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Journal of Autism and Developmental Disorders

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09-04-2019 | Letter to the Editor

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

Auteurs: Pehlivanidis Artemios, Spyropoulou Areti, Papanikolaou Katerina, Fryssira Helen, Tsoytsoy Eirini, Papageorgiou Charalambos

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 7/2019

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.

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Titel: Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome
Auteurs: Pehlivanidis Artemios
Spyropoulou Areti
Papanikolaou Katerina
Fryssira Helen
Tsoytsoy Eirini
Papageorgiou Charalambos
Publicatiedatum: 09-04-2019
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 7/2019
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-019-04015-y

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