing of both neutral and emotional vocal stimuli appeared atypical. CONCLUSIONS: Overall, change detection remains altered in people with autism. However, differences between children and adults with ASD evidence a trend toward normalization of vocal processing and of the automatic detection of emotion deviancy with age. En ligne : http://dx.doi.org/10.1186/s11689-018-9246-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Emotional prosodic change detection in autism Spectrum disorder: an electrophysiological investigation in children and adults [Texte imprimé et/ou numérique] / J. CHARPENTIER, Auteur ; K. KOVARSKI, Auteur ; Emmanuelle HOUY-DURAND, Auteur ; J. MALVY, Auteur ; A. SABY, Auteur ; Frédérique BONNET-BRILHAULT, Auteur ; Marianne LATINUS, Auteur ; Marie GOMOT, Auteur . - 2018 . - 28 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 28 p. Mots-clés : Adults  Autism spectrum disorder  Change detection  Children  Eeg  Emotion  Mismatch negativity (MMN)  Prosody Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) is characterized by atypical behaviors in social environments and in reaction to changing events. While this dyad of symptoms is at the core of the pathology along with atypical sensory behaviors, most studies have investigated only one dimension. A focus on the sameness dimension has shown that intolerance to change is related to an atypical pre-attentional detection of irregularity. In the present study, we addressed the same process in response to emotional change in order to evaluate the interplay between alterations of change detection and socio-emotional processing in children and adults with autism. METHODS: Brain responses to neutral and emotional prosodic deviancies (mismatch negativity (MMN) and P3a, reflecting change detection and orientation of attention toward change, respectively) were recorded in children and adults with autism and in controls. Comparison of neutral and emotional conditions allowed distinguishing between general deviancy and emotional deviancy effects. Moreover, brain responses to the same neutral and emotional stimuli were recorded when they were not deviants to evaluate the sensory processing of these vocal stimuli. RESULTS: In controls, change detection was modulated by prosody: in children, this was characterized by a lateralization of emotional MMN to the right hemisphere, and in adults, by an earlier MMN for emotional deviancy than for neutral deviancy. In ASD, an overall atypical change detection was observed with an earlier MMN and a larger P3a compared to controls suggesting an unusual pre-attentional orientation toward any changes in the auditory environment. Moreover, in children with autism, deviancy detection depicted reduced MMN amplitude. In addition in children with autism, contrary to adults with autism, no modulation of the MMN by prosody was present and sensory processing of both neutral and emotional vocal stimuli appeared atypical. CONCLUSIONS: Overall, change detection remains altered in people with autism. However, differences between children and adults with ASD evidence a trend toward normalization of vocal processing and of the automatic detection of emotion deviancy with age. En ligne : http://dx.doi.org/10.1186/s11689-018-9246-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes / E. K. BAKER in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 24 p. Titre : Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes Type de document : Texte imprimé et/ou numérique Auteurs : E. K. BAKER, Auteur ; D. E. GODLER, Auteur ; M. BUI, Auteur ; C. HICKERTON, Auteur ; C. ROGERS, Auteur ; M. FIELD, Auteur ; D. J. AMOR, Auteur ; L. BRETHERTON, Auteur Année de publication : 2018 Article en page(s) : 24 p. Langues : Anglais (eng) Mots-clés : Ados  Angelman syndrome  Autism  Iq  Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. METHODS: This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region. RESULTS: Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p = .0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain. CONCLUSIONS: PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS. En ligne : http://dx.doi.org/10.1186/s11689-018-9242-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes [Texte imprimé et/ou numérique] / E. K. BAKER, Auteur ; D. E. GODLER, Auteur ; M. BUI, Auteur ; C. HICKERTON, Auteur ; C. ROGERS, Auteur ; M. FIELD, Auteur ; D. J. AMOR, Auteur ; L. BRETHERTON, Auteur . - 2018 . - 24 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 24 p. Mots-clés : Ados  Angelman syndrome  Autism  Iq  Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. METHODS: This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region. RESULTS: Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p = .0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain. CONCLUSIONS: PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS. En ligne : http://dx.doi.org/10.1186/s11689-018-9242-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Applying a network framework to the neurobiology of reading and dyslexia / S. K. BAILEY in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 37 p. Titre : Applying a network framework to the neurobiology of reading and dyslexia Type de document : Texte imprimé et/ou numérique Auteurs : S. K. BAILEY, Auteur ; K. S. ABOUD, Auteur ; T. Q. NGUYEN, Auteur ; L. E. CUTTING, Auteur Année de publication : 2018 Article en page(s) : 37 p. Langues : Anglais (eng) Mots-clés : Brain network  Dyslexia  Functional MRI  Graph theory  Individual differences  Language  Reading Index. décimale : PER Périodiques Résumé : BACKGROUND: There is a substantial literature on the neurobiology of reading and dyslexia. Differences are often described in terms of individual regions or individual cognitive processes. However, there is a growing appreciation that the brain areas subserving reading are nested within larger functional systems, and new network analysis methods may provide greater insight into how reading difficulty arises. Yet, relatively few studies have adopted a principled network-based approach (e.g., connectomics) to studying reading. In this study, we combine data from previous reading literature, connectomics studies, and original data to investigate the relationship between network architecture and reading. METHODS: First, we detailed the distribution of reading-related areas across many resting-state networks using meta-analytic data from NeuroSynth. Then, we tested whether individual differences in modularity, the brain's tendency to segregate into resting-state networks, are related to reading skill. Finally, we determined whether brain areas that function atypically in dyslexia, as identified by previous meta-analyses, tend to be concentrated in hub regions. RESULTS: We found that most resting-state networks contributed to the reading network, including those subserving domain-general cognitive skills such as attention and executive function. There was also a positive relationship between the global modularity of an individual's brain network and reading skill, with the visual, default mode and cingulo-opercular networks showing the highest correlations. Brain areas implicated in dyslexia were also significantly more likely to have a higher participation coefficient (connect to multiple resting-state networks) than other areas. CONCLUSIONS: These results contribute to the growing literature on the relationship between reading and brain network architecture. They suggest that an efficient network organization, i.e., one in which brain areas form cohesive resting-state networks, is important for skilled reading, and that dyslexia can be characterized by abnormal functioning of hub regions that map information between multiple systems. Overall, use of a connectomics framework opens up new possibilities for investigating reading difficulty, especially its commonalities across other neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-018-9251-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Applying a network framework to the neurobiology of reading and dyslexia [Texte imprimé et/ou numérique] / S. K. BAILEY, Auteur ; K. S. ABOUD, Auteur ; T. Q. NGUYEN, Auteur ; L. E. CUTTING, Auteur . - 2018 . - 37 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 37 p. Mots-clés : Brain network  Dyslexia  Functional MRI  Graph theory  Individual differences  Language  Reading Index. décimale : PER Périodiques Résumé : BACKGROUND: There is a substantial literature on the neurobiology of reading and dyslexia. Differences are often described in terms of individual regions or individual cognitive processes. However, there is a growing appreciation that the brain areas subserving reading are nested within larger functional systems, and new network analysis methods may provide greater insight into how reading difficulty arises. Yet, relatively few studies have adopted a principled network-based approach (e.g., connectomics) to studying reading. In this study, we combine data from previous reading literature, connectomics studies, and original data to investigate the relationship between network architecture and reading. METHODS: First, we detailed the distribution of reading-related areas across many resting-state networks using meta-analytic data from NeuroSynth. Then, we tested whether individual differences in modularity, the brain's tendency to segregate into resting-state networks, are related to reading skill. Finally, we determined whether brain areas that function atypically in dyslexia, as identified by previous meta-analyses, tend to be concentrated in hub regions. RESULTS: We found that most resting-state networks contributed to the reading network, including those subserving domain-general cognitive skills such as attention and executive function. There was also a positive relationship between the global modularity of an individual's brain network and reading skill, with the visual, default mode and cingulo-opercular networks showing the highest correlations. Brain areas implicated in dyslexia were also significantly more likely to have a higher participation coefficient (connect to multiple resting-state networks) than other areas. CONCLUSIONS: These results contribute to the growing literature on the relationship between reading and brain network architecture. They suggest that an efficient network organization, i.e., one in which brain areas form cohesive resting-state networks, is important for skilled reading, and that dyslexia can be characterized by abnormal functioning of hub regions that map information between multiple systems. Overall, use of a connectomics framework opens up new possibilities for investigating reading difficulty, especially its commonalities across other neurodevelopmental disorders. En ligne : http://dx.doi.org/10.1186/s11689-018-9251-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386