Autism and Down syndrome: early identification and diagnosis
Abstract: Background: The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a systematic review of the literature on early identification and diagnosis of ASD in patients with DS. Data source: The VHL, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science and Embase databases were searched and data were evaluated using PRISMA. Data synthesis: Out of 1,729 articles evaluated, 15 were selected. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. In this review, the prevalence of ASD was found to range from 12% to 41%. Early identification of autism risk in individuals with Down syndrome is still poorly studied, even though there are screening instruments for infants. Several instruments for diagnosing autism in individuals with Down syndrome were found, but a developmental approach is fundamental for making a clear diagnosis. Conclusions: Screening procedures are important for detecting early signs of autism risk in the first year of life. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion.
- Alternative title
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Autismo e síndrome de Down: identificação precoce e diagnóstico
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Autism and Down syndrome: early identification and diagnosis ; volume:80 ; number:06 ; year:2022 ; pages:620-630
Arquivos de neuro-psiquiatria ; 80, Heft 06 (2022), 620-630
- Contributor
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Diniz, Natália Lisce Fioravante
Parlato-Oliveira, Erika
Pimenta, Priscila Gonçalves Ayres
Araújo, Liubiana Arantes de
Valadares, Eugênia Ribeiro
- DOI
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10.1590/0004-282X-ANP-2021-0156
- URN
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urn:nbn:de:101:1-2023032311262395276447
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:59 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Diniz, Natália Lisce Fioravante
- Parlato-Oliveira, Erika
- Pimenta, Priscila Gonçalves Ayres
- Araújo, Liubiana Arantes de
- Valadares, Eugênia Ribeiro
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Pragmatic competence in people with dual diagnosis: down syndrome and autism spectrum disorder
Learning by exclusion in individuals with autism and Down syndrome
Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder
Adolescent adaptive behavior profiles in Williams–Beuren syndrome, Down syndrome, and autism spectrum disorder
Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers
Down Syndrome: how to communicate the diagnosis
Prospective study of autism phenomenology and the behavioural phenotype of Phelan–McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder
Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome
Co-occurring conditions in children with Down syndrome and autism: a retrospective study
Metabolomics of mothers of children with autism, idiopathic developmental delay, and Down syndrome
Communicative Competence in parents of children with autism, Specific Language Impairment and Down Syndrome