By Dr Christopher Steer, Retired Consultant Paediatrician and SHAAP Steering Group Member.

In this blog post, Dr Christopher Steer looks at the history of Fetal Alcohol Spectrum Disorder, how the diagnosis has progressed beyond the physical characteristics of the individual and highlights the importance of raising awareness, providing support and offering training in the future.

In their Lancet publications during the early seventies, David Smith and Kenneth Lyons Jones first described a small group of children with developmental delay and characteristic physical features, small stature and head size, reduced eye diameters, and poorly formed central facial features. The term “Fetal Alcohol Syndrome” (FAS) entered the medical literature as they linked these observations with toxicity resulting from prenatal alcohol exposure (PAE).

That FAS was a “real” condition was initially greeted with scepticism by their peers, “… if this was a real condition we would have known about it by now…”. However, over the decades since, our understanding and confirmation of this link between PAE and longstanding harm has been confirmed by a multiplicity of clinical studies and by evidence based science, generating an impressive literature and numerous national diagnostic guidelines. It has also become clear that children and young people with those characteristic FAS “sentinel” facial features only represent about ten percent of those harmed by PAE, reflecting alcohol exposure during early pregnancy. Significant damage to the brain and other organ systems can occur at any stage of pregnancy related to the dose, timing, and frequency of alcohol intake, such that the remaining ninety percent of those affected are still very much at risk. Over time, this continuum of observed effects resulted in the clinical description “Fetal Alcohol Spectrum Disorder” (FASD).

This early emphasis on the requirement to identify confirmatory “sentinel” features meant that many clinicians would dismiss any possibility that neurodevelopmental delays could have been caused by PAE should these features be absent. This may still perhaps contribute to present scepticism expressed by some concerning FASD, if an assumption being made is that without the presence of overt physical features a diagnosis is not possible. I clearly recall an experienced colleague, when discussing FASD, commenting “I just don’t see it Chris”. I forwarded on up to date information which I hope helped to provide insight into the sometimes challenging aspects of FASD assessment and diagnosis. Certainly, if sentinel facial features are present, diagnosis is very much more straightforward, and such cases tend to have more marked developmental delays. Those others affected by PAE within the FASD population do however exhibit a wide range of potential developmental problems which can have profound effects on their physical and mental wellbeing.

Child presenting with the three diagnostic facial features of FAS: 1) short palpebral fissure lengths (distance from A to B); 2) smooth philtrum; and 3) thin upper lip. Copyright 2022, Susan Astley Hemingway PhD, University of Washington.

So, in the absence of helpful facial cues the assessment process first needs confirmation of drinking during pregnancy. This can be relatively straightforward for example in the situation where a young mum of a clearly affected wee boy with marked facial features disclosed that she drank two litres of cider every day, mixed with orange juice. When I asked when she realised she was pregnant she replied “When I went into labour, doctor”. More problematic and challenging was the case of another likely diagnosis in an adopted pre-school child where the information was confirmed by feedback from the GP records, and the maternity notes entry listed “overindulges” (although there was no note of any counselling having been given). Also, children and young people who are fostered or adopted are commonly referred for FASD assessment and all too often pivotal information regarding possible PAE is not recorded, or not thought of as being important even when natural parents were known to have quite marked alcohol related use issues.

Having hopefully determined that there was indeed potentially harmful pregnancy alcohol use, and if there are no clear facial clues, what are the next steps? Parents and carers may have expected that the expert clinician will be able to confirm or exclude a diagnosis at a single consultation, “Has my child got it, doctor?” In the absence of clearcut facial features FASD clinicians need to explain that more detailed evaluation is needed and that this may take time.

We are fortunate in having up to date evidence based guidelines which help clinical teams to carry out such assessments and which provide consensus based definitions which relate to the threshold for diagnosis. The Scottish SIGN Guideline 156 (2019), and NICE Quality Standard (2022) are up to date examples. A team of specialists needs to establish in support of the clinician that there are at least three significant impairments involving the following brain “domains”:

• Motor skills
• Brain anatomy/physiology
• Cognitive development
• Language
• Academic achievement
• Memory
• Attention
• ‘Executive function’, impulse control and hyperactivity
• Affect regulation
• Adaptive behaviour, social skills, and social communication

It is far from unusual for more than three brain domains to be affected, a reflection of reduced populations of neurones and poor connectivity between them. Uncovering previously perhaps “hidden” areas of difficulty often assists greatly in interpreting presenting behaviours and learning challenges through the prism of newly identified FASD.

Clearly, a team approach to assessment and diagnosis is very important. So often, in my experience, presenting behavioural and learning difficulties may have been attributed solely to poor bonding, disordered attachment, and adverse childhood experiences. Failing to consider the potential for PAE and subsequent brain effects to help understand and support these vulnerable children and young people can lead to mis-applied and sometimes fruitless interventions. The psychosocial model ignores the potential for a biopsychosocial explanation and potential for early and more effective intervention and support. Similarly, heading into a diagnostic “cul-de-sac” by restricting assessment to a single condition, e.g. Autism Spectrum Disorder or ADHD, and not expanding investigation and enquiry to consider other areas of potential difficulty as components of FASD can represent a serious oversight.

A plea then to pause and consider that assessment for a possible diagnosis of FASD may be needed in situations where presenting difficulties may be explained thereby.  Don’t be put off if someone comments the child doesn’t look “different”! Ask about alcohol use. If concerned, refer. Cross check for facial features but don’t be put off if there are none!

Scotland has an enviable record of progress concerning ongoing FASD awareness raising and clinician support and training funded and supported by government.  However, more progress is needed, particularly with respect to prevention, e.g. an agreement regarding standards of alcohol labelling, and public health initiatives to raise awareness in the general population. Experience gained in the Greater Manchester “Drymester’ public health campaign demonstrates that messaging regarding the need for informed decisions around alcohol use and pregnancy is both effective and positively received. Prevention is vital at a time when SIGN 156 cites a figure of around 170,000 folk with FASD in Scotland. Many undiagnosed during childhood years, let alone as adults.

Professor Sir Al Aynsley Green, ex-BMA President, likened making progress in awareness raising, assessment and management of FASD to the ancient Grecian curse of Hades giving the futile task to Sisyphus, of rolling a huge rock to the top of a hill only for it to roll down again, this to be repeated for eternity. That makes a point: fifty years on from the seminal work of Smith and Jones we can surely make better progress!

Suggested resources and further reading:

https://www.faast.ed.ac.uk - for FASD support and training

https://www.adoptionuk.org/fasd-hub   - for family and carer support

https://www.qnis.org.uk/blog/fasd-is-becoming-more-of-a-concern-for-community-nurses-and-midwives/  - more information, discussion and Blogs from Dr Jonathan Sher and Professor Moira Plant

nhsefs.b2clogin.com – Log in to NES Education. Scotland  Turas E-Learning Resource

https://elearning.rcgp.org.uk/course/info.php?id=483  - E-Learning Resource for General Practitioners

https://nationalfasd.org.uk - National Organisation for FASD

SHAAP Blogposts are published with the permission of the authors. The views expressed are solely the authors' own and do not necessarily represent the views of Scottish Health Action on Alcohol Problems (SHAAP).