The start of a journey
It has been 15 years now that I have been working within the field of specialist diagnosis and behavioural management of individuals with FASD. At this point in my journey, as well as the journey of FASD diagnostic services in the UK, it felt like a good time to step sideways and reflect on how far we had come and where we still have yet to go. Whilst it feels like a long time, it also feels like no time at all.
The journey began at the time where, if I am honest, I should not have been in the situation to be the expert. In fact, at that time I was still learning. Now I feel I have enough knowledge and experience to call myself an expert. Back then, it was a very steep learning curve. I was fortunate to have good support in Baroness Hollins and Professor Turk, as well as international recognised FASD experts, such as Professor Ed Riley to turn to for help.
In 2003 there were no specialist diagnostic services in the UK. I was not made aware of any UK practitioner demonstrating any real specialist interest in both recognising the disorder and its subtleties. Despite this, it was important to begin to understand how to move the subject area forward, so that individuals and their families could obtain the help they needed. At that time, many just simply fell through service gaps. Also back then, the relationship between FASD and wider neurodevelopmental disorders was unclear. To some extent it remains so today. However, due to the difficulties associated with understanding, differentiating and finally delineating how the effects of prenatal alcohol are separated out from other presentations, meant that it appeared many just simply seemed to avoid the subject rather than face it head on. You could argue that I was just too naive back then to realise some of the complexities and therefore jumped in with both feet without realising what I had gotten myself into. Having said that, 15 years later, it is clear that progress has been made and is a decision I have no regrets about.
Changing patterns of recognition
Back in 2003, work in FASD remained around the most recognised part of the disorder, Fetal Alcohol Syndrome. Increasingly though, it became more prevalent to recognise the wider presentation. For example, the term Fetal Alcohol Spectrum Disorders (FASD) had only been defined a few years earlier in 2000. It was a further 13 years from that date that the term Neurodevelopmental Disorder Associated with Prenatal Alcohol Exposure (ND-PAE) would be developed for DSM V. Even then, only as criterion for further testing. This meant that for many, and especially those who had worked with the condition prior to the turn of the millennium, the focus remained on physical stigmata rather than neurodevelopmental and neurocognitive presentations. It is fortunate therefore, that I started in this field at the time where the momentum in FASD knowledge and research was moving from those people specialising in dysmorphology to psychologists and psychiatrists like myself. The focus at this time shifted to understanding behaviour and cognition. This is particularly important, when considering that the facial characteristics form during a very short timescale in the early part of pregnancy. Therefore the condition was characterised and defined by a short window in the first trimester of pregnancy rather than damage caused in the whole nine-months. Brain development has now been demonstrated to be evident throughout the pregnancy.
This highlights another issue that existed in 2003. Whilst there was an extensive evidence base for alcohol and its effects, the neurocognitive findings remained limited. As mentioned, its relationship to other neurodevelopmental disorders was also limited. Whilst lots of work had been done around the basic profiling of individuals with FASD, there were also many gaps. This was exacerbated by limitations regarding how research had been conducted. This meant that many were sceptical about the relationship described as to where FASD fitted into the bigger neurodevelopmental jigsaw. The last 15 years, to some extent, sought to address and improve this evidence base with more rigorous research methodology and coordinated approaches being undertaken. This was especially the case around the neurocognitive difficulties.
So how have things moved on in the last 15 years due to this growing evidence base? A good example is the change in UK recommendations for alcohol consumption during pregnancy. In 2004, when first beginning to review the existing literature, colleagues and I wrote an editorial highlighting that in our opinion, when interpreting the data of the day, there appeared to be uncertain risks with regards to lower level alcohol exposure. We emphasised that rather than highlighting safe levels, the same data could be interpreted to suggest that some elements of risk may exist, even if only for a few, at that lower level. Because that risk was unpredictable, in keeping with broader general practice in medicine where the balance of risks and benefits could not be individually discussed, we argued that abstinence was the safest course. This was based on a reinterpretation of data rather than basing conclusions on new data.
Over subsequent years, there have been numerous epidemiological studies trying to ascertain safety as well as defining levels of risk. As yet, the data continues to be inconclusive in both directions. Whilst there has been support to suggest for the majority there appears to be little difference at low levels of exposure compared to abstinence, this is different to suggesting there is safe level for all to consume alcohol. Most studies have concluded that the evidence still remains insufficient to be confident that individual safety can be ascertained, only that the risk is low.
