Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations / Silvia DE RUBEIS in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 31p. Titre : Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations Type de document : texte imprimé Auteurs : Silvia DE RUBEIS, Auteur ; Paige M. SIPER, Auteur ; Allison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; François MURATET, Auteur ; Danielle B. HALPERN, Auteur ; Maria Del Pilar TRELLES, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; A. Ting WANG, Auteur ; J. Lloyd HOLDER, Auteur ; Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur Article en page(s) : 31p. Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Child  Child, Preschool  Chromosome Deletion  Chromosome Disorders/genetics/pathology  Chromosomes, Human, Pair 22/genetics  Female  Haploinsufficiency  Humans  Male  Nerve Tissue Proteins/genetics  Phenotype  Point Mutation  22q13 deletion syndrome  Autism spectrum disorder  Intellectual disability  Phelan-McDermid syndrome  shank3  Sequence variants Index. décimale : PER Périodiques Résumé : Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking. Methods: We provide detailed clinical and genetic data on 17 individuals carrying mutations in SHANK3. We also review 60 previously reported patients with pathogenic or likely pathogenic SHANK3 variants, often lacking detailed phenotypic information. Results: SHANK3 mutations in our cohort and in previously reported cases were distributed throughout the protein; the majority were truncating and all were compatible with de novo inheritance. Despite substantial allelic heterogeneity, four variants were recurrent (p.Leu1142Valfs*153, p.Ala1227Glyfs*69, p.Arg1255Leufs*25, and c.2265+1G>A), suggesting that these are hotspots for de novo mutations. All individuals studied had intellectual disability, and autism spectrum disorder was prevalent (73%). Severe speech deficits were common, but in contrast to individuals with 22q13.3 deletions, the majority developed single words, including 41% with at least phrase speech. Other common findings were consistent with reports among individuals with 22q13.3 deletions, including hypotonia, motor skill deficits, regression, seizures, brain abnormalities, mild dysmorphic features, and feeding and gastrointestinal problems. Conclusions: Haploinsufficiency of SHANK3 resulting from point mutations is sufficient to cause a broad range of features associated with PMS. Our findings expand the molecular and phenotypic spectrum of PMS caused by SHANK3 point mutations and suggest that, in general, speech impairment and motor deficits are more severe in the case of deletions. In contrast, renal abnormalities associated with 22q13.3 deletions do not appear to be related to the loss of SHANK3. En ligne : https://dx.doi.org/10.1186/s13229-018-0205-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 [article] Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations [texte imprimé] / Silvia DE RUBEIS, Auteur ; Paige M. SIPER, Auteur ; Allison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; François MURATET, Auteur ; Danielle B. HALPERN, Auteur ; Maria Del Pilar TRELLES, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; A. Ting WANG, Auteur ; J. Lloyd HOLDER, Auteur ; Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur . - 31p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 31p. Mots-clés : Adolescent  Adult  Child  Child, Preschool  Chromosome Deletion  Chromosome Disorders/genetics/pathology  Chromosomes, Human, Pair 22/genetics  Female  Haploinsufficiency  Humans  Male  Nerve Tissue Proteins/genetics  Phenotype  Point Mutation  22q13 deletion syndrome  Autism spectrum disorder  Intellectual disability  Phelan-McDermid syndrome  shank3  Sequence variants Index. décimale : PER Périodiques Résumé : Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking. Methods: We provide detailed clinical and genetic data on 17 individuals carrying mutations in SHANK3. We also review 60 previously reported patients with pathogenic or likely pathogenic SHANK3 variants, often lacking detailed phenotypic information. Results: SHANK3 mutations in our cohort and in previously reported cases were distributed throughout the protein; the majority were truncating and all were compatible with de novo inheritance. Despite substantial allelic heterogeneity, four variants were recurrent (p.Leu1142Valfs*153, p.Ala1227Glyfs*69, p.Arg1255Leufs*25, and c.2265+1G>A), suggesting that these are hotspots for de novo mutations. All individuals studied had intellectual disability, and autism spectrum disorder was prevalent (73%). Severe speech