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5
                                                   Fetal alcohol
                                                   syndrome


Before you begin this unit, please take the        INTRODUCTION TO FETAL
corresponding test at the end of the book to
assess your knowledge of the subject matter. You   ALCOHOL SYNDROME
should redo the test after you’ve worked through
the unit, to evaluate what you have learned.
                                                   5-1 What is fetal alcohol syndrome?
                                                   Fetal alcohol syndrome (FAS) is a recognisable
 Objectives                                        clinical disorder which presents with clinical
                                                   features that include:
 When you have completed this unit you             1. Abnormalities in appearance.
 should be able to:                                2. Delayed growth and development.
 • Define fetal alcohol syndrome.                  3. Congenital malformations.
 • Understand that alcohol can damage              Fetal alcohol syndrome can often be recognised
   the fetus.                                      at birth although it is more easily recognisable
 • Recommend no alcohol intake during              in childhood. It is a typical example of a birth
                                                   defect caused by a teratogen.
   pregnancy.
 • List factors which influence the blood
   alcohol concentration.                           Fetal alcohol syndrome can often be recognised
 • Recognise an infant with fetal alcohol           at birth.
   syndrome.
                                                     NOTE  Fetal alcohol spectrum disorders
 • Understand their pattern of growth and            include alcohol-related birth defects,
   development.                                      alcohol-related neurodevelopmental
 • Plan the care of an infant with fetal             disorders and fetal alcohol syndrome, as
                                                     well as partial fetal alcohol syndrome.
   alcohol syndrome.
 • Understand the prevention of fetal
   alcohol syndrome.
84    BIR TH DEFECTS



5-2 What is the cause of fetal                           high population prevalence of fetal alcohol
alcohol syndrome?                                        syndrome. However, the research needed to
                                                         recognise the problem has not yet been done.
Drinking of alcohol by the mother during a
pregnancy. Fetal alcohol syndrome cannot
                                                       5-5 Which communities have a high
occur if a woman does not drink any alcohol
                                                       rate of fetal alcohol syndrome?
during her pregnancy or if she only drinks
alcohol before or after the pregnancy.                 Fetal alcohol syndrome is most frequent in
                                                       communities where poverty, low maternal
  NOTE Fetal alcohol syndrome is caused by             education, unemployment and heavy or binge
  exposure of the embryo and fetus to ethyl alcohol.   drinking are common.

 Fetal alcohol syndrome is caused by drinking
 alcohol during pregnancy.                             THE CAUSE OF FETAL
                                                       ALCOHOL SYNDROME
5-3 Can fetal alcohol
syndrome be inherited?
                                                       5-6 How can alcohol taken during
No. Fetal alcohol syndrome is not a genetically        pregnancy damage the fetus?
inherited condition. It is caused by alcohol,
i.e. a teratogen (something which damages              Alcohol is a poisonous substance (teratogen),
the fetus). However, there can be a number of          which, if drunk by the mother during
individuals with fetal alcohol syndrome in a           pregnancy crosses the placenta and can
family (e.g. mother and child, or siblings) due        interfere with the normal growth and
to the excessive use of alcohol in that family.        development of the embryo and fetus.
                                                       Both the amount (dosage) and the time
5-4 Is fetal alcohol syndrome common?                  (stage of pregnancy) that alcohol is drunk are
                                                       important. Alcohol is most damaging to the
While it is estimated that 1 in a 1000
                                                       embryo in the period of organ development
infants have fetal alcohol syndrome in most
                                                       between 17–6 days after conception, but also
industrialised countries (e.g. USA, UK, France,
                                                       harms the developing fetus from 6 days to
Sweden) there is concern that the rate of alcohol
                                                       delivery. The timing and amount of alcohol
abuse is increasing and some children with fetal
                                                       drunk will determine which organs are
alcohol syndrome are not being recognised.
                                                       damaged and the degree of damage.
In South Africa fetal alcohol syndrome is
                                                       A past history of heavy alcohol drinking in
common. In communities in the Western
                                                       a woman who does not drink during her
and Northern Cape provinces of South Africa
                                                       pregnancy cannot cause fetal alcohol syndrome.
the population prevalence of fetal alcohol
syndrome in children attending their first year
of school is more than 50 per 1000 children,           5-7 Does drinking alcohol during
i.e. 30 times commoner than Down syndrome.             pregnancy always damage the fetus?
This is one of the highest reported rates for fetal    No. Not all women who drink during
alcohol syndrome in a community in the world.          pregnancy have a child with fetal alcohol
In Soweto the incidence is 20/1000 children.           syndrome but the risk in South African
An estimated 1.4% of all South African infants         women who drink heavily during pregnancy is
are born with fetal alcohol syndrome.                  greater than 50 percent.

  NOTE Other developing countries where
  women abuse alcohol may also have a similarly
FETAL ALCOHOL SYNDROME        85


5-8 How much alcohol is needed                       5-11 How much alcohol is in one drink?
to damage the fetus?
                                                     One drink is defined as 15 ml of absolute
Any amount of alcohol that a woman drinks            alcohol which is equivalent to a glass of wine
during pregnancy may be harmful to her               (150 ml) or a can of beer (300 ml) or a tot of
fetus. The more alcohol she drinks, the              spirits (25 ml). A quart of beer (the largest
greater is the chance that she will have an          container commercially sold and measuring
infant with fetal alcohol syndrome.                  750 ml) is equivalent to 2.5 drinks and a
                                                     standard bottle of wine (750 ml) is the same
                                                     as five drinks. An estimate of what a person
 Even small amounts of alcohol are not safe          is drinking must be calculated from the
 during pregnancy.                                   history, taking care to understand what size of
                                                     container the woman is using.
One or two drinks a day is regarded as light
drinking, three to five drinks a day is moderate       NOTEBeer contains 5% alcohol, wine about
drinking while more than five drinks a day is          10% and spirits approximately 30–40%.
heavy drinking. Moderate or heavy drinking
may damage the fetus. However, any amount of         5-12 Are all alcoholic drinks
alcohol carries a risk of damaging the fetus. It     dangerous to the fetus?
is not known what mild effects may be caused
                                                     Yes. The risk of alcohol damaging the fetus
by light drinking as these are difficult to detect
                                                     depends on the amount of absolute alcohol
(e.g. a reduction in IQ or minor behaviour
                                                     taken and NOT the type of drink (e.g. whisky,
problems). A woman does not need be an
                                                     beer, homebrew and wine). There are no
alcoholic for her drinking to damage her fetus.
                                                     alcoholic drinks which are safe during
                                                     pregnancy.
5-9 What is binge drinking?
This is defined as drinking more than five
                                                      All forms of alcohol are dangerous during
alcoholic drinks at a single occasion. In many
South African communities, this is the usual
                                                      pregnancy.
way alcohol is taken and occurs mostly over
weekends. The risk of fetal alcohol syndrome         5-13 When is it most dangerous to
is particularly high with binge drinking             drink alcohol during pregnancy?
during pregnancy.
                                                     Drinking alcohol is most dangerous between
Chronic drinking refers to the pattern of            three and eight weeks of gestation (i.e. four to
drinking throughout the week.                        10 weeks after the last menstrual period), as
                                                     this may result in damage to the developing
5-10 Is it best not to drink alcohol                 organs of the embryo (malformations). The
at all during pregnancy?                             organs most at risk during this time are the
                                                     brain, heart, kidneys, eye, ear, palate and
Yes. It is best for women not to drink any           skeleton. Drinking alcohol during the first
alcohol during pregnancy.                            trimester may cause congenital malformations
                                                     of any of these organs.
 No amount of alcohol is considered safe during      Therefore, women should stop drinking
 pregnancy.                                          when they plan to fall pregnant, i.e. before
                                                     conception.
86    BIR TH DEFECTS



                                                     concentration in the fetus, as alcohol crosses
 Drinking alcohol is most dangerous during the
                                                     the placenta easily. The higher the fetal blood
 first trimester of pregnancy.
                                                     alcohol concentration, the greater is the risk of
                                                     damage to the fetus.
  NOTE Drinking alcohol between three and
  eight weeks after conception may cause
  malformations in the developing embryo.             The more alcohol a mother drinks, the greater is
  At this stage some women do not know                the risk of damage to her fetus.
  or are unsure they are pregnant.

