Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder / Jacquelin RANKINE in Journal of Autism and Developmental Disorders, 47-6 (June 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-6 (June 2017) . - p.1605-1617 Titre : Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Jacquelin RANKINE, Auteur ; Erin LI, Auteur ; Stacey LURIE, Auteur ; Hillary RIEGER, Auteur ; Emily FOURIE, Auteur ; Paige M. SIPER, Auteur ; A. Ting WANG, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur Article en page(s) : p.1605-1617 Langues : Anglais (eng) Mots-clés : Phelan-McDermid syndrome  22q13 deletion syndrome  Autism spectrum disorder  Automated vocal analysis  Language ENvironment  Analysis  Minimally verbal Index. décimale : PER Périodiques Résumé : Phelan-McDermid syndrome (PMS) is a single-locus cause of developmental delay, autism spectrum disorder, and minimal verbal abilities. There is an urgent need to identify objective outcome measures of expressive language for use in this and other minimally verbal populations. One potential tool is an automated language processor called Language ENvironment Analysis (LENA). LENA was used to obtain over 542 h of audio in 18 children with PMS. LENA performance was adequate in a subset of children with PMS, specifically younger children and those with fewer stereotypic vocalizations. One LENA-derived language measure, Vocalization Ratio, had improved accuracy in this sample and may represent a novel expressive language measure for use in severely affected populations. En ligne : http://dx.doi.org/10.1007/s10803-017-3082-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=308 [article] Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Jacquelin RANKINE, Auteur ; Erin LI, Auteur ; Stacey LURIE, Auteur ; Hillary RIEGER, Auteur ; Emily FOURIE, Auteur ; Paige M. SIPER, Auteur ; A. Ting WANG, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur . - p.1605-1617. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-6 (June 2017) . - p.1605-1617 Mots-clés : Phelan-McDermid syndrome  22q13 deletion syndrome  Autism spectrum disorder  Automated vocal analysis  Language ENvironment  Analysis  Minimally verbal Index. décimale : PER Périodiques Résumé : Phelan-McDermid syndrome (PMS) is a single-locus cause of developmental delay, autism spectrum disorder, and minimal verbal abilities. There is an urgent need to identify objective outcome measures of expressive language for use in this and other minimally verbal populations. One potential tool is an automated language processor called Language ENvironment Analysis (LENA). LENA was used to obtain over 542 h of audio in 18 children with PMS. LENA performance was adequate in a subset of children with PMS, specifically younger children and those with fewer stereotypic vocalizations. One LENA-derived language measure, Vocalization Ratio, had improved accuracy in this sample and may represent a novel expressive language measure for use in severely affected populations. En ligne : http://dx.doi.org/10.1007/s10803-017-3082-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=308

Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID / Daniela M. COCHOY in Molecular Autism, (April 2015)  

Public ISBD [article]  inMolecular Autism > (April 2015) . - p.1-13 Titre : Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID Type de document : Texte imprimé et/ou numérique Auteurs : Daniela M. COCHOY, Auteur ; Alexander KOLEVZON, Auteur ; Yuji KAJIWARA, Auteur ; Michael SCHOEN, Auteur ; Maria PASCUAL-LUCAS, Auteur ; Stacey LURIE, Auteur ; Joseph D. BUXBAUM, Auteur ; Tobias M. BOECKERS, Auteur ; Michael J. SCHMEISSER, Auteur Année de publication : 2015 Article en page(s) : p.1-13 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : SHANK proteins are crucial for the formation and plasticity of excitatory synapses. Although mutations in all three SHANK genes are associated with autism spectrum disorder (ASD), SHANK3 appears to be the major ASD gene with a prevalence of approximately 0.5% for SHANK3 mutations in ASD, with higher rates in individuals with ASD and intellectual disability (ID). Interestingly, the most relevant mutations are typically de novo and often are frameshift or nonsense mutations resulting in a premature stop and a truncation of SHANK3 protein. En ligne : http://dx.doi.org/10.1186/s13229-015-0020-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID [Texte imprimé et/ou numérique] / Daniela M. COCHOY, Auteur ; Alexander KOLEVZON, Auteur ; Yuji KAJIWARA, Auteur ; Michael SCHOEN, Auteur ; Maria PASCUAL-LUCAS, Auteur ; Stacey LURIE, Auteur ; Joseph D. BUXBAUM, Auteur ; Tobias M. BOECKERS, Auteur ; Michael J. SCHMEISSER, Auteur . - 2015 . - p.1-13. Langues : Anglais (eng) in Molecular Autism > (April 2015) . - p.1-13 Index. décimale : PER Périodiques Résumé : SHANK proteins are crucial for the formation and plasticity of excitatory synapses. Although mutations in all three SHANK genes are associated with autism spectrum disorder (ASD), SHANK3 appears to be the major ASD gene with a prevalence of approximately 0.5% for SHANK3 mutations in ASD, with higher rates in individuals with ASD and intellectual disability (ID). Interestingly, the most relevant mutations are typically de novo and often are frameshift or nonsense mutations resulting in a premature stop and a truncation of SHANK3 protein. En ligne : http://dx.doi.org/10.1186/s13229-015-0020-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Schizophrenia and Other Psychotic Disorders in Autism Spectrum Disorder / Stacey LURIE ; Maya F. HUBERT

