Última revisão: 28 Set 2021
Última atualização: 19 Mai 2021

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • presença de fatores de risco
  • atraso ou regressão na linguagem
  • deficit na comunicação verbal e não verbal
  • comprometimento social
  • atividades, interesses ou comportamentos repetitivos, rígidos ou estereotipados

Outros fatores diagnósticos

  • calmo ou muito irritado quando bebê
  • dificuldades na alimentação
  • postura incomum
  • estereotipias motoras
  • interesses ou dificuldades sensoriais
  • evidência de outro transtorno do neurodesenvolvimento
  • macrocefalia

Fatores de risco

  • sexo masculino
  • história familiar positiva
  • exposição a valproato durante a gestação
  • variantes genéticas
  • anormalidades cariotípicas (cromossômicas)
  • maior idade parental
  • prematuridade

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • testes de rastreamento de transtorno do espectro autista (TEA)
  • escala de classificação de autismo infantil (CARS)
  • checklist de autismo em bebês modificada (M-CHAT)
  • teste de rastreamento de autismo infantil (CAST)

Investigações a serem consideradas

  • questionários de diagnóstico (por exemplo, Entrevista de Diagnóstico de Autismo revisada [ADI-R]; Entrevista Desenvolvimental, Dimensional e Diagnóstica [3di]; Diagnostic Interview for Social and Communication Disorders [DISCO])
  • Programa de Observação Diagnóstica do Autismo (ADOS)
  • exame cutâneo com a lâmpada de Wood
  • teste genético
  • eletroencefalograma (EEG)
  • ressonância nuclear magnética (RNM) cranioencefálica
  • audiologia
  • exame específico para distúrbios genéticos (por exemplo, deleção da proteína de ligação a M-metil-CpG [MECP2])

Algoritmo de tratamento

Colaboradores

Autores

Jeremy Parr, MB ChB, MRCPCH, MD

Professor/Honorary Consultant

Population Health Sciences Institute

Newcastle University

Newcastle upon Tyne

UK

Declarações

JP is a director and shareholder in XRTherapeutics, which offers virtual reality intervention for situation specific anxiety and phobia for people with autism and other conditions. He is named on a patent owned by Third Eye Neurotech and would receive royalties from this, through Newcastle University. JP previously chaired Research Autism's Scientific Advisory Committee; was an expert advisor to the National Autism Project; sits on the Autistica Discover Steering Committee; currently chairs the Autistica Physical Health and Ageing Research Group; and currently chairs the British Academy of Childhood Disability Strategic Research Group. He has not received payment for any of this activity. JP works for the UK NHS and sees children and young adults on the autism spectrum to give advice about diagnosis and treatments/interventions. JP runs research programmes focused on autism from Newcastle University, and has received grants and published research papers in that context. JP is an author of a number of references cited in this topic.

Marc Woodbury-Smith, MB ChB, PhD, MRCPsych
Marc Woodbury-Smith

Clinical Senior Lecturer/Honorary Consultant

Biosciences Institute

Newcastle University

Newcastle upon Tyne

UK

Associate Investigator

Centre for Applied Genomics

Hospital for Sick Children

Toronto

Canada

Declarações

MWS has received consultation fees from Servier Pharmaceuticals in connection with a clinical trial on which he was national co-ordinator (2018-2019). MWS is the co-author of references cited in this topic.

Revisores

Michael Craig, MBBS,​ BSc(Hons), PhD, FRCOG, FRCPsych

Senior Lecturer & Honorary Consultant

Department of Forensic and Neurodevelopmental Sciences

Institute of Psychiatry

De Crespigny Park

London

UK

Declarações

MC declares that he has no competing interests.

Kevin Sanders, MD

Associate Clinical Professor of Psychiatry and Pediatrics

Vanderbilt Department of Psychiatry

Nashville

TN

Declarações

KS declares that he has no competing interests.

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