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

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

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

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

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

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

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

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 12p. Titre : Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA) Type de document : Texte imprimé et/ou numérique Auteurs : S. STIVAROS, Auteur ; S. GARG, Auteur ; M. TZIRAKI, Auteur ; Y. CAI, Auteur ; O. THOMAS, Auteur ; J. MELLOR, Auteur ; A. A. MORRIS, Auteur ; C. JIM, Auteur ; K. SZUMANSKA-RYT, Auteur ; L. M. PARKES, Auteur ; H. A. HAROON, Auteur ; D. MONTALDI, Auteur ; N. WEBB, Auteur ; J. KEANE, Auteur ; Francisco Xavier CASTELLANOS, Auteur ; A. J. SILVA, Auteur ; S. HUSON, Auteur ; S. WILLIAMS, Auteur ; D. GARETH EVANS, Auteur ; R. EMSLEY, Auteur ; J. GREEN, Auteur Article en page(s) : 12p. Langues : Anglais (eng) Mots-clés : Autism  Neurofibromatosis type 1  Neuroimaging  Randomised controlled trial  Simvastatin  Statin Index. décimale : PER Périodiques Résumé : Background: Neurofibromatosis 1 (NF1) is a monogenic model for syndromic autism. Statins rescue the social and cognitive phenotype in animal knockout models, but translational trials with subjects > 8 years using cognition/behaviour outcomes have shown mixed results. This trial breaks new ground by studying statin effects for the first time in younger children with NF1 and co-morbid autism and by using multiparametric imaging outcomes. Methods: A single-site triple-blind RCT of simvastatin vs. placebo was done. Assessment (baseline and 12-week endpoint) included peripheral MAPK assay, awake magnetic resonance imaging spectroscopy (MRS; GABA and glutamate+glutamine (Glx)), arterial spin labelling (ASL), apparent diffusion coefficient (ADC), resting state functional MRI, and autism behavioural outcomes (Aberrant Behaviour Checklist and Clinical Global Impression). Results: Thirty subjects had a mean age of 8.1 years (SD 1.8). Simvastatin was well tolerated. The amount of imaging data varied by test. Simvastatin treatment was associated with (i) increased frontal white matter MRS GABA (t(12) = - 2.12, p = .055), GABA/Glx ratio (t(12) = - 2.78, p = .016), and reduced grey nuclei Glx (ANCOVA p < 0.05, Mann-Whitney p < 0.01); (ii) increased ASL perfusion in ventral diencephalon (Mann-Whitney p < 0.01); and (iii) decreased ADC in cingulate gyrus (Mann-Whitney p < 0.01). Machine-learning classification of imaging outcomes achieved 79% (p < .05) accuracy differentiating groups at endpoint against chance level (64%, p = 0.25) at baseline. Three of 12 (25%) simvastatin cases compared to none in placebo met 'clinical responder' criteria for behavioural outcome. Conclusions: We show feasibility of peripheral MAPK assay and autism symptom measurement, but the study was not powered to test effectiveness. Multiparametric imaging suggests possible simvastatin effects in brain areas previously associated with NF1 pathophysiology and the social brain network. Trial registration: EU Clinical Trial Register (EudraCT) 2012-005742-38 (www.clinicaltrialsregister.eu). En ligne : http://dx.doi.org/10.1186/s13229-018-0190-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=354 [article] Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA) [Texte imprimé et/ou numérique] / S. STIVAROS, Auteur ; S. GARG, Auteur ; M. TZIRAKI, Auteur ; Y. CAI, Auteur ; O. THOMAS, Auteur ; J. MELLOR, Auteur ; A. A. MORRIS, Auteur ; C. JIM, Auteur ; K. SZUMANSKA-RYT, Auteur ; L. M. PARKES, Auteur ; H. A. HAROON, Auteur ; D. MONTALDI, Auteur ; N. WEBB, Auteur ; J. KEANE, Auteur ; Francisco Xavier CASTELLANOS, Auteur ; A. J. SILVA, Auteur ; S. HUSON, Auteur ; S. WILLIAMS, Auteur ; D. GARETH EVANS, Auteur ; R. EMSLEY, Auteur ; J. GREEN, Auteur . - 12p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 12p. Mots-clés : Autism  Neurofibromatosis type 1  Neuroimaging  Randomised controlled trial  Simvastatin  Statin Index. décimale : PER Périodiques Résumé : Background: Neurofibromatosis 1 (NF1) is a monogenic model for syndromic autism. Statins rescue the social and cognitive phenotype in animal knockout models, but translational trials with subjects > 8 years using cognition/behaviour outcomes have shown mixed results. This trial breaks new ground by studying statin effects for the first time in younger children with NF1 and co-morbid autism and by using multiparametric imaging outcomes. Methods: A single-site triple-blind RCT of simvastatin vs. placebo was done. Assessment (baseline and 12-week endpoint) included peripheral MAPK assay, awake magnetic resonance imaging spectroscopy (MRS; GABA and glutamate+glutamine (Glx)), arterial spin labelling (ASL), apparent diffusion coefficient (ADC), resting state functional MRI, and autism behavioural outcomes (Aberrant Behaviour Checklist and Clinical Global Impression). Results: Thirty subjects had a mean age of 8.1 years (SD 1.8). Simvastatin was well tolerated. The amount of imaging data varied by test. Simvastatin treatment was associated with (i) increased frontal white matter MRS GABA (t(12) = - 2.12, p = .055), GABA/Glx ratio (t(12) = - 2.78, p = .016), and reduced grey nuclei Glx (ANCOVA p < 0.05, Mann-Whitney p < 0.01); (ii) increased ASL perfusion in ventral diencephalon (Mann-Whitney p < 0.01); and (iii) decreased ADC in cingulate gyrus (Mann-Whitney p < 0.01). Machine-learning classification of imaging outcomes achieved 79% (p < .05) accuracy differentiating groups at endpoint against chance level (64%, p = 0.25) at baseline. Three of 12 (25%) simvastatin cases compared to none in placebo met 'clinical responder' criteria for behavioural outcome. Conclusions: We show feasibility of peripheral MAPK assay and autism symptom measurement, but the study was not powered to test effectiveness. Multiparametric imaging suggests possible simvastatin effects in brain areas previously associated with NF1 pathophysiology and the social brain network. Trial registration: EU Clinical Trial Register (EudraCT) 2012-005742-38 (www.clinicaltrialsregister.eu). En ligne : http://dx.doi.org/10.1186/s13229-018-0190-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=354

