Adaptive behavior in autism: Minimal clinically important differences on the Vineland‐II / Christopher H. CHATHAM in Autism Research, 11-2 (February 2018)  

Public ISBD [article]  inAutism Research > 11-2 (February 2018) . - p.270-283 Titre : Adaptive behavior in autism: Minimal clinically important differences on the Vineland‐II Type de document : texte imprimé Auteurs : Christopher H. CHATHAM, Auteur ; K.I. TAYLOR, Auteur ; Tony CHARMAN, Auteur ; X. Liogier D'ARDHUY, Auteur ; E. EULE, Auteur ; A. FEDELE, Auteur ; Antonio Y. HARDAN, Auteur ; Eva LOTH, Auteur ; Lorraine MURTAGH, Auteur ; Marta DEL VALLE RUBIDO, Auteur ; Antonia SAN JOSE CACERES, Auteur ; J. SEVIGNY, Auteur ; Linmarie SIKICH, Auteur ; L. SNYDER, Auteur ; J.E. TILLMANN, Auteur ; Pamela VENTOLA, Auteur ; Karen WALTON-BOWEN, Auteur ; P.P. WANG, Auteur ; Tom WILLGOSS, Auteur ; Federico BOLOGNANI, Auteur Année de publication : 2018 Article en page(s) : p.270-283 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorder (ASD) is associated with persistent impairments in adaptive abilities across multiple domains. These social, personal, and communicative impairments become increasingly pronounced with development, and are present regardless of IQ. The Vineland Adaptive Behavior Scales, Second Edition (Vineland‐II) is the most commonly used instrument for quantifying these impairments, but minimal clinically important differences (MCIDs) on Vineland‐II scores have not been rigorously established in ASD. We pooled data from several consortia/registries (EU‐AIMS LEAP study, ABIDE‐I, ABIDE‐II, INFOR, Simons Simplex Collection and Autism Treatment Network [ATN]) and clinical investigations and trials (Stanford, Yale, Roche) resulting in a data set of over 9,000 individuals with ASD. Two approaches were used to estimate MCIDs: distribution‐based methods and anchor‐based methods. Distribution‐based MCID [d‐MCID] estimates included the standard error of the measurement, as well as one‐fifth and one‐half of the covariate‐adjusted standard deviation (both cross‐sectionally and longitudinally). Anchor‐based MCID [a‐MCID] estimates include the slope of linear regression of clinician ratings of severity on the Vineland‐II score, the slope of linear regression of clinician ratings of longitudinal improvement category on Vineland‐II change, the Vineland‐II change score maximally differentiating clinical impressions of minimal versus no improvement, and equipercentile equating. Across strata, the Vineland‐II Adaptive Behavior Composite standardized score MCID estimates range from 2.01 to 3.2 for distribution‐based methods, and from 2.42 to 3.75 for sample‐size‐weighted anchor‐based methods. Lower Vineland‐II standardized score MCID estimates were observed for younger and more cognitively impaired populations. These MCID estimates enable users of Vineland‐II to assess both the statistical and clinical significance of any observed change. Autism Res 2018, 11: 270–283. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary The Vineland Adaptive Behavior Scales (2nd edition; Vineland‐II) is the most widely used scale for assessing day‐to‐day “adaptive” skills. Yet, it is unknown how much Vineland‐II scores must change for those changes to be regarded as clinically significant. We pooled data from over 9,000 individuals with ASD to show that changes of 2–3.75 points on the Vineland‐II Composite score represent the “minimal clinically‐important difference.” These estimates will help evaluate the benefits of potential new treatments for