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February 16, 2017

Fetal Alcohol Spectrum Disorder (FASD)

What is Fetal Alcohol Spectrum Disorder?

Fetal Alcohol Spectrum Disorder (FASD) describes a range of physical, cognitive, developmental and emotional deficits attributable to alcohol consumption during pregnancy.  Alcohol readily crosses the placenta from mother to fetus.  The developing fetus does not have the ability to process alcohol as the liver is not fully formed resulting in a blood alcohol content (BAC) the same or higher than the mother and this remains high for a longer period of time1.

Alcohol can alter the normal development of a fetus, including brain and major organ impact.  The risk to the fetus is highest with frequent maternal alcohol intake however the risk of harm associated with low level exposure is not clear.

FASD may be considered an acquired brain injury caused by alcohol exposure before birth2. The range and severity of FASD differ from case to case and the signs and symptoms become apparent to varying degrees from birth to adulthood.

Alcohol can cause variable physical and behavioural effects on the developing fetus.  Damage to the fetus may occur at any time during pregnancy and the level of harm may be dependent on the amount and frequency of alcohol consumption and may also be moderated by other factors such as intergenerational alcohol use, parent age, health of the mother, nutritional status, tobacco use and environmental factors including stress, exposure to violence, poverty and family structure1.

FASD is often referred to as the ‘invisible disability’ due to the complexity of diagnosis.

Diagnosis is based on the presentation of the presence of key characteristic features which are often unique to the individual and may range from physical changes to developmental and/or neurobehavioural factors which may be difficult to categorise1.  Early diagnosis in some cases with little or no physical features remains difficult.

In May 2016 the Australian government endorsed new guidelines for diagnosis2

The Australian FASD Diagnostic Instrument states that for a diagnosis of FASD an individual must have:

  • prenatal alcohol exposure; and
  • severe neurodevelopmental impairment in at least three of ten specified domains of central nervous system structure or function2 3.

Within this diagnostic criteria are two sub-categories:

  • FASD with three sentinel facial features (previously referred to as Fetal Alcohol Syndrome); and
  • FASD with less than three sentinel facial features – previously referred to as Partial Fetal Alcohol Syndrome and Neurodevelopmental Disorder-Alcohol Exposed3.

Diagnosis of FASD is complex and ideally requires a multidisciplinary team of clinicians to evaluate an individuals level of exposure, neurological impairment and general physical or developmental delay3. In some cases there may be no physical impairments and FASD may go undetected or misdiagnosed until much later in life4.

Incorrect or misdiagnosis of FASD may result in the person not receiving the most adequate care and assistance that may help them manage better.

How common is FASD in Australia?

FASD occurs in all parts of Australian society where alcohol is consumed. The prevalence of FASD in Australia is currently unclear however the prevalence of the disorders associated with FASD has been estimated to be up to 2% in the United States, up to 5% in Italy and up to 23% in some South African Communities22 23.

Up until 2016 there was no uniformly accepted diagnostic criteria for FASD, which made it difficult to determine how often it occurs in the population. Poor knowledge of FASD among primary carers contributes to making it difficult for diagnosis to be made. Accurate data collection is also lacking3.

FASD is more common in populations that experience high degrees of social disadvantage and poverty, such as Indigenous groups3.

A population prevalence study of FASD in the remote Aboriginal community of Fitzroy Crossing reported a prevalence of 12% (in 108 children)25. This is the highest reported rate in Australia and results are similar to that of other at-risk populations globally.

The consequences of FASD

The consequences of impairment from FASD may increase over a person’s lifespan (in particular in relation to their cognitive or behavioural symptoms) as there tends to be less social tolerance for some behaviours in adults than there is in childhood4.

FASD is associated with irreversible damage to neural development and leads to lifelong consequences for the individual, their family and society. FASD is therefore a significant contributor to the burden of disease, to the burden of social costs and to health inequalities.

