Fetal Alcohol Syndrome

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Alcohol use is common in Australian women with surveys suggesting that around 90% of 18-45 year olds have had a drink in the last year and that around 39% of these are unaware of the health implications of drinking on the developing fetus. Fetal Alcohol Syndrome is a leading cause of preventable intellectual disability. An Australian diagnostic guide has recently been developed by the Telethon Kids Institute to help clinicians make the diagnosis of Fetal Alcohol Syndrome Disorders. In this post we cover some of the basics of Fetal Alcohol Syndrome and provide some resources for those who want to learn more.

Bottom line

Fetal alcohol syndrome is 100% avoidable and the NHMRC recommends that women who are pregnant, or thinking of getting pregnant, avoid alcohol altogether.

The harms of alcohol, that most prevalent of recreational drugs, have been known since records began though the true risks to pregnant mothers was probably downplayed in the earlier parts of the 20th century following the repeal of the Volstead act and the end of Prohibition.

Mr Pickwick takes a bow

 

“Betsy Martin, widow, one child, and one eye. Goes out charring and washing, by the day; never had more than one eye, but knows her mother drank bottled stout, and shouldn’t wonder if that caused it (immense cheering). Thinks it not impossible that if she had always abstained from spirits she might have had two eyes by this time.

                                        The Pickwick Papers – Charles Dickens

Whilst social commentators, such as Dickens, may have recognised that maternal alcohol intake has an impact on their children, it wasn’t until 1968 when a Frenchman first described the adverse effects of maternal alcohol intake on offspring. The term Fetal Alcohol Syndrome (FAS) was coined by two dysmorphologists, Jones and Smith, five years later. As with a lot of medicine the syndrome was based on small numbers, in this case eight case reports of…

“…craniofacial, limb, and cardiovascular defects associated with prenatal onset growth deficiency and developmental delay” in eight unrelated children of three ethnic groups, all born to mothers who were alcoholics.”

Fetal or foetal?

Fetal, of course. Those of you with a classical education will recognize its derivation from the Latin root fere – to bear or conceive. It’s not an Americanisation of an English spelling.

By the year 2000, it was apparent that in utero alcohol exposure was linked to a number of neurodevelopmental deficits in the absence of characteristic facial features and so the term Fetal Alcohol Spectrum Disorder (FASD) was coined. FASD encompasses a variety of syndromes from Fetal Alcohol Syndrome (FAS), partial Fetal Alcohol Syndrome (pFAS), Alcohol-Related Neurodevelopmental Disorder (ARND) and Alcohol Related Birth Defects (ARBD).

How does alcohol cause harm?

There are number of mechanisms postulated:

  • Ethanol and its toxic metabolites, such as acetaldehyde, freely cross the placenta into the fetal compartment.
  • Developing fetal nervous tissue appears to be particularly sensitive to ethanol toxicity.
  • The developing fetal liver is less able to metabolise ethanol and so the fetus has a much longer exposure to alcohol.

The rate of FASD has been estimated as 2.76 per 1000 among indigenous Australians and 0.02 per 1000 births in non-indigenous Australians. This most likely under-represents the number of cases. Maternal alcohol intake can vary during the course of pregnancy and unless data is collected prospectively an accurate determination of consumption is challenging. A large number of women will have already imbibed before they even knew they were pregnant.

There is also a lack of physician awareness of the condition. This also leads to underdiagnosis. At present there is no Australian national reporting standard. Published rates of FAS are lower than those from the United States (1 to 1.5 per 1000 children) with certain at risk populations showing a higher prevalence of disease. More recent US data suggests rates as high as 5 per 1000 children might be affected with FASD.

How is the diagnosis made?

Classically the diagnosis of FAS required the presence of a number of diagnostic markers

  • A history of maternal alcohol exposure
  • The classical facial features
  • Neurodevelopmental problems

Let’s break these last two items down a little further.

What are the classical facial features of FAS?

