Guidelines

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

Jocelynn L. Cook, Courtney R. Green, Christine M. Lilley, Sally M. Anderson, Mary Ellen Baldwin, Albert E. Chudley, Julianne L. Conry, Nicole LeBlanc, Christine A. Loock, Jan Lutke, Bernadene F. Mallon, Audrey A. McFarlane, Valerie K. Temple and Ted Rosales; for the Canada Fetal Alcohol Spectrum Disorder Research Network
CMAJ February 16, 2016 188 (3) 191-197; DOI: https://doi.org/10.1503/cmaj.141593

Article Figures & Tables

Figures

  • Figure 1:
    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.

Tables

  • Table 1:

    Recommendations for the diagnosis of fetal alcohol spectrum disorder (FASD)*

    RecommendationStrength of recommendation†Quality of evidence†
    1.0Screening, referral and support
    1.1All pregnant and postpartum women should be screened for alcohol use with validated measurement tools by service providers who have received appropriate training in their use.10 Women at risk of heavy alcohol use should receive early, brief interventions (i.e., counselling and/or other services).StrongHigh
    1.2Referral of individuals for a possible FASD diagnosis should be made whenever there is evidence of, or suspected prenatal alcohol exposure at levels associated with, physical or developmental effects.StrongModerate
    1.3Abstinence from alcohol should be recommended to all women during pregnancy to ensure the safest outcome for the fetus, and appropriate support should be provided, as indicated.StrongHigh
    2.0Medical assessment‡
    2.1The diagnostic process should include compiling a social and medical history and complete physical examination.StrongHigh
    2.2Confirmation of prenatal alcohol exposure requires documentation that the biological mother consumed alcohol during the index pregnancy based on: reliable clinical observation; self-report; reports by a reliable source; medical records documenting positive blood alcohol concentrations; alcohol treatment; or other social, legal or medical problems related to drinking during the pregnancy. The presence of all three facial features has such high specificity to alcohol exposure and FASD that confirmation of alcohol exposure is not required.11 The presence of fewer than three facial features does not have the same degree of specificity and therefore requires other confirmation.StrongModerate
    3.0Sentinel facial features
    3.1The following three sentinel facial features must be present because of their specificity to prenatal alcohol exposure:

    • Palpebral fissure length ≥ 2 SDs below the mean (< third percentile).

    • Philtrum rated 4 or 5 on 5-point scale of the University of Washington Lip–Philtrum Guide.12

    • Upper lip rated 4 or 5 on 5-point scale of the University of Washington Lip–Philtrum Guide.12

    		StrongHigh
    4.0Neurodevelopmental assessment
    4.1A diagnosis of FASD is made only when there is evidence of pervasive brain dysfunction, which is defined by severe impairment in three of more of the following neurodevelopmental domains: motor skills; neuroanatomy/neurophysiology; cognition; language; academic achievement; memory; attention; executive function, including impulse control and hyperactivity; affect regulation; and adaptive behaviour, social skills or social communication.StrongHigh
    4.2Severe impairment is defined as a global score or a major subdomain score on a standardized neurodevelopmental measure that is ≥ 2 SDs below the mean, with appropriate allowance for test error. In some domains, large discrepancies among subdomain scores may be considered when a difference of this size occurs with a very low base rate in the population (≤ 3% of the population). Clinical assessment with converging evidence from multiple sources and DSM-V diagnostic criteria13 for certain disorders may also be considered in specific domains that are not easily assessed by standardized tests. For example, in the affect regulation domain, the following diagnoses may be taken as an indication of severe impairment: major depressive disorder (with recurrent episodes), persistent depressive disorder, disruptive mood dysregulation disorder, separation anxiety disorder, selective mutism, social anxiety disorder, panic disorder, agoraphobia or generalized anxiety disorder). A domain-by-domain discussion of how these criteria are operationalized is outlined in Appendix 1 (available at www.cmaj.ca/lookup/suppl/doi:10.1503/cmaj.141593/-/DC1).StrongModerate
    5.0Nomenclature and diagnostic criteria
    5.1A diagnosis of FASD may be made if an individual meets either of the two sets of criteria below:
    5.1.1 FASD with sentinel facial features

    • Simultaneous presentation of the three sentinel facial features (see section 3.0); AND

    • Prenatal alcohol exposure confirmed or unknown; AND

    • Evidence of impairment in three or more of the identified neurodevelopmental domains (see section 4.0) or, in infants and young children, evidence of microcephaly.

    OR
    5.1.2 FASD without sentinel facial features

    • Evidence of impairment in three or more of the identified neurodevelopmental domains (see section 4.0); AND

    • Confirmation of prenatal alcohol exposure, with the estimated dose at a level known to be associated with neurodevelopmental effects.

