In 2019, Scotland became the first country in the UK to publish guidelines on diagnosing fetal alcohol spectrum disorder (FASD). With similar guidelines expected for England and Wales in the coming year, Natalie Davies explores the need for a national steer on FASD.
Fetal alcohol spectrum disorders are lifelong behavioural, cognitive and physical disabilities caused by exposure to alcohol before birth. The true extent of FASD in the UK is unknown due to the complexities of clinical diagnosis, but experts believe that it constitutes a “significant burden” across the population, and is more common than autism spectrum disorder.
A ‘diagnostic deficit’
The only way to guarantee that fetal alcohol spectrum disorders do not occur is for women to abstain from alcohol throughout their pregnancy (from conception to birth). At present, this is far from a realistic prospect in Britain. Alcohol is consumed in an estimated 41% of pregnancies, which puts the UK in the top five countries worldwide for drinking during pregnancy. Reasons include the high number of unplanned pregnancies, and the high level of consumption across the entire population, including women of ‘childbearing age’.
Prenatal alcohol exposure is estimated to have a detrimental effect on 32.4 per 1,000 people in the UK, compared with a worldwide figure of 7.7 per 1,000 people (1 2 3). The considerable gap, however, between the high number predicted to have FASD and the low number that receive a diagnosis, continues to prevent alcohol-related harm in pregnancy being viewed as a public health problem, and continues to limit the ability of families to access the right support.
In January 2019, the Scottish Intercollegiate Guidelines Network (SIGN) published guidelines on “Children and young people exposed prenatally to alcohol” to address the diagnostic deficit. These guidelines have been complemented by a number of diagnostic tools for clinicians, including an FASD assessment form, a diagnostic flow chart, and a neurodevelopmental pathway.
Canadian recommendations in a Scottish context
The Scottish guidelines were largely informed by Canadian guidelines on the diagnosis of FASD, which were perceived to give a more comprehensive and transferable set of recommendations than those from Australia and Germany. Both the Scottish and Canadian guidelines provide evidence-based recommendations on the measurement of alcohol consumption in pregnancy, and – due to “insufficient relevant evidence of adequate quality” – they provide consensus-based recommendations on the remaining issues, for example the identification of children at risk of FASD and criteria for diagnosis.
The Canadian guidelines recommended referral for a possible FASD diagnosis whenever there is suspected or reported prenatal alcohol exposure at levels associated with physical or developmental effects. Despite narrowing the ‘at-risk’ population down from anyone who was exposed to alcohol during pregnancy, to anyone who was exposed to heavy and consistent drinking during pregnancy, there was concern in the Scottish context that this could lead to “unmanageable increases in inappropriate referrals for any woman who has consumed significant amounts of alcohol during pregnancy”. Therefore, the guideline development group amended the recommendation to state that “a referral should not be made in the absence of accompanying physical or developmental concerns in the child or young person”.
‘Diagnoses and descriptors’
There are several known types of FASD, including fetal alcohol syndrome, alcohol-related neurodevelopmental disorder, and alcohol-related birth defects. The Canadian guidelines attempted to simplify the diagnostic process by providing for a diagnosis of ‘FASD with sentinel facial features’ or ‘FASD without sentinel facial features’.
In this area of clinical work, the phrase ‘sentinel facial features’ refers to three distinct facial features, which – when co-occurring – are so strongly associated with a high level of exposure to alcohol during pregnancy, that it is not necessary to confirm prenatal alcohol exposure through other means. However, in most cases (around 90%), people with FASD do not have these kinds of physical identifiers, and moreover, these sentinel facial features can become less apparent over time.
In Scotland, the guideline development group made the decision to use the same terminology as colleagues in Canada, but to apply ‘FASD without sentinel facial features’ as a descriptor rather than a diagnostic term. This means that at least two of the possible outcomes of clinical investigations would be:
- A diagnosis of FASD with sentinel facial features: This may be made if someone has three sentinel facial features and evidence of severe impairment in three or more of the identified neurodevelopmental areas of assessment.
- A descriptor of FASD without sentinel facial features: This may be used with confirmation of prenatal alcohol exposure and evidence of severe impairment in three or more of the identified neurodevelopmental areas of assessment.
Another designation was created for people “at risk for neurodevelopmental disorder and FASD, associated with prenatal alcohol exposure”. This was primarily intended for young people who have confirmed prenatal exposure to alcohol and some indication of neurodevelopmental concerns, but who do not (yet) meet criteria for FASD. Experts understand that some people may have significant impairments that only become apparent when they are older, and in the meantime, the designation of ‘at risk’ may enable them to access services and support, followed by an assessment in the future to confirm or rule out FASD.
Support systems around a child with FASD
At the same time as the guidelines were released, Healthcare Improvement Scotland published a synthesis of qualitative evidence on the experiences of caregivers looking after people with FASD. Several studies highlighted how “a formal diagnosis of FASD can help caregivers to understand children’s unique needs and challenges, and be able to access appropriate support services for their children”.
While there can be negative consequences associated with an FASD diagnosis, including stigma, the synthesis of evidence suggested that “an accurate diagnosis is important for receiving timely support that can help caregivers make positive changes towards managing the effects of FASD and improving the outcomes for their families”.
A range of resources have been developed in Scotland to improve understanding among parents and carers, who are the main advocates for their children. This includes:
- Fetal Alcohol Spectrum Disorder (FASD): A booklet for parents, carers and families of children and young people exposed to alcohol during pregnancy. Published by the Scottish Intercollegiate Guidelines Network (2019).
- Making sense of Fetal Alcohol Spectrum Disorder (FASD): Information for parents and carers. Published by NHS Ayrshire and Arran (publication date unknown).
Insufficient knowledge and awareness of FASD among people working in healthcare, social care, criminal justice and education, may be limiting opportunities for diagnosis, prevention and early intervention. Publications targeted at professionals include the following:
- Children’s Neurodevelopmental Pathway – Practice Framework: A workbook for assessment, diagnosis and planning. Published by the National Autism Implementation Team (2021).
- Understanding Fetal Alcohol Spectrum Disorder (FASD): What Educators need to know: For education staff working with children and young people with FASD. Published by NHS Ayrshire and Arran (2019).
- SIGN156: Children and young people exposed prenatally to alcohol: A national clinical guideline. Published by the Scottish Intercollegiate Guidelines Network (2019).
This article was published as part of The Pregnancy Edit for September 2021. If you are interested in writing a blog or participating in an interview about alcohol-related harm in pregnancy for the SSA website, please contact Natalie Davies at natalie@addiction-ssa.org.
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