GETTY continued to cause differences and discussion within the FASD community , which is unresolved even now .
Different criteria such as the four-digit schedule from the University of Washington , 8 the IOM criteria , 9 DSM V , 10 the Canadian FASD network , 11 Australian guidance , 12 and , most recently , the Scottish Intercollegiate Guidance Network ( SIGN ) review in 2019 13 have all established sets of criteria .
These differences have led some to question the diagnosis . However , it is important to note that there is broad agreement between all groups as to the core components of the presentation . It is the sensitivity and specificity of the cut-offs that continues to be debated . The threshold at which a disorder is labelled remains the core of ongoing debate . Since the Scottish government sponsored review and the SIGN 156 guidance document were created , the National Institute for Health and Care Excellence in England has adopted these recommendations as a whole and therefore going forward , 14 SIGN guidance will be the approach taken . Therefore , diagnostic criteria in the UK are FASD with or without sentinel features .
If clinicians are focused primarily on the dysmorphic features , it is unlikely that most cases will be identified . The wider prevalence of those who have prenatal alcohol and significant cognitive demands , that is , FASD without dysmorphic symptoms , is relatively common .
Primary features and disabilities The most recognisable features , as highlighted , are those that are physical . It is the invisible , however , that cause the greatest impact for the individual . It is the underlying damage to the neurological pathways that have the greatest impact on the individual ’ s ability to live a relatively normal life . Due to alcohol having numerous mechanistic and pathological effects , there is great variability between individuals , yet a characteristic profile can be seen . 2
Neurologically , alcohol is known to cause damage to central brain structures which particularly have white matter involvement . For example , the corpus callosum , the white matter tract that connects the two hemispheres , is known to show deficits and impacts on left and right brain connectivity . Other central structures such as the hippocampus , amygdala , orbitofrontal cortex , cerebellum and interconnected structures are also known to be affected . This means that deficits in executive function , emotional regulation , social communication , memory and neural processing speed can be present . 15
Furthermore , evidence would suggest that damage can be seen at a cellular level . One such example is that neural migration can be affected to the point that cells appear in the wrong position within the brain . This can lead to inefficient processing and greater effort to complete a task compared with non-affected individuals . 15
Research evidence would suggest that due to the relative preservation of some areas of function , the impact of the prenatal alcohol and FASD can go unnoticed until challenges are presented . For example , there is a difference between emotional regulated situations and how the individual functions . This can be defined as hot and cold executive function problems . In essence , this means in a clinic setting where the individual has no emotional or external distractions , function can appear to be better than in scenarios where these wider effects are impinged upon , leading to a lower ability to complete tasks . 16 It is important therefore that these are considered during clinical testing . Real-world function is as important as observation in order to understand the impact on the individual as well as their ongoing support needs .
Associated with these presentations are wider neurodevelopmental comorbidities . Because essentially this is a neurological condition affecting pathways that are affected in other diagnoses , such as autism and ADHD , these are conditions that are common comorbidities . The nature and degree of the neurological damage will define whether these conditions are also seen . In a general population study , the rates are variable . Yet , increasing evidence points towards those with the most severe presentations , also having the most affected neurological function and the greatest long-term issues . 17 This also impacts on an understanding of the therapeutic interventions that can be directed to support these individuals
Importance of multidisciplinary assessment Because the neurological deficits seen with FASD are extensive , they cover broad areas . These include cognition , sensory processing , neurological deficits , communication and language , education , and adaptive behaviour . These therefore can be evaluated most easily if the assessment is completed by a multidisciplinary team ( MDT ). 13 When considering the need to take account of the physical as well as the psychological features , teams can comprise a physician familiar with FASD and other associated conditions alongside psychologists , speech and language therapists and occupational therapists . 13 Unfortunately , these professionals are not always available in many clinical practices .
Different availabilities of service provision and differing pathways offer different challenges . While an MDT may be gold standard , in the NHS at least , gold standard is not always possible . In some cases , approaches might need to be taken whereby one individual can collate a multidisciplinary assessment undertaken by differing professionals .
There are various ways of doing this . Genetic testing , for example , is an important exclusion factor in diagnosing FASD . Genetic conditions make up the most common presentation for neurodevelopmental problems and must therefore be ruled out . 18 A geneticist can also
What remains vital is not just the diagnosis , but also an understanding of an individual ’ s function and then subsequently what interventions can be offered identify dysmorphology and other possible physical manifestations .
There are questionnaires to assess communication , executive function , memory , adaptive behaviour as well as sensory and motor functioning . These can be used by individual clinicians to give indications of levels of deficit , without the need for multi-professional involvement , in less complex cases at least .
Evidence would suggest that these tests do not consider the same things as direct assessment 19 but can be used to adequately provide insights into underlying function to support diagnostic processes .
Therefore , while all the criteria suggest an MDT is preferable , it is feasible for a single individual to pull together information from multidisciplinary sources . This is akin to general physicians using haematology , radiology and other pathological samples to come to a diagnostic conclusion alongside their own history and examination . This would allow more straightforward cases to be held locally by single practitioner , leaving the more complex cases for the more expensive and less available MDT . Here , where direct observation by a trained specialist , alongside these psychological measures become vital , the MDT is most
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