Public ISBD in The Oxford Handbook of Autism and Co-Occurring Psychiatric Conditions / Susan W. WHITE Titre : Schizophrenia and Other Psychotic Disorders in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Stacey LURIE, Auteur ; Maya F. HUBERT, Auteur Année de publication : 2020 Importance : p.53-72 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : There is substantial data pointing to evidence of heightened rates of psychotic experiences and schizophrenia spectrum disorders in individuals with autism spectrum disorder (ASD). Given overlapping genetics and neurobiology between the two disorders, the prevalence of this comorbidity is not surprising. And yet, psychosis in ASD has received relatively little attention in either the scientific or the clinical literatures. Following an introduction to the shared historical context of schizophrenia and ASD, this chapter reviews the diagnostic criteria for psychosis and the assessment tools available for evaluating symptoms. Difficulties in differentiating true psychotic symptoms from several hallmark ASD features, as well as in diagnosing psychosis in minimally verbal individuals with ASD, are highlighted, and recommendations for making this diagnostic distinction are offered. With regard to treatment, there is a striking absence of literature addressing how to treat psychosis when it presents in individuals with ASD. This chapter highlights best practice treatments for childhood-onset and adult schizophrenia and related disorders and discusses how these treatments might apply or need adaptation when treating an individual with ASD. Finally, this chapter offers recommendations for future research regarding the nature, prevalence, developmental course, assessment, and most effective treatments for schizophrenia and other psychotic disorders when they present in individuals with ASD. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=528 in The Oxford Handbook of Autism and Co-Occurring Psychiatric Conditions / Susan W. WHITE Schizophrenia and Other Psychotic Disorders in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Stacey LURIE, Auteur ; Maya F. HUBERT, Auteur . - 2020 . - p.53-72. Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Résumé : There is substantial data pointing to evidence of heightened rates of psychotic experiences and schizophrenia spectrum disorders in individuals with autism spectrum disorder (ASD). Given overlapping genetics and neurobiology between the two disorders, the prevalence of this comorbidity is not surprising. And yet, psychosis in ASD has received relatively little attention in either the scientific or the clinical literatures. Following an introduction to the shared historical context of schizophrenia and ASD, this chapter reviews the diagnostic criteria for psychosis and the assessment tools available for evaluating symptoms. Difficulties in differentiating true psychotic symptoms from several hallmark ASD features, as well as in diagnosing psychosis in minimally verbal individuals with ASD, are highlighted, and recommendations for making this diagnostic distinction are offered. With regard to treatment, there is a striking absence of literature addressing how to treat psychosis when it presents in individuals with ASD. This chapter highlights best practice treatments for childhood-onset and adult schizophrenia and related disorders and discusses how these treatments might apply or need adaptation when treating an individual with ASD. Finally, this chapter offers recommendations for future research regarding the nature, prevalence, developmental course, assessment, and most effective treatments for schizophrenia and other psychotic disorders when they present in individuals with ASD. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=528

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