Fetal Alcohol Spectrum Disorder (FASD)
By Elizabeth Russell
This chapter has been taken in part from the chapter on FASD in my first book by Dr Sterling Clarren.
Fetal Alcohol Spectrum Disorder is an umbrella term for conditions that are caused as a result of drinking alcohol during pregnancy but is not a diagnosis. Alcohol is a substance that causes birth defects and as such can affect the unborn child’s development. If a woman drinks while she is pregnant the alcohol, no matter how much or how little, crosses the placental barrier and circulates through the baby’s system. However, it remains with the baby longer because the mother metabolises the alcohol with a fully formed liver, whereas the baby’s liver is small and undeveloped so the blood alcohol level of the baby is the same as that of the mother. This means that there is no known level of alcohol consumption during pregnancy that is safe for the baby.
There is a range of effects on the spectrum from mild to severe. The mild effects may not result in mental retardation, but it is possible that the brain has been damaged and the executive functioning (the higher order thinking and judgment skills) of that person compromised. While the child grows and appears normal there could be subtle, and not so subtle, behavioural problems associated with the prenatal injury.
At the severe end there can be the same behavioural problems but the child will also have the distinctive facial features of FAS. These facial features and more detailed symptoms and characteristics are described later in this chapter.
Much of the research that has been conducted has been in North America by researchers such as Professors Sterling Clarren, Susan Astley and Ab Chudley. Sterling Clarren’s primate and mouse research on alcohol and pregnancy found that the lip and philtrum anomaly of (full) FAS occurred in a very small window of time which would be on the 19th to 20th day after conception in the human – the period called gastrulation. Since the diagnosis of FAS depends on having the full set of facial features then it is likely that only exposures that include the 19th or 20th day will attract the diagnosis of FAS. However, a child can still have a serious brain injury without the facial characteristics.
This work strengthens the importance of referring to the condition in terms of the full spectrum rather than the syndrome alone. This is why there is a perception in Australia that fetal alcohol spectrum disorder is rare. Our medical profession has had very limited training in diagnosis and many only recognise, if at all, those children with very obvious facial features – those with full blown fetal alcohol syndrome.
However, according to Professor Clarren’s research, if a mother does not drink on the 19th or 20th day, the child may still have brain damage but no facial features. It is well documented in North America that children with facial features are only the tip of the iceberg. Overseas studies show that for every child diagnosed with full FAS there will be another three to ten with alcohol-related neurodevelopmental disorders, the conditions that remain on the spectrum when the full syndrome is removed .
In North America and Canada, multidisciplinary teams are trained to diagnose FASD. Team members typically include, but are not limited to, physicians, psychiatrists, psychologists, speech/language pathologists, occupational therapists, and social workers.
There are NO such interdisciplinary teams in Australia, nor are there many ‘experts’ so it is particularly concerning that we have high profile members of the medical profession who have obviously had no training in the diagnosis of FASD and presumably very limited understanding of the disability, making uninformed and dangerously misleading statements indicating that in order to get a diagnosis of full Fetal Alcohol Syndrome at least eight drinks a day would have to be consumed when in fact obtaining a diagnosis of full FAS is not reliant on how much is consumed but when it is consumed.
This condition is not restricted to the indigenous population or alcoholic women; it is easier to identify in the children of alcoholic women but FASD can and does strike a family who may have no idea that their child is affected until he or she reaches puberty when behavioural problems become more marked. By then it may be difficult to relate back to the pregnancy and the few glasses of wine each day or even, in some cases, each week.
Dr Margaret Clarke, an eminent Canadian FASD researcher, has found that in Canada 96% of mothers with alcohol-affected children are social drinkers, and only 4% are alcohol dependent . This makes an accurate diagnosis more difficult and having a multidisciplinary team undertake the diagnosis more necessary.
FASD can cause behavioural problems similar to those caused by the environment. However, the antisocial or delinquent behaviour caused by the environment sometimes can be resolved if given appropriate and consistent assistance at the right time, because while the behaviour and the psychology are abnormal, the brain has not been physically injured. People who have FASD have a brain injury so will not be able to make the necessary changes, even though they seem to have the ability to do so. FASD is not an excuse for bad behaviour; it is the reason for it.
