Diagnostic assessment
Diagnosis of fetal alcohol spectrum disorder (FASD) usually involves a multidisciplinary approach (eg general practitioner [GP], paediatrician or physician, allied and mental health professionals). GPs have a role in clinical assessment (eg obtaining prenatal alcohol exposure history, developmental monitoring, physical assessment) and providing ongoing care and coordination for further clinical assessment; see also Facilitating a multidisciplinary approach to care of people with developmental disability.
Before assessment, obtain consent from the person or their support or substitute decision maker; see Consent, capacity and decision making in people with developmental disability. The Australian guide to the diagnosis of fetal alcohol spectrum disorder includes an example consent form (see Appendix A5).
Diagnosis of fetal alcohol spectrum disorder is standardised in Australia, with the specific criteria outlined in the Australian guide to the diagnosis of fetal alcohol spectrum disorder. These criteria have evolved to reflect the broader spectrum of prenatal alcohol effects and include individuals who have brain injury effects without physical features.
Diagnostic criteria for fetal alcohol spectrum disorder in Australia comprise:
- confirmation of prenatal alcohol exposure (PAE)
- neurodevelopmental impairment (severe in 3 or more domains of functioning)
- sentinel facial features (ie those with 3 and those with less than 3 features).
Clinical assessments that may be undertaken in general practice are outlined in Clinical assessment for fetal alcohol spectrum disorder by a GP.
History
maternal alcohol and other substance use before, during and after pregnancy; if there is no confirmed prenatal alcohol exposure, fetal alcohol spectrum disorder is less likely but still possible
developmental history; see Assessing developmental delay and disability
other prenatal and postnatal developmental risk factors (eg family stress, early life trauma, pregnancy complications or medications such as antiepileptics or psychotropic drugs)
family history (eg genetic conditions, intergenerational trauma or alcohol use problems)
Examination
head circumference—to identify if less than 3rd percentile; record on a head circumference-for-age chart [NB1]
height and weight—to identify if less than 3rd percentile; record on a growth percentile chart and use the same chart each time
sentinel facial features—using Australian guide to the diagnosis of fetal alcohol spectrum disorder [NB2]
other morphological features
Investigations
hearing—refer for audiology as indicated
vision—refer for optometry testing as indicated
blood tests—to exclude factors predisposing to or causing neurodevelopmental problems (eg iron deficiency, thyroid problems, genetic conditions, serum creatine kinase concentration, lead toxicity) [NB3]
Developmental and functional assessment
identify strengths (eg neurodevelopmental skills, knowledge, recent achievements)
identify difficulties and impairments, and impact on functioning in home, community, school or vocational settings
identify current supports (professional, family, interpersonal, community), interventions and opportunities
BMI = body mass index; GP = general practitioner
NB1: For head circumference charts for older children and adolescents, see Rollins JD, Collins JS, Holden KR. United States head circumference growth reference charts: birth to 21 years. J Pediatr 2010;156(6):907-13 e2. [URL]
NB2: Consent to assess for specific fetal alcohol spectrum disorder facial features is recommended; this may include taking a clinical photo.
NB3: Investigations may be done in liaison with a specialist (eg paediatrician, clinical geneticist).
Other investigations (eg brain imaging, electroencephalogram [EEG]) may be ordered by the GP or specialist if clinically indicated as part of the diagnostic process, and depending on individual expertise and access to specialist practitioners and facilities; for more information, see Assessing developmental delay and disability.