Fetal alcohol spectrum disorder (FASD) is considered a spectrum of disorders that includes FASD with and without sentinel facial features, fetal alcohol syndrome, partial fetal alcohol syndrome, alcohol-related neurodevelopmental disorder, and alcohol-related birth defects.
Caused by fetal exposure to alcohol during pregnancy (prenatal alcohol exposure).
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 needs; 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 disorder (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), alcohol-related birth defects (ARBD), and FASD with and without sentinel facial features. FAS is characterized by severe neurodevelopmental impairment, which may be associated with prenatal and postnatal growth retardation, specific facial dysmorphology, and structural abnormalities of the CNS. This topic 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
- Fetal hydantoin syndrome
- Fetal valproate syndrome
- Toluene embryopathy
- Fetal alcohol spectrum disorders
- Children and young people exposed prenatally to alcohol: a national clinical guideline
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