For a situation such as pregnancy, where the rights of the individual mothers are balanced against the rights of the fetus, even if during pregnancy the fetus in theory does not have rights, in order to obtain the best outcome, absence has remained the best option. In fact, it has become clear that safety is almost impossible to identify on an individual level. Risk however does seem to correlate better with prevailing evidence. Those people who drink heavily are highly likely to cause damage but that does not occur in all cases. Individuals who reportedly drink at low levels are likely to do limited identifiable harm, if any, for the majority. However, there are still cases reported where low-level exposure appears to have caused neurocognitive, but not physical issues. Studies only looking at physical stigmata will not identify harm at low levels, whereas those looking at cognitive features, more so. As such absence remains the only absolute safe message until individual risk can be identified. The phrase “No alcohol, no risk” has grown in its popularity as a result.
In 2016, based on reinterpretation and growing evidence and a further review of the literature, the Chief Medical Officer changed the UK message for alcohol consumption in pregnancy to abstinence. When considering that a recent systematic review of drinking levels of pregnancy worldwide suggested the UK was the 4th highest consumer of alcohol in pregnancy in the world, this change would seem prudent and timely.
Some groups in the UK continue to emphasise women’s rights to choose, especially in the situation where the risk is uncertain. It is essential however that the public health message has to be safe for all. Whilst all parties would support women making choices, the evidence and current guidance has moved from a position where there was potentially increased risk to some, even if unintentional, to a safe message for all. This also brought the UK more in line with the rest of the world.
During this period the ethics of alcohol consumption in pregnancy has also been debated. Court cases in the UK attempting to gain access to criminal injury compensation for harm caused to affected individuals, led to high profile media interest. Ultimately, the reviews concluded that as harm occurred prenatally, the fetus was not liable in law to compensation. For many this remains contentious.
An overlapping disorder, where does it fit?
Also during this time, there has been increasing work around understanding and delineating how prenatal alcohol and the other associated risk factors can be pulled apart and their individual effects understood. Work undertaken by our clinic has looked specifically at these areas related to neurodevelopmental and neurocognitive overlaps. This work is ongoing.
With our wider interest in ADHD and Autism, ours is one of the few clinics both nationally and internationally to do comprehensive neurocognitive, communicatory, and also neurodevelopmental assessments on all who pass through the clinic. This includes doing a full ADHD and ASD evaluation on everybody presenting to clinic, alongside FASD assessments. Whilst ours is a more complex referral group, the comorbidities found in our population are high. It is unclear whether this is our specific clinic population effect or a general presentation. On some occasions, research projects are designed by those unfamiliar with the clinical presentation or based upon existing literature only. If the questions posed failed to look at the wider associations or comorbid and confounding factors, the collected data may not answer all of the complex questions accurately. It is therefore incumbent on clinics such as ours to report these clinical findings and associations, thus allowing future study to consider wider overlaps, leading to more accurate research data. Only by careful evaluation, often using natural, by chance experiments, can this information be obtained. Systematic, careful collection of information, allowing insights to be gained and hypotheses to be developed, which can be later be tested in more rigorous experimental design is vital.
For example, the most recently published diagnostic manual ICD 11 includes a diagnostic criteria for neurodevelopmental disorder linked to prenatal alcohol exposure however, several neurodevelopmental conditions are considered exclusion factors rather than comorbid presentations. Work we were able to undertake with colleagues in Canada highlighted that in the published literature up to 2014, there were 428 different associated comorbid conditions in people diagnosed with FASD. This would suggest that categorical approaches to phenomenology can be inadequate to explain the relationships between these complex disorders. Rather, the question of how these different presentations and aetiological conditions (such as FASD) relate to the phenomenological outcomes (such as ADHD and ASD), needs to be better answered. Do the neurological overlaps explain why some people present with these comorbid overlapping presentations? The evidence base is missing in these areas and needs further development. There is simply not enough work undertaken in these areas in a systematic approach both nationally and internationally yet to develop this. By having these criteria now established however, will allow refinement take place over the subsequent years in order to prove or disprove the relationship in time for the next iteration. International collaborations such as the CIFASD initiative, funded by the US NIAAA is one way of trying to rectify this.