                                                     Women who can drink a lot of alcohol before
5-14 Are there other periods
                                                     becoming drunk are at a particularly high
during pregnancy when alcohol
                                                     risk of having an infant with fetal alcohol
is dangerous to the fetus?
                                                     syndrome as their fetusses are exposed to very
Yes, alcohol is dangerous throughout                 high blood alcohol concentrations.
pregnancy. Even after 10 weeks of gestation,
alcohol can still harm the fetus even though it      5-16 What factors affect the blood
may not cause congenital malformations. Fetal        alcohol concentration?
brain and physical growth can be affected if
alcohol is drunk at any time during pregnancy.       Many factors affect the mother’s blood alcohol
If the mother only starts to drink after the first   concentration and, therefore, the blood
three months of pregnancy, the growth of the         alcohol concentration of the fetus:
fetal brain and body can be slowed causing           1. The amount of alcohol drunk (the volume
brain damage and intra-uterine growth                   and alcohol content of the drink).
restriction.                                         2. Time taken to drink the alcohol.
Therefore, there is no time during pregnancy         3. Maternal weight.
when it is safe for the mother to drink alcohol.     4. Food intake at the time of drinking.
                                                     5. Smoking and other drug abuse at the same
                                                        time as drinking alcohol.
 Women should stop drinking alcohol before           6. Genetic factors.
 they conceive, and not drink alcohol at any time    7. Maternal malnutrition.
 during pregnancy, to ensure that their unborn
 infants are not damaged by alcohol.                 5-17 How does the amount of alcohol
                                                     and the time taken to drink the alcohol
                                                     affect the blood alcohol concentration?
5-15 What other factors may alter the
risk of alcohol damaging the fetus?                  There is a direct relationship between the
                                                     amount of alcohol consumed, the time over
Drinking alcohol affects individuals differently.
                                                     which it was taken and the blood alcohol
Some individuals become drunk on small
                                                     concentration. The greater the amount of
amounts of alcohol while others are unaffected
                                                     alcohol drunk, and the shorter the time taken
by large volumes. The critical factor that
                                                     to drink the alcohol, the higher will be the
determines the effect of alcohol in a person
                                                     blood alcohol concentration.
is the level of alcohol in their blood, the so-
called blood alcohol concentration (BAC). An         Normally, one drink results in a blood
individual is more affected by a high blood          alcohol concentration in the range of
alcohol concentration than by a low blood            20–30 mg/% and then the alcohol is
alcohol concentration.                               completely broken down (metabolised) over
                                                     a period of two hours. After two drinks, the
A high maternal blood alcohol concentration
                                                     usual blood alcohol concentration is in the
also results in a high blood alcohol
FETAL ALCOHOL SYNDROME      87




               Blood alcohol concentration (mg/%)
                                                    100
                                                     90                                  Four drinks
                                                     80
                                                     70                                  Three drinks
                                                     60                                  Two drinks
                                                     50
                                                     40                                  One drink
                                                     30
                                                     20
                                                     10
                                                      0
                                                          1   2   3     4     5      6       7       8
                                                                        Hours
Figure 5-1: The blood alcohol concentration over eight hours after one to four drinks. The greater the number
of drinks, the higher the peak blood alcohol concentration and the longer it takes to return to nil


range of 40 to 50 mg/% and the alcohol is                             5-19 How does food intake affect
broken down in four hours, and so on.                                 the blood alcohol concentration?
                                                                      Food, especially carbohydrate foods such
 Drinking a lot of alcohol fast results in a high                     as bread, rice or maize products, reduces
 blood alcohol concentration.                                         the absorption of alcohol from the stomach
                                                                      after drinking. This keeps the blood alcohol
                                                                      concentration lower. Drinking without eating,
5-18 How does maternal weight affect                                  therefore, results in a higher blood alcohol
the blood alcohol concentration?                                      concentration.
Each drink results in a higher blood alcohol
concentration in women with a low weight                              5-20 How does smoking and
than in women who weigh more. Heavier                                 other drug abuse affect the blood
women, therefore, can usually drink more                              alcohol concentration?
than light women before they become drunk.
                                                                      When smoking cigarettes and drinking occur
  NOTE A mother’s weight is related to the
                                                                      together, a higher blood alcohol concentration
  amount of water in her body (her total body                         can be expected than when the same amount
  water). The volume of alcohol drunk passes                          of alcohol is taken alone. Similarly, smoking
  into all the body water within 20 minutes. A                        marijuana (dagga) or taking other drugs
  large or heavy person has a large amount of                         together with alcohol also raises the blood
  body water and this dilutes the alcohol and                         alcohol concentration. Therefore, the risk of
  reduces the blood alcohol concentration. The                        fetal alcohol syndrome is higher if a woman
  reverse is true for a small individual who has
                                                                      both drinks alcohol and abuses other drugs
  less body water to dilute the alcohol, resulting
  in a higher blood alcohol concentration.                            during pregnancy.
                                                                      All smoking during pregnancy is strongly
                                                                      contra-indicated as smoking alone may cause
                                                                      poor fetal growth and be a factor in causing
                                                                      such defects as cleft-lip and cleft palate.
88   BIR TH DEFECTS



5-21 How do genetic factors affect                   are important in the breakdown of alcohol in
the blood alcohol concentration?                     the liver, and deficiencies of iron or zinc may,
                                                     therefore, result in a higher blood alcohol
Alcohol is broken down in the liver by
                                                     concentration.
enzymes. These enzymes occur in two forms.
They may either break down alcohol fast or
slowly. Fast-acting enzymes, which break              A higher blood alcohol concentration is expected
down alcohol rapidly, result in a lower than          in women who are underweight, smoke and do
expected blood alcohol concentration for              not eat when they drink.
the amount of alcohol taken. The opposite is
true for the slow-acting form of the enzymes
which break down alcohol slowly resulting            5-23 Does maternal age affect the
in a higher than expected blood alcohol              risk of fetal alcohol syndrome?
concentration. The rate at which a mother’s          Heavy drinking during pregnancy at any
liver breaks down alcohol is determined by           age may cause fetal alcohol syndrome.
whether she has inherited fast- or slow-acting       However, drinkers tend to drink more as
enzymes from her parents. Although fetal             they get older and, therefore, the risk of fetal
alcohol syndrome is not an inherited defect,         alcohol syndrome increases with maternal
individuals with slow-acting enzymes are at          age. Maternal nutrition, poverty and general
an increased risk of having an infant with fetal     health also tend to become worse over time
alcohol syndrome.                                    in heavy drinkers.

  NOTE Two separate enzymes are involved with        This may explain why older mothers may give
  metabolising alcohol. The first-step enzyme        birth to an infant with fetal alcohol syndrome
  breaks alcohol down to acetaldehyde while the      even if they delivered normal infants when
  second-step enzyme breaks down acetaldehyde        they were young.
  to carbon dioxide and water. A rapid first-
  step enzyme followed by a slow second-step
  enzyme may result in high concentrations
  of acetaldehyde, which causes nausea in            RECOGNISING INFANTS
  the person who is drinking. Due to these           WITH FETAL ALCOHOL
  unpleasant side effects, this usually results in
  smaller amounts of alcohol being drunk by          SYNDROME
  the person with this combination of enzymes.
  As a result, they usually have a lower blood
  alcohol concentration. Antabuse, the drug          5-24 What are the major features
  used to stop alcoholics from drinking, uses this   of fetal alcohol syndrome?
  mechanism by interfering with the second-
  step enzyme (slowing it) to produce nausea         1. A history of the mother drinking heavily
  and vomiting in a person who ‘sneaks’ a drink.        during pregnancy.
                                                     2. Microcephaly and low birth weight.
5-22 How does maternal malnutrition                  3. Characteristic facial features.
affect the blood alcohol concentration?              4. Slower growth than expected, both before
                                                        and after delivery.
Maternal undernutrition usually results in an        5. Developmental delay, intellectual disability
individual with a low body weight. As a result,         and behaviour problems.
these women tend to have a higher blood              6. Congenital malformations.
alcohol concentration than a heavier woman
who has drunk the same amount. Also, certain
trace elements and minerals, such as iron and
zinc, may be at lower than normal levels in a
malnourished person. Both of these minerals
FETAL ALCOHOL SYNDROME        89


          Discriminating features                                            Associated features


                                                                                  Epicanthal folds

         Short palpebral fissures

                                                                                 Low nasal bridge

          Flat midface

          Short nose
                                                                          Minor ear abnormalities
          Indistinct philtrum

          Thin upper lip                                                             Micrognathia


Figure 5-2: The typical facial features of fetal alcohol syndrome


5-25 Can infants with fetal alcohol                       5-26 At what age is it easiest to
syndrome be recognised at birth?                          diagnose fetal alcohol syndrome?
Yes. Infants with fetal alcohol syndrome can              Although the condition can be recognised
often be recognised at birth as they have                 at birth, the clinical features of fetal alcohol
typical facial features. The nurse or doctor              syndrome often become more obvious when
delivering the infant, or examining the infant            the children are between three and 10 years of
after birth, can recognise the condition.                 age. Therefore, many of these children are only
Infants with fetal alcohol syndrome are often             diagnosed in childhood.
jittery, irritable and appear anxious after
delivery. If the mother drank throughout the              5-27 What are the characteristic facial
pregnancy, this abnormal behaviour could be               appeances of a newborn infant and
due to the sudden withdrawal of alcohol to the            child with fetal alcohol syndrome?
infant after delivery.
                                                          The most important facial signs are:
Fetal alcohol syndrome should always be
expected if the mother gives a history of heavy           1. Narrow (short) palpebral fissures
drinking during pregnancy. However, when                     (distance between the inner and outer
mothers are not suspected of heavy drinking                  corner of the eye).
in pregnancy, the diagnosis of fetal alcohol              2. A narrow pink border (vermillion border)
syndrome may be missed.                                      of the upper lip (the visible pink part of the
                                                             upper lip, i.e. the area where a woman puts
If the doctor is not sure whether the infant has             her lipstick).
fetal alcohol syndrome, the infant’s growth               3. Long, smooth upper lip with no vertical
and development should be monitored before                   ridge (philtrum) between the nose and
confirming the diagnosis. It is important                    the lip.
to be sure of the diagnosis before labelling
an infant as having fetal alcohol syndrome.               Other less common signs include:
It is therefore important to refer the infant             1. Flattened nasal bridge with epicanthic
for further follow-up, e.g. developmental                    folds.
assessment at a later stage.                              2. Short upturned nose.
90    BIR TH DEFECTS



3. Small chin (micrognathia).                      With increasing age the flattening of the bridge
4. Deep creases down both sides of the             of the nose fills out and becomes less noticeable
   mouth when the infant cries.                    while the nose and jaw become longer. If the
5. Flattened cheekbones.                           face of an adolescent or adult with fetal alcohol
                                                   syndrome is viewed from the side, there is
  NOTE A formal scoring system can be used
                                                   blunting of the tip of the nose, a long upper lip
  to include all dysmorphic features present.
  The higher the score the more likely the
                                                   and characteristic jutting shape to the jaw.
  diagnosis of fetal alcohol sysndrome             Experience is needed to notice these features.
  or partial fetal alcohol syndrome.