Sufferers often try to do what is expected of them, but it is like assuming persons in wheelchairs will be able to walk just because we tell them to. The difference, of course, is that we wouldn’t expect people with paraplegia or quadriplegia to walk if we yell at them enough, but every day people with brain injuries are expected to ‘walk’ when they are in metaphorical wheelchairs. Moreover, no one can see their ‘wheelchair’, no one knows about this injury because it is not visible; and it would certainly not be obvious that they have FASD simply by talking with them for a short time, unless they have the distinctive facial features or a lower IQ.
A common mistake is to assume that because a person can ‘talk the talk’ he or she can also ‘walk the walk’. This is not true for people with FASD. Their expressive language is far better than their receptive language and so they can say they understand what is being said, and can even repeat what has been said, but if it’s a complicated or abstract concept or if there is more than one idea, instruction or topic, then it is unlikely that information will be accurately interpreted.
Only a relatively small number of people with FASD have a low IQ and these individuals will usually have access to services as a result. However, gaining access to services is challenging for affected people without an advocate because they won’t always present as having a disability yet will have compromised executive functioning. For them it will be a ‘catch-22’ situation where without a low IQ, they will be difficult for others to identify, yet because of the prenatal alcohol exposure are generally unable to advocate for themselves. Without either an advocate or insight into their disability these individuals will be unlikely to proactively access the services they will desperately need during their lifetime. One of the ways they are likely to access services is involuntarily through legal direction or because of florid mental illness.
So with no diagnosis, friends, family and other significant people in their lives will not fully understand the reasons for their behaviours. They may believe it’s because of dysfunctional parenting, abuse, mental illness, genetics, drugs, alcohol, or just plain irrepressible immaturity when in fact their brains have been saturated with alcohol, destroying brain cells, when they were in their mother’s womb.
The diagnosis of full fetal alcohol syndrome is based on three features:
- Pre- and post-natal growth deficiency;
- A distinct pattern of cranio-facial malformations; and
- Brain and central nervous system (CNS) dysfunction.
The pattern of facial and other anomalies as a result of maternal drinking can include:
- small eye openings (palpebral fissures)
- flat midface (cheekbones)
- flattened groove between nose and upper lip (philtrum)
- thin upper lip
- low birth weight
Central Nervous System abnormalities, of at least one of the following:
- small head size
- structural abnormalities of the brain
- neurological problems (such as impaired motor skills, poor coordination, hearing loss, visual problems)
- behavioural and/or cognitive problems such as:
- intellectual disability
- learning difficulties
- poor impulse control
- problems in social perception
- problems in memory, attention, reasoning and judgment; and
- deficits in some mathematical and language skills
Alcohol is a behavioural teratogen. A teratogen is a substance that causes birth defects and a behavioural teratogen is a substance that also causes behavioural problems.
Although alcohol exposure presents a physical risk to the fetus much like mercury and thalidomide, it is in the area of behaviour that alcohol seems to do the most long-term damage. People with FASD may have trouble setting personal boundaries and observing other people’s boundaries. They often have emotional problems, can be impulsive, may not be able to sustain relationships, and often cannot anticipate consequences. They have difficulty paying attention, poor organisational skills and struggle to complete tasks.
FASD is permanent, irreversible brain damage and this brain injury is the primary disability; however, secondary disabilities may occur when the primary disability is not recognised and appropriate strategies and interventions put into place. Although the primary disabling conditions of prenatal alcohol exposure last a lifetime, the secondary disabilities can be prevented.
From life history interviews of 415 individuals with FASD using 450 questions, Dr Streissguth from the University of Washington found that:
- 94% of people diagnosed with FASD experienced mental health problems – which was the most prevalent secondary disability
- 43% of people of school age experienced disrupted school experience (suspension, expulsion or drop out)
- 42% of people and 60% aged 12 and over had been in trouble with the law (involvement with authorities, charged or convicted of crime)
- 60% had been confined (inpatient treatment for mental health, alcohol/drug problems, or incarceration for crime)
- 45% aged 12 and over were reported to have exhibited inappropriate sexual behaviour
- 30% of people over the age of 12 experienced alcohol and drug problems
Problems with employment were indicated in 80% of adults with FASD. Problems with parenting: Of the 100 females of childbearing age, 30 had given birth; 40% drank during pregnancy, more than half no longer had the child in their care. Of their children, 30% have been diagnosed with or were suspected of having FASD.
