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

Abstract

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 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.
Author Filip Rybakowski (Wydział Zamiejscowy w Poznaniu)
Filip Rybakowski,,
- Wydział Zamiejscowy w Poznaniu
, Izabela Chojnicka
Izabela Chojnicka,,
-
, Piotr Dziechciarz
Piotr Dziechciarz,,
-
, Andrea Horvath
Andrea Horvath,,
-
, Małgorzata Janas-Kozik
Małgorzata Janas-Kozik,,
-
, Anetta Jeziorek
Anetta Jeziorek,,
-
, Ewa Pisula
Ewa Pisula,,
-
, Anna Piwowarczyk
Anna Piwowarczyk,,
-
, Agnieszka Słopień
Agnieszka Słopień,,
-
, Joanna Sykut-Cegielska
Joanna Sykut-Cegielska,,
-
et al.`
Journal seriesPsychiatria Polska, ISSN 0033-2674, e-ISSN 2391-5854 , (A 15 pkt)
Issue year2016
Vol50
No3
Pages543-554
Publication size in sheets0.55
Keywords in Polishgenetyka, zaburzenia ze spektrum autyzmu, etiopatogeneza
Keywords in Englishgenetics, autism spectrum disorders, aetiopathogenesis
ASJC Classification2738 Psychiatry and Mental health; 2700 General Medicine
DOIDOI:10.12740/PP/43234
URL http://www.psychiatriapolska.pl/uploads/images/PP_3_2016/543Rybakowski_PsychiatrPol2016v50i3.pdf
Languagepl polski
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waligorska_osw_ zn.pdf 210.58 KB
Uniwersytet SWPS Mail - Fwd_ ad korekta afiliacji.pdf 55.84 KB
Not used for evaluationyes
Score (nominal)0
Publication indicators Scopus SNIP (Source Normalised Impact per Paper): 2016 = 0.566; WoS Impact Factor: 2016 = 1.01 (2) - 2016=0.816 (5)
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