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, behavioural, learning, and mental health problems.
Fetal alcohol spectrum disorders (FASDs) refers to a group of conditions that may result from fetal exposure to alcohol. Disorders include fetal alcohol syndrome (FAS), partial FAS, alcohol-related neurodevelopmental disorder, and alcohol-related birth defects. FAS is characterised by antenatal and postnatal growth retardation, specific facial dysmorphology, and structural and/or functional abnormalities of the central nervous system. This monograph primarily addresses FASDs in children.
History and exam
Key diagnostic factors
- presence of risk factors
- gestation <37 weeks
- low height, weight, head circumference
- characteristic facial dysmorphology
- presence of birth defects
- developmental delay and behavioural 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
- antenatal 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
- Fetal hydantoin syndrome
- Fetal valproate syndrome
- Toluene embryopathy
- Children and young people exposed prenatally to alcohol: a national clinical guideline
- Report to the Australian Government Department of Health: Australian guide to the diagnosis of fetal alcohol spectrum disorder
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