Znaczenie czynników genetycznych oraz przed-i okołoporodowych w etiologii zaburzeń ze spektrum autyzmu--wskazania do konsultacji genetycznej
Filip Rybakowski , Izabela Chojnicka , Piotr Dziechciarz , Andrea Horvath , Małgorzata Janas-Kozik , Anetta Jeziorek , Ewa Pisula , Anna Piwowarczyk , Agnieszka Słopień , Joanna Sykut-Cegielska , Anna Szajewska , Krzysztof Szczałuba , Krystyna Szymańska , Anna Waligórska , Aneta Wojciechowska , Michał Wroniszewski , Anna Dunajska
AbstractAutism spectrum disorders (ASD) are caused by disruptions in early stages of central nervous system development and are usually diagnosed in first years of life. Despite com- mon features such as impairment of socio-communicative development and stereotypical behaviours, ASD are characterised by heterogeneous course and clinical picture. The most important aetiological factors comprise genetic and environmental influences acting at prena- tal, perinatal and neonatal period. The role of rare variants with large effect i.e. copy number variants in genes regulating synapse formation and intrasynaptic connections is emphasised. Common variants with small effect may also be involved, i.e. polymorphisms in genes encoding prosocial peptides system – oxytocin and vasopressin. The environmental factors may include harmful effects acting during pregnancy and labour, however their specificity until now is not confirmed, and in some of them a primary genetic origin cannot be excluded. In several instances, especially with comorbid disorders – intellectual disability, epilepsy and dysmorphias – a detailed molecular diagnostics is warranted, which currently may elucidate the genetic background of disorder in about 20% of cases.
|Journal series||Psychiatria Polska, ISSN 0033-2674, e-ISSN 2391-5854 , (A 15 pkt)|
|Publication size in sheets||0.55|
|Keywords in Polish||genetyka, zaburzenia ze spektrum autyzmu, etiopatogeneza|
|Keywords in English||genetics, autism spectrum disorders, aetiopathogenesis|
|Not used for evaluation||yes|
|Publication indicators||: 2016 = 0.566; : 2016 = 1.01 (2) - 2016=0.816 (5)|
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