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Case Reports
. 2019 Jul;49(7):3031-3035.
doi: 10.1007/s10803-019-04015-y.

Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome

Pehlivanidis Artemios  1 , Spyropoulou Areti  2 , Papanikolaou Katerina  3 , Fryssira Helen  4 , Tsoytsoy Eirini  4 , Papageorgiou Charalambos  2
Affiliations
Case Reports

Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome

Pehlivanidis Artemios et al. J Autism Dev Disord. 2019 Jul.

Abstract

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 Arg496 (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.

Keywords: Affective disorder; High functioning autism spectrum disorder; Myhre syndrome; SMAD4 mutation.

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Supplementary concepts