deficits were common, but in contrast to individuals with 22q13.3 deletions, the majority developed single words, including 41% with at least phrase speech. Other common findings were consistent with reports among individuals with 22q13.3 deletions, including hypotonia, motor skill deficits, regression, seizures, brain abnormalities, mild dysmorphic features, and feeding and gastrointestinal problems. Conclusions: Haploinsufficiency of SHANK3 resulting from point mutations is sufficient to cause a broad range of features associated with PMS. Our findings expand the molecular and phenotypic spectrum of PMS caused by SHANK3 point mutations and suggest that, in general, speech impairment and motor deficits are more severe in the case of deletions. In contrast, renal abnormalities associated with 22q13.3 deletions do not appear to be related to the loss of SHANK3. En ligne : https://dx.doi.org/10.1186/s13229-018-0205-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371

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

Prospective investigation of FOXP1 syndrome / Paige M. SIPER in Molecular Autism, 8 (2017)  

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 57p. Titre : Prospective investigation of FOXP1 syndrome Type de document : texte imprimé Auteurs : Paige M. SIPER, Auteur ; Silvia DE RUBEIS, Auteur ; Maria Del Pilar TRELLES, Auteur ; Allison DURKIN, Auteur ; Daniele DI MARINO, Auteur ; François MURATET, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; Evan E. EICHLER, Auteur ; M. KELLY, Auteur ; Jennifer BEIGHLEY, Auteur ; Jennifer GERDTS, Auteur ; Arianne S. WALLACE, Auteur ; Heather C. MEFFORD, Auteur ; Raphael A. BERNIER, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur Article en page(s) : 57p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described the presence of autism spectrum disorder (ASD) traits, intellectual disability, language impairment, and psychiatric features. The goal of the present study was to comprehensively characterize the genetic and clinical spectrum of FOXP1 syndrome. This is the first study to prospectively examine the genotype-phenotype relationship in multiple individuals with FOXP1 syndrome, using a battery of standardized clinical assessments. METHODS: Genetic and clinical data was obtained and analyzed from nine children and adolescents between the ages of 5-17 with mutations in FOXP1. Phenotypic characterization included gold standard ASD testing and norm-referenced measures of cognition, adaptive behavior, language, motor, and visual-motor integration skills. In addition, psychiatric, medical, neurological, and dysmorphology examinations were completed by a multidisciplinary team of clinicians. A comprehensive review of reported cases was also performed. All missense and in-frame mutations were mapped onto the three-dimensional structure of DNA-bound FOXP1. RESULTS: We have identified nine de novo mutations, including three frameshift, one nonsense, one mutation in an essential splice site resulting in frameshift and insertion of a premature stop codon, three missense, and one in-frame deletion. Reviewing prior literature, we found seven instances of recurrent mutations and another 34 private mutations. The majority of pathogenic missense and in-frame mutations, including all four missense mutations in our cohort, lie in the DNA-binding domain. Through structural analyses, we show that the mutations perturb amino acids necessary for binding to the DNA or interfere with the domain swapping that mediates FOXP1 dimerization. Individuals with FOXP1 syndrome presented with delays in early motor and language milestones, language impairment (expressive language > receptive language), ASD symptoms, visual-motor integration deficits, and complex psychiatric presentations characterized by anxiety, obsessive-compulsive traits, attention deficits, and externalizing symptoms. Medical features included non-specific structural brain abnormalities and dysmorphic features, endocrine and gastrointestinal problems, sleep disturbances, and sinopulmonary infections. CONCLUSIONS: This study identifies novel FOXP1 mutations associated with FOXP1 syndrome, identifies recurrent mutations, and demonstrates significant clustering of missense mutations in the DNA-binding domain. Clinical findings confirm the role FOXP1 plays in development across multiple domains of functioning. The genetic findings can be incorporated into clinical genetics practice to improve accurate genetic diagnosis of FOXP1 syndrome and the clinical findings can inform monitoring and treatment of individuals with FOXP1 syndrome. En ligne : http://dx.doi.org/10.1186/s13229-017-0172-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331 [article] Prospective investigation of FOXP1 syndrome [texte imprimé] / Paige M. SIPER, Auteur ; Silvia DE RUBEIS, Auteur ; Maria Del Pilar TRELLES, Auteur ; Allison DURKIN, Auteur ; Daniele DI MARINO, Auteur ; François MURATET, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; Evan E. EICHLER, Auteur ; M. KELLY, Auteur ; Jennifer BEIGHLEY, Auteur ; Jennifer GERDTS, Auteur ; Arianne S. WALLACE, Auteur ; Heather C. MEFFORD, Auteur ; Raphael A. BERNIER, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur . - 57p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 57p. Index. décimale : PER Périodiques Résumé : BACKGROUND: Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described the presence of autism spectrum disorder (ASD) traits, intellectual disability, language impairment, and psychiatric features. The goal of the present study was to comprehensively characterize the genetic and clinical spectrum of FOXP1 syndrome. This is the first study to prospectively examine the genotype-phenotype relationship in multiple individuals with FOXP1 syndrome, using a battery of standardized clinical assessments. METHODS: Genetic and clinical data was obtained and analyzed from nine children and adolescents between the ages of 5-17 with mutations in FOXP1. Phenotypic characterization included gold standard ASD testing and norm-referenced measures of cognition, adaptive behavior, language, motor, and visual-motor integration skills. In addition, psychiatric, medical, neurological, and dysmorphology examinations were completed by a multidisciplinary team of clinicians. A comprehensive review of reported cases was also performed. All missense and in-frame mutations were mapped onto the three-dimensional structure of DNA-bound FOXP1. RESULTS: We have identified nine de novo mutations, including three frameshift, one nonsense, one mutation in an essential splice site resulting in frameshift and insertion of a premature stop codon, three missense, and one in-frame deletion. Reviewing prior literature, we found seven instances of recurrent mutations and another 34 private mutations. The majority of pathogenic missense and in-frame mutations, including all four missense mutations in our cohort, lie in the DNA-binding domain. Through structural analyses, we show that the mutations perturb amino acids necessary for binding to the DNA or interfere with the domain swapping that mediates FOXP1 dimerization. Individuals with FOXP1 syndrome presented with delays in early motor and language milestones, language impairment (expressive language > receptive language), ASD symptoms, visual-motor integration deficits, and complex psychiatric presentations characterized by anxiety, obsessive-compulsive traits, attention deficits, and externalizing symptoms. Medical features included non-specific structural brain abnormalities and dysmorphic features, endocrine and gastrointestinal problems, sleep disturbances, and sinopulmonary infections. CONCLUSIONS: This study identifies novel FOXP1 mutations associated with FOXP1 syndrome, identifies recurrent mutations, and demonstrates significant clustering of missense mutations in the DNA-binding domain. Clinical findings confirm the role FOXP1 plays in development across multiple domains of functioning. The genetic findings can be incorporated into clinical genetics practice to improve accurate genetic diagnosis of FOXP1 syndrome and the clinical findings can inform monitoring and treatment of individuals with FOXP1 syndrome. En ligne : http://dx.doi.org/10.1186/s13229-017-0172-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331

Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome / Kellie GERGOUDIS in Autism Research, 13-8 (August 2020)  

Public ISBD [article]  inAutism Research > 13-8 (August 2020) . - p.1383-1396 Titre : Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome Type de document : texte imprimé Auteurs : Kellie GERGOUDIS, Auteur ; Alan WEINBERG, Auteur ; Jonathan TEMPLIN, Auteur ; Cristan FARMER, Auteur ; Allison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; Paige SIPER, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Maria Del Pilar TRELLES, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Joseph D. BUXBAUM, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Mustafa SAHIN, Auteur ; Latha SOORYA, Auteur ; Audrey THURM, Auteur ; Alexander KOLEVZON, Auteur Article en page(s) : p.1383-1396 Langues : Anglais (eng) Mots-clés : Item Response Theory  Phelan-McDermid syndrome  autism spectrum disorder  behavioral measures  