    		StrongHigh
    5.2At risk for neurodevelopmental disorder and FASD, associated with prenatal alcohol exposure
    5.2.1 This is not a diagnosis; this is a designation that should be given to individuals when:

    • There is confirmation of prenatal alcohol exposure, with the estimated dose at a level known to be associated with neurodevelopmental effects;

    • Central nervous system criteria from 5.1.1 and 5.1.2 are not met;

    • There is some indication of neurodevelopmental disorder in combination with a plausible explanation as to why the neurodevelopmental assessment results failed to meet the criteria for substantial impairment (e.g., patient was too young; incomplete assessment).

    5.2.2 This designation may also be considered for individuals with all three sentinel facial features as described in 5.1.1 who do not yet have documentation or evidence of the requisite three or more neurodevelopmental domain criteria or true microcephaly. This designation should never be considered when prenatal alcohol exposure is confirmed absent.
    6.0The diagnostic team
    6.1Core team members across the lifespan:
    For infants (< 18 mo)

    • Pediatrician/physician

    • Child development specialist who has the skill set to conduct physical and functional assessments (e.g., speech-language pathologist, physiotherapist, occupational therapist, clinical psychologist)

    For preschoolers (18 mo–5 yr)

    • Pediatrician/physician

    • Occupational therapist

    • Speech-language pathologist

    • Psychologist

    For school-aged children (6 yr–age of majority)

    • Pediatrician/physician with expertise in FASD and differential diagnosis

    • Occupational therapist

    • Speech-language pathologist

    • Psychologist

    For adults

    • Physician

    • Psychologist

    • Speech-language pathologist/psychologist with expertise in language assessment

    		StrongHigh
    7.0Special considerations in neurodevelopmental assessment of infants and young children
    7.1Infants and young children with all three sentinel facial features and microcephaly should be given a diagnosis of “FASD with sentinel facial features”; these children have a high risk of neurodevelopmental disorder.11,14 They should also be referred to a clinical geneticist.StrongHigh
    7.2Infants and young children with all three facial features may be given a diagnosis of “FASD with sentinel facial features” if they undergo a comprehensive neurodevelopmental assessment and show deficits in three or more brain domains. Infants and young children with confirmed prenatal alcohol exposure may be given a diagnosis of “FASD without sentinel facial features” if they undergo a comprehensive neurodevelopmental assessment and show deficits in three or more brain domains.StrongModerate
    7.3Infants and young children with confirmed prenatal alcohol exposure but who do not meet the criteria for FASD should be designated as “At risk for neurodevelopmental disorder and FASD, associated with prenatal alcohol exposure.” Those with all three facial features but no microcephaly should be referred to clinical genetics.StrongHigh
    7.4A complete neurodevelopmental assessment should be recommended at an age-appropriate time for all infants and young children with confirmed prenatal alcohol exposure and/or all three facial features.StrongHigh
    8.0Special considerations in neurodevelopmental assessment of adolescents and adults
    8.1Recommendations following the assessment must address basic and immediate needs of the client, and assist them in accessing required resources.StrongModerate
    9.0Management and follow-up
    9.1Individuals with FASD and their caregivers should be linked to resources that can improve outcomes. However, just because availability of services is limited, an individual should not be denied an assessment and management plan. Often the diagnosis is the impetus that leads to the development of resources.StrongLow
    9.2When young adults are transitioning to independent living situations, it may require that they undergo a reassessment to identify changes in their adaptive function and to make subsequent adjustments to their management plan.StrongLow

    • Note: DSM-V = Diagnostic and Statistical Manual of Mental Disorders. Fifth Edition; SD = standard deviation.

    • ↵* Appendix 1 provides details of the evidence underpinning these recommendations.

    • ↵† Using GRADE.7–9 See Box 1 for definitions.

    • ↵‡ Includes family history, maternal alcohol history, physical examination and differential diagnosis.

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Canadian Medical Association Journal: 188 (3)
CMAJ
Vol. 188, Issue 3
16 Feb 2016

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Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan
Jocelynn L. Cook, Courtney R. Green, Christine M. Lilley, Sally M. Anderson, Mary Ellen Baldwin, Albert E. Chudley, Julianne L. Conry, Nicole LeBlanc, Christine A. Loock, Jan Lutke, Bernadene F. Mallon, Audrey A. McFarlane, Valerie K. Temple, Ted Rosales
CMAJ Feb 2016, 188 (3) 191-197; DOI: 10.1503/cmaj.141593
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