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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2022; 80(06): 620-630
DOI: 10.1590/0004-282X-ANP-2021-0156
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Autism and Down syndrome: early identification and diagnosis

Autismo e síndrome de Down: identificação precoce e diagnóstico
Natália Lisce Fioravante Diniz 
1   Universidade Federal de Minas Gerais, Faculdade de Medicina, Programa Saúde da Criança e do Adolescente, Belo Horizonte MG, Brasil.
,
Erika Parlato-Oliveira 
1   Universidade Federal de Minas Gerais, Faculdade de Medicina, Programa Saúde da Criança e do Adolescente, Belo Horizonte MG, Brasil.
2   CRPMS, UFR Études Psychanalytiques, Université Paris Diderot, Paris, France
3   CRPMS, Université de Paris, Paris, France.
,
Priscila Gonçalves Ayres Pimenta 
4   Instituto Langage, São Paulo, Brasil.
,
Liubiana Arantes de Araújo 
1   Universidade Federal de Minas Gerais, Faculdade de Medicina, Programa Saúde da Criança e do Adolescente, Belo Horizonte MG, Brasil.
,
Eugênia Ribeiro Valadares 
1   Universidade Federal de Minas Gerais, Faculdade de Medicina, Programa Saúde da Criança e do Adolescente, Belo Horizonte MG, Brasil.
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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.

RESUMO

Antecedentes: O diagnóstico de autismo na síndrome de Down é subestimado, sendo necessário entender quais aspectos do fenótipo comportamental estão relacionados à síndrome de Down e quais são do autismo. Objetivo: Revisão Sistemática da Literatura sobre identificação precoce e diagnóstico do Transtorno do Espectro Autista em pacientes com síndrome de Down. Fonte de dados: Busca nas bases BVS, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science e Embase e avaliação pelo PRISMA. Síntese dos dados : De 1.729 artigos avaliados, foram selecionados 15. Apesar de ser bastante estudada, a identificação do transtorno do espectro do autismo na síndrome de Down pode ser difícil devido a compreensão de quais aspectos do fenótipo comportamental estão relacionados à síndrome de Down e quais são do autismo. Nessa revisão foi encontrada variação na prevalência de 12% a 41%. A identificação precoce de risco de autismo na síndrome de Down é pouco estudada mesmo existindo instrumentos de triagem para lactentes. Sobre o diagnóstico do autismo na síndrome de Down foram encontrados diversos instrumentos, mas é necessária abordagem desenvolvimental para um diagnóstico apurado. Conclusões: É destacada a importância de procedimentos de triagem de sinais precoces de risco de autismo ainda no primeiro ano de vida. São para estabelecimento do diagnóstico a escolha de instrumentos para a avaliação do desenvolvimento e cognição, análise dos aspectos qualitativos da interação social, dentre outros. A detecção precoce e o diagnóstico preciso no tempo correto e uma intervenção poderão beneficiar o desenvolvimento, a qualidade de vida e inclusão social.

Keywords:

Autism Spectrum Disorder - Down Syndrome - Diagnosis

Palavras-chave:

Transtorno do Espectro Autista - Síndrome de Down - Diagnóstico

Authors’ contributions:

NLFD: significant contribution to the conception and design of the study, scientific search, analysis of the data collected and writing of the final article; EPO: significant contribution to the conception and design of the study, analysis of the data collected and writing of the final article; PGAP: significant contribution to the scientific search, analysis of the data collected and writing of the final article; LAA: significant contribution to data analysis, critical review of the content and final writing of the article; ERV: significant contribution to the conception and design of the study, analysis of the data collected and writing of the final article




Publication History

Received: 02 March 2021

Accepted: 03 July 2021

Article published online:
06 February 2023

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