A diagnosis of FASD requires evidence of prenatal alcohol exposure and severe impairment in three or more domains of central nervous system structure or function.

A diagnosis of FASD can be divided into one of two sub-categories:

1. FASD with three sentinel facial features
2. FASD with less than three sentinel facial features

FASD with three sentinel facial features replaces the diagnosis of Fetal Alcohol Syndrome, but without a requirement for growth impairment. FASD with less than three sentinel facial features encompasses the previous categories of Partial Fetal Alcohol Syndrome and Neurodevelopmental Disorder-Alcohol Exposed).

The aetiological role of alcohol is most clearly established in the presence of all three characteristic facial abnormalities. In this situation a diagnosis of FASD with three sentinel facial features can be made even when prenatal alcohol exposure is unknown, provided there is also severe neurodevelopmental impairment.

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Table 1: Diagnostic criteria and categories
Figure 1: Diagnostic algorithm

The timing, frequency and quantity of prenatal alcohol exposure are linked to the pattern and severity of fetal outcomes. Brain growth and development occur throughout pregnancy hence adverse cognitive, behavioural and neurodevelopmental outcomes may result from exposure at any time during pregnancy, and may occur in the absence of facial anomalies or structural central nervous system abnormalities.

When detailed information on maternal alcohol use is available, consumption during pregnancy should be assessed using the AUDIT-C questions, which provide a standardised method for assessment of maternal alcohol use and are based on a validated sex-specific version of the instrument.

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Section A: Assessing maternal alcohol use

Table 2: Alcohol Use Disorders Identification Test – Consumption (AUDIT-C)

In FASD, 10 domains of neurodevelopment have been identified that reflect areas of brain function known to be affected by prenatal alcohol exposure based on evidence from human and animal research, and clinical experience. The following domains should be assessed as part of the diagnostic evaluation for FASD:

1. Brain structure/Neurology
2. Motor skills
3. Cognition
4. Language
5. Academic achievement
6. Memory
7. Attention
8. Executive function, including impulse control and hyperactivity
9. Affect regulation
10. Adaptive behaviour, social skills or social communication

The clinical cut-off for severe impairment is defined either as a global score, or a major subdomain score on a standardised validated neurodevelopmental scale that is 2 or more standard deviations below the mean (≤2 SD), or less than the 3rd percentile (<3rd PC). Clinical judgement should be used to determine whether severe impairment is present is a range of situations.

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Section B: Assessing neurodevelopmental impairment

Table 3: Neurodevelopmental domains: Criteria for severe impairment 

Fetal exposure to alcohol during the first trimester affects the development of the facial features. The areas most affected are the eyes and midface. The three facial features are:

1. Small palpebral fissures: short horizontal length of the eye opening, defined as the distance from the endocanthion to the exocathanion
2. Smooth philtrum: diminished or absent ridges between the upper lip and nose
3. Thin upper lip: with small volume

Most people with FASD do not have the three sentinel facial features.

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Section C: Assessing sentinel facial features

Growth assessment is an important aspect of any paediatric examination and impairment may reflect a teratogenic insult, genetic or other prenatal or postnatal factors. However, growth impairment is no longer considered diagnostic of FASD due to the range of factors which can influence growth in an individual in combination with prenatal alcohol exposure. Recent evidence and clinical experience suggest that growth impairment is neither sensitive nor sufficiently specific to indicate a FASD diagnosis.

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Section D: Growth assessment

Information collected during the diagnostic assessment should be reviewed, ideally in a multi-disciplinary team context, to evaluate the strength of evidence to:

• support a diagnosis of FASD with 3 sentinel facial features or a diagnosis of FASD with less than 3 sentinel facial features; or
• consider whether the individual is at risk of FASD, requiring reassessment and/or further investigation; or
• exclude other causes of conditions; and/or
• assess the potential influence of other exposures and events

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Section E: Formulating a diagnosis

Information on co-existing conditions or other syndromes can be found in Appendix D of the Australian Guide to the diagnosis of FASD.

The FASD Diagnostic Assessment Form (Appendix A1) and the Summary Form (Appendix A2) summarise the clinical findings required to make a diagnosis of FASD.

After the diagnostic assessment, irrespective of the diagnosis, it is recommended that the health professional/s coordinating the diagnostic process:

• discuss with the individual/parents/caregivers the outcome of the assessments
• discuss the diagnosis and develop a management plan, incorporating parent/caregiver and patient goals, referrals, management strategies and review dates
• provide the individual/parents/caregivers with a written report
• discuss how this information may be important to share with relevant service providers

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Section F: Discussing the diagnosis and developing a management plan

Appendix A3: Australian FASD Management Plan Form

Appendix A6: Information for clinicians: Issues that individuals and their caregivers may experience during the FASD assessment process

Appendix A8: Information and resources for clinicians after a diagnostic assessment

Section G: Reporting a FASD diagnosis

Appendix A1: Australian FASD Diagnostic Assessment Form

Appendix A1: Australian FASD Diagnostic Assessment Fillable Form

Appendix A2: Australian FASD Diagnostic Assessment Summary Form

Appendix A2: Australian FASD Diagnostic Assessment Summary Form (Fillable)

Appendix A3: Australian FASD Management Plan

Appendix A3: Australian FASD Management Plan (Fillable Form)

Appendix A5: Australian FASD Diagnostic Assessment Consent Form (this form includes 2 options)