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

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.26 Titre : Sex bias in autism spectrum disorder in neurofibromatosis type 1 Type de document : Texte imprimé et/ou numérique Auteurs : S. GARG, Auteur ; Hein HEUVELMAN, Auteur ; S. HUSON, Auteur ; H. TOBIN, Auteur ; J. GREEN, Auteur Article en page(s) : p.26 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Neurofibromatosis type 1  Sex bias  Syndromic autism Index. décimale : PER Périodiques Résumé : BACKGROUND: Despite extensive literature, little is known about the mechanisms underlying sex bias in autism spectrum disorder (ASD). This study investigates the sex differences in ASD associated with neurofibromatosis type 1, a single-gene model of syndromic autism. METHODS: We analysed data from n = 194 children aged 4-16 years with neurofibromatosis type 1. Sex differences were evaluated across the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS), verbal IQ, Social Responsiveness Scale (SRS) and Conners questionnaires. RESULTS: There was 2.68:1 male:female ratio in children meeting ASD criteria on the deep phenotyping measures. On symptom profile, males with neurofibromatosis type 1 (NF1) + ASD were more impaired on reciprocal social interaction and communication domains of the ADI-R but we found no differences on the restricted, repetitive behaviours (RRBs) domain of the ADI-R and no differences on the social on the ADOS. NF1 ASD males and females were comparable on verbal IQ, and the inattention/hyperactivity domains of the Conners questionnaire. CONCLUSIONS: There is a significant male bias in the prevalence of ASD in NF1. The phenotypic profile of NF1 + ASD cases includes greater social communication impairment in males. We discuss the implications of our findings and the rationale for using NF1 as a model for investigating sex bias in idiopathic ASD. En ligne : http://dx.doi.org/10.1186/s11689-016-9159-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 [article] Sex bias in autism spectrum disorder in neurofibromatosis type 1 [Texte imprimé et/ou numérique] / S. GARG, Auteur ; Hein HEUVELMAN, Auteur ; S. HUSON, Auteur ; H. TOBIN, Auteur ; J. GREEN, Auteur . - p.26. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.26 Mots-clés : Autism spectrum disorder  Neurofibromatosis type 1  Sex bias  Syndromic autism Index. décimale : PER Périodiques Résumé : BACKGROUND: Despite extensive literature, little is known about the mechanisms underlying sex bias in autism spectrum disorder (ASD). This study investigates the sex differences in ASD associated with neurofibromatosis type 1, a single-gene model of syndromic autism. METHODS: We analysed data from n = 194 children aged 4-16 years with neurofibromatosis type 1. Sex differences were evaluated across the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS), verbal IQ, Social Responsiveness Scale (SRS) and Conners questionnaires. RESULTS: There was 2.68:1 male:female ratio in children meeting ASD criteria on the deep phenotyping measures. On symptom profile, males with neurofibromatosis type 1 (NF1) + ASD were more impaired on reciprocal social interaction and communication domains of the ADI-R but we found no differences on the restricted, repetitive behaviours (RRBs) domain of the ADI-R and no differences on the social on the ADOS. NF1 ASD males and females were comparable on verbal IQ, and the inattention/hyperactivity domains of the Conners questionnaire. CONCLUSIONS: There is a significant male bias in the prevalence of ASD in NF1. The phenotypic profile of NF1 + ASD cases includes greater social communication impairment in males. We discuss the implications of our findings and the rationale for using NF1 as a model for investigating sex bias in idiopathic ASD. En ligne : http://dx.doi.org/10.1186/s11689-016-9159-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349

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