It’s time for the government to finally recognise Fetal Alcohol Syndrome Disorder as a disease, experts say
Fetal alcohol syndrome disorder (FASD) must be formally recognised as a disability to stop children and families missing out on much-needed services, medical groups say.
While FASD was thought to be the main driver of preventable birth defects and intellectual disability in the world, the condition remained under diagnosed, the AMA said in its new position statement.
“More must be done,” AMA President Michael Gannon said. “FASD is extremely costly to our health, education and justice systems, yet is potentially preventable.”
As well as implementing a range of public-health initiatives to curb drinking during pregnancy, the AMA is urging clinicians to familiarise themselves with the new Australian Guide to the Diagnosis of FASD.1
This is Australia’s first diagnostic guideline and the authors hope it will simplify and standardise diagnosis of the syndrome across the country.
But more clarity was needed on how children with FASD would be covered under the rollout of the National Disability Insurance Scheme, Professor Elizabeth Elliott, paediatrician and head of Westmead Hospital’s clinic for children with FASD, said.
Currently, while children with fetal alcohol syndrome may have certain impairments that qualify them for services, the condition itself is not on the government’s list of recognised disabilities.
“The important message is that children with fetal alcohol syndrome disorder have a range of functional problems,” Professor Elliott said.
“Some of them may have very low IQ, [but] others may have a normal IQ with other functional impairments like problems with motor skills, problems with speech and language retention and academic achievement. And often those children are quite impaired even if they don’t qualify as intellectually impaired.”
The original diagnosis of fetal alcohol syndrome referred to children with the characteristic facial anomalies and poor prenatal or postnatal growth, who went on to have developmental and learning problems, Professor Elliott said.
But this year’s Australian diagnostic guidelines made it clear the diagnosis could be made without the presence of physical features, Professor Elliott, one of the lead authors, said.
While children with physical characteristics were the most obvious, brain injury from alcohol exposure could occur at any point in pregnancy, not just the first trimester, she said.
“Obviously the brain is continuing to grow structurally through pregnancy, so even if you don’t have physical features and birth defects – due to that first trimester exposure – you may well have the same poor outcomes in the absence of physical features.”
“Fetal alcohol spectrum disorder” is an umbrella term for a range of severe neurodevelopmental impairments caused by alcohol exposure in utero, and categorises children into two groups: FASD with three sentinel facial features (similar to the previous diagnostic category of fetal alcohol syndrome) and FASD with less than three sentinel facial features.
These sentinel facial features are: short palpebral fissure, smooth philtrum and thin upper lip.
The diagnostic criteria also include severe impairment in at least three neurodevelopmental domains, including: brain structure/neurology, motor skills, cognition, language, academic achievement, memory, attention, executive function/impulse control/hyperactivity, affect regulation and adaptive behaviour/social skills/social communication.
After assessing the child for alcohol exposure during pregnancy, neurodevelopmental impairment and facial and other physical features, alternative explanations for the impairment should be excluded.
These may include genetic diagnoses, exposure to other teratogens and both physical and psychosocial postnatal exposures such as early life trauma.
Prevalence rates in Australia were difficult to assess, partly because of our previous reliance on conflicting international diagnostic criteria, Louise Gray, executive officer of NOFASD, the peak body for families and children with FASD, said.
A lack of awareness, and confusion, around the diagnostic criteria had also led to FASD being under-recognised and undiagnosed, she said.
But FASD was also sometimes deliberately misdiagnosed as other behavioural and conduct disorders in an attempt to spare the mother from the stigma, Gray explained.
Data suggests prevalence rates in Australia may be as high as 5%, however Professor Elliott has recorded a prevalence of 19% in one community with a very high level of alcohol use in pregnancy.
The possibility of FASD should be investigated where it was known the mother had been drinking during pregnancy, or where a child presented with unexplained developmental problems, Professor Elliott said.
Suggestive features included developmental and learning problems, issues with speech, birth defects – and “obviously any child with a small head”, Professor Elliott said.
The AUDIT-C alcohol-screening tool was useful in assessing the mother’s, and hence child’s, risk. The three questions are: How often did you drink during the pregnancy? How many drinks did you have on a typical day? And how often did you drink more than five drinks on one occasion?
“This gives you a risk score. And the risk to the mother really translates to the risk to the unborn child. We know the blood alcohol level in the mother is transmitted to the child,” she said.
There was no real way of determining an individual’s risk of an alcohol-induced brain injury because so many factors influenced the mother’s blood alcohol level and the fetus’s subsequent exposure to alcohol, she said.
The mother’s body composition, liver function and other issues also played a part, as did the way the mother and fetus each metabolised alcohol.
International research suggests that young people with FASD are 19 times more likely to be imprisoned than their peers2, and another study in a Canadian forensic mental health facility found one quarter had FASD .3
References:
1. Bower C, Elliott EJ 2016, on behalf of the Steering Group. Report to the Australian Government Department of Health: “Australian Guide to the diagnosis of Fetal Alcohol Spectrum Disorder (FASD)”.
2.Can J Public Health 2011, 102(5):336-40
3.J Dev Behav Pediatr 1999, 20(5):370-2
