Summary
Definition
History and exam
Key diagnostic factors
- 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
Other diagnostic factors
- calmo ou muito irritado quando bebê
- dificuldades na alimentação
- postura incomum
- estereotipias motoras
- interesses ou dificuldades sensoriais
- evidência de outro transtorno do neurodesenvolvimento
- macrocefalia
Risk factors
- sexo masculino
- história familiar positiva
- exposição a valproato durante a gestação
- variantes genéticas
- anormalidades cariotípicas (cromossômicas)
- maior idade parental
- prematuridade
Diagnostic tests
1st tests to order
- 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)
Tests to consider
- 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])
Treatment algorithm
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
Contributors
Authors
Jeremy Parr, MB ChB, MRCPCH, MD
Professor/Honorary Consultant
Population Health Sciences Institute
Newcastle University
Newcastle upon Tyne
UK
Disclosures
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

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
Disclosures
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.
Peer reviewers
Robert Findling, MD, MBA
Chair
Department of Psychiatry
Virginia Commonwealth University
Richmond
VA
Disclosures
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
Disclosures
MA declares that he has no competing interests.
Grant Stewart, BA Hons
Consumer Health and Multimedia Manager
British Medical Journal (BMJ)
London
UK
Disclosures
GS declares that he is an employee of BMJ.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Baird G, Simonoff E, Pickles A, et al. Prevalence of disorders of the autistic spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet. 2006 Jul 15;368(9531):210-5. Abstract
Hyman SL, Levy SE, Myers SM, et al. Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020 Jan;145(1):e20193447.Full text Abstract
Scottish Intercollegiate Guidelines Network. Assessment, diagnosis and interventions for autism spectrum disorders. June 2016 [internet publication].Full text
Anagnostou E, Zwaigenbaum L, Szatmari P, et al. Autism spectrum disorder: advances in evidence-based practice. CMAJ. 2014 Apr 15;186(7):509-19. Abstract
National Institute for Health and Care Excellence. Autism spectrum disorder in adults: diagnosis and management. June 2021 [internet publication].Full text
Baird G, Cass H, Slonims V. Diagnosis of autism. BMJ. 2003 Aug 30;327(7413):488-93.Full text Abstract
Le Couteur A, Haden G, Hammal D, et al. Diagnosing autistic spectrum disorders in pre-school children using two standardised assessment instruments: the ADI-R and the ADOS. J Autism Dev Disord. 2008 Feb;38(2):362-72. Abstract
Parr J. Autism. BMJ Clin Evid. 2010 Jan 7;2010:0322.Full text
National Institute for Health and Care Excellence. Autism spectrum disorder in under 19s: support and management. June 2021 [internet publication].Full text
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Outras causas de desenvolvimento comprometido/dificuldades de aprendizagem/deficiência intelectual ou outro transtorno de neurodesenvolvimento
- Transtorno de deficit da atenção com hiperatividade (TDAH)
- Transtorno de comunicação social (pragmático)
More DifferentialsGuidelines
- Autism spectrum disorder in adults: diagnosis and management
- Autism spectrum disorder in under 19s: support and management
More GuidelinesPatient information
Transtorno do espectro do autismo: informações para pais - Estratégias de apoio
Transtorno do espectro do autismo: perguntas para fazer ao seu médico sobre seu filho
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