Naslov
Diagnostic algorithm for children with autism

Autori
Odak, Ljubica ; Barišić, Ingeborg ; Morožin Pohovski, Leona ; Sansović, Ivona ; Dumić, Katja ; Jakušić, Nenad ; Klobučar, Aleksandra ; Grgurić, Josip

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine Book of Abstracts / - Zagreb : International Society for Applied Biological Sciences (ISABS), 2011, 261-261

Skup
Fifth Croatian Congress on Human Genetics satellite meeting of The Seventh ISABS Conference on Forensic, Anthropologic and Medical Genetics

Mjesto i datum
Bol, Hrvatska, 20.06.2011. - 24.06.2011

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
autism ; genetics ; diagnosis ; children ; chromosome

Sažetak
Autistic spectrum disorders (ASD) is a complex neurodevelopmental disorder diagnosed in early childhood. It is characterized by impairment of social interactions, communication, and stereotyped, repetitive behavior. The causes of ASD are mostly genetic, but due to the heterogeneous and often complex nature of disease, molecular basis in many patients remains unexplained. Advances in cytogenetic and molecular techniques provide the possibility to identify the etiology in increasing number of affected individuals. Defining the specific cause of the disorder is especially important because it provides reliable recurrence risk assessment, possibility of prenatal testing and carrier detection. An accurate causal diagnosis is also important for determining the natural course of the disease, potential medical complications and possible therapeutic approaches. Genetic diagnosis therefore should be offered to all affected families. Due to the frequency of autism and increasing number of available diagnostic tests, it is important to find efficient, accurate and rational diagnostic approach that will take into consideration costs and expected diagnostic yield.Here we present diagnostic workup and outcome in 100 patients admitted to our hospital for the evaluation of ASD and propose diagnostic strategy for the clinical genetic evaluation of patients with ASD.

Izvorni jezik
Engleski

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