ASD. En ligne : https://doi.org/10.1002/aur.1874 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=334 [article] Adaptive behavior in autism: Minimal clinically important differences on the Vineland‐II [texte imprimé] / Christopher H. CHATHAM, Auteur ; K.I. TAYLOR, Auteur ; Tony CHARMAN, Auteur ; X. Liogier D'ARDHUY, Auteur ; E. EULE, Auteur ; A. FEDELE, Auteur ; Antonio Y. HARDAN, Auteur ; Eva LOTH, Auteur ; Lorraine MURTAGH, Auteur ; Marta DEL VALLE RUBIDO, Auteur ; Antonia SAN JOSE CACERES, Auteur ; J. SEVIGNY, Auteur ; Linmarie SIKICH, Auteur ; L. SNYDER, Auteur ; J.E. TILLMANN, Auteur ; Pamela VENTOLA, Auteur ; Karen WALTON-BOWEN, Auteur ; P.P. WANG, Auteur ; Tom WILLGOSS, Auteur ; Federico BOLOGNANI, Auteur . - 2018 . - p.270-283. Langues : Anglais (eng) in Autism Research > 11-2 (February 2018) . - p.270-283 Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorder (ASD) is associated with persistent impairments in adaptive abilities across multiple domains. These social, personal, and communicative impairments become increasingly pronounced with development, and are present regardless of IQ. The Vineland Adaptive Behavior Scales, Second Edition (Vineland‐II) is the most commonly used instrument for quantifying these impairments, but minimal clinically important differences (MCIDs) on Vineland‐II scores have not been rigorously established in ASD. We pooled data from several consortia/registries (EU‐AIMS LEAP study, ABIDE‐I, ABIDE‐II, INFOR, Simons Simplex Collection and Autism Treatment Network [ATN]) and clinical investigations and trials (Stanford, Yale, Roche) resulting in a data set of over 9,000 individuals with ASD. Two approaches were used to estimate MCIDs: distribution‐based methods and anchor‐based methods. Distribution‐based MCID [d‐MCID] estimates included the standard error of the measurement, as well as one‐fifth and one‐half of the covariate‐adjusted standard deviation (both cross‐sectionally and longitudinally). Anchor‐based MCID [a‐MCID] estimates include the slope of linear regression of clinician ratings of severity on the Vineland‐II score, the slope of linear regression of clinician ratings of longitudinal improvement category on Vineland‐II change, the Vineland‐II change score maximally differentiating clinical impressions of minimal versus no improvement, and equipercentile equating. Across strata, the Vineland‐II Adaptive Behavior Composite standardized score MCID estimates range from 2.01 to 3.2 for distribution‐based methods, and from 2.42 to 3.75 for sample‐size‐weighted anchor‐based methods. Lower Vineland‐II standardized score MCID estimates were observed for younger and more cognitively impaired populations. These MCID estimates enable users of Vineland‐II to assess both the statistical and clinical significance of any observed change. Autism Res 2018, 11: 270–283. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary The Vineland Adaptive Behavior Scales (2nd edition; Vineland‐II) is the most widely used scale for assessing day‐to‐day “adaptive” skills. Yet, it is unknown how much Vineland‐II scores must change for those changes to be regarded as clinically significant. We pooled data from over 9,000 individuals with ASD to show that changes of 2–3.75 points on the Vineland‐II Composite score represent the “minimal clinically‐important difference.” These estimates will help evaluate the benefits of potential new treatments for ASD. En ligne : https://doi.org/10.1002/aur.1874 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=334

