[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 et/ou numérique
Auteurs :	P. ARTEMIOS, Auteur ; S. ARETI, Auteur ; P. KATERINA, Auteur ; F. HELEN, Auteur ; T. EIRINI, Auteur ; P. 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 et/ou numérique] / P. ARTEMIOS, Auteur ; S. ARETI, Auteur ; P. KATERINA, Auteur ; F. HELEN, Auteur ; T. EIRINI, Auteur ; P. 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