Özet:

Autism affects approximately 1/100 people. The main problems in this disease, in which genetic factors play important causative roles appear in areas of social interactions, language acquisition and communication skills. Stereotypical movements and serious limitation in interests are seen in the majority of patients. Intellectual deficiency seen in 75% of the patients requires life-long social and educational support, therefore causes a serious health concern. Data obtained from research studies for delineating autism etiology revealed significant correlations between autism and some cytogenetic aberrations in almost every chromosome. Recent technical advances in molecular genetics facilitated evaluations in a finer level and thus caused the identification of significant associations between autism and genomic copy number variations. In addition to some chromosomal abnormalities revealed via conventional cytogenetic analyses and various copy number variations detected through molecular methods, many genetic syndromes caused by single gene mutations have autism signs. Delineation of etiopathogenesis has major implications in the planning of a treatment strategy and genetic counseling related with disease course and recurrence risk. Cytogenetic and molecular tests for autism diagnosis must be performed according to the results of algorithms formed with genetic details and genetic abnormalities and syndromes related with autism must be ruled out in differential diagnosis. Thus, the prevention of potential complications and the onset of appropriate therapy can be possible. Conclusively, medical management of autistic patients must be handled by a team approach and this team must consist of clinicians appropriate for the patient’s age, psychologist/pedagogue, physiotherapist, speech therapist and a medical geneticist.

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