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Fetal Alcohol Spectrum Disorder (FASD)
by Elizabeth Russell
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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:
o intellectual disability
o learning difficulties
o poor impulse control
o problems in social perception
o problems in memory, attention, reasoning and judgment; and
o 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
Common strengths
• Highly verbal
• Bright in some areas
• Artistic, musical, mechanical
• Athletic
• Friendly, outgoing and affectionate
• Determined, persistent
• Willing and helpful
• Generous
• Good with younger children.
Diagnosis
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:
Article reproduced with permission from Elizabeth Russell (2008)
Disclaimer
The
information contained on this website is of a general nature and is
designed for educational purposes only. The information is not meant
to replace the recommendations or advise of your midwife or doctor.
Please consult your midwife or doctor regarding your health care.
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