Changing understanding and growing evidence
An area where this approach is starting to now deliver answers relates to delineating neglect and its effects from prenatal alcohol exposure. DSM V explicitly stated that the diagnosis of neurodevelopmental disorder associated with prenatal alcohol exposure (NDPAE) should not be made if the presentation was better explained by other conditions. The presence of neglect as a comorbid risk factor was one such explicitly mentioned situation. This is a very difficult area to study. By using the systematic approach and a natural experiment methodology however, data from our clinic has been used to generate hypotheses and conduct initial evaluations. Later, more rigorous, scientific methods can then be used to answer some of the subsequent questions that emerge. We recently published clinic data based on a natural experiment of cases attending our service where a significant proportion have a combination of severe neglect and prenatal alcohol exposure whereas a second portion were taken into care immediately from birth and experienced no neglect at all. This allows us to compare groups and apply statistical approaches to examine and delineate the presentation within these groups. This research was suggesting that the prenatal alcohol exposure independently caused neurodevelopmental disorders and that subsequent neglect did not seem to increase the rate of these conditions or make these situations any worse. The study was clearly limited, but did allow funding for a Ph.D. student to be secured. They have been spending the last three years exploring the relationship and as findings begin to be published, the evidence base around this important area will continue to grow. Eventually it will allow the diagnostic criteria to be refined.
During this period, there has also been a growing recognition and interest in the subject of FASD. From the point we published UK data showing both professionals and public had only very superficial knowledge of FASD, there appears to be an increasing recognition that alcohol in pregnancy can do harm. This was highlighted for example by the fact a major Hollywood film, based in the UK, recently included a comment about FASD. Also, in 2013, a consensus meeting of over 70 professionals working in areas related to FASD in the UK came together for a 2 day academic gathering. This was to learn and develop pathways for FASD in the UK. The majority of those involved had links to work with Looked After Children. Subsequent research in this area has identified that this population is specifically at risk. Some studies suggest almost a third of that population may well meet diagnostic criteria for FASD. Whilst direct epidemiological studies have not yet been conducted, partly through a lack of funding, studies that have been undertaken have demonstrated higher than expected rates. Where individuals look only for classical Fetal Alcohol Syndrome, the rates remain low. In our clinic population less than 6% meet criteria for this. The majority, all who come with a strong prenatal alcohol history, meet diagnostic criteria for the wider spectrum of presentation.
This growing interest has led to clinical special-interest sessions by some being held in different parts of the country. This has however, in the main, been led by individuals rather than through a strategic development. More recently however, commissioning groups in some areas have begun considering how to include FASD into the broader neurodevelopmental pathways. Unfortunately this is inconsistent and in many areas the superficial older understanding of FASD remains. For example, anecdotal reports from parents, through failed funding referrals to our clinic, have suggested that some areas refuse to consider funding anything related to FASD, whereas others have embraced the diagnosis. These areas have set up strategies in order to evaluate and accommodate this condition into their service provision. It remains however a postcode lottery impacting therefore on families and those individuals affected. How much families have to fight to get help therefore appears to remain unchanged from when we published to highlight this issue a few years ago.
Only through broader education and inclusion in curriculum of those groups most linked to this subject will things begin to improve. These groups include, but not exclusively so, the GMC for medical school training through to general practice, paediatrics and psychiatry as the main professionals working with this population. Despite our clinic being national and one of the only training opportunities for specialist assessment in the country, we do not have a trainee. Education is focused around core curriculum and without individuals being specifically trained in the subject area either as a special-interest or preferably, as a core part of their curriculum, the future generation of individuals working in the area will not be established. Changes need to occur for this to happen. Royal Colleges will need to embrace the fact that this is a condition that is unlikely to go away and will need individuals to champion its development.
To some extent this has been supported through interested parties in other areas. One such group was the All-Party Parliamentary Group, which established a review in 2015. Whilst progress has been slow, it has been ongoing. Other bodies, such as the BMA Board of Science, have published two reports, first in 2007 and subsequently updated in 2016. This has been a useful resource both in the UK but also internationally. Back in 2003 when I began in this field, none of this existed.
So where has it got to?
So is it a cup half full or half empty? As someone who has been in this area as long as I now have, it feels more like a cup half full. I can see where we have come from but I also see the journey still lies ahead. It may feel overwhelming for people who are new to the field just how much still is not known. Rather than feel intimidated however, it should be seen as an exciting challenge where we have an opportunity to change the picture, develop, and find the evidence either way and therefore improve the quality of lives of individuals affected with this chronic condition.
- BMA BoS. Fetal Alcohol Spectrum Disorders, a guide for healthcare practitioners update. London; 2016 2016.
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- Mukherjee RASC, P,J.,Flemming, K.N., Norgate, S.H.,. What can be done to lessen morbidity associated with fetal alcohol spectrum disorders? Archives of Diseases in Childhood. 2017;102(5):463-7.
This is an independent article and the views are not necessarily those of ACAMH.