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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, the most prevalent of recreational drugs, have been known since records began though the true risks to pregnant mothers were 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 Disorder (FASD) 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 a number of postulated mechanisms:

  • 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 the disease. More recent US data suggests rates as high as 5 per 1000 children might be affected with FASD.

Callum is a 6-year-old boy who has been referred to paediatrics by his GP due to school concerns regarding his poor attention span and difficulty with learning and remembering new information. Whilst his peers in year 1 are working on their sight words, Callum is unable to recognize any sight words. He is described as a very social and talkative child although he doesn’t appear to always understand tasks despite being able to repeat the instructions. His parents are concerned as Callum’s older sibling also has learning difficulties. 

On your thorough history, you note that Mum consumed alcohol during pregnancy and you wonder whether this child could have 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

What are the diagnostic criteria

A diagnosis of FASD can be subdivided into 2 subcategories:

  • FASD with 3 sentinel facial features
  • FASD with less than 3 sentinel facial features

To assess an individual with prenatal alcohol exposure and/or suspected FASD, the following essential criteria must be considered:

  • Maternal alcohol use and other exposures
  • Neurodevelopmental impairment
  • Facial and other physical features
Australian guide to the diagnosis of fetal alcohol spectrum disorder (FASD)

How do we assess maternal alcohol intake?

Fetal alcohol spectrum disorder is the leading cause of preventable non-genetic intellectual disability in Australia.

Up to 50% of Australian women report drinking during pregnancy. Binge drinking occurs in 4 – 20% of pregnancies, with a peak in Indigenous Australians with approximately 22% of Aboriginal women stating that they binge drink during pregnancy.

But how much is too much?

Alcohol is a teratogen with irreversible central nervous system effects. The teratogenic effects vary depending on:

  • Quantity of alcohol
  • The pattern of alcohol consumption
  • Maternal and foetal genetics
  • Maternal age
  • Maternal nutrition
  • Smoking

Australian and international guidelines advise that there is no safe level of alcohol consumption during pregnancy, with alcohol avoidance being the goal. As such, the level of danger has not been determined. Some suggestions have been that the foetus is more at risk where:

>6 drinks per week for >2 weeks

>3 drinks per occasion on >2 weeks

Documentation of alcohol-related social or legal problems

Documentation of intoxication by blood, breath or urine alcohol testing

What are the consequences of alcohol during pregnancy?

It has the potential to cause harm at all stages of gestation.

  • First trimester – facial anomalies and major structural anomalies including brain anomalies
  • Second trimester – increased risk of spontaneous abortion
  • Third trimester – weight, length and brain growth

Neurobehavioural/neurodevelopmental effects may occur throughout gestation/pregnancy, even in the absence of facial or structural brain anomalies

Why is diagnosis important?

Allows focused interventions that better benefit the child

Early diagnosis enables early intervention. FASD Is recognised by NDIS! (permanent impairment – no further assessment required). Parents may be eligible for a Centrelink carers allowance

Comfort may be found in a label by the family (regardless of the perceived guilt that you may assume would occur). This label may help in developing appropriate expectations for the young person and their family

A diagnosis can allow a medical practitioner to better screen for associations (physical and behavioural/cognitive). It also allows the identification of women at risk of harm from alcohol and allows referral and treatment which may in turn prevent the birth of a subsequently affected child

Who can diagnose FASD?

Evaluation of FASD is ultimately done using a multidisciplinary team of specialists including a paediatrician, speech pathologist, occupational therapist, psychologist, physiotherapist, social worker +/- neurologist +/- geneticist.

How do you classify the features of fetal alcohol spectrum disorder?

Features can be classified as primary or secondary:

  • Primary: inherent functional problems associated with the impact on the central nervous system of having been exposed to alcohol
  • Secondary: social, emotional and vocational consequences that arise over time as a result of a chronic poor fit between the person and their environment

Primary symptoms

  • Changes to facial features
  • Structural defects
  • Central nervous system involvement
  • Growth retardation

Secondary symptoms

Difficulties arising from a mismatch between the young persons’ skill set and their environment include:

  • Disrupted schooling
  • Trouble with law enforcement
  • Legal confinement eg. Detention, jail, psychiatric care
  • Inappropriate sexual behaviour
  • Drug and alcohol abuse
  • Comorbid mental health diagnoses

It was noted by Streissguth et al in 2004 that one of the strongest correlates of adverse outcomes was lack of early diagnosis; the longer the delay in receiving a diagnosis, the greater the odds of adverse secondary outcomes.