Assessing Theory of Mind Nonverbally in Those With Intellectual Disability and ASD: The Penny Hiding Game / Antonia SAN JOSE CACERES in Autism Research, 7-5 (October 2014)  

Public ISBD [article]  inAutism Research > 7-5 (October 2014) . - p.608-616 Titre : Assessing Theory of Mind Nonverbally in Those With Intellectual Disability and ASD: The Penny Hiding Game Type de document : texte imprimé Auteurs : Antonia SAN JOSE CACERES, Auteur ; Noa KEREN, Auteur ; Rhonda BOOTH, Auteur ; Francesca HAPPE, Auteur Article en page(s) : p.608-616 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  intellectual disability  Penny Hiding Game  theory of mind  everyday functioning  adaptive functioning Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder (ASD) and low intellectual/language abilities are often omitted from experimental studies because of the challenges of testing these individuals. It is vital to develop appropriate and accessible tasks so that this significant part of the spectrum is not neglected. The theory of mind (ToM) has been extensively assessed in ASD, predominantly in relatively high-functioning individuals with reasonable language skills. This study aims to assess the ToM abilities of a sample of 132 participants with intellectual disability (ID) with and without ASD, matched in verbal mental age (VMA) and chronological age, using a naturalistic and nonverbal deception task: the Penny Hiding Game (PHG). The relationship between performance on the PHG and everyday adaptation was also studied. The PHG proved accessible to most participants, suggesting its suitability for use with individuals with low cognitive skills, attentional problems, and limited language. The ASD + ID group showed significantly more PHG errors, and fewer tricks, than the ID group. PHG performance correlated with Vineland adaptation scores for both groups. VMA was a major predictor of passing the task in both groups, and participants with ASD + ID required, on average, 2 years higher VMA than those with ID only, to achieve the same level of PHG success. VMA moderated the association between PHG performance and real-life social skills for the ASD + ID more than the ID group, suggesting that severely impaired individuals with ASD may rely on verbal ability to overcome their social difficulties, whereas individuals with ID alone may use more intuitive social understanding both in the PHG and everyday situations. Autism Res 2014, 7: 608–616. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1405 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=241 [article] Assessing Theory of Mind Nonverbally in Those With Intellectual Disability and ASD: The Penny Hiding Game [texte imprimé] / Antonia SAN JOSE CACERES, Auteur ; Noa KEREN, Auteur ; Rhonda BOOTH, Auteur ; Francesca HAPPE, Auteur . - p.608-616. Langues : Anglais (eng) in Autism Research > 7-5 (October 2014) . - p.608-616 Mots-clés : autism spectrum disorder  intellectual disability  Penny Hiding Game  theory of mind  everyday functioning  adaptive functioning Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder (ASD) and low intellectual/language abilities are often omitted from experimental studies because of the challenges of testing these individuals. It is vital to develop appropriate and accessible tasks so that this significant part of the spectrum is not neglected. The theory of mind (ToM) has been extensively assessed in ASD, predominantly in relatively high-functioning individuals with reasonable language skills. This study aims to assess the ToM abilities of a sample of 132 participants with intellectual disability (ID) with and without ASD, matched in verbal mental age (VMA) and chronological age, using a naturalistic and nonverbal deception task: the Penny Hiding Game (PHG). The relationship between performance on the PHG and everyday adaptation was also studied. The PHG proved accessible to most participants, suggesting its suitability for use with individuals with low cognitive skills, attentional problems, and limited language. The ASD + ID group showed significantly more PHG errors, and fewer tricks, than the ID group. PHG performance correlated with Vineland adaptation scores for both groups. VMA was a major predictor of passing the task in both groups, and participants with ASD + ID required, on average, 2 years higher VMA than those with ID only, to achieve the same level of PHG success. VMA moderated the association between PHG performance and real-life social skills for the ASD + ID more than the ID group, suggesting that severely impaired individuals with ASD may rely on verbal ability to overcome their social difficulties, whereas individuals with ID alone may use more intuitive social understanding both in the PHG and everyday situations. Autism Res 2014, 7: 608–616. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1405 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=241

Feasibility study of the National Autistic Society EarlyBird parent support programme / Melanie PALMER in Autism, 24-1 (January 2020)  

