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 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 tratamento
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](/api/image/379/pt-br/normal/707-auth-1_default.jpg)
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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