Summary
Definición
Anamnesis y examen
Principales factores de diagnóstico
- presença de fatores de risco
- gestação <37 semanas
- altura, peso e perímetro cefálico baixos
- dismorfia facial característica
- presença de malformações congênitas
- desenvolvimento tardio e problemas comportamentais
- problemas de saúde mental
- irmãos com sintomas semelhantes
Otros factores de diagnóstico
- comprometimento de audição ou visão
- baixa aceitação alimentar
- irritabilidade
Factores de riesgo
- ingestão materna de bebidas alcoólicas na gestação
- ingestão materna atual de bebidas alcoólicas
- maior paridade/número de gestações
- maior ordem de nascimento da criança
- genótipo materno ADH1B*1/ADH1B*3 ou ADH1B*1/ADH1B*1
- história prolongada de consumo materno de bebidas alcoólicas
- aumento da idade materna
- diminuição do peso, da altura e do perímetro cefálico maternos
- uso materno de tabaco na gestação
- condição socioeconômica materna baixa
- história familiar de consumo materno de bebidas alcoólicas
- etnia indígena materna
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- avaliação fotográfica facial
Pruebas diagnósticas que deben considerarse
- ultrassonografia pré-natal do feto
- eletrocardiograma (ECG)
- ecocardiograma
- eletroencefalograma (EEG)
- Ressonância nuclear magnética (RNM)/tomografia computadorizada (TC) de crânio
- ultrassonografia renal
- radiografia esquelética
- exames de sangue de rastreamento
- análise cromossômica por microarray
Pruebas emergentes
- ressonância nuclear magnética (RNM) funcional
- espectroscopia por ressonância magnética
- imagem facial tridimensional
Algoritmo de tratamiento
todos os pacientes
Colaboradores
Autores
Elizabeth Elliott, MD, MPhil, MBBS, FRACP, FRCPCH, FRCP
Professor of Paediatrics and Child Health
Faculty of Medicine and Health
University of Sydney
Consultant Paediatrician
The Children's Hospital at Westmead
Sydney
Director
Australian Paediatric Surveillance Unit
Head, New South Wales Fetal Alcohol Spectrum Disorder Assessment Servicer
Westmead
Australia
Divulgaciones
EE is an author of a number of references cited in this monograph but has no other competing interests.
Agradecimientos
Professor Elizabeth Elliott would like to gratefully acknowledge Dr Elizabeth Peadon, a previous contributor to this monograph. EP is an author of a number of references cited in this monograph.
Revisores por pares
Albert E. Chudley, MD, FRCPC, FCCMG
Medical Director
Program in Genetics and Metabolism
Professor
Department of Pediatrics and Child Health
University of Manitoba
Winnipeg
Canada
Divulgaciones
AEC has been paid an honorarium and consulting fees for the development of screening tools for identifying individuals at risk for FASD in Canada. AEC is an author of a number of references cited in this monograph.
Carol Bower, MD
Clinical Professor
Senior Principal Research Fellow
Telethon Institute for Child Health Research
Centre for Child Health Research
The University of Western Australia
Perth
Australia
Disclosures
CB is an author of a number of references cited in this monograph, and sometimes collaborates with the authors.
Philip A. May, MD, PhD
Professor of Sociology
Professor of Family and Community Medicine
The University of New Mexico
Albuquerque
NM
Disclosures
PAM is an author of a number of references cited in this monograph.
Deborah Badawi, MD
Assistant Professor of Pediatrics
Division Head, Developmental-Behavioral Pediatrics
University of Maryland School of Medicine
Baltimore
MD
Disclosures
DB declared no competing interests.
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
Jones KL, Smith DW. Recognition of the fetal alcohol syndrome in early infancy. Lancet. 1973;302:999-1001. Abstract
Carson G, Cox LV, Crane J, et al.; Society of Obstetricians and Gynaecologists of Canada. Alcohol use and pregnancy consensus clinical guidelines. J Obstet Gynaecol Can. 2010 Aug;32(8 suppl 3):S1-31. Abstract
Astley SJ. Diagnostic guide for fetal alcohol spectrum disorders: the 4-digit diagnostic code. 3rd ed. Seattle, WA: University of Washington; 2004.Full text
Cook JL, Green CR, Lilley CM, et al. Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan. CMAJ. 2016 Feb 16;188(3):191-7.Full text Abstract
Streissguth AP, Bookstein FL, Barr HM, et al. Risk factors for adverse life outcomes in fetal alcohol syndrome and fetal alcohol effects. J Dev Behav Pediatr. 2004 Aug;25(4):228-38. Abstract
Koren G, Sarkar M, Rosenbaum C, et al. The maternal drinking history guide: development of a national educational tool. J Popul Ther Clin Pharmacol. 2013;20(1):e42-3. Abstract
Sarkar M, Burnett M, Carriere S, et al. Screening and recording of alcohol use among women of child-bearing age and pregnant women. Can J Clin Pharmacol. 2009 Winter;16(1):e242-63. Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Síndrome de hidantoína fetal
- Síndrome de valproato fetal
- Embriopatia do tolueno
More DifferentialsGuidelines
- Fetal alcohol spectrum disorders
- Report to the Australian Government Department of Health: Australian guide to the diagnosis of fetal alcohol spectrum disorder
More GuidelinesPatient information
Transtornos do espectro alcoólico fetal: o que é?
TDAH: o que é?
More Patient information
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