intellectual disability Index. décimale : PER Périodiques Résumé : The Social Responsiveness Scale-2 (SRS-2) is a quantitative measure used to characterize symptoms of autism spectrum disorder (ASD). However, research suggests that SRS-2 scores are significantly influenced by language ability and intellectual disability (ID). Efforts to refine the SRS-2 by Sturm, Kuhfeld, Kasari, and Mccracken [Journal of Child Psychology and Psychiatry, 58(9), 1053-1061] yielded a shortened form, yet its psychometric properties in populations with severe ID remain unknown. This study aims to examine the psychometric properties of the SRS-2 in Phelan-McDermid syndrome (PMS), a genetic condition associated with ASD and ID, thereby guiding score interpretation in this population and future development of targeted scales. Analyses, including Item Response Theory (IRT), were conducted on a sample of individuals with PMS (n = 91) recruited at six sites nationally. Psychometric properties evaluated include measures of reliability (internal consistency, test-retest reliability) and validity (structural, construct, content). While both SRS-2 forms are reliable, the shortened SRS-2 shows superior validity to the full SRS-2 for measuring ASD symptoms in PMS. On IRT analysis, the shortened SRS-2 shows excellent discrimination and precisely evaluates respondents across a wide range of ASD symptomatology but interpretation is limited by uncertain content validity and small sample size. The shortened SRS-2 shows some promise for use in PMS, but future refinements and additions are needed to develop items that are tailored to identify ASD in children with severe ID and specifically PMS. LAY SUMMARY: This study determined that a shortened form of the Social Responsiveness Scale, Second Edition (SRS-2) shows both promise and limitations for the characterization of autism symptomatology in individuals with Phelan-McDermid syndrome (PMS), a population characterized by intellectual disability (ID). Caution should be used when interpreting SRS-2 scores in individuals with ID and future research should modify existing items and develop new items to improve the SRS-2's ability to accurately characterize autism symptomatology in PMS. Autism Res 2020, 13: 1383-1396. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2299 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 [article] Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome [texte imprimé] / Kellie GERGOUDIS, Auteur ; Alan WEINBERG, Auteur ; Jonathan TEMPLIN, Auteur ; Cristan FARMER, Auteur ; Allison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; Paige SIPER, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Maria Del Pilar TRELLES, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Joseph D. BUXBAUM, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Mustafa SAHIN, Auteur ; Latha SOORYA, Auteur ; Audrey THURM, Auteur ; Alexander KOLEVZON, Auteur . - p.1383-1396. Langues : Anglais (eng) in Autism Research > 13-8 (August 2020) . - p.1383-1396 Mots-clés : Item Response Theory  Phelan-McDermid syndrome  autism spectrum disorder  behavioral measures  intellectual disability Index. décimale : PER Périodiques Résumé : The Social Responsiveness Scale-2 (SRS-2) is a quantitative measure used to characterize symptoms of autism spectrum disorder (ASD). However, research suggests that SRS-2 scores are significantly influenced by language ability and intellectual disability (ID). Efforts to refine the SRS-2 by Sturm, Kuhfeld, Kasari, and Mccracken [Journal of Child Psychology and Psychiatry, 58(9), 1053-1061] yielded a shortened form, yet its psychometric properties in populations with severe ID remain unknown. This study aims to examine the psychometric properties of the SRS-2 in Phelan-McDermid syndrome (PMS), a genetic condition associated with ASD and ID, thereby guiding score interpretation in this population and future development of targeted scales. Analyses, including Item Response Theory (IRT), were conducted on a sample of individuals with PMS (n = 91) recruited at six sites nationally. Psychometric properties evaluated include measures of reliability (internal consistency, test-retest reliability) and validity (structural, construct, content). While both SRS-2 forms are reliable, the shortened SRS-2 shows superior validity to the full SRS-2 for measuring ASD symptoms in PMS. On IRT analysis, the shortened SRS-2 shows excellent discrimination and precisely evaluates respondents across a wide range of ASD symptomatology but interpretation is limited by uncertain content validity and small sample size. The shortened SRS-2 shows some