543_554

Psychiatr. Pol. 2016; 50(3): 543–554

DOI: http://dx.doi.org/10.12740/PP/43234

Filip Rybakowski, Izabela Chojnicka, Piotr Dziechciarz,
Andrea Horvath, Małgorzata Janas-Kozik, Anetta Jeziorek, Ewa Pisula,
Anna Piwowarczyk, Agnieszka Słopień, Joanna Sykut-Cegielska,
Hanna Szajewska, Krzysztof Szczałuba, Krystyna Szymańska, Anna Waligórska*,
Aneta Wojciechowska, Michał Wroniszewski, Anna Dunajska

UWAGA: *Errata: właściwa jest następująca afiliacja podwójna:
Uniwersytet SWPS, Wydział Psychologii w Warszawie; Centrum Terapii Autyzmu Sotis w Warszawie


FREE POLISH FULLTEXT:
Znaczenie czynników genetycznych oraz przed- i okołoporodowych w etiologii zaburzeń ze spektrum autyzmu – wskazania do konsultacji genetycznej

FREE ENGLISH FULLTEXT:
The role of genetic factors and pre- and perinatal influencesin the etiology of autism spectrum disorders – indicationsfor genetic referral

Summary
Autism 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 common 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 prenatal, 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.


ISSN 0033-2674 (PRINT)

ISSN 2391-5854 (ONLINE)


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Psychiatria Polska
is an open access journal


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