What are the classical facial features of FASD?

  • A smooth philtrum
  • Thin vermillion
  • Small palpebral fissures

Even when present at birth, these features become harder to detect as the child ages as well as being more difficult to recognize with cultural diversity.

A 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.

Small palpebral fissures

A reduced distance between the endocanthium and the exocanthium)

  • Assess using palpebral fissure length charts
  • When measured in photographs, the length is often underestimated
  • Scandanavian (Stromland) charts if a child is under 6 years of age
  • Canadian (Clarren) charts if a child is over 6 years
  • Easy-to-use calculator which will determine your standard deviations –

Smooth philtrum

  • Rank 4 or 5 on the Washington Lip-Philtrum Guide
  • Charts vary depending on ethnicity

Thin upper lip

  • Rank 4 or 5 on the Washington Lip-Philtrum Guide
  • Charts vary depending on ethnicity

It is important that the child DOES NOT smile during the assessment of the philtrum/lip as this can alter lip thinness and philtrum thickness.

Other facial features that may be seen but are not included in the diagnostic criteria include:

  • Midface hypoplasia
  • Epicanthal folds
  • Reduced interpupillary distance
  • Flat nasal bridge
  • Long philtrum
  • Anteverted nares
  • Reduced intercanthal distance
  • Railroad track ears

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 other defects might you find?

Structural defects are seen in a variety of organ systems outside of the CNS. Defects include:

Cardiac

Skeletal

  • Pectus – excavatum or carinatum
  • Hemivertebrae
  • Scoliosis

Renal

  • Aplastic/dysplastic/hypoplastic kidney
  • Horseshoe kidney
  • Ureteral duplications
  • Hydronephrosis

Ocular

  • Ptosis
  • Strabismus
  • Optic nerve hypoplasia
  • Refractive problems

Auditory

Conductive or sensorineural hearing loss

Clinodactyly

https://congenitalhand.wustl.edu/2012/07/clinodactly.html

Camptodactyly

https://congenitalhand.wustl.edu/2012/03/camptodactyly.html

What neurodevelopmental domains might be affected?

Even if not meeting the criteria for FASD, 70% of children with heavy prenatal alcohol exposure show neurobehavioural effects. There is variable expressivity of symptoms when comparing individuals, and even within one child, symptoms may vary from day to day.

Defects may be structural or functional. Microcephaly (head circumference< 3rd centile) is present in 12% with FASD. Neuroimaging may reveal reduction in size or change in the shape of the corpus callosum, cerebellum, or basal ganglia.

  • Brain structure/neurology
  • Motor skills
  • Cognition – 20% with FAS have an IQ <70
  • 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 delays 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.

After taking an extensive history and performing multiple clinical examinations in consultation with allied health staff, you come to the conclusion that Callum has a diagnosis of foetal alcohol spectrum disorder. His mother is mortified about the situation and isn’t sure what this will mean for Callum (both now and in the future) as well as the family.

What is the role of the paediatrician in the management of FASD?

  • Early identification
  • Education and anticipatory guidance for families
    • Helping parents understand the neurobehavioural difficulties of FASD
    • Helping parents develop appropriate expectations
    • Preparing parents for age-related changes in behaviour/risks
  • Providing family support
    • Reduce stigma/shame
    • Acknowledge the challenges of having a child who has FASD
    • Provide resources
    • Assess the risk for child abuse and neglect
  • Medical management
    • Linking families with community services
    • Monitor growth/nutrition and medical conditions
    • Identify co-existing mental health conditions
    • Plan for transition

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 preschool children with the syndrome.

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

Can medication help?

Medications are not the first line in FASD although may be used in conjunction with behavioural and environmental/family interventions to treat FASD co-morbidities including:

It should be remembered that some of the symptoms of FASD may mimic conditions such as ADHD therefore if a trial of medication is not found to be beneficial, it should be discontinued.

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.

General management recommendations

These should be made to every family to improve behaviour management and promote the development of social and cognitive skills. They do not need to be made “all at once” as the family may find this overwhelming however should be included in your ongoing consultants to help reduce the complications of FASD and improve family cohesion.

