Etiological Investigation of Autism Spectrum Disorders – State of The Art

Gonçalves, Daniel; Guardiano, Micaela; Leão, Miguel

Publication

Etiological Investigation of Autism Spectrum Disorders – State of The Art

2018-09-30Text

datacite.subject.fos	Ciências Médicas
dc.contributor.author	Gonçalves, Daniel
dc.contributor.author	Guardiano, Micaela
dc.contributor.author	Leão, Miguel
dc.date.accessioned	2025-11-14T15:26:51Z
dc.date.available	2025-11-14T15:26:51Z
dc.date.issued	2018-09-30
dc.description.abstract	Autism Spectrum Disorder is a Neurodevelopmental Disorder characterized by deficits in social interaction and by the presence of restricted, repetitive and stereotyped patterns of behaviours, interests, and activities. The aetiology of Autism Spectrum Disorder is often genetic, with several monogenic diseases clearly associated with this disorder. Significant advances in molecular genetics have increased the rate of etiological diagnosis of Autism Spectrum Disorder to about 30-40% in the last decade. The establishment of a definitive etiological diagnosis facilitates referral to community support services, contributes to knowledge of possible associated medical conditions and prevention of morbidity and mortality, while also eliminating inadequate diagnostic tests and allowing individualized genetic counselling. The authors present a proposal for an etiological investigation of this pathology, including criteria for performing complementary metabolic evaluation, neuroimaging and electroencephalography, and various genetic studies (conventional cytogenetics, Array-Comparative Genomic Hybridization, targeted molecular studies, multi-gene panels and Whole Exome Sequencing).	por
dc.identifier.citation	Gonçalves D, Guardiano M, Leão M. Etiological Investigation of Autism Spectrum Disorders – State of The Art. BGMJ [Internet]. 2018 Oct. 17 [cited 2025 Nov. 14];27(3):176-81. Available from: https://revistas.rcaap.pt/bgmj/article/view/12106
dc.identifier.doi	https://doi.org/10.25753/BirthGrowthMJ.v27.i3.12106
dc.identifier.issn	2183-9417
dc.identifier.uri	http://hdl.handle.net/10400.16/3797
dc.language.iso	eng
dc.peerreviewed	yes
dc.publisher	Centro Hospitalar do Porto
dc.relation.hasversion	https://revistas.rcaap.pt/bgmj/article/view/12106
dc.rights.uri	http://creativecommons.org/licenses/by-nc/4.0/
dc.subject	Autism
dc.subject	genetics
dc.subject	neurodevelopment
dc.title	Etiological Investigation of Autism Spectrum Disorders – State of The Art	eng
dc.type	text
dspace.entity.type	Publication
oaire.citation.endPage	181
oaire.citation.issue	3
oaire.citation.startPage	176
oaire.citation.title	Nascer e Crescer - Birth and Growth Medical Journal
oaire.citation.volume	27
oaire.version	http://purl.org/coar/version/c_970fb48d4fbd8a85