Синдром на Клайнфелтер и аутизъм - клиничен случай. (Russian)

Klinefelter Syndrome and Autism - Case Report. (English)

Autism is a complex behaviorally-defined disorder of the immature brain. It is characterized by deficits in communication and social interaction and restricted, repetitive patterns of behavior, activities and interests. Autism spectrum disorders are a heterogeneous group of conditions with multifactorial etiology, not completely understood, with a major role of genetic factors. We report a case of a 11- year-old boy with a long history of stereotypic behavior, poor social skills, repetitive/compulsive activities and language delays. It was diagnosed with atypical autism. A genetic evaluation demonstrated Klinefelter syndrome (KS) 47,XXY karyotype. KS has been associated with behavior disorders, including autism. It is recommended for every patient, who covers full criteria for autism, needs to receive genetic testing and all boys with KS should receive autism-specific screening. [ABSTRACT FROM AUTHOR]

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