Greater Clarity Around Diagnosis of Foetal Alcohol Syndrome Needed

Becky McCall

June 18, 2021

Formal diagnosis of foetal alcohol syndrome (FAS) is rarely made by UK paediatricians - possibly reflecting a lack of confidence in making the diagnosis - limiting treatment and better outcomes for these children, shows a study presented at this week’s conference of the Royal College of Paediatrics and Child Health (RCPCH).

Presenting the findings was lead researcher and paediatric registrar, Dr Charlotte Burleigh, Bradford Teaching Hospitals NHS Trust. "Studies have found that FAS is under-reported and under-recognised," she summarised.

More clarity around diagnosis is needed. "Diagnostic pathways seem to be the way forward to aid early intervention for this vulnerable group of young people," said Dr Burleigh. "Our data show high levels of microcephaly and neuro-behavioural diagnoses in these children, and genetic diagnoses [for alternative explanations] were low," said Dr Burleigh. "In addition, we were also concerned about access to specialist services," she emphasised.

But despite recognising the need to improve diagnosis of FAS, Dr Patricia Jackson, honorary fellow at the University of Edinburgh Department of Child Life and Health, who was asked to comment on the study, drew attention to a wider unmet need, that is, "to recognise the much more prevalent and equally preventable broader diagnosis of those affected with Foetal Alcohol Spectrum Disorder (FASD)". FAS sits on this spectrum.

But she added that, "it is always useful to have more information about this important topic of children affected prenatally by alcohol exposure, especially since alcohol, as a cause of neurodevelopmental disorder, is preventable.

"Clinicians in the UK should be aware of the importance of a reliable maternal alcohol history, the neurodevelopmental assessment, and the much lesser importance of facial features in making the diagnosis of the more prevalent FASD," Dr Jackson explained.

Dr Jackson was chair of the SIGN (Scottish Intercollegiate Guideline Network) committee that formulated the Scottish evidence-based guideline on FASD in 2019 (SIGN 156 document) that aims to raise confidence in diagnosis. She stressed that, "these children were being ‘missed’ because there was so much emphasis in paediatricians’ minds on the need to confirm the presence of growth limitation, and diagnostic facial features needed to make the diagnosis of FAS," she told Medscape News UK.  

Standards from the National Institute for Health and Care Excellence (NICE) are also expected soon but have been delayed due to the pandemic. "The SIGN 156 document, which has now been adopted as the evidence base for the awaited NICE standards, gives a clear diagnostic pathway for clinicians working within a multidisciplinary team to be confident to make the diagnosis of FASD."

Lifelong Consequences: With Mental Health, Drug/Alcohol, Criminal Justice System

Foetal Alcohol Syndrome (FAS) is complex, with consequences for a child’s physical health, behaviour, and neurodevelopment. "FAS is one of the rare preventable causes of developmental impairment," Dr Burleigh said, adding that, "the consequences of FAS are lifelong including increased risk of mental health problems, drug and alcohol issues, poorer educational attainment and a greater chance of involvement with the criminal justice system."

She pointed out that many of these risks can be mitigated if children receive early childhood interventions, for example, parent training and specific psychological interventions.

Jonathan Sher, PhD, is senior fellow & programme lead, Healthier Pregnancies, Better Lives at the Queen’s Nursing Institute Scotland. He also commented on the study for Medscape News UK. Although this study specifically looked at FAS, which represents the most visible end of the range of Foetal Alcohol Spectrum Disorders (FASD), his concerns include the much larger number of children, young people and adults living with FASD. "The physical and facial aspects of FAS only apply to about 10% of people affected by FASD. However, 100% of the people on this spectrum have brains affected by this life-long, life-changing neurodevelopmental condition, which is largely preventable, but so often not prevented.

"FASD is the most common learning disability. And yet, despite a huge, established international evidence base, FASD is also the least understood, least diagnosed, and least well-addressed neurodevelopmental condition in the UK. While progress is being made, it is not remotely rapid or robust enough to meet the need," Sher added.

Dr Jackson pointed out that a similar study to the one by Dr Burleigh, conducted in Scotland in 2014, also looking only at FAS, similarly identified poor confidence and under-reporting by clinicians of cases of children affected prenatally by alcohol. This study also highlighted the importance of recognising the much more prevalent and equally preventable broader diagnosis of those affected with FASD, she said.

Survey of UK and Ireland Paediatricians on FAS

The study by Dr Burleigh et al only addressed FAS and not FASD, and aimed to investigate the epidemiology, including demographics and services used to manage FAS in children, between the ages of 0-16 years in the UK and Ireland. The study was conducted using the monthly electronic survey of the British Paediatric Surveillance Unit (BPSU) that reaches 3000 paediatricians.

Given self-reported history of alcohol use is unreliable, it was not used for reporting, and confirmed absence of alcohol use in pregnancy excluded diagnosis. Case definition was based on typical facial features (smooth philtrum, thin upper lip, and short palpebral fissures); poor growth, in utero (<10th centile for age) or ex-utero (post-natal faltering growth) and structural-functional bone abnormalities (head circumference <10th centile and microcephaly with increasing age, abnormal brain scan, developmental delay and abnormal neurological signs).

In total, after exclusions and withdrawals, 38 probable and 10 confirmed cases of FAS were analysed. Most diagnoses were completed at 5-years of age, only four children were still living with their birth mother and there was social care involvement in three of these highlighting the vulnerability of these children. Ethnicity was documented in 37 cases, and 36 of these were White British or Irish. Exposure to opiates was noted in 21% of children and 21% were exposed to at least two substances as well as alcohol, including amphetamines, cannabis, and cocaine.

Facial Features, Growth, Neurocognitive Problems, and Genetics

"Paediatricians seemed to feel more confident in assessing the typical facial features of philtrum and lip assessment that was accurately recorded, and less confident in using palpebral fissure measurement that was either not recorded or inconsistent with FAS in all but one case," remarked Dr Burleigh.

Regarding weight, there was some catch-up weight from birth weight to notification weight, with 80% under the 10th centile for weight at birth reducing to 54% at notification. For length, there were 92% under the 10th centile at birth which reduced to 55% at notification, reported Dr Burleigh. "However, for head circumference, 65% were under the 10th centile at birth although only half of cases were recorded so it’s hard to know how representative this is of the group. At notification this rose to 83%," she pointed out.

A total of 70% of children had at least one neurocognitive diagnosis with attention deficit hyperactivity disorder (ADHD) being most common. Dr Burleigh added that because children were notified at 5-years of age, this might have been too young to make an assessment and is possibly an underestimate.

"Despite the high number of neurocognitive diagnoses, we were surprised that only 17% had documented input from specialist psychologists which might be due to lack of documentation or true lack of input from these services."

In terms of genetics, 38 children underwent genetic investigations to check for other causes for their conditions but only one had a definite genetic diagnosis.

Regarding the future, "we recognise that FAS is the tip of the iceberg in terms of conditions associated with foetal alcohol exposure and FASD surveillance is where we are next headed," said Dr Burleigh. "Public Health England are interested in this." 

Presented at Royal College of Paediatrics and Child Health annual conference, June 15-17, 2021. Abstract 752.  

COI: Dr Burleigh, Dr Sher, and Dr Jackson have declared no relevant conflicts of interest

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