  NOTE Other features of FAS include, ptosis
                                                   5-30 May the pattern of drinking during
  (droopy eyelid), abnormally shaped teeth, a      pregnancy affect the facial appearance of
  low hairline over the forehead and nape of the   the infant with fetal alcohol syndrome?
  neck (hirsutism), and minor ear abnormalities.   Yes. If the mother drinks heavily throughout
  They may also have a cleft palate.
                                                   her pregnancy, but especially between four
                                                   and 10 weeks of gestation, the characteristic
5-28 Why do infants with fetal                     facial appearance will be present. However, if
alcohol syndrome all look alike?                   the mother only drinks after the first 10 weeks
Most facial features of fetal alcohol syndrome     of pregnancy, her infant may have a normal
are due to poor development of the mid-            face. A confident diagnosis of fetal alcohol
face, giving the typical appearance. The           syndrome then becomes very difficult.
short upturned nose, long smooth upper
lip without a philtrum, narrow pink border          If a woman drinks heavily between four and 10
of the upper lip and small chin are due to
                                                    weeks of pregnancy, her infant will be at high
underdevelopment of the middle of the face.
                                                    risk of having the characteristic facial appearance
The philtrum consisting of two narrow ridges        of fetal alcohol syndrome.
which normal infants have running from the
base of their nose to the centre of the upper
lip. This is often missing or smooth in infants    5-31 Do infants with fetal alcohol
with fetal alcohol syndrome.                       syndrome have small eyes?

When infants with fetal alcohol syndrome           Their eyes are usually of a normal size.
cry, the pink part of the upper lip becomes        However, their eyes appear small because they
stretched and thin. They also often have deep      have narrow palpebral fissures (the distance
creases down both sides of their mouth which       between the inner and outer corners of the eye).
are not seen when the infant is not crying. Most
                                                     NOTE  Recent studies suggest that children with
of the facial features of fetal alcohol syndrome     fetal alcohol syndrome do have smaller eyes
are more obvious when the infant cries.              than normal as part of their microcephaly.

5-29 Do the facial features of fetal               5-32 How can the length of the
alcohol syndrome change with age?                  palpebral fissures be measured?
Yes. The facial features do change with age,       The length of the palpebral fissure can be
and the most useful time to recognise them is      measured with a ruler. However, this requires
between three and 10 years. Before and after       special training and is usually only done at a
this time the typical features are less obvious.   genetic clinic. It is easier done in older children.
After 10 years the facial features appear more
normal although the palpebral fissures and
ptosis remain for life.
FETAL ALCOHOL SYNDROME           91


GROWTH AND                                           Children with fetal alcohol syndrome are short
DEVELOPMENT IN                                       with small heads.
INFANTS WITH FETAL
                                                    5-35 What is the effect of alcohol on
ALCOHOL SYNDROME                                    brain growth and devepment?
                                                    Head circumference is a good measure of
5-33 What is the pattern of growth                  brain size and is often used to assess brain
deficiency in newborn infants who                   growth. Slow brain growth results in slow head
have fetal alcohol syndrome?                        growth. This can be demonstrated in the fetus
                                                    with serial antenatal ultrasound scans. After
Growth deficiency begins with the fetus and         delivery, slow brain growth can be recorded by
can be measured by serial antenatal ultrasound      measuring head circumference with a tape and
scans throughout pregnancy. As a result, these      plotting it on a centile chart.
infants often have a low birth weight (weigh
less than 2500 g at birth). Usually their weight,   Heavy drinking during pregnancy will slow
length and head circumference at birth all fall     down brain growth. Depending on the
below the 10th centile for gestational age. They    amount and timing, alcohol abuse can result in
are, therefore, underweight and short for their     microcephaly. As well as reducing brain growth,
gestational age (stunted) with small heads.         alcohol also damages the brain, especially
Infants with fetal alcohol syndrome often have      when alcohol is drunk in the first trimester.
a head circumference which is lower than            Deficient growth and structural damage to the
their weight or length on the centile charts        developing brain have serious consequences for
(microcephaly).                                     the intelligence and behaviour of people with
                                                    fetal alcohol syndrome.

 Infants with fetal alcohol syndrome are growth
 restricted at birth.                                Drinking alcohol during pregnancy can restrict
                                                     fetal brain growth and development.
5-34 What are the typical growth
problems seen in older children                     5-36 Are all people with fetal alcohol
with fetal alcohol syndrome?                        syndrome intellectually disabled?

Usually the infant’s weight, length and             Yes. All people with fetal alcohol syndrome
head circumference remain below the 10th            are intellectually disabled with an average
percentile. This pattern of slow growth             intelligence (IQ) of 60–70, which is in the
continues in the infant after delivery, even        mild intellectual disability range (average IQ
if the child receives a good diet. As a result,     in normal people is 100). Worldwide, fetal
mothers of children with fetal alcohol              alcohol syndrome is one of the most common
syndrome are often accused of not feeding           preventable causes of intellectual disability.
their children properly.                            Infants and children with fetal alcohol
Both head circumference and length (height)         syndrome are developmentally delayed. Their
remain less than expected throughout                motor milestones are often slow and their
childhood and adolescence, resulting in short       motor coordination poor. They also have
adult stature with a small head. The increase       learning and behaviour problems.
in body weight is also slow although girls may
become obese at puberty. Boys tend to remain
underweight into adulthood.
92    BIR TH DEFECTS



                                                    2. Problems from an early age integrating
 Fetal alcohol syndrome is one of the common
                                                       into society. Stealing, lying, aggression
 preventable causes of intellectual disability
                                                       and other abnormal activities are
 world wide.                                           common. These children are often easily
                                                       influenced by others to take part in anti-
5-37 What language problems are common                 social (e.g. alcohol and drug abuse) and
in children with fetal alcohol syndrome?               criminal activities. They often suffer from
                                                       anxiety and low self-esteem and have
Children with fetal alcohol syndrome have
                                                       difficulty finding employment as adults.
delayed language development. However,
                                                       Children with fetal alcohol syndrome
once they learn to speak, they are often very
                                                       often become ‘street children’.
talkative although the content is very simple
and sentence construction poor.                     Social development is seriously affected by the
                                                    behaviour abnormalities, even if these children
Hearing loss or deafness, and cleft lip or
                                                    are placed in stable homes.
palate can worsen speech problems. These can
also affect the rate of acquiring speech and          NOTE  Poor concentration and hyperactivity
pronunciation. Hearing loss or deafness may           in children are also known as attention
be due to recurrent ear infections, fluid behind      deficit, hyperactivity disorder (ADHD).
the eardrums (chronic serous otitis media) or
congenital deafness due to nerve damage.            5-39 What learning problems are common
                                                    in children with fetal alcohol syndrome?
5-38 What behaviour problems
                                                    Most children with fetal alcohol syndrome
are common in children with
                                                    have general learning problems, especially
fetal alcohol syndrome?
                                                    with language, reading, writing, arithmetic
Behaviour problems are very common.                 and problem solving. Failing at school is
Infants are often irritable, cry a lot and          common. The poor home environment also
have feeding difficulties. This may affect the      adds to the learning and behaviour problems
mother–infant relationship and increases the        as does attention deficit disorder.
risk of physical abuse.
Children with fetal alcohol syndrome                 Children with fetal alcohol syndrome have
commonly:                                            serious life long physical, emotional, intellectual
1. Have sleeping problems.                           and behaviour problems.
2. Are unable to learn from past mistakes.
3. Have a lack of sense of danger.                  5-40 What is alcohol-related
4. Have poor concentration (attention deficit       neurodevelopmental disorder?
   disorder).
5. Are hyperactive.                                 Children who are exposed to alcohol only
6. Have poor memory.                                after the first trimester do not suffer the
                                                    serious effects of alcohol on developing
These behavioural abnormalities result in           organs. They do not have the typical fetal
children with fetal alcohol syndrome having:        alcohol face and congenital malformations.
1. School learning problems. The                    However, alcohol later in pregnancy still has
   behaviour problems, especially the poor          harmful effects on brain and body growth
   concentration and hyperactivity associated       resulting in microcephaly and stunting. These
   with intellectual disability, result in school   children are classified as Alcohol-Related
   failure and the need for special education.      Neurodevelopmental Disorder or Alcohol-
                                                    Related Neurological Defect or (ARND) and
                                                    not Fetal Alcohol Syndrome. Because they do
FETAL ALCOHOL SYNDROME        93