Fetal Alcohol Spectrum Disorder is currently not recognised as a disability in Australia.  This makes access to support services, education support, early intervention and financial support very difficult for families.  A number of peak bodies, including the AMA, continue to lobby for the inclusion of FASD on the Department of Human Services Disability List5.

We currently lack a complete understanding of the structural and functional brain abnormalities of FASD and determining whether a neurocognitive or behavioural disorder is a direct consequence of pre-natal alcohol exposure or due to a number of factors is difficult.  The question of what is a ‘safe level’ of light-to-moderate drinking during pregnancy is not fully informed by human studies, therefore a safe level cannot be verified6.

A growing body of evidence is emerging from both animal and human studies recognising the impact of alcohol consumption in the pre-conception period causing DNA damage to sperm and ova 9.   Whilst little is currently know about the extent to which paternal alcohol consumption influences FASD risk, research spanning three decades consistently reports paternal alcohol consumption in the preconception period impacts on the viability and health of sperm10.  Paternal alcohol consumption is linked with low birth weight, miscarriage and reduced cognitive ability11.

These findings illustrate that alcohol prevention for both parents, starting before conception, may be critical to FASD prevention12.

There appears to be an exposure-response relationship throughout pregnancy between the pattern of alcohol use and the level of fetal harm however accurate data is lacking.

Defects caused by prenatal exposure to alcohol have been identified in nearly every part of the body including brain, bones, kidneys, eyes, ears, heart and face.

Measurable harms from FASD may include:

  • characteristic facial malformations;
  • brain and central nervous system disorders;
  • memory and difficulties in completing task and numeracy; and
  • impaired growth and development 13 3 14.

Other associated conditions can include heart and kidney defects, hearing and eyesight impairments, skeletal defects and immune system deficiencies.

