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.
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.
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…
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: Diagnostic criteria for foetal alcohol spectrum disorders3 At least two characteristic facial features Growth retardation Clear evidence of brain involvement Neurobehavioral impairment With or without documented prenatal alcohol exposure 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 Documented prenatal alcohol exposure Neurobehavioral impairment (This diagnosis cannot be definitively diagnosed in children <3 years of age) Documented prenatal alcohol exposure At least one specific major malformation 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 neglectWhat is it?
FASD
Diagnostic criteria
Fetal alcohol syndrome
Partial fetal alcohol syndrome
Alcohol-related neurodevelopmental disorder
Alcohol-related birth defects
Neurobehavioral disorder associated with prenatal alcohol exposure
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-dayIs it actually still 'a thing' anymore considering all the media around women not drinking during pregnancy?
Alcohol is a teratogen with irreversible central nervous system effects.3 The teratogenic effects vary depending on: 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: But how much is too much?
It has the potential to cause harm at all stages of gestation. 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 What are the consequences of alcohol during pregnancy?
References
1
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: https://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
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.