1. Consent form for parent/caregiver of person under 18 years
2. Consent form for individual capable of giving consent themselves (eg older adolescents and adults)

Appendix A5: Australian FASD Diagnostic Assessment Consent Form (Fillable)

Appendix A9: Referral and screening guidelines

Appendix B: Standard drink sizes for commonly consumed drinks

Appendix C: Assessment of Sentinel Facial Features

Appendix D: Syndromes with constellations of features which overlap with FASD

Appendix A4: Information on FASD diagnostic assessment for individuals and caregivers

Appendix A6: Information for Clinicians: Issues that individuals and their caregivers may experience during the FASD diagnostic assessment process

Appendix A7: Information for individuals and caregivers after diagnostic assessment

Appendix A8: Information and resources for clinicians after diagnostic assessment

This research was conducted by the Australian FASD Collaboration.

Lead Investigators

• Winthrop Research Professor Carol Bower, Telethon Kids Institute, The University of Western Australia
• Professor Elizabeth Elliott AM, University of Sydney and the Children’s Hospital at Westmead

Senior Consultants

• Dr Lucinda Burns, Nationa Drug and Alcohol Research Centre, University of NSW
• Ms Maureen Carter, Nindilingarri Cultural Health Services, Fitzroy Crossing WA
• Ms Heather D’Antoine, Menzies School of Health Research, Charles Darwin University
• Dr James Fitzpatrick, The George Institute for Global Health, University of Sydney
• Assoc Prof Jane Halliday, Murdoch Childrens Research Institute, University of Melbourne
• Ms Lorian Hayes, Centre for Chronic Disease, University of Queensland
• Assoc Prof Jane Latimer, George Institute for Global Health, University of Sydney
• Ms Anne Mckenzie, Telethon Kids Institute and School of Population Health, The University of Western Australia
• Ms Sue Miers AM, National Organisation for Fetal Alcohol Spectrum Disorders Australia
• Dr Raewyn Mutch, Telethon Kids Institute , The University of Western Australia and Child and Adolescent Health Service WA Department of Health
• Dr Colleen O’Leary, Centre for Population Health Research Curtin University and Telethon Kids Institute
• Dr Jan Payne, Telethon Kids Institute , The University of Western Australia
• Dr Elizabeth Peadon, Children’s Hospital at Westmead
• Ms Anne Russell, Russell Family Fetal Alcohol Disorders Association
• Dr Amanda Wilkins, Telethon Kids Institute, The University of Western Australia and Child and Adolescent Health Service WA Department of Health

Project Team

• Ms Heather Jones, Telethon Kids Institute, The University of Western Australia
• Dr Rochelle Watkins, Telethon Kids Institute, The University of Western Australia

Researchers

• Professor Carol Bower, Principal Senior Research Fellow Telethon Kids Institute
• Professor Elizabeth Elliott, Professor in Paediatrics and Child Health University of Sydney
• Dr Rochelle Watkins, Senior Research Fellow Telethon Kids Institute

National Steering Group

• Professor Carol Bower (Chair): Principal Senior Research Fellow Telethon Kids Institute
• Mr Scott Avery: Director Policy and Research First Peoples Disability Network
• Dr Felicity Collins: Head Department of Clinical Genetics Sydney Children’s Hospital Network (Westmead)
• Dr Jennifer Delima: Director Addiction and Clinical Forensic Medicine Alcie Springs Hospital
• Professor Elizabeth Elliott: Paediatrician Sydney Children’s Hospital Network (Westmead) and Professor in Paediatrics and Child Health
• Dr James Fitzpatrick*: Paediatrician and McCusker Clinical Research Fellow Telethon Kids Institute
• Ms Andrea Lammel: Brain Mind Research Institute Faculty of Health University of Sydney
• Ms Vicki Russell*: Chief Executive Officer National Organisation for Fetal Alcohol Spectrum Disorders Australia
• Dr Doug Shelton*: Paediatrician, Clinical Director Community Child Health and Medical Director Children’s Services
• Dr Linda So: Paediatrician Representative Royal Australian College of Physicians
• Dr David Thomas: Paediatrician Representative Royal Australian College of Physicians
• Dr Amanda Wilkins*: Paediatrician WA Child Development Service and Honorary Clinical Research Fellow Telethon Kids Institute
• Dr Marcel Zimmet: Paediatrician, Sydney Children’s Hospital Network (Westmead)

* Also member of the Expert Review Panel

Expert Review Panel

An Expert Review Panel was formed to provide specific expertise on diagnosis.

• Professor Elizabeth Elliott (Chair): Sydney Children’s Hospital Network (Westmead) and Professor in Paediatrics and Child Health
• Dr Marcel Zimmet: Paediatrician, Sydney Children’s Hospital Network (Westmead)
• Professor Carol Bower: Principal Senior Research Fellow Telethon Kids Institute
• Dr James Fitzpatrick: Paediatrician and McCusker Clinical Research Fellow Telethon Kids Institute
• Dr Amanda Wilkins: Paediatrician WA Child Development Service and Honorary Clinical Research Fellow Telethon Kids Institute
• Dr Doug Shelton: Paediatrician, Clinical Director Community Child Health and Medical Director Children’s Services
• Ms Vicki Russell: Chief Executive Officer, National Organisation for Fetal Alcohol Spectrum Disorders Australia

Project staff

• Ms Juanita Doorey