title: The role of genetic factors and pre- and perinatal influences in the etiology of autism spectrum disorders - indications for genetic referral.
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 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.
authors.affiliation: Klinika Psychiatrii Dzieci i Młodzieży IPiN w Warszawie.
authors.forename: Filip
authors.initials: F
authors.lastname: Rybakowski
authors.affiliation: Poradnia Zaburzeń Komunikowania Kliniki Audiologii i Foniatrii, Instytut Fizjologii i Patologii Słuchu w Kajetanach.
authors.forename: Izabela
authors.initials: I
authors.lastname: Chojnicka
authors.affiliation: Klinika Pediatrii WUM.
authors.forename: Piotr
authors.initials: P
authors.lastname: Dziechciarz
authors.affiliation: Klinika Pediatrii WUM.
authors.forename: Andrea
authors.initials: A
authors.lastname: Horvath
authors.affiliation: Klinika Psychiatrii i Psychoterapii ŚUM w Katowicach.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Janas-Kozik
authors.affiliation: Klinika Neurologii WUM.
authors.forename: Anetta
authors.initials: A
authors.lastname: Jeziorek
authors.affiliation: Katedra Psychologii Rehabilitacyjnej Uniwersytetu Warszawskiego.
authors.forename: Ewa
authors.initials: E
authors.lastname: Pisula
authors.affiliation: Klinika Pediatrii WUM.
authors.forename: Anna
authors.initials: A
authors.lastname: Piwowarczyk
authors.affiliation: Klinika Psychiatrii Dzieci i Młodzieży UM w Poznaniu.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Słopień
authors.affiliation: Klinika Chorób Metabolicznych, Centrum Zdrowia Dziecka w Warszawie.
authors.forename: Joanna
authors.initials: J
authors.lastname: Sykut-Cegielska
authors.affiliation: Klinika Pediatrii WUM.
authors.forename: Hanna
authors.initials: H
authors.lastname: Szajewska
authors.affiliation: Poradnia Genetyczna Medgen w Warszawie.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Szczałuba
authors.affiliation: Klinika Psychiatrii Wieku Rozwojowego WUM.
authors.forename: Krystyna
authors.initials: K
authors.lastname: Szymańska
authors.affiliation: Centrum Terapii Autyzmu SOTIS w Warszawie.
authors.forename: Anna
authors.initials: A
authors.lastname: Waligórska
authors.affiliation: Zakład Pedagogiki Specjalnej UAM w Poznaniu.
authors.forename: Aneta
authors.initials: A
authors.lastname: Wojciechowska
authors.affiliation: Fundacja Synapsis w Warszawie.
authors.forename: Michał
authors.initials: M
authors.lastname: Wroniszewski
authors.affiliation: Poradnia Zaburzeń Komunikowania Kliniki Audiologii i Foniatrii, Instytut Fizjologii i Patologii Słuchu w Kajetanach.
authors.forename: Anna
authors.initials: A
authors.lastname: Dunajska
mesh_terms: D001238:Asphyxia Neonatorum / Q000453:epidemiology* / Q000235:genetics; D000067877:Autism Spectrum Disorder / Q000453:epidemiology* / Q000235:genetics; D002659:Child Development Disorders, Pervasive / Q000453:epidemiology* / Q000235:genetics; D015897:Comorbidity; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications / Q000453:epidemiology*; D047928:Premature Birth / Q000453:epidemiology; D011297:Prenatal Exposure Delayed Effects / Q000453:epidemiology* / Q000235:genetics
keywords: aetiopathogenesis; autism spectrum disorders; genetics