Summary
Definition
Anamnesis y examen
Principales factores de diagnóstico
- 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
Otros factores de diagnóstico
- calmo ou muito irritado quando bebê
- dificuldades na alimentação
- postura incomum
- estereotipias motoras
- interesses ou dificuldades sensoriais
- evidência de outro transtorno do neurodesenvolvimento
- macrocefalia
Factores de riesgo
- sexo masculino
- história familiar positiva
- exposição a valproato durante a gestação
- variantes genéticas
- anormalidades cariotípicas (cromossômicas)
- maior idade parental
- prematuridade
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- 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)
Pruebas diagnósticas que deben considerarse
- 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])
Algoritmo de tratamiento
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
Divulgaciones
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
Divulgaciones
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 por pares
Robert Findling, MD, MBA
Chair
Department of Psychiatry
Virginia Commonwealth University
Richmond
VA
Divulgaciones
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
Divulgaciones
MA declares that he has no competing interests.
Grant Stewart, BA Hons
Consumer Health and Multimedia Manager
British Medical Journal (BMJ)
London
UK
Divulgaciones
GS declares that he is an employee of BMJ.
Agradecimiento de los revisores por pares
Los temas de BMJ Best Practice se actualizan de forma continua de acuerdo con los desarrollos en la evidencia y en las guías. Los revisores por pares listados aquí han revisado el contenido al menos una vez durante la historia del tema.
Divulgaciones
Las afiliaciones y divulgaciones de los revisores por pares se refieren al momento de la revisión.
Referencias
Artículos principales
Levy SE, Mandell DS, Schultz RT. Autism. Lancet. 2009 Nov 7;374(9701):1627-38.Texto completo Resumen
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. Resumen
Hyman SL, Levy SE, Myers SM, et al. Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020 Jan;145(1):e20193447.Texto completo Resumen
Scottish Intercollegiate Guidelines Network. Assessment, diagnosis and interventions for autism spectrum disorders. June 2016 [internet publication].Texto completo
Anagnostou E, Zwaigenbaum L, Szatmari P, et al. Autism spectrum disorder: advances in evidence-based practice. CMAJ. 2014 Apr 15;186(7):509-19. Resumen
National Institute for Health and Care Excellence. Autism spectrum disorder in adults: diagnosis and management. June 2021 [internet publication].Texto completo
Baird G, Cass H, Slonims V. Diagnosis of autism. BMJ. 2003 Aug 30;327(7413):488-93.Texto completo Resumen
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. Resumen
Parr J. Autism. BMJ Clin Evid. 2010 Jan 7;2010:0322.Texto completo
National Institute for Health and Care Excellence. Autism spectrum disorder in under 19s: support and management. June 2021 [internet publication].Texto completo
Artículos de referencia
Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
Diferenciales
- 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)
Más DiferencialesGuías de práctica clínica
- Autism spectrum disorder in adults: diagnosis and management
- Autism spectrum disorder in under 19s: support and management
Más Guías de práctica clínicaFolletos para el paciente
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
Más Folletos para el pacienteInicie sesión o suscríbase para acceder a todo el BMJ Best Practice
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