Secure attachment and positive relationships can be promoted by:

  • Providing “special time” with the child every day (consistent, undistracted quality time)
  • Assuring the child that this home is safe and permanent

Problem behaviours may be reduced by:

  • Increasing the predictability and structure of the home and school environment
  • Using visual prompts and sequences to simplify instructions, and reinforce and remind children how to perform activities of daily living
  • Developing behaviour plans built on positive reinforcement and healthy discipline strategies
  • Simplifying the environment (eg. avoiding multistep commands, reducing distractions)

Families can work to enhance development and cognitive functioning by:

  • Increasing functional language skills in daily activities (eg. through reading, telling stories, and pretend play)
  • Promoting self-care activities and adaptive skills (eg. reinforcing attempts and successes of desired behaviours, limiting the number of choices and decisions, modelling desired behaviours)
  • Enhancing basic mathematic skills (eg. teaching about volume, weight, and length through play, monetary values when shopping)
  • Developing social skills through play dates and the use of social stories
  • Reinforcing appropriate social boundaries (eg. reading social cues, rehearsing social scenarios)
  • Developing executive functioning skills (eg. using visual schedules, highlighting or colour coding academic lessons, labelling tasks or homework for the child, sequencing steps in a task, developing checklists)

Fact sheets for families

https://www.nofasd.org.au/resources/fact-sheets

https://www.cdc.gov/ncbddd/fasd/documents/fasd_english.pdf

How can FASD be prevented?

Primary prevention – the elimination of the root cause of a problem by broad-based efforts to promote the health and well-being of a community (ie. to have no fetuses exposed to alcohol, therefore, eliminating FASD before it ever occurs)

Secondary prevention – to reduce the duration and severity of maternal drinking by identification of the person at risk

Tertiary prevention – reducing the complications, impairments, and disabilities caused by FAS, and includes activities that prevent the recurrence of the condition in subsequent children.

References

Australian Medical Association. 2016 August 24. “Fetal Alcohol Spectrum Disorder (FASD) – 2016.” Barton, ACT. Link: https://ama.com.au/position-statement/fetal-alcohol-spectrum-disorder-fasd-2016

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

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

Department of Health and Human Services – USA. April 2015. “Fetal Alcohol Exposure”. United States of America. Link: https://pubs.niaaa.nih.gov/publications/fasdfactsheet/fasd.pdf

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

Hume, S., Rutman, D., Hubberstey, C., Lentz, T., & Van Bibber, M. (2009). Key worker and parent support program: Final formative evaluation report.

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.

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.

National Organisation of Fetal Alcohol Spectrum Disorders

McDougall S, Mclean S. 2014. “Foetal alcohol spectrum disorders: current issues in awareness, prevention and intervention.” Child Family Community Australia. Available at: https://aifs.gov.au/cfca/sites/default/files/publication-documents/cfca-paper29-fasd.pdf

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

National Organization for Foetal Alcohol Spectrum Disorders. Australian Government. Department of Health. 2017. Available from: https://www.nofasd.org.au

Parliament of Western Australia. September 2012. “Foetal Alcohol Spectrum Disorder: the invisible disability.”  Perth, WA. Link: https://www.parliament.wa.gov.au/Parliament/commit.nsf/%28Report+Lookup+by+Com+ID%29/1740F63B37A1314A48257A7F000766DD/$file/Final+FASD+Report+with+signature.pdf

Streissguth, A. P., Bookstein, F. L., Barr, H. M., Sampson, P. D., O’Malley, K., & Young, J. K. (2004). Risk factors for adverse life outcomes in fetal alcohol syndrome and fetal alcohol effects. Journal of Developmental and Behavioural Pediatrics, 25(4), 228–238. Hume et al., 2009, p. 6

The Working Group for FAS. 2003, August. Prevention of Foetal Alcohol Syndrome (FAS). Canadian Academy of Child and Adolescent Psychiatry. 12(3): 87-91. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2582740/

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

Weitzman C, Rojmahamongkol P. 2017 August 8.  “Fetal alcohol spectrum disorder: Clinical features and diagnosis “. In: UpToDate, Post TW (Ed), UpToDate, Waltham, MA

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

Weitzman C, Rojmahamongkol P. 2017 July.  “Fetal alcohol spectrum disorder: Management and prognosis”. In: UpToDate, Post TW (Ed), UpToDate, Waltham, MA

About the authors

  • Mary is an advanced trainee in General Paediatrics/Community and Developmental Paediatrics. Has called Townsville home for the last decade. Outside of work, she enjoys eating and Crossfit (one of 'those people'!)

  • Andrew Tagg is 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. He/Him @andrewjtagg | + Andrew Tagg | Andrew's DFTB posts

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