Considered a spectrum of disorders that includes fetal alcohol syndrome, partial fetal alcohol syndrome, alcohol-related neurodevelopmental disorder, and alcohol-related birth defects.
Caused by fetal exposure to alcohol during pregnancy.
Early diagnosis may prevent secondary disabilities, but many clinicians are unaware of, or are confused by, existing diagnostic criteria and terminology.
Management involves identifying and working with a child's specific strengths and weaknesses; however, there is a paucity of evidence for efficacy of specific treatments.
Prevention is a priority, as brain injury sustained in utero is permanent and is associated with severe physical, behavioral, learning, and mental health problems.
Fetal alcohol spectrum disorders (FASD) refers to group of conditions that may result from fetal exposure to alcohol. Disorders include fetal alcohol syndrome (FAS), partial FAS, alcohol-related neurodevelopmental disorder (ARND), and alcohol-related birth defects (ARBD). FAS is characterized by prenatal and postnatal growth retardation, specific facial dysmorphology, and structural and/or functional abnormalities of the CNS. This monograph primarily addresses FASD in children.
History and exam
Key diagnostic factors
- gestation <37 weeks
- low height, weight, head circumference
- characteristic facial dysmorphology
- presence of birth defects
- developmental delay and behavioral problems
- mental health problems
- sibling with similar symptoms
Other diagnostic factors
- hearing or vision impairment
- poor feeding
- maternal alcohol intake during pregnancy
- current maternal alcohol intake
- higher parity/gravidity
- higher birth order of child
- maternal ADH1B*1/ADH1B*3 or ADH1B*1/ADH1B*1 genotype
- longer history of maternal alcohol consumption
- increasing maternal age
- decreased maternal weight, height, and head circumference
- maternal tobacco use during pregnancy
- low maternal socioeconomic status
- maternal family history of alcohol consumption
- maternal Indigenous ethnicity
1st investigations to order
- facial photographic assessment
Investigations to consider
- prenatal ultrasonography of fetus
- MRI/CT head
- renal ultrasonography
- skeletal x-ray
- screening blood tests
- chromosome microarray
- functional MRI
- magnetic resonance spectroscopy
- 3-dimensional facial imaging
Elizabeth Elliott, MD, MPhil, MBBS, FRACP, FRCPCH, FRCP
Professor of Paediatrics and Child Health
Faculty of Medicine and Health
University of Sydney
The Children's Hospital at Westmead
Australian Paediatric Surveillance Unit
EE is an author of a number of references cited in this monograph.
Dr 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.
Albert E. Chudley, MD, FRCPC, FCCMG
Program in Genetics and Metabolism
Department of Pediatrics and Child Health
University of Manitoba
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
Senior Principal Research Fellow
Telethon Institute for Child Health Research
Centre for Child Health Research
The University of Western Australia
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
PAM is an author of a number of references cited in this monograph.
- Fetal hydantoin syndrome
- Fetal valproate syndrome
- Toluene embryopathy
- Children and young people exposed prenatally to alcohol: a national clinical guideline
- Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan
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