Fetal alcohol spectrum disorder

Shares

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… 

 

Why is diagnosis important?

  • Allows focused interventions that better benefit the child
    • Early diagnosis enables early intervention6
    • Is a recognised diagnosis with NDIS!1 (permanent impairment – no further assessment required)
    • May be eligible for a Centrelink carers allowance2
  • Comfort” may be found in a “label” by the family (regardless of the perceived guilt that you may assume would occur)
  • Help to develop appropriate expectations for the young person and their family3
  • Can allow medical practitioner to better “screen” for associations (physical and behavioural/cognitive)
  • Allows identification of women at risk of harm from alcohol and allow referral and treatment which may in turn prevent the birth of a subsequent affected child6

What is it?

 

Fetal alcohol spectrum disorder (FASD) is a non-diagnostic umbrella term used to describe the permanent, severe neurodevelopmental impairments that may occur as a result of maternal alcohol consumption during pregnancy.4 A history of alcohol consumption during pregnancy alone is not sufficient for diagnosis however; further assessment and clinical examination is required before assigning this significant label (with significance applicable not only for the child but also the family).

FASD is an umbrella term that includes a range of disorders3 including:

  • Fetal alcohol syndrome (FAS) – the most common clinically recognisable manifestation of FASD
  • Partial fetal alcohol syndrome
  • Alcohol related neurodevelopmental disorder (ARND)
  • Neurobehavioural disorder associated with prenatal alcohol exposure
  • Alcohol related birth defects (ARBD)

Diagnostic criteria for foetal alcohol spectrum disorders3

 FASD Diagnostic criteria
 Fetal alcohol syndrome

At least two characteristic facial features

Growth retardation

Clear evidence of brain involvement

Neurobehavioral impairment

With or without documented prenatal alcohol exposure

Partial fetal alcohol syndrome

With documented prenatal alcohol exposure:

§  At least two characteristic facial features

§  Neurobehavioral impairment

Without documented prenatal alcohol exposure:

§  At least two characteristic facial features

§  Growth retardation OR clear evidence of brain involvement

§  Neurobehavioral impairment

Alcohol-related neurodevelopmental disorder

Documented prenatal alcohol exposure

Neurobehavioral impairment

(This diagnosis cannot be definitively diagnosed in children <3 years of age)

Alcohol-related birth defects

Documented prenatal alcohol exposure

At least one specific major malformation associated with prenatal alcohol exposure

Neurobehavioral disorder associated with prenatal alcohol exposure

Documented prenatal alcohol exposure

Neurobehavioral impairment and onset in childhood

Facial features, growth retardation, and clear evidence of brain involvement not necessary (but may be present)

Not better explained by other teratogens; genetic or medical conditions; or environmental neglect

Is it actually still 'a thing' anymore considering all the media around women not drinking during pregnancy?

 

Fetal alcohol spectrum disorder is the leading cause of preventable non-genetic intellectual disability in Australia.4,5

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.5

www.starkmhar.org/training-and-events/fasd-awareness-day

But how much is too much?

Alcohol is a teratogen with irreversible central nervous system effects.3 The teratogenic effects vary depending on:

  • Quantity of alcohol
  • 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.7 As such, the level of danger has not been determined. Some suggestions have been that the foetus is more at risk where:

  1. >6 drinks per week for >2 weeks
  2. >3 drinks per occasion on >2 weeks
  3. Documentation of alcohol related social or legal problems
  4. 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 à facial anomalies and major structural anomalies including brain anomalies
  • Second trimester à increased risk of spontaneous abortion
  • Third trimester à weight, length and brain growth

Neurobehavioural/neurodevelopmental effects may occur throughout gestation/pregnancy, even in the absence of facial or structural brain anomalies.3

https://www.cdc.gov/dotw/fasd/index.html

 

 

References 

1 https://www.ndis.gov.au/people-with-disability/access-requirements/completing-your-access-request-form/evidence-disability

2 https://www.humanservices.gov.au/customer/forms/sa426

3 Weitzman C, Rojmahamongkol P. 2016 September 13.  “Fetal alcohol spectrum disorder: Management and prognosis”. In: UpToDate, Post TW (Ed), UpToDate, Waltham, MA.

4 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

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

6 Elliot, E. British Medical Journal. 2017 January 11. “Fetal Alcohol Spectrum Disorder” Westmead, Australia.

7 National Health and Medical Research Council. (2009). “Australian Guidelines to Reduce Health Risks from Drinking Alcohol.” Canberra, Australia.

8 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

Print Friendly, PDF & Email

About 

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’!)

Author: Mary Hardimon

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’!)