Autism Spectrum Disorders - The Role of Genetics in by S. Deutsch, et al.

By S. Deutsch, et al.

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This can be achieved with a more structured daily program of activities, the promotion of a realistic pattern of expectations among parents/caregivers, individualized instruction and, most importantly, the dissemination of knowledge about the persistence of the FXS behavioral phenotype. 2 Rett syndrome Rett syndrome (RS) was first described in 1966 by Andreas Rett. This syndrome is inherited in an X-linked manner, caused by a mutation in the Methyl-CpG-Binding Protein 2 (MECP2) gene (Xq28). In Figure 2, the location of the MECP2 gene is depicted.

9:11–29 30 Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment World Health Organization (WHO) (1993), The International Classification of Diseases and Disorders-10 (ICD-10) Classification of Mental and Behavioural Disorders: Diagnostic Criteria for Research. Geneva: World Health Organization 3 Autism and Genetic Syndromes Willem Verhoeven, Jos Egger and Ilse Feenstra Erasmus University Medical Centre, Rotterdam Radboud University Nijmegen, Nijmegen Vincent van Gogh Institute, Venray The Netherlands 1.

The research findings make it clear, however, that the pathophysiology of autism involves genes that code for proteins from the family of neurexins and neuroligins that play, in turn, a role in the development and functioning of synaptic and in particular glutamatergic and GABA-ergic networks (Lisé & El-Husseini, 2006; Buchsbaum, 2009). , 2003). 34 Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment When the classic microscopic cytogenetic route is followed, structural chromosomal aberrations are found in 3% to 7% of patients with autism and developmental delay.

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