Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan

Scope

Recommendations are focused on the diagnostic process and are geared toward members of multidisciplinary diagnostic teams in Canada, who have received the required expertise and experience through specialized training. Although primary health care providers, who provide antenatal care and counsel individuals considering pregnancy, may also benefit from these recommendations, the diagnostic process should not be performed in isolation; multidisciplinary input is required.

Recommendations

The guideline provides recommendations on the screening, referral and support for pregnant or postpartum women and for individuals at risk of FASD; the medical assessment, including family history, maternal alcohol history, physical examination and differential diagnosis; the sentinel facial features; the neurodevelopmental assessment; the nomenclature and diagnostic criteria; and the diagnostic team and special considerations in the neurodevelopmental assessment of infants and young children.

The recommendations are outlined in Table 1. Details of the evidence underpinning the recommendations can be found in the full-length guideline in Appendix 1. An algorithm for diagnosis is available in Figure 1.

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Figure 1:

Diagnostic algorithm for fetal alcohol spectrum disorder (FASD). *Assessment conclusive = clinician conducting the neurodevelopmental assessment is satisfied that the session was a true representation of the person’s ability and that any deficits reported were not due to extenuating circumstances. Assessments may be inconclusive for children under six years of age, because some domains cannot be assessed with confidence until the person is older or because of other confounding factors, such as temporary life stress or illness; see the text for more information. †Microcephaly is not the only pathway to diagnosis for infants and young children; these individuals may also receive other FASD diagnoses, as specified elsewhere in the algorithm, if they show three areas of substantial impairment on neurodevelopmental tests. ‡At risk for neurodevelopmental disorder and FASD, associated with prenatal alcohol exposure. An at-risk designation includes situations where a full neurodevelopmental assessment is not conclusive because of age or situational factors; therefore, FASD may not be the diagnosis. Clinical judgment is recommended. Note: CNS = central nervous system (yes/no impairment in ≥ 3 brain domains), SFF = sentinel facial features.

Clinicians must consider the issue of differential diagnosis when providing a diagnosis of FASD. Diagnosing FASD is often complex because of the presence of multiple risk factors and negative exposures that are substantial contributors to the patient’s symptoms. No neurodevelopmental deficits are considered pathognomonic for, or specific to, FASD.

Implementation

Training programs are under development across Canada, as are presentations at national and international conferences to disseminate the revised and updated diagnostic guideline. Papers will be drafted focusing on the importance of FASD diagnosis and will be directed to health practitioners and the general public. The committee is also collaborating with professional societies (e.g., the Society of Obstetricians and Gynaecologists of Canada) to develop materials and assessment tools. The guideline will be re-evaluated when substantial new evidence emerges.

Other guidelines

Similar diagnostic approaches have been adopted internationally, but they differ in the specificity of recommendations, criteria and clinical cut-offs.13^,15^–19 Several important differences exist between this guideline and others; however, with the introduction of the new nomenclature, it is difficult to compare them directly. In general, diagnostic guidelines differ on the number of sentinel facial features required to make a diagnosis; the inclusion of growth deficits as a diagnostic criterion; the neurodevelopmental assessment process and criteria; and the approaches and measures used to confirm prenatal alcohol exposure (see Appendix 1 for further discussion). Recent data20 indicate that most Canadian clinics use the 2005 guideline.5 Box 2 outlines the differences between the 2005 guideline5 and this update.

Gaps in knowledge

Despite 40 years of research, there are still gaps in knowledge and evidence related to the diagnosis of FASD. For obvious ethical reasons, it is impossible to perform titrated dose–response studies of prenatal alcohol exposure and subsequent teratogenicity that would undoubtedly provide more definitive answers. Despite this apparent limitation, researchers and clinicians continue to study the effects of prenatal alcohol exposure using different models and methodologies, and evidence continues to emerge that improves the understanding and knowledge base of FASD. For example, diagnostic biomarkers are under investigation, as are additional tools to assess sensory processing and integration dysfunction, and sleep disorders in those with FASD.22 Further research is required to determine the association between prenatal alcohol exposure and other mental health problems. Databases containing diagnostic data need to be analyzed for correlations between sentinel facial features and patterns of neurodevelopmental deficits. Research is ongoing, and their findings may reveal novel approaches that can improve available technologies for screening, diagnosis and management.

Conclusion

It has been well documented that technology and health care costs are rapidly increasing and that health care systems are re-evaluating existing programs to develop more cost-efficient and effective practices and models. We anticipate that these updated evidence-based recommendations for best practices in the diagnosis of FASD will improve the current process and will lead to more efficient and effective care for affected individuals across their lifespan. Although the assessment is meant to provide information about individuals’ strengths as well as their challenges and aims to inform interventions, it is not solely for the purpose of diagnosis.

• Fetal alcohol spectrum disorder (FASD) is a diagnostic term describing the constellation of effects that result from prenatal alcohol exposure.

• Making a diagnosis of FASD requires a multidisciplinary team and involves a complex physical and neurodevelopmental assessment.

• Diagnosis of FASD is critical to improve outcomes for affected individuals and families, and to inform pre-pregnancy counselling to prevent future cases.