Public ISBD [article]  inAutism > 24-1 (January 2020) . - p.147-159 Titre : Feasibility study of the National Autistic Society EarlyBird parent support programme Type de document : texte imprimé Auteurs : Melanie PALMER, Auteur ; Antonia SAN JOSE CACERES, Auteur ; Joanne TARVER, Auteur ; Patricia HOWLIN, Auteur ; Vicky SLONIMS, Auteur ; Elizabeth PELLICANO, Auteur ; Tony CHARMAN, Auteur Article en page(s) : p.147-159 Langues : Anglais (eng) Mots-clés : EarlyBird  autism  feasibility  intervention  psychoeducation Index. décimale : PER Périodiques Résumé : The EarlyBird programme is a group-based psychoeducation intervention for parents of young children with autism. Although it is widely used in the United Kingdom, the evidence base for the programme is very limited. Using a mixed method, non-randomised research design, we aimed to test (1) the acceptability of the research procedures (recruitment, retention, suitability of measures), (2) the parental acceptability of EarlyBird (attendance, views of the programme, perceived changes) and (3) the facilitator acceptability of EarlyBird (fidelity, views of the programme, perceived changes). Seventeen families with a 2- to 5-year-old autistic child and 10 EarlyBird facilitators took part. Pre- and post-intervention assessment included measures of the child's autism characteristics, cognitive ability, adaptive behaviour, emotional and behavioural problems and parent-reported autism knowledge, parenting competence, stress and wellbeing. Semi-structured interviews were completed at post-intervention with parents and facilitators. For those involved in the study, the research procedures were generally acceptable, retention rates were high and the research protocol was administered as planned. Generally, positive views of the intervention were expressed by parents and facilitators. Although the uncontrolled, within-participant design does not allow us to test for efficacy, change in several outcome measures from pre- to post-intervention was in the expected direction. Difficulties were encountered with recruitment (opt-in to the groups was ~56% and opt-in to the research was 63%), and strategies to enhance recruitment need to be built into any future trial. These findings should be used to inform protocols for pragmatic, controlled trials of EarlyBird and other group-based interventions for parents with young autistic children. En ligne : http://dx.doi.org/10.1177/1362361319851422 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Feasibility study of the National Autistic Society EarlyBird parent support programme [texte imprimé] / Melanie PALMER, Auteur ; Antonia SAN JOSE CACERES, Auteur ; Joanne TARVER, Auteur ; Patricia HOWLIN, Auteur ; Vicky SLONIMS, Auteur ; Elizabeth PELLICANO, Auteur ; Tony CHARMAN, Auteur . - p.147-159. Langues : Anglais (eng) in Autism > 24-1 (January 2020) . - p.147-159 Mots-clés : EarlyBird  autism  feasibility  intervention  psychoeducation Index. décimale : PER Périodiques Résumé : The EarlyBird programme is a group-based psychoeducation intervention for parents of young children with autism. Although it is widely used in the United Kingdom, the evidence base for the programme is very limited. Using a mixed method, non-randomised research design, we aimed to test (1) the acceptability of the research procedures (recruitment, retention, suitability of measures), (2) the parental acceptability of EarlyBird (attendance, views of the programme, perceived changes) and (3) the facilitator acceptability of EarlyBird (fidelity, views of the programme, perceived changes). Seventeen families with a 2- to 5-year-old autistic child and 10 EarlyBird facilitators took part. Pre- and post-intervention assessment included measures of the child's autism characteristics, cognitive ability, adaptive behaviour, emotional and behavioural problems and parent-reported autism knowledge, parenting competence, stress and wellbeing. Semi-structured interviews were completed at post-intervention with parents and facilitators. For those involved in the study, the research procedures were generally acceptable, retention rates were high and the research protocol was administered as planned. Generally, positive views of the intervention were expressed by parents and facilitators. Although the uncontrolled, within-participant design does not allow us to test for efficacy, change in several outcome measures from pre- to post-intervention was in the expected direction. Difficulties were encountered with recruitment (opt-in to the groups was ~56% and opt-in to the research was 63%), and strategies to enhance recruitment need to be built into any future trial. These findings should be used to inform protocols for pragmatic, controlled trials of EarlyBird and other group-based interventions for parents with young autistic children. En ligne : http://dx.doi.org/10.1177/1362361319851422 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

How do core autism traits and associated symptoms relate to quality of life? Findings from the Longitudinal European Autism Project / Bethany OAKLEY in Autism, 25-2 (February 2021)  

