Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome / Artemios PEHLIVANIDIS in Journal of Autism and Developmental Disorders, 49-7 (July 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-7 (July 2019) . - p.3031-3035 Titre : Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome Type de document : texte imprimé Auteurs : Artemios PEHLIVANIDIS, Auteur ; Spyropoulou ARETI, Auteur ; KATERINA PAPANIKOLAOU, Auteur ; Helen FRYSSIRA, Auteur ; Tsoytsoy EIRINI, Auteur ; Papageorgiou CHARALAMBOS, Auteur Article en page(s) : p.3031-3035 Langues : Anglais (eng) Mots-clés : Affective disorder  High functioning autism spectrum disorder  Myhre syndrome  SMAD4 mutation Index. décimale : PER Périodiques Résumé : Myhre syndrome (MS) is a connective tissue disorder with multisystem involvement with or without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 individuals have been molecularly confirmed. Autism has been proposed among associate clinical features of MS but no standardized diagnosis was available in previous cases. We report a case of a 25-year-old man with a pathogenic heterozygous SMAD4 missense mutation affecting residue Arg(496) (SMAD4:p.Arg496Cys). Clinical findings are consistent with MS, commorbid with affective disorder and High Functioning Autism Spectrum Disorder confirmed by a standardized assessment procedure. The thorough clinical assessment of cases with syndromes such as MS can extend our knowledge on both the phenotypic characteristics of the syndrome and the genetic basis of autism. En ligne : http://dx.doi.org/10.1007/s10803-019-04015-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome [texte imprimé] / Artemios PEHLIVANIDIS, Auteur ; Spyropoulou ARETI, Auteur ; KATERINA PAPANIKOLAOU, Auteur ; Helen FRYSSIRA, Auteur ; Tsoytsoy EIRINI, Auteur ; Papageorgiou CHARALAMBOS, Auteur . - p.3031-3035. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-7 (July 2019) . - p.3031-3035 Mots-clés : Affective disorder  High functioning autism spectrum disorder  Myhre syndrome  SMAD4 mutation Index. décimale : PER Périodiques Résumé : Myhre syndrome (MS) is a connective tissue disorder with multisystem involvement with or without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 individuals have been molecularly confirmed. Autism has been proposed among associate clinical features of MS but no standardized diagnosis was available in previous cases. We report a case of a 25-year-old man with a pathogenic heterozygous SMAD4 missense mutation affecting residue Arg(496) (SMAD4:p.Arg496Cys). Clinical findings are consistent with MS, commorbid with affective disorder and High Functioning Autism Spectrum Disorder confirmed by a standardized assessment procedure. The thorough clinical assessment of cases with syndromes such as MS can extend our knowledge on both the phenotypic characteristics of the syndrome and the genetic basis of autism. En ligne : http://dx.doi.org/10.1007/s10803-019-04015-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-Generic for the Diagnosis of Autism Spectrum Disorders in a Greek Sample with a Wide Range of Intellectual Abilities / Katerina PAPANIKOLAOU in Journal of Autism and Developmental Disorders, 39-3 (March 2009)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 39-3 (March 2009) . - p.414-420 Titre : Using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-Generic for the Diagnosis of Autism Spectrum Disorders in a Greek Sample with a Wide Range of Intellectual Abilities Type de document : texte imprimé Auteurs : Katerina PAPANIKOLAOU, Auteur ; Elena PALIOKOSTA, Auteur ; Giorgos HOULIARAS, Auteur ; Sofia VGENOPOULOU, Auteur ; Eleni GIOUROUKOU, Auteur ; Artemios PEHLIVANIDIS, Auteur ; Vlassis TOMARAS, Auteur ; Ioannis TSIANTIS, Auteur Année de publication : 2009 Article en page(s) : p.414-420 Langues : Anglais (eng) Mots-clés : ADI-R ADOS-G Autism-spectrum-disorders Diagnosis Index. décimale : PER Périodiques Résumé : We studied the interrelationship between the Autism Diagnostic Observation Schedule-Generic (ADOS-G), the Autism Diagnostic Interview-Revised (ADI-R) and DSM-IV clinical diagnosis, in a Greek sample of 77 children and adolescents, referred for the assessment of a possible pervasive developmental disorder (PDD) and presenting a wide range of cognitive abilities. The agreement of the ADOS-G and the ADI-R with the clinical diagnosis was estimated as satisfactory and moderate, respectively, while both instruments presented with excellent sensitivity for the diagnosis of autistic disorder along with satisfactory specificity. ADOS-G/ADI-R agreement was estimated as fair. Our results confirm the discriminant validity of ADI-R and ADOS-G in diagnosing pervasive developmental disorders in children and adolescents with a wide range of intellectual abilities. En ligne : http://dx.doi.org/10.1007/s10803-008-0639-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=695 [article] Using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-Generic for the Diagnosis of Autism Spectrum Disorders in a Greek Sample with a Wide Range of Intellectual Abilities [texte imprimé] / Katerina PAPANIKOLAOU, Auteur ; Elena PALIOKOSTA, Auteur ; Giorgos HOULIARAS, Auteur ; Sofia VGENOPOULOU, Auteur ; Eleni GIOUROUKOU, Auteur ; Artemios PEHLIVANIDIS, Auteur ; Vlassis TOMARAS, Auteur ; Ioannis TSIANTIS, Auteur . - 2009 . - p.414-420. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 39-3 (March 2009) . - p.414-420 Mots-clés : ADI-R ADOS-G Autism-spectrum-disorders Diagnosis Index. décimale : PER Périodiques Résumé : We studied the interrelationship between the Autism Diagnostic Observation Schedule-Generic (ADOS-G), the Autism Diagnostic Interview-Revised (ADI-R) and DSM-IV clinical diagnosis, in a Greek sample of 77 children and adolescents, referred for the assessment of a possible pervasive developmental disorder (PDD) and presenting a wide range of cognitive abilities. The agreement of the ADOS-G and the ADI-R with the clinical diagnosis was estimated as satisfactory and moderate, respectively, while both instruments presented with excellent sensitivity for the diagnosis of autistic disorder along with satisfactory specificity. ADOS-G/ADI-R agreement was estimated as fair. Our results confirm the discriminant validity of ADI-R and ADOS-G in diagnosing pervasive developmental disorders in children and adolescents with a wide range of intellectual abilities. En ligne : http://dx.doi.org/10.1007/s10803-008-0639-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=695

---

1 (1 - 2 / 2) Par page : 25 50 100 200