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 function^{2 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 Exposed^2 3.

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 Communities^22 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 ^7 8 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.