If it is not possible to halt the secondary disabilities through appropriate interventions, strategies and environmental modifications, then it is vital that they be understood so that relevant management strategies can be developed and implemented.
Dr Streissguth’s research found that secondary disabilities could be prevented if the following occurs:
- Early diagnosis is a universal protective indicator for all secondary disabilities; only 11% of individuals with FASD were diagnosed by the age of six years.
- Eligibility for services from disability agencies (including Disability Support Pension, Disability Open Employment Agencies, Vocational Rehabilitation and assessments from appropriate allied health professionals) is another strong protective factor – most individuals with FASD need these services, yet most do not qualify.
- Living in stable home with nurturing parents and minimum household changes.
- Protection from violence – from witnessing or being victimised by violence.
The brain injury that results from FASD is an information processing deficit – an inability to reason in the way that others do, and a distressing inability to fit in with the rules and behaviours required by society because of the damage to the corpus callosum.
The corpus callosum is the part of the brain that links the right-brain and the left-brain. The right-brain handles creativity, intuition and impulse and the left-brain handles the rules, logic, order and thoughts. When the two cannot link properly because of prenatal exposure to alcohol or a brain injury of some sort, then the person cannot always predict the outcome of his actions even though he knows and can repeat the ‘rules’. Most often, affected individuals are seen as lazy, unmotivated, disorganised, in denial, or dishonest.
Typical primary characteristics in children, adolescents, and adults:
- Memory problems
- Difficulty storing and retrieving information
- Inconsistent performance (‘on’ and ‘off’ days)
- Impulsivity, distractibility, disorganisation
- Ability to repeat instructions, but inability to put them into action
- Difficulty with abstractions, such as maths, money management, time concepts
- Cognitive processing deficits (may think more slowly)
- Slow auditory pace (may only understand every third word of normally paced conversation)
- Developmental lags (may act younger than chronological age)
- Inability to predict outcomes, or understand consequences, inability to show remorse
- Highly verbal
- Bright in some areas
- Artistic, musical, mechanical
- Friendly, outgoing and affectionate
- Determined, persistent
- Willing and helpful
- Good with younger children.
From my experience it seems difficult for an Australian health professional to identify and diagnose people with FASD even with a definite connection between alcohol and pregnancy, let alone when the mother is not an alcoholic and finds it hard to remember details of her pregnancy many years before. The possible consequences of a right or a wrong diagnosis would be devastating for the doctor, the individual and his or her family.
Therefore in order to provide adequately for affected Australians, diagnostic clinics should, at a minimum, be located in all capital cities in Australia and preferably also in many of the regional centres. Unfortunately, neither a blood test nor a simple medical examination, at this stage in research, will reveal the presence of FASD in an individual.
In October 2006, I was honoured to be present at the release of preliminary findings of a study by Susan Astley, Director of the FAS Diagnostic and Prevention Network at the University of Washington, and her colleagues, on research into whether Magnetic Resonance Imaging (MRI), Magnetic Resonance Spectroscopy (MRS) and Functional Magnetic Resonance Imaging (FMRI) can serve as non-invasive methods for definitively identifying global and/or focal brain damage in patients presenting with cognitive/behavioral dysfunction and prenatal alcohol exposure. The study compared children along the full continuum of FASD, including children with FAS and Partial FAS, to children with normal development and no prenatal alcohol exposure. The results will be published later in the year and will represent a huge leap forward in the diagnosis of this condition.
Links to related Australian sites
- Russell Family Fetal Alcohol Disorders Association
- Fetal Alcohol Syndrome: Support, Training, Advocacy, and Resources
- Fetal Alcohol and Drug Unit
Article reproduced with permission from Elizabeth Russell (2008)