Public ISBD [article]  inAutism > 25-2 (February 2021) . - p.389-404 Titre : How do core autism traits and associated symptoms relate to quality of life? Findings from the Longitudinal European Autism Project Type de document : texte imprimé Auteurs : Bethany OAKLEY, Auteur ; Julian TILLMANN, Auteur ; Jumana AHMAD, Auteur ; Daisy CRAWLEY, Auteur ; Antonia SAN JOSE CACERES, Auteur ; Rosemary J. HOLT, Auteur ; Tony CHARMAN, Auteur ; Tobias BANASCHEWSKI, Auteur ; Jan K. BUITELAAR, Auteur ; Emily SIMONOFF, Auteur ; Declan G.M. MURPHY, Auteur ; Eva LOTH, Auteur Article en page(s) : p.389-404 Langues : Anglais (eng) Mots-clés : anxiety  autism  depression  quality of life  well-being Index. décimale : PER Périodiques Résumé : Previous studies suggest that some autistic individuals report lower satisfaction, or well-being, with different aspects of everyday life than those without autism. It is unclear whether this might be partly explained by symptoms of anxiety and/or depression, which affect at least 20%-50% of autistic people. In this study, we measured individual differences in well-being in 573 six to thirty-year-olds with and without a diagnosis of autism. We investigated whether individual differences in well-being were explained by autism traits (e.g. social-communication difficulties) and/or anxiety and depression symptoms. We showed that, though well-being was lower for some autistic individuals, compared to those without autism, many autistic individuals reported good well-being. Where well-being was reduced, this was particularly explained by depression symptoms, across all ages. For children/adolescents, anxiety and social-communication difficulties were also related to some aspects of well-being. Our study suggests that support and services for improving mental health, especially depression symptoms, may also improve broader outcomes for autistic people. En ligne : http://dx.doi.org/10.1177/1362361320959959 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442 [article] How do core autism traits and associated symptoms relate to quality of life? Findings from the Longitudinal European Autism Project [texte imprimé] / Bethany OAKLEY, Auteur ; Julian TILLMANN, Auteur ; Jumana AHMAD, Auteur ; Daisy CRAWLEY, Auteur ; Antonia SAN JOSE CACERES, Auteur ; Rosemary J. HOLT, Auteur ; Tony CHARMAN, Auteur ; Tobias BANASCHEWSKI, Auteur ; Jan K. BUITELAAR, Auteur ; Emily SIMONOFF, Auteur ; Declan G.M. MURPHY, Auteur ; Eva LOTH, Auteur . - p.389-404. Langues : Anglais (eng) in Autism > 25-2 (February 2021) . - p.389-404 Mots-clés : anxiety  autism  depression  quality of life  well-being Index. décimale : PER Périodiques Résumé : Previous studies suggest that some autistic individuals report lower satisfaction, or well-being, with different aspects of everyday life than those without autism. It is unclear whether this might be partly explained by symptoms of anxiety and/or depression, which affect at least 20%-50% of autistic people. In this study, we measured individual differences in well-being in 573 six to thirty-year-olds with and without a diagnosis of autism. We investigated whether individual differences in well-being were explained by autism traits (e.g. social-communication difficulties) and/or anxiety and depression symptoms. We showed that, though well-being was lower for some autistic individuals, compared to those without autism, many autistic individuals reported good well-being. Where well-being was reduced, this was particularly explained by depression symptoms, across all ages. For children/adolescents, anxiety and social-communication difficulties were also related to some aspects of well-being. Our study suggests that support and services for improving mental health, especially depression symptoms, may also improve broader outcomes for autistic people. En ligne : http://dx.doi.org/10.1177/1362361320959959 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=442

Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism / Antonia SAN JOSE CACERES in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism Type de document : texte imprimé Auteurs : Antonia SAN JOSE CACERES, Auteur ; Emma WILKINSON, Auteur ; Jennifer COOKE, Auteur ; Victoria BASKETT, Auteur ; Charlotte BLACKMORE, Auteur ; Daisy Victoria CRAWLEY, Auteur ; Allison DURKIN, Auteur ; Danielle HALPERN, Auteur ; Maria NUNEZ, Auteur ; Page SIPER, Auteur ; Declan G. MURPHY, Auteur ; Jennifer FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Eva LOTH, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  Child  Chromosome Deletion  Chromosome Disorders/physiopathology/complications  Autistic Disorder/physiopathology/complications  Chromosomes, Human, Pair 22  Child, Preschool  Adolescent  Social Interaction  Social Behavior  United Kingdom  Auditory social orienting  Idiopathic autism  Pms  Phelan-McDermid syndrome  was approved by the National Research Ethics Service (NRES) Committee London –  Queen Square, under reference 15/LO/0305. All volunteers and their families gave  appropriate consent/assent to participate in the study. In the US, the project  was approved by the Institutional Review Board at the Mount Sinai Hospital. All  participants and their families gave appropriate consent to participate in the  study. Consent for publication NA. Competing interests AK receives research  support from AMO Pharma and consults to Ovid Therapeutics, Acadia, and Alkermes.  ASJC has been a consultant for F. Hoffmann-La Roche Ltd, consults for Servier and  Signant Health, and she has been involved in clinical trials conducted by  Servier. The present work is unrelated to the above grants and relationships. All  other authors have no competing interests to declare (EL, JC, JFF, PS, EW, DH,  AD, DVC, VB, CB, DGM, MN). Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is currently unknown whether people with PMS have similar neurocognitive atypicalities to those previously identified in idiopathic autism. Disruption in social orienting has previously been suggested as an early hallmark feature of idiopathic autism that impacts social learning and social interaction. METHODS: This study used a semi-naturalistic task to explore orienting to social versus non-social stimuli and its relation to clinical features in individuals diagnosed with PMS, autism, and neurotypical children recruited in the United States and the United Kingdom. RESULTS: At the group level, autistic and neurotypical children responded on average more often to social than non-social stimuli, while children with PMS responded similarly to both stimulus types. Both clinical groups responded significantly less often to social stimuli than neurotypical children. In addition, we found considerable variability in orienting responses within each group that were of clinical relevance. In the autism group, non-social orienting was associated with mental age, while in the PMS group social and non-social orienting were related to strength of autistic features. CONCLUSIONS: These findings do not support specific social motivation difficulties in either clinical group. Instead, they highlight the importance of exploring individual differences in orienting responses in Phelan-McDermid Syndrome in relation to autistic features. TRIAL REGISTRATION: NA. En ligne : https://dx.doi.org/10.1186/s11689-024-09564-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism [texte imprimé] / Antonia SAN JOSE CACERES, Auteur ; Emma WILKINSON, Auteur ; Jennifer COOKE, Auteur ; Victoria BASKETT, Auteur ; Charlotte BLACKMORE, Auteur ; Daisy Victoria CRAWLEY, Auteur ; Allison DURKIN, Auteur ; Danielle HALPERN, Auteur ; Maria NUNEZ, Auteur ; Page SIPER, Auteur ; Declan G. MURPHY, Auteur ; Jennifer FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Eva LOTH, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Male  Female  Child  Chromosome Deletion  Chromosome Disorders/physiopathology/complications  Autistic Disorder/physiopathology/complications  Chromosomes, Human, Pair 22  Child, Preschool  Adolescent  Social Interaction  Social Behavior  United Kingdom  Auditory social orienting  Idiopathic autism  Pms  Phelan-McDermid syndrome  was approved by the National Research Ethics Service (NRES) Committee London –  Queen Square, under reference 15/LO/0305. All volunteers and their families gave  appropriate consent/assent to participate in the study. In the US, the project  was approved by the Institutional Review Board at the Mount Sinai Hospital. All  participants and their families gave appropriate consent to participate in the  study. Consent for publication NA. Competing interests AK receives research  support from AMO Pharma and consults to Ovid Therapeutics, Acadia, and Alkermes.  ASJC has been a consultant for F. Hoffmann-La Roche Ltd, consults for Servier and  Signant Health, and she has been involved in clinical trials conducted by  Servier. The present work is unrelated to the above grants and relationships. All  other authors have no competing interests to declare (EL, JC, JFF, PS, EW, DH,  AD, DVC, VB, CB, DGM, MN). Index. décimale : PER Périodiques Résumé : BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is currently unknown whether people with PMS have similar neurocognitive atypicalities to those previously identified in idiopathic autism. Disruption in social orienting has previously been suggested as an early hallmark feature of idiopathic autism that impacts social learning and social interaction. METHODS: This study used a semi-naturalistic task to explore orienting to social versus non-social stimuli and its relation to clinical features in individuals diagnosed with PMS, autism, and neurotypical children recruited in the United States and the United Kingdom. RESULTS: At the group level, autistic and neurotypical children responded on average more often to social than non-social stimuli, while children with PMS responded similarly to both stimulus types. Both clinical groups responded significantly less often to social stimuli than neurotypical children. In addition, we found considerable variability in orienting responses within each group that were of clinical relevance. In the autism group, non-social orienting was associated with mental age, while in the PMS group social and non-social orienting were related to strength of autistic features. CONCLUSIONS: These findings do not support specific social motivation difficulties in either clinical group. Instead, they highlight the importance of exploring individual differences in orienting responses in Phelan-McDermid Syndrome in relation to autistic features. TRIAL REGISTRATION: NA. En ligne : https://dx.doi.org/10.1186/s11689-024-09564-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Investigating the factors underlying adaptive functioning in autism in the EU-AIMS Longitudinal European Autism Project / Julian TILLMANN in Autism Research, 12-4 (April 2019)  

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Mapping the link between socio-economic factors, autistic traits and mental health across different settings / Teresa DEL BIANCO in Autism, 28-5 (May 2024)  

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Pharmacological and dietary-supplement treatments for autism spectrum disorder: a systematic review and network meta-analysis / Spyridon SIAFIS in Molecular Autism, 13 (2022)  

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Social brain activation during mentalizing in a large autism cohort: the Longitudinal European Autism Project / Carolin MOESSNANG in Molecular Autism, 11 (2020)  

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The EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation / Tony CHARMAN in Molecular Autism, 8 (2017)  

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The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders / Eva LOTH in Molecular Autism, 8 (2017)  

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