not have the typical facial features, they may       CARE OF CHILDREN
be difficult to diagnose.
                                                     WITH FETAL ALCOHOL
5-41 What congenital malformations are               SYNDROME AND
associated with fetal alcohol syndrome?
                                                     THEIR FAMILIES
The following malformations are associated
with fetal alcohol syndrome:
                                                     5-43 What care is available for people
1. Congenital heart defects. This is the
                                                     with fetal alcohol syndrome?
   commonest associated malformation. The
   defect seen most often is ventricular septal      People with fetal alcohol syndrome, as with
   defect (VSD) followed by atrial septal            all people with congenital disability, should be
   defect (ASD).                                     offered the ‘best possible patient care’ available.
2. Skeletal abnormalities. These include             This includes care of their medical problems
   radio-ulnar synostosis (bony fusion of the        and meeting their special needs:
   two bones seen on X-ray in older children
                                                     1. It is important to make and confirm the
   and adults), neural tube defects, vertebral
                                                        diagnosis of fetal alcohol syndrome as
   abnormalities, abnormal fingers (4th and
                                                        early as possible. This allows for early
   5th), and pectus excavatum (funnel chest).
                                                        counselling to inform parents about
3. Cleft lip and palate. Usually only a cleft
                                                        the disorder and available treatment,
   palate is present. This is not common.
                                                        and helps them come to terms with the
   Therefore examination of the palate with
                                                        many problems and to emotionally bond
   a torch and spatula is necessary if the
                                                        with their child. It also allows for an
   diagnosis of fetal alcohol syndrome is
                                                        early start to treatment and intervention
   suspected.
                                                        programmes. This will ensure the best
                                                        long-term outcome for the person’s health,
5-42 Is there a test for fetal                          development and intellectual ability.
alcohol syndrome?                                    2. Newborns should be kept warm and
Unfortunately there is no specific biological test      fed early to prevent hypoglycaemia and
for fetal alcohol syndrome. Therefore, a blood          hypothermia caused by their intra-uterine
test cannot be used to screen children for this         growth restriction.
disorder. It is a clinical diagnosis based on a      3. Ear infections are common. They should
careful general examination plus a history of the       be diagnosed early and treated correctly
mother taking alcohol during pregnancy and              with antibiotics.
a neurodevelopmental assessment. Great care          4. Behaviour problems should be managed.
must be taken in making the correct diagnosis           This is a specialised area of treatment and
as it has serious implications for the person           people with fetal alcohol syndrome should
with fetal alcohol syndrome and the family.             be referred to special units if possible.
                                                     5. Children with congenital heart defects may
                                                        need to be treated for heart failure.
                                                     6. Surgical repair for congenital heart defects
                                                        may be needed. Infants and children,
                                                        suspected of having congenital heart defects,
                                                        should be sent for cardiac assessment.
                                                     7. Other congenital malformations such
                                                        as cleft lip or palate will need surgical
                                                        correction.
94    BIR TH DEFECTS



                                                  5-45 Should children with fetal
 People with fetal alcohol syndrome, like all
                                                  alcohol syndrome go to school?
 people with disability, should get the best
 possible care available for them.                All children with fetal alcohol syndrome
                                                  should have the opportunity of going to
                                                  school, despite the fact that they will have
5-44 How should developmental and
                                                  school learning problems. In South Africa at
behavioural problems be managed?
                                                  present, the Department of Education’s policy
These children should be offered                  is ‘inclusive’ education for children with mild
neurodevelopmental therapy and community-         intellectual disability. The aim of the policy is
based rehabilitation. Infants and children        to allow disabled children to attend normal
with fetal alcohol syndrome develop slowly,       schools where they will be integrated into
are intellectually disabled and have behaviour    the education programme to the greatest
problems. Their successful integration into       extent possible, but will also have available the
society, including schooling and finding          specialised attention they need. Because of
employment, is difficult and will be greatly      their behaviour problems it may be necessary
improved by early diagnosis and intervention.     for the caregivers to work together with the
This includes:                                    school on the child’s educational management.
                                                  The other option is for these children to go to a
1. Physiotherapy to assist those infants with
                                                  school for the intellectually disabled. There are
   slow motor milestones to achieve their
                                                  a few of these special schools in South Africa.
   motor milestones faster.
2. Hearing assessment (audiology) and
   speech therapy. Infants and children with      5-46 Should infants with fetal
   fetal alcohol syndrome have delayed speech     alcohol syndrome be breastfed?
   development and this may be worsened by        Yes. However, alcohol crosses into the breast
   hearing loss from recurrent ear infections     milk in small amounts. Therefore, the mother
   or congenital auditory (hearing) nerve         should be encouraged not to drink alcohol
   damage. Hearing must be checked if             during the period that she is breastfeeding.
   deafness is suspected. Speech therapy helps    Emotional bonding and infant nutrition can
   them to develop better speech faster.          be improved with breastfeeding, especially
3. Occupational therapy. Fine motor co-           when the home economic conditions are poor.
   ordination and personal and social
   development can be improved by an              5-47 What counselling is needed
   occupational therapist.                        by parents who have a child with
Neurodevelopmental therapy in all its forms       fetal alcohol syndrome?
is available in major centres. However, in less   Counselling is a major part of the care of
resourced rural and urban regions, this may       people with fetal alcohol syndrome and their
only be available in the form of community-       family, especially the parents. The parents need
based rehabilitation. In South Africa,            to be educated and informed about:
community-based rehabilitation for infants
and children with disability can be assisted      1. The diagnosis.
by the use of a locally produced stimulation      2. The cause of fetal alcohol syndrome.
program called START.                             3. The clinical features, complications and
                                                     prognosis of fetal alcohol syndrome, and
Information on START can be obtained from:           the treatment available.
Sunshine Centre, P O Box 41167, Craighall,        4. The risk for parents with a child with fetal
2024. Telephone 011 642 2005.                        alcohol syndrome having another child
                                                     with fetal alcohol syndrome in future
                                                     pregnancies. The risk can be eliminated if
FETAL ALCOHOL SYNDROME         95


    the mother does not drink alcohol during            using contraception until such time as they can
    all future pregnancies. If possible, she            reduce or stop drinking alcohol
    should stop drinking alcohol completely.
                                                        In the long term, educating the whole
The parents, family and child with fetal                community about the dangers of drinking
alcohol syndrome need to be offered on-going            may be the best approach to preventing
psychosocial support as with all individuals            fetal alcohol syndrome. FARR is currently
who have a congenital disability. They suffer           undertaking research and conducting
lifelong problems which require lifelong care           intervention programmes in various
including support. The burden of the disorder           communities in South Africa focusing on the
is experienced not only by the affected person,         support of pregnant women and community
but also the family, especially parents, brothers       development and support.
and sisters. Support, help, reassurance and care
in these circumstances may be obtained from:              NOTE Many alcoholic drinks have a health warning
                                                          on the label but it is uncertain whether this
1. Doctors, nurses (especially nursing staff              reduces the risk of fetal alcohol syndrome.
   trained in genetics), genetic counsellors
   and neurodevelopmental therapists.
2. Teachers in special schools for the                   Every effort must be made to stop women
   intellectually disabled.                              drinking alcohol during pregnancy to prevent
3. Social workers.                                       fetal alcohol syndrome.
4. The Foundation for Alcohol-Related
   Research (FARR). This non-governmental               5-49 How can you identify women
   organisation plays a role in South Africa            at risk of delivering an infant
   in advocacy, patient and parent support,             with fetal alcohol syndrome?
   and educating the public, medical and
   paramedical professions, social workers              The following factors are associated with
   and educators.                                       women at high risk:
Contact details for FARR, 37 Thornhill Road,            1. A previous child with fetal alcohol
Rondebosch, 7700 (Cape Town), South Africa.                syndrome. This is the most important risk
Telephone: 021 686 2645/46/47 and fax -21                  factor.
685 7034 e-mail: info@farrsa.org.za                     2. A previous child with developmental
                                                           delays and a suspected history of maternal
Internet: www.farr-sa.org.za                               drinking during pregnancy.
                                                        3. Women who admit to heavy drinking.
5-48 Can fetal alcohol                                  4. Women with a husband or partner who
syndrome be prevented?                                     drinks heavily.
The answer is theoretically yes if the woman            5. Women from a community or household
does not drink any alcohol when pregnant. The              where alcohol is abused.
reality is different. It is very difficult to prevent   6. A high suspicion that the woman drinks
alcohol consumption in all women who may                   heavily.
fall pregnant. It is also difficult to persuade         All women must be asked about these risk
heavy drinkers not to drink. However, there             factors when they book for antenatal care.
has been some success in reducing or stopping           Mothers should also be asked about these risk
drinking in women who have previously                   factors if their child is suspected of having fetal
had a child with fetal alcohol syndrome. The            alcohol syndrome. It is important not to be
alternative is to try and persuade women, who           judgemental when taking a history of alcohol
are at risk, to delay becoming pregnant by              intake. The amount and frequency of alcohol
                                                        drunk should be established.
96    BIR TH DEFECTS