References
  1. NOFASD. What is FASD. National Organisation for Fetal Alcohol Spectrum Disorders. [Online] 2016. http://www.nofasd.org.au/resources/what-is-fasd-1.
  2. Russel V. Fetal Alcohol Spectrum Disorder (FASD) Prevention for Community Drug Action Teams. Melbourne : The Australian Drug Foundation, 2016.
  3. Bower C, Elliot EJ. Report to the Australian Government Department of Health: Australian Guide to the diagnosis of Fetal Alcohol Spectrum Disorder (FASD). s.l. : Australian Government , 2016.
  4. ADF. Fetal Alcohol Spectrum Disorder. Alcohol and Drug Foundation. [Online] 2016. www.adf.org.au.
  5. AMA. Recognise Fetal Alcohol Spectrum Disorders as Disability. Australian Medical Association. [Online] 01 September 2016. https://ama.com.au/media/fasd-should-be-recognised-disability.
  6. Drinking during pregnancy and the developing brain: is any amount safe? Charness M, Rile E, Sowell E. 2016, Trends in Cognitive Sciences.
  7. Influence of paternal preconception exposures on their offspring: through epigenetics to phenotype. Day J, Savani S, Krempley B, Nguyen M, Kitlinska J. 2016, American Journal of Stem Cells, pp. 11-18.
  8. Male germline transmits fetal alcohol epigenetic marks for multiple generations: a review. Sarkar D. 2015, Addiction Biology, pp. 23-34.
  9. Fetal Alcohol Spectrum disorders: The Epigenetic perspective. Haycock P. 2009, Biology of Reproduction, pp. 607-617.
  10. Effects of chronic alcoholism on male fertility hormones and semen quality. Muthusmi K, Chinnaswamy P. 2005, Fertility and Sterility, pp. 919-924.
  11. Learning achievements in sons of alcoholics. Hegedus A, Alterman A, Tarter R. 1984, Alcoholism: Clinical and Experimental Research, pp. 330-333.
  12. Alcohol Use during Pregnancy: Considerations for Australian Policy. McBridie N. 2014, Social Work in Public Health, pp. 540-548.
  13. Closing the Gap Clearinghouse (AIHW & AIFS). Fetal Alcohol spectrum disorders: a review of interventions for prevention and management in Indigenous Communities. . Canberra : Australian Institute of Health and Welfare Melbounre & Australian Institute of Family Studies, 2014.
  14. McLean S, McDougall S. Fetal Alcohol Spectrum Disorders: Current issues in awareness, prevention and intervnetion. . Melbourne : Australian Institute of Family Studies, 2014.
  15. The Association of Mild, Moderate and Binge Prenatal Alcohol Exposure and Child Neuropsychological Outcomes: A Meta-Analysis. Flak A, Bertrand J, Denny C, Kesmodel U, Cogswell M. 2014, Alcoholism: Clinical and Experimental Research, pp. 214-226.
  16. Department of the House of Representatives. FASD: The Hidden Harm. Inquiry into the prevention, diagnosis and management of Fetal Alcohol Spectrum Disorders. Canberra : House of Representatives Standing Committee on Social Policy and Legal Affairs, 2012.
  17. AIHW. Australian Institute of Health and Welfare. National Household Drug Survey report. Canberra : Commonwealth Department of Health and Aged Care, 2013.
  18. Prental Alcohol Consumption Between Conception and Recognition of Pregnancy. McCormack C, Hutchinson D, Burns L, Wilson J, Elliott E, Allsop S, Najman J, Jacobs S, Rossen L, Olsson C, Mattick R. 2017, Alcohol: Clinical and Experimental Research, pp. 369-378.
  19. Elliot EJ. Fetal alcohol spectrum disorders in Australia – the future is prevention. Public Health Research and Practice. March 2015.
  20. Its a shame! Stigma against Fetal Alcohol Spectrum Disorder: Examing the Ethical Implications for Public Health Practices and Policies. Bell E, Andrew G, Di Pietro N, Chudley A, Reynolds J, Racine E. 2015, Public Health Ethics , pp. 1-13.
  21. NOFAS. NOFAS Statement on the Stigma of FASD. National Organisation on Fetal Alcohol Syndrome. [Online] 2015. http://www.nofas.org/2015/08/24/nofas-statement-on-the-stigma-of-fasd/.
  22. The continum of fetal alcohol syndrome spectrum disorders in a community in South Africa: Prevalence and characteristics in a fifth sample. May PA, Marais AS, de Vries MM, Lakberg WO, Buckley D, Hasken JM, Adnams CM, Barnard R, Joubert B, Cloete M, Tabachnick B, Robinson LK, Manning MA, Jones KL, Bezuidenhout H, Seedats S, Parry CD, Hoyme HE. 2016, Journal of Drug and Alcohol Dependence, p. 168.
  23. Prevalence and epidemiological characteristics of FASD from various research methods with an emphasis on recent in-school studies. . May PA, Gossage JP, Kalberg WO, Robinson LK, Buckley D, Manning M, Hoyme HE. 2009, Albuquerque Developmental Disabilities Research Reviews, pp. 176-192.
  24. Elliott L, Coleman K, Suebwongpat A, Norris S. Fetal Alcohol Spectrum Disorders (FASD): systematic reviews of prevention, diagnosis and management. Christchurch : HSAC report: Health Services Assessment Collaboration, 2008.
  25. Prevalence of fetal alcohol syndrome in a population-based sample of children living in remote Australia: the Liliwan Project. Fitzpatrick JP, Latimer J, Carteer M, Oscar J, Ferreira ML, Carmichael OH, Lucas BR, Doney R, Salter C, Try J, Hawkes G, Fitzpatrick E, Hand M, Watkins RE, Martiniuk AL, Bower C, Boulton J, Elliott EJ. 2015, Journal of Paediatrics and Child Health, pp. 450-457.
  26. NHMRC. Australian guidelines to reduce risks from drinking alcohol. Canberra : National Health and Medical Research Council, 2015.