promise for use in PMS, but future refinements and additions are needed to develop items that are tailored to identify ASD in children with severe ID and specifically PMS. LAY SUMMARY: This study determined that a shortened form of the Social Responsiveness Scale, Second Edition (SRS-2) shows both promise and limitations for the characterization of autism symptomatology in individuals with Phelan-McDermid syndrome (PMS), a population characterized by intellectual disability (ID). Caution should be used when interpreting SRS-2 scores in individuals with ID and future research should modify existing items and develop new items to improve the SRS-2's ability to accurately characterize autism symptomatology in PMS. Autism Res 2020, 13: 1383-1396. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2299 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430

The Immersive Theater Experience for Individuals with Autism Spectrum Disorder / Ivy GISERMAN-KISS in Journal of Autism and Developmental Disorders, 50-3 (March 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-3 (March 2020) . - p.1073-1080 Titre : The Immersive Theater Experience for Individuals with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Ivy GISERMAN-KISS, Auteur ; Michelle GORENSTEIN, Auteur ; Elyana FELDMAN, Auteur ; Mikaela A. ROWE, Auteur ; Hannah E. GROSMAN, Auteur ; Jordana WEISSMAN, Auteur ; Audrey ROUHANDEH, Auteur ; Emma WILKINSON, Auteur ; Kristin MEYERING, Auteur ; Allison DURKIN, Auteur ; Emily L. ISENSTEIN, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur ; Paige M. SIPER, Auteur Article en page(s) : p.1073-1080 Langues : Anglais (eng) Mots-clés : Asd  Accessibility  Autism spectrum disorder  Immersive theater  Theater  Theatre Index. décimale : PER Périodiques Résumé : Despite growing public awareness of ASD, many caregivers of children with ASD struggle to find opportunities for participation in community activities with appropriate accommodations. The current study evaluated the experiences of individuals with ASD who attended immersive theater performances specifically designed for individuals with ASD. Parents and teachers of 256 children and adolescents completed questionnaires regarding their pre-show expectations and post-show satisfaction with the performance. Analyses revealed that, on average, parents' and teachers' levels of satisfaction significantly outweighed their pre-show expectations. Based on researcher observations, audience feedback, and past research, a list of best practices for successful theater programming for individuals with ASD was compiled with the goal of widespread dissemination to increase accessibility of theater performances for neurodiverse audiences. En ligne : http://dx.doi.org/10.1007/s10803-019-04284-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420 [article] The Immersive Theater Experience for Individuals with Autism Spectrum Disorder [texte imprimé] / Ivy GISERMAN-KISS, Auteur ; Michelle GORENSTEIN, Auteur ; Elyana FELDMAN, Auteur ; Mikaela A. ROWE, Auteur ; Hannah E. GROSMAN, Auteur ; Jordana WEISSMAN, Auteur ; Audrey ROUHANDEH, Auteur ; Emma WILKINSON, Auteur ; Kristin MEYERING, Auteur ; Allison DURKIN, Auteur ; Emily L. ISENSTEIN, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur ; Paige M. SIPER, Auteur . - p.1073-1080. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-3 (March 2020) . - p.1073-1080 Mots-clés : Asd  Accessibility  Autism spectrum disorder  Immersive theater  Theater  Theatre Index. décimale : PER Périodiques Résumé : Despite growing public awareness of ASD, many caregivers of children with ASD struggle to find opportunities for participation in community activities with appropriate accommodations. The current study evaluated the experiences of individuals with ASD who attended immersive theater performances specifically designed for individuals with ASD. Parents and teachers of 256 children and adolescents completed questionnaires regarding their pre-show expectations and post-show satisfaction with the performance. Analyses revealed that, on average, parents' and teachers' levels of satisfaction significantly outweighed their pre-show expectations. Based on researcher observations, audience feedback, and past research, a list of best practices for successful theater programming for individuals with ASD was compiled with the goal of widespread dissemination to increase accessibility of theater performances for neurodiverse audiences. En ligne : http://dx.doi.org/10.1007/s10803-019-04284-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420

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