title: [Diagnostics of the genetic causes of autism spectrum disorders - a clinical geneticist's view].
abstract: Explanation of the genetic basis of autism spectrum disorders has, for many decades, been a part of interest of researchers and clinicians. In recent years, thanks to modern molecular and cytogenetic techniques, a significant progress has been achieved in the diagnosis of genetic causes of autism. This applies particularly, but not exclusively, to those cases of autism that are accompanied by other clinical signs (i. e. complex phenotypes). The important clinical markers belong to different categories, and include congenital defects/anomalies, dysmorphism and macro-/microcephaly, to name the few. Thus, the choice of the diagnostic strategy depends on the clinical and pedigree information and, under Polish circumstances, the availability of specific diagnostic techniques and the amount of reimbursement under the National Health Service. Overall, the identification of the genetic causes of autism spectrum disorders is possible in about 10-30% of patients. In this paper the practical aspects of the use of different diagnostic techniques are briefly described. Some clinical examples and current recommendations for the diagnosis of patients with autism spectrum disorders are also presented. The point of view of a specialist in clinical genetics, increasingly involved, as part of the multidisciplinary care team, in the diagnostics of an autistic child has been demonstrated.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Szczaluba
mesh_terms: D001321:Autistic Disorder / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007360:Intelligence; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic