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Transtorno do espectro autista

Última revisão: 30 Sep 2024
Última atualização: 13 Jun 2023

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
Detalhes completos

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
Detalhes completos

Fatores de risco

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

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)
Detalhes completos

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 de pele com 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])
Detalhes completos

Algoritmo de tratamento

Contínua

crianças em idade pré-escolar de 12 meses a 5 anos (ou idade de desenvolvimento equivalente)

crianças em idade pré-escolar de 5 a 18 anos (ou idade de desenvolvimento equivalente)

adultos

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

Robert Findling, MD, MBA

Chair

Department of Psychiatry

Virginia Commonwealth University

Richmond

VA

Declarações

RF declares that he has acted as a consultant for, and/or has received honoraria or research support from the following: Acadia, Adamas, Aevi, Afecta, Akili, Alkermes, Allergan, American Academy of Child & Adolescent Psychiatry, American Psychiatric Press, Arbor, Axsome, Daiichi-Sankyo, Emelex, Gedeon Richter, Genentech, Idorsia, Intra-Cellular Therapies, Kempharm, Luminopia, Lundbeck, MedAvante-ProPhase, Merck, MJH Life Sciences, NIH, Neurim, Otsuka, PaxMedica, PCORI, Pfizer, Physicians Postgraduate Press, Q BioMed, Receptor Life Sciences, Roche, Sage, Signant Health, Sunovion, Supernus Pharmaceuticals, Syneos, Syneurx, Takeda, Teva, Tris, and Validus.

Michael Absoud, FRCPCH, PhD

Consultant in Paediatric Neurodisability

Joint Head of Service

Children’s Neurosciences

Reader in Paediatric Neurosciences

Evelina London Children’s Hospital

Department of Women and Children’s Health

King’s College

London

UK

Declarações

MA declares that he has no competing interests.

Grant Stewart, BA Hons

Consumer Health and Multimedia Manager

British Medical Journal (BMJ)

London

UK

Declarações

GS declares that he is an employee of BMJ.

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