  • A smooth philtrum
  • Thin vermillion
  • Small palpebral fissures

Child presenting with the 3 diagnostic facial features of FAS: (1) short palpebral fissure lengths, (2) smooth philtrum (Rank 4 or 5 on the Lip-Philtrum Guide), and (3) thin upper lip (Rank 4 or 5 on the Lip-Philtrum Guide). Legend written by Susan Astley, PhD. © 2015, Susan Astley PhD, University of Washington.

 

These can be measured using a lip-philtrum guide, either directly or using computer-aided analysis of facial photographs. There is a great guide to the required measurements in this review article from Williams, Smith et al in Paediatrics.

There is also the requirement that there is severe impairment in at least 3 of 10 neurodevelopmental fields.

What neurodevelopmental domains might be affected?

  • Brain structure/neurology
  • Motor skills
  • Cognition
  • Language development
  • Academic achievement
  • Memory
  • Attention
  • Executive function (including impulse control and hyperactivity)
  • Affect regulation
  • Adaptive behaviour, social skills and communication

Although intelligence is commonly affected, it is possible that a child with FASD has normal or above-normal levels of intelligence. Because learning, developmental and social skills delay are relatively common it is certainly possible that a large number of cases are not diagnosed until school age. It is worth considering whether a child, diagnosed with ADHD, really might have a delayed diagnosis of FAS. The classical facial features tend to be less obvious as the child ages.

The latest Australian recommendations suggest the following rationalisation of diagnoses, making thins much easier for clinicians:

Fetal Alcohol Spectrum Disorder diagnostic criteria

How is it treated?

Fetal alcohol syndrome is 100% avoidable and the NHMRC recommends that women who are pregnant, or thinking of getting pregnant, avoid alcohol altogether.  Regular, heavy drinking of 4 or more standard drinks at a time at least once a week, or binge drinking (especially in the neurodevelopmentally critical first trimester) is strongly associated with FASD. Brief, motivational interviewing may make a difference and is something that all of us who see pregnant women in the ED should routinely do. Shaming women into giving up alcohol does not work.

If a child has been identified as having a variant of FAS then early neurocognitive rehabilitation and attention training can improve the outlook of pre-school  children with the syndrome.

There may be a role for neuroleptic medication but so far the data on stimulants (a la ADHD) is equivocal.

As with many other cases of intellectual disability, children with FASD have an increased risk of developing mental health issues in adulthood. There are also a number of studies that suggest juveniles with FASD are more likely to get into trouble with the law or come into contact with the criminal justice system.

 

References

Burns L, Elliott E, Black E, Breen C, editors. Fetal alcohol spectrum disorders in Australia: an update. Canberra: Intergovernmental committee on drugs working party on fetal alcohol spectrum disorders. June 2012 Full text here

Warren KR. A Review of the History of Attitudes Toward Drinking in Pregnancy. Alcoholism: Clinical and Experimental Research. 2015 Jul 1;39(7):1110-7

Lemoine, P.; Haroussou, H.; Borleyru, J.P.; and Menuet, J.C. Les enfants de parents alcooliques: Anomalies observees a propos de 127 cas. [Children of alcoholic parents: Anomalies observed in 127 cases.] Ouest Medical 21:476–482, 1968.

Jones K, Smith D, Ulleland C, Streissguth A. Pattern of malformation in offspring of chronic alcoholic mothers. The Lancet. 1973 Jun 9;301(7815):1267-71.

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)”. Full text guidelines here

Williams JF, Smith VC. Fetal alcohol spectrum disorders. Pediatrics. 2015 Nov 1;136(5):e1395-406. Full text here

Elliott EJ. Fetal alcohol spectrum disorders in Australia – the future is prevention. Public Health Res Pract. 2015;25(2):e2521516 Full text here

National Organisation of Fetal Alcohol Spectrum Disorders

National Health and Medical Research Council. Australian guidelines to reduce health risks from drinking alcohol. Canberra: Commonwealth of Australia; 2009 Full text here

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An Emergency Physician with a special interest in education and lifelong learning. When not drinking coffee and reading Batman comics he is playing with his children.

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