5-50 How should women at risk                        3. Do two normal children indicate
of delivering an infant with fetal                   that she has no risk of damaging
alcohol syndrome be managed?                         this fetus with alcohol?
1. They must be informed of the risk to her          No. Many women who drink a lot of
   unborn infant.                                    alcohol tend to drink even more as they get
2. They should be provided with the                  older. Therefore their later children are at a
   information needed to make an informed            particularly high risk of fetal alcohol syndrome.
   decision about her drinking, i.e. counselled.
3. They should be referred to the appropriate        4. Would the fetus be safe if the mother
   facilities or resources in the community          only drank in the second half of pregnancy?
   where she can obtain help and support,
   e.g. social services, churches, women’s           Alcohol in pregnancy is more dangerous in
   groups, schools, employers and                    the first 10 weeks after the last menstrual
   community workers.                                period when the fetal organs are still forming.
4. Women who are trying to stop abusing              Heavy drinking during early pregnancy
   alcohol need the support of the whole             may, therefore, result in brain damage and
   community.                                        congenital malformations. However, drinking
                                                     in later pregnancy may still interfere with
                                                     the growth and brain development of the
 Preventing fetal alcohol syndrome is firstly a      fetus. Some infants exposed to alcohol only
 community issue, but also a national concern.       late in pregnancy appear normal at delivery
                                                     but still have brain damage (alcohol-related
                                                     neurodevelopmental disorders or alcohol-
CASE STUDY 1                                         related neurological deficit). Therefore alcohol
                                                     is dangerous at any time during pregnancy.
A mother of two normal children drinks
heavily throughout her pregnancy. She tells her      5. Is it safe for a mother who drinks
friends that fetal alcohol syndrome is rare and      heavily to breastfeed her infant?
is inherited. Because her children are healthy       As small amounts of alcohol cross into the
she believes that there is no danger to her fetus.   breast milk, it is best if a mother does not drink
                                                     alcohol during the weeks and months that she
1. How common is fetal alcohol syndrome?             is breastfeeding. However, alcohol in breast
                                                     milk will not cause fetal alcohol syndrome.
Although it is believed to be rare in
industrialised countries (one in 1000 births) it
is common in South Africa, especially in poor
communities where more than 50 per 1000
                                                     CASE STUDY 2
infants may be affected.
                                                     A young, thin woman who is pregnant with
                                                     her first child goes to a party one Saturday
2. Is fetal alcohol syndrome inherited?
                                                     evening with her boyfriend and gets very
No. However, the rate at which alcohol               drunk. They both drink five 300 ml cans of
is broken down in the body is inherited.             beers in less than an hour. She also smokes a
Therefore, women who inherit a slow rate of          few cigarettes and has very little to eat.
breaking down alcohol are at an increased risk
of a damaged fetus as they have higher blood
concentrations of alcohol if they drink.
FETAL ALCOHOL SYNDROME         97


1. Is it dangerous if she only drinks                CASE STUDY 3
heavily once during her pregnancy?
Taking a lot of alcohol even once during             A midwife notices that a newborn infant has
pregnancy is dangerous to a fetus. Binge             a strange facial appearance. The infant weighs
drinking like this can severely damage a fetus,      less than 2500 g at birth and the head appears
especially in the first trimester.                   particularly small. The mother admits to
                                                     drinking heavily throughout her pregnancy.
2. How much alcohol is safe for a
pregnant woman to drink?                             1. What is the typical appearance of the
                                                     face in infants with fetal alcohol syndrome?
Any amount of alcohol carries a risk of fetal
damage. It is best to drink no alcohol during        They have short palpebral fissures and a long
pregnancy.                                           smooth upper lip without a philtrum. There
                                                     are also deep creases down both sides of the
3. Does it matter how fast                           mouth and not much pink upper lip to be
the alcohol is drunk?                                seen, especially when the infant cries. Most of
                                                     these, and other facial features of fetal alcohol
The greater the amount of alcohol and the            syndrome, are due to poor growth of the
faster it is drunk, the higher will be the blood     central part of the face.
alcohol concentration. The higher the blood
alcohol concentration, the greater the risk of
                                                     2. What is the size at birth of most infants
damage to the fetus.
                                                     born with fetal alcohol syndrome?

4. How can one determine how many                    Most have a low birth weight (less than
drinks there are in five 300 ml cans of beer?        2500 g). Their weight, length and especially
                                                     head circumference measurements are
One drink is equal to one 300 ml can of beer,        less than expected for their gestational age
one 150 ml glass of wine or a 25 ml tot of           (less than the 10th centile). The small head
spirits. One drink contains 15 ml of absolute        indicates that the infant’s brain has been
alcohol. Therefore five beers are equivalent to      growing slowly during pregnancy.
five drinks (or 75 ml alcohol). This is a large
amount of alcohol.
                                                     3. How may the pattern of drinking
                                                     during pregnancy affect the
5. Are some types of alcohol less                    appearance of the infant?
dangerous to the fetus than others?
                                                     The facial abnormalities are most marked if
No. The risk to the fetus depends on the             the mother drinks heavily during the first
amount of alcohol not on the type of drink,          months of pregnancy (four to 10 weeks after
e.g. beer, wine or spirits.                          the last menstrual period).

6. What other factors may have influenced            4. At what age is the appearance of fetal
her blood alcohol concentration?                     alcohol syndrome most easy to recognise?
She is thin (and probably does not weigh very        Although these infants can be recognised
much), smokes and has little to eat. These           at birth, their abnormal appearance is most
factors will all result in a relatively high blood   marked between three and 10 years of age.
alcohol concentration.                               Most infants with fetal alcohol syndrome look
                                                     similar, and with experience can be recognised.
98    BIR TH DEFECTS



5. What congenital malformations                    3. What is the average intelligence of
can be caused by heavy drinking                     children with fetal alcohol syndrome?
during pregnancy?
                                                    Most have a low IQ (intelligence quotient) of
Excessive alcohol intake during pregnancy not       60 to 70. This puts them in the range of mildly
only damages the growth and development             intellectually disabled. Fetal alcohol syndrome
of the fetus but can also cause congenital          is one of the most common preventable causes
malformations, especially of the heart              of intellectual disability.
(ventricular and atrial septal defects), skeleton
and palate.                                         4. What language difficulties
                                                    occur in these children?
6. Is there a blood or other test
                                                    They have delayed language development,
that can prove the diagnosis of
                                                    i.e. they learn to talk later than normal.
fetal alcohol syndrome?
                                                    However, once they are able to speak, they
No. The diagnosis is based on the mother’s          tend to be very talkative, using simple poorly
history of drinking alcohol during pregnancy,       constructed sentences.
a clinical diagnosis based on specific clinical
signs in the infant and a neurodevelopmental        5. Are behaviour problems common
assessment. There is no specific biological test    in fetal alcohol syndrome?
for fetal alcohol syndrome.
                                                    Yes, behaviour problems are common. Young
                                                    infants with fetal alcohol syndrome are
                                                    irritable and cry a lot which often affects the
CASE STUDY 4                                        mother–infant relationship and can result in
                                                    child abuse. Older children are hyperactive
A 10-year-old child with fetal alcohol syndrome     with poor concentration (attention deficit).
is having major schooling problems. The             Anti-social behaviour with lying, stealing and
teacher complains of bad behaviour. The child       aggression may lead to criminal acts.
is not able to keep up with the other normal
children in the class and does not pay attention.
                                                    6. Should a child with fetal alcohol
                                                    syndrome go to a normal school?
1. Why do children with fetal alcohol
syndrome often fail at school?                      All children with fetal alcohol syndrome should
                                                    go to school and, if possible, attend a normal
All children with fetal alcohol syndrome have       school. As most of these children have mild
reduced intelligence and learning difficulties      intellectual disability they will need extra help.
and, therefore, failing at school is common.        Some more seriously impaired children may
The main problem is brain damage caused             need to go to a special school, if it is available.
by exposure to alcohol during pregnancy.
In addition, there are often many social
problems at home.
                                                    CASE STUDY 5
2. What learning problems are common?
                                                    Parents of a very difficult child with fetal
Children with fetal alcohol syndrome have           alcohol syndrome visit a local clinic for help
particular problems with language, reading,         and advice. They want to know what can be
writing, arithmetic and problem solving. It is,     done to help them care for the child. They
therefore, not surprising that they often fail      also ask about the risks of having another
at school.                                          child with fetal alcohol syndrome as they still
                                                    drink heavily.
FETAL ALCOHOL SYNDROME       99


1. What care is available for children             a history or suspicion of heavy drinking
with fetal alcohol syndrome?                       from the woman, her partner or the local
                                                   community is also associated with an
Parents of a child with fetal alcohol syndrome
                                                   increased risk. This should always form part of
need a lot of help and psychosocial support.
                                                   the history taken at an antenatal clinic.
Neurodevelopmental therapy is important and
includes physiotherapy, hearing assessment
and speech therapy, and occupational therapy.      4. Can fetal alcohol syndrome
Doctors, nurses, teachers and social workers all   be prevented?
have a role to play. Comprehensive care can be     Yes. Do not drink any alcohol throughout
offered in special units in most larger centres    pregnancy. This is not easy for a woman who
in South Africa. Hospital and community-           drinks heavily. Perhaps her best option, if
based services to provide neurodevelopmental       she cannot stop drinking, is to delay having
therapy and stimulation programmes are             further pregnancies, by using contraception.
becoming available in other regions. Local
support groups can be of great help.               5. How should this woman be helped?

2. Do children with fetal alcohol syndrome         She must be advised about the risk of damage
need special medical treatment?                    to her unborn child if she drinks during
                                                   pregnancy, and be given the information she
Ear infections are common and need to be           needs to make an informed decision about
diagnosed and treated early. Congenital            her drinking. Both parents should be referred
malformations such as heart defects and cleft      to a local resource in the community such as
palate will need correct treatment.                a social worker, church group or community
                                                   worker. People can stop drinking but they
3. What factors identify a women                   need the help and support of the whole
at risk of having another child                    community if they are to succeed.
with fetal alcohol syndrome?
The most important risk factor is a previous
child with fetal alcohol syndrome. However,

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Fetal Alcohol Syndrome: Understanding Causes and Prevention

  • 1. 5 Fetal alcohol syndrome Before you begin this unit, please take the INTRODUCTION TO FETAL corresponding test at the end of the book to assess your knowledge of the subject matter. You ALCOHOL SYNDROME should redo the test after you’ve worked through the unit, to evaluate what you have learned. 5-1 What is fetal alcohol syndrome? Fetal alcohol syndrome (FAS) is a recognisable Objectives clinical disorder which presents with clinical features that include: When you have completed this unit you 1. Abnormalities in appearance. should be able to: 2. Delayed growth and development. • Define fetal alcohol syndrome. 3. Congenital malformations. • Understand that alcohol can damage Fetal alcohol syndrome can often be recognised the fetus. at birth although it is more easily recognisable • Recommend no alcohol intake during in childhood. It is a typical example of a birth defect caused by a teratogen. pregnancy. • List factors which influence the blood alcohol concentration. Fetal alcohol syndrome can often be recognised • Recognise an infant with fetal alcohol at birth. syndrome. NOTE Fetal alcohol spectrum disorders • Understand their pattern of growth and include alcohol-related birth defects, development. alcohol-related neurodevelopmental • Plan the care of an infant with fetal disorders and fetal alcohol syndrome, as well as partial fetal alcohol syndrome. alcohol syndrome. • Understand the prevention of fetal alcohol syndrome.
  • 2. 84 BIR TH DEFECTS 5-2 What is the cause of fetal high population prevalence of fetal alcohol alcohol syndrome? syndrome. However, the research needed to recognise the problem has not yet been done. Drinking of alcohol by the mother during a pregnancy. Fetal alcohol syndrome cannot 5-5 Which communities have a high occur if a woman does not drink any alcohol rate of fetal alcohol syndrome? during her pregnancy or if she only drinks alcohol before or after the pregnancy. Fetal alcohol syndrome is most frequent in communities where poverty, low maternal NOTE Fetal alcohol syndrome is caused by education, unemployment and heavy or binge exposure of the embryo and fetus to ethyl alcohol. drinking are common. Fetal alcohol syndrome is caused by drinking alcohol during pregnancy. THE CAUSE OF FETAL ALCOHOL SYNDROME 5-3 Can fetal alcohol syndrome be inherited? 5-6 How can alcohol taken during No. Fetal alcohol syndrome is not a genetically pregnancy damage the fetus? inherited condition. It is caused by alcohol, i.e. a teratogen (something which damages Alcohol is a poisonous substance (teratogen), the fetus). However, there can be a number of which, if drunk by the mother during individuals with fetal alcohol syndrome in a pregnancy crosses the placenta and can family (e.g. mother and child, or siblings) due interfere with the normal growth and to the excessive use of alcohol in that family. development of the embryo and fetus. Both the amount (dosage) and the time 5-4 Is fetal alcohol syndrome common? (stage of pregnancy) that alcohol is drunk are important. Alcohol is most damaging to the While it is estimated that 1 in a 1000 embryo in the period of organ development infants have fetal alcohol syndrome in most between 17–6 days after conception, but also industrialised countries (e.g. USA, UK, France, harms the developing fetus from 6 days to Sweden) there is concern that the rate of alcohol delivery. The timing and amount of alcohol abuse is increasing and some children with fetal drunk will determine which organs are alcohol syndrome are not being recognised. damaged and the degree of damage. In South Africa fetal alcohol syndrome is A past history of heavy alcohol drinking in common. In communities in the Western a woman who does not drink during her and Northern Cape provinces of South Africa pregnancy cannot cause fetal alcohol syndrome. the population prevalence of fetal alcohol syndrome in children attending their first year of school is more than 50 per 1000 children, 5-7 Does drinking alcohol during i.e. 30 times commoner than Down syndrome. pregnancy always damage the fetus? This is one of the highest reported rates for fetal No. Not all women who drink during alcohol syndrome in a community in the world. pregnancy have a child with fetal alcohol In Soweto the incidence is 20/1000 children. syndrome but the risk in South African An estimated 1.4% of all South African infants women who drink heavily during pregnancy is are born with fetal alcohol syndrome. greater than 50 percent. NOTE Other developing countries where women abuse alcohol may also have a similarly
  • 3. FETAL ALCOHOL SYNDROME 85 5-8 How much alcohol is needed 5-11 How much alcohol is in one drink? to damage the fetus? One drink is defined as 15 ml of absolute Any amount of alcohol that a woman drinks alcohol which is equivalent to a glass of wine during pregnancy may be harmful to her (150 ml) or a can of beer (300 ml) or a tot of fetus. The more alcohol she drinks, the spirits (25 ml). A quart of beer (the largest greater is the chance that she will have an container commercially sold and measuring infant with fetal alcohol syndrome. 750 ml) is equivalent to 2.5 drinks and a standard bottle of wine (750 ml) is the same as five drinks. An estimate of what a person Even small amounts of alcohol are not safe is drinking must be calculated from the during pregnancy. history, taking care to understand what size of container the woman is using. One or two drinks a day is regarded as light drinking, three to five drinks a day is moderate NOTEBeer contains 5% alcohol, wine about drinking while more than five drinks a day is 10% and spirits approximately 30–40%. heavy drinking. Moderate or heavy drinking may damage the fetus. However, any amount of 5-12 Are all alcoholic drinks alcohol carries a risk of damaging the fetus. It dangerous to the fetus? is not known what mild effects may be caused Yes. The risk of alcohol damaging the fetus by light drinking as these are difficult to detect depends on the amount of absolute alcohol (e.g. a reduction in IQ or minor behaviour taken and NOT the type of drink (e.g. whisky, problems). A woman does not need be an beer, homebrew and wine). There are no alcoholic for her drinking to damage her fetus. alcoholic drinks which are safe during pregnancy. 5-9 What is binge drinking? This is defined as drinking more than five All forms of alcohol are dangerous during alcoholic drinks at a single occasion. In many South African communities, this is the usual pregnancy. way alcohol is taken and occurs mostly over weekends. The risk of fetal alcohol syndrome 5-13 When is it most dangerous to is particularly high with binge drinking drink alcohol during pregnancy? during pregnancy. Drinking alcohol is most dangerous between Chronic drinking refers to the pattern of three and eight weeks of gestation (i.e. four to drinking throughout the week. 10 weeks after the last menstrual period), as this may result in damage to the developing 5-10 Is it best not to drink alcohol organs of the embryo (malformations). The at all during pregnancy? organs most at risk during this time are the brain, heart, kidneys, eye, ear, palate and Yes. It is best for women not to drink any skeleton. Drinking alcohol during the first alcohol during pregnancy. trimester may cause congenital malformations of any of these organs. No amount of alcohol is considered safe during Therefore, women should stop drinking pregnancy. when they plan to fall pregnant, i.e. before conception.
  • 4. 86 BIR TH DEFECTS concentration in the fetus, as alcohol crosses Drinking alcohol is most dangerous during the the placenta easily. The higher the fetal blood first trimester of pregnancy. alcohol concentration, the greater is the risk of damage to the fetus. NOTE Drinking alcohol between three and eight weeks after conception may cause malformations in the developing embryo. The more alcohol a mother drinks, the greater is At this stage some women do not know the risk of damage to her fetus. or are unsure they are pregnant. Women who can drink a lot of alcohol before 5-14 Are there other periods becoming drunk are at a particularly high during pregnancy when alcohol risk of having an infant with fetal alcohol is dangerous to the fetus? syndrome as their fetusses are exposed to very Yes, alcohol is dangerous throughout high blood alcohol concentrations. pregnancy. Even after 10 weeks of gestation, alcohol can still harm the fetus even though it 5-16 What factors affect the blood may not cause congenital malformations. Fetal alcohol concentration? brain and physical growth can be affected if alcohol is drunk at any time during pregnancy. Many factors affect the mother’s blood alcohol If the mother only starts to drink after the first concentration and, therefore, the blood three months of pregnancy, the growth of the alcohol concentration of the fetus: fetal brain and body can be slowed causing 1. The amount of alcohol drunk (the volume brain damage and intra-uterine growth and alcohol content of the drink). restriction. 2. Time taken to drink the alcohol. Therefore, there is no time during pregnancy 3. Maternal weight. when it is safe for the mother to drink alcohol. 4. Food intake at the time of drinking. 5. Smoking and other drug abuse at the same time as drinking alcohol. Women should stop drinking alcohol before 6. Genetic factors. they conceive, and not drink alcohol at any time 7. Maternal malnutrition. during pregnancy, to ensure that their unborn infants are not damaged by alcohol. 5-17 How does the amount of alcohol and the time taken to drink the alcohol affect the blood alcohol concentration? 5-15 What other factors may alter the risk of alcohol damaging the fetus? There is a direct relationship between the amount of alcohol consumed, the time over Drinking alcohol affects individuals differently. which it was taken and the blood alcohol Some individuals become drunk on small concentration. The greater the amount of amounts of alcohol while others are unaffected alcohol drunk, and the shorter the time taken by large volumes. The critical factor that to drink the alcohol, the higher will be the determines the effect of alcohol in a person blood alcohol concentration. is the level of alcohol in their blood, the so- called blood alcohol concentration (BAC). An Normally, one drink results in a blood individual is more affected by a high blood alcohol concentration in the range of alcohol concentration than by a low blood 20–30 mg/% and then the alcohol is alcohol concentration. completely broken down (metabolised) over a period of two hours. After two drinks, the A high maternal blood alcohol concentration usual blood alcohol concentration is in the also results in a high blood alcohol
  • 5. FETAL ALCOHOL SYNDROME 87 Blood alcohol concentration (mg/%) 100 90 Four drinks 80 70 Three drinks 60 Two drinks 50 40 One drink 30 20 10 0 1 2 3 4 5 6 7 8 Hours Figure 5-1: The blood alcohol concentration over eight hours after one to four drinks. The greater the number of drinks, the higher the peak blood alcohol concentration and the longer it takes to return to nil range of 40 to 50 mg/% and the alcohol is 5-19 How does food intake affect broken down in four hours, and so on. the blood alcohol concentration? Food, especially carbohydrate foods such Drinking a lot of alcohol fast results in a high as bread, rice or maize products, reduces blood alcohol concentration. the absorption of alcohol from the stomach after drinking. This keeps the blood alcohol concentration lower. Drinking without eating, 5-18 How does maternal weight affect therefore, results in a higher blood alcohol the blood alcohol concentration? concentration. Each drink results in a higher blood alcohol concentration in women with a low weight 5-20 How does smoking and than in women who weigh more. Heavier other drug abuse affect the blood women, therefore, can usually drink more alcohol concentration? than light women before they become drunk. When smoking cigarettes and drinking occur NOTE A mother’s weight is related to the together, a higher blood alcohol concentration amount of water in her body (her total body can be expected than when the same amount water). The volume of alcohol drunk passes of alcohol is taken alone. Similarly, smoking into all the body water within 20 minutes. A marijuana (dagga) or taking other drugs large or heavy person has a large amount of together with alcohol also raises the blood body water and this dilutes the alcohol and alcohol concentration. Therefore, the risk of reduces the blood alcohol concentration. The fetal alcohol syndrome is higher if a woman reverse is true for a small individual who has both drinks alcohol and abuses other drugs less body water to dilute the alcohol, resulting in a higher blood alcohol concentration. during pregnancy. All smoking during pregnancy is strongly contra-indicated as smoking alone may cause poor fetal growth and be a factor in causing such defects as cleft-lip and cleft palate.
  • 6. 88 BIR TH DEFECTS 5-21 How do genetic factors affect are important in the breakdown of alcohol in the blood alcohol concentration? the liver, and deficiencies of iron or zinc may, therefore, result in a higher blood alcohol Alcohol is broken down in the liver by concentration. enzymes. These enzymes occur in two forms. They may either break down alcohol fast or slowly. Fast-acting enzymes, which break A higher blood alcohol concentration is expected down alcohol rapidly, result in a lower than in women who are underweight, smoke and do expected blood alcohol concentration for not eat when they drink. the amount of alcohol taken. The opposite is true for the slow-acting form of the enzymes which break down alcohol slowly resulting 5-23 Does maternal age affect the in a higher than expected blood alcohol risk of fetal alcohol syndrome? concentration. The rate at which a mother’s Heavy drinking during pregnancy at any liver breaks down alcohol is determined by age may cause fetal alcohol syndrome. whether she has inherited fast- or slow-acting However, drinkers tend to drink more as enzymes from her parents. Although fetal they get older and, therefore, the risk of fetal alcohol syndrome is not an inherited defect, alcohol syndrome increases with maternal individuals with slow-acting enzymes are at age. Maternal nutrition, poverty and general an increased risk of having an infant with fetal health also tend to become worse over time alcohol syndrome. in heavy drinkers. NOTE Two separate enzymes are involved with This may explain why older mothers may give metabolising alcohol. The first-step enzyme birth to an infant with fetal alcohol syndrome breaks alcohol down to acetaldehyde while the even if they delivered normal infants when second-step enzyme breaks down acetaldehyde they were young. to carbon dioxide and water. A rapid first- step enzyme followed by a slow second-step enzyme may result in high concentrations of acetaldehyde, which causes nausea in RECOGNISING INFANTS the person who is drinking. Due to these WITH FETAL ALCOHOL unpleasant side effects, this usually results in smaller amounts of alcohol being drunk by SYNDROME the person with this combination of enzymes. As a result, they usually have a lower blood alcohol concentration. Antabuse, the drug 5-24 What are the major features used to stop alcoholics from drinking, uses this of fetal alcohol syndrome? mechanism by interfering with the second- step enzyme (slowing it) to produce nausea 1. A history of the mother drinking heavily and vomiting in a person who ‘sneaks’ a drink. during pregnancy. 2. Microcephaly and low birth weight. 5-22 How does maternal malnutrition 3. Characteristic facial features. affect the blood alcohol concentration? 4. Slower growth than expected, both before and after delivery. Maternal undernutrition usually results in an 5. Developmental delay, intellectual disability individual with a low body weight. As a result, and behaviour problems. these women tend to have a higher blood 6. Congenital malformations. alcohol concentration than a heavier woman who has drunk the same amount. Also, certain trace elements and minerals, such as iron and zinc, may be at lower than normal levels in a malnourished person. Both of these minerals
  • 7. FETAL ALCOHOL SYNDROME 89 Discriminating features Associated features Epicanthal folds Short palpebral fissures Low nasal bridge Flat midface Short nose Minor ear abnormalities Indistinct philtrum Thin upper lip Micrognathia Figure 5-2: The typical facial features of fetal alcohol syndrome 5-25 Can infants with fetal alcohol 5-26 At what age is it easiest to syndrome be recognised at birth? diagnose fetal alcohol syndrome? Yes. Infants with fetal alcohol syndrome can Although the condition can be recognised often be recognised at birth as they have at birth, the clinical features of fetal alcohol typical facial features. The nurse or doctor syndrome often become more obvious when delivering the infant, or examining the infant the children are between three and 10 years of after birth, can recognise the condition. age. Therefore, many of these children are only Infants with fetal alcohol syndrome are often diagnosed in childhood. jittery, irritable and appear anxious after delivery. If the mother drank throughout the 5-27 What are the characteristic facial pregnancy, this abnormal behaviour could be appeances of a newborn infant and due to the sudden withdrawal of alcohol to the child with fetal alcohol syndrome? infant after delivery. The most important facial signs are: Fetal alcohol syndrome should always be expected if the mother gives a history of heavy 1. Narrow (short) palpebral fissures drinking during pregnancy. However, when (distance between the inner and outer mothers are not suspected of heavy drinking corner of the eye). in pregnancy, the diagnosis of fetal alcohol 2. A narrow pink border (vermillion border) syndrome may be missed. of the upper lip (the visible pink part of the upper lip, i.e. the area where a woman puts If the doctor is not sure whether the infant has her lipstick). fetal alcohol syndrome, the infant’s growth 3. Long, smooth upper lip with no vertical and development should be monitored before ridge (philtrum) between the nose and confirming the diagnosis. It is important the lip. to be sure of the diagnosis before labelling an infant as having fetal alcohol syndrome. Other less common signs include: It is therefore important to refer the infant 1. Flattened nasal bridge with epicanthic for further follow-up, e.g. developmental folds. assessment at a later stage. 2. Short upturned nose.
  • 8. 90 BIR TH DEFECTS 3. Small chin (micrognathia). With increasing age the flattening of the bridge 4. Deep creases down both sides of the of the nose fills out and becomes less noticeable mouth when the infant cries. while the nose and jaw become longer. If the 5. Flattened cheekbones. face of an adolescent or adult with fetal alcohol syndrome is viewed from the side, there is NOTE A formal scoring system can be used blunting of the tip of the nose, a long upper lip to include all dysmorphic features present. The higher the score the more likely the and characteristic jutting shape to the jaw. diagnosis of fetal alcohol sysndrome Experience is needed to notice these features. or partial fetal alcohol syndrome. NOTE Other features of FAS include, ptosis 5-30 May the pattern of drinking during (droopy eyelid), abnormally shaped teeth, a pregnancy affect the facial appearance of low hairline over the forehead and nape of the the infant with fetal alcohol syndrome? neck (hirsutism), and minor ear abnormalities. Yes. If the mother drinks heavily throughout They may also have a cleft palate. her pregnancy, but especially between four and 10 weeks of gestation, the characteristic 5-28 Why do infants with fetal facial appearance will be present. However, if alcohol syndrome all look alike? the mother only drinks after the first 10 weeks Most facial features of fetal alcohol syndrome of pregnancy, her infant may have a normal are due to poor development of the mid- face. A confident diagnosis of fetal alcohol face, giving the typical appearance. The syndrome then becomes very difficult. short upturned nose, long smooth upper lip without a philtrum, narrow pink border If a woman drinks heavily between four and 10 of the upper lip and small chin are due to weeks of pregnancy, her infant will be at high underdevelopment of the middle of the face. risk of having the characteristic facial appearance The philtrum consisting of two narrow ridges of fetal alcohol syndrome. which normal infants have running from the base of their nose to the centre of the upper lip. This is often missing or smooth in infants 5-31 Do infants with fetal alcohol with fetal alcohol syndrome. syndrome have small eyes? When infants with fetal alcohol syndrome Their eyes are usually of a normal size. cry, the pink part of the upper lip becomes However, their eyes appear small because they stretched and thin. They also often have deep have narrow palpebral fissures (the distance creases down both sides of their mouth which between the inner and outer corners of the eye). are not seen when the infant is not crying. Most NOTE Recent studies suggest that children with of the facial features of fetal alcohol syndrome fetal alcohol syndrome do have smaller eyes are more obvious when the infant cries. than normal as part of their microcephaly. 5-29 Do the facial features of fetal 5-32 How can the length of the alcohol syndrome change with age? palpebral fissures be measured? Yes. The facial features do change with age, The length of the palpebral fissure can be and the most useful time to recognise them is measured with a ruler. However, this requires between three and 10 years. Before and after special training and is usually only done at a this time the typical features are less obvious. genetic clinic. It is easier done in older children. After 10 years the facial features appear more normal although the palpebral fissures and ptosis remain for life.
  • 9. FETAL ALCOHOL SYNDROME 91 GROWTH AND Children with fetal alcohol syndrome are short DEVELOPMENT IN with small heads. INFANTS WITH FETAL 5-35 What is the effect of alcohol on ALCOHOL SYNDROME brain growth and devepment? Head circumference is a good measure of 5-33 What is the pattern of growth brain size and is often used to assess brain deficiency in newborn infants who growth. Slow brain growth results in slow head have fetal alcohol syndrome? growth. This can be demonstrated in the fetus with serial antenatal ultrasound scans. After Growth deficiency begins with the fetus and delivery, slow brain growth can be recorded by can be measured by serial antenatal ultrasound measuring head circumference with a tape and scans throughout pregnancy. As a result, these plotting it on a centile chart. infants often have a low birth weight (weigh less than 2500 g at birth). Usually their weight, Heavy drinking during pregnancy will slow length and head circumference at birth all fall down brain growth. Depending on the below the 10th centile for gestational age. They amount and timing, alcohol abuse can result in are, therefore, underweight and short for their microcephaly. As well as reducing brain growth, gestational age (stunted) with small heads. alcohol also damages the brain, especially Infants with fetal alcohol syndrome often have when alcohol is drunk in the first trimester. a head circumference which is lower than Deficient growth and structural damage to the their weight or length on the centile charts developing brain have serious consequences for (microcephaly). the intelligence and behaviour of people with fetal alcohol syndrome. Infants with fetal alcohol syndrome are growth restricted at birth. Drinking alcohol during pregnancy can restrict fetal brain growth and development. 5-34 What are the typical growth problems seen in older children 5-36 Are all people with fetal alcohol with fetal alcohol syndrome? syndrome intellectually disabled? Usually the infant’s weight, length and Yes. All people with fetal alcohol syndrome head circumference remain below the 10th are intellectually disabled with an average percentile. This pattern of slow growth intelligence (IQ) of 60–70, which is in the continues in the infant after delivery, even mild intellectual disability range (average IQ if the child receives a good diet. As a result, in normal people is 100). Worldwide, fetal mothers of children with fetal alcohol alcohol syndrome is one of the most common syndrome are often accused of not feeding preventable causes of intellectual disability. their children properly. Infants and children with fetal alcohol Both head circumference and length (height) syndrome are developmentally delayed. Their remain less than expected throughout motor milestones are often slow and their childhood and adolescence, resulting in short motor coordination poor. They also have adult stature with a small head. The increase learning and behaviour problems. in body weight is also slow although girls may become obese at puberty. Boys tend to remain underweight into adulthood.
  • 10. 92 BIR TH DEFECTS 2. Problems from an early age integrating Fetal alcohol syndrome is one of the common into society. Stealing, lying, aggression preventable causes of intellectual disability and other abnormal activities are world wide. common. These children are often easily influenced by others to take part in anti- 5-37 What language problems are common social (e.g. alcohol and drug abuse) and in children with fetal alcohol syndrome? criminal activities. They often suffer from anxiety and low self-esteem and have Children with fetal alcohol syndrome have difficulty finding employment as adults. delayed language development. However, Children with fetal alcohol syndrome once they learn to speak, they are often very often become ‘street children’. talkative although the content is very simple and sentence construction poor. Social development is seriously affected by the behaviour abnormalities, even if these children Hearing loss or deafness, and cleft lip or are placed in stable homes. palate can worsen speech problems. These can also affect the rate of acquiring speech and NOTE Poor concentration and hyperactivity pronunciation. Hearing loss or deafness may in children are also known as attention be due to recurrent ear infections, fluid behind deficit, hyperactivity disorder (ADHD). the eardrums (chronic serous otitis media) or congenital deafness due to nerve damage. 5-39 What learning problems are common in children with fetal alcohol syndrome? 5-38 What behaviour problems Most children with fetal alcohol syndrome are common in children with have general learning problems, especially fetal alcohol syndrome? with language, reading, writing, arithmetic Behaviour problems are very common. and problem solving. Failing at school is Infants are often irritable, cry a lot and common. The poor home environment also have feeding difficulties. This may affect the adds to the learning and behaviour problems mother–infant relationship and increases the as does attention deficit disorder. risk of physical abuse. Children with fetal alcohol syndrome Children with fetal alcohol syndrome have commonly: serious life long physical, emotional, intellectual 1. Have sleeping problems. and behaviour problems. 2. Are unable to learn from past mistakes. 3. Have a lack of sense of danger. 5-40 What is alcohol-related 4. Have poor concentration (attention deficit neurodevelopmental disorder? disorder). 5. Are hyperactive. Children who are exposed to alcohol only 6. Have poor memory. after the first trimester do not suffer the serious effects of alcohol on developing These behavioural abnormalities result in organs. They do not have the typical fetal children with fetal alcohol syndrome having: alcohol face and congenital malformations. 1. School learning problems. The However, alcohol later in pregnancy still has behaviour problems, especially the poor harmful effects on brain and body growth concentration and hyperactivity associated resulting in microcephaly and stunting. These with intellectual disability, result in school children are classified as Alcohol-Related failure and the need for special education. Neurodevelopmental Disorder or Alcohol- Related Neurological Defect or (ARND) and not Fetal Alcohol Syndrome. Because they do
  • 11. FETAL ALCOHOL SYNDROME 93 not have the typical facial features, they may CARE OF CHILDREN be difficult to diagnose. WITH FETAL ALCOHOL 5-41 What congenital malformations are SYNDROME AND associated with fetal alcohol syndrome? THEIR FAMILIES The following malformations are associated with fetal alcohol syndrome: 5-43 What care is available for people 1. Congenital heart defects. This is the with fetal alcohol syndrome? commonest associated malformation. The defect seen most often is ventricular septal People with fetal alcohol syndrome, as with defect (VSD) followed by atrial septal all people with congenital disability, should be defect (ASD). offered the ‘best possible patient care’ available. 2. Skeletal abnormalities. These include This includes care of their medical problems radio-ulnar synostosis (bony fusion of the and meeting their special needs: two bones seen on X-ray in older children 1. It is important to make and confirm the and adults), neural tube defects, vertebral diagnosis of fetal alcohol syndrome as abnormalities, abnormal fingers (4th and early as possible. This allows for early 5th), and pectus excavatum (funnel chest). counselling to inform parents about 3. Cleft lip and palate. Usually only a cleft the disorder and available treatment, palate is present. This is not common. and helps them come to terms with the Therefore examination of the palate with many problems and to emotionally bond a torch and spatula is necessary if the with their child. It also allows for an diagnosis of fetal alcohol syndrome is early start to treatment and intervention suspected. programmes. This will ensure the best long-term outcome for the person’s health, 5-42 Is there a test for fetal development and intellectual ability. alcohol syndrome? 2. Newborns should be kept warm and Unfortunately there is no specific biological test fed early to prevent hypoglycaemia and for fetal alcohol syndrome. Therefore, a blood hypothermia caused by their intra-uterine test cannot be used to screen children for this growth restriction. disorder. It is a clinical diagnosis based on a 3. Ear infections are common. They should careful general examination plus a history of the be diagnosed early and treated correctly mother taking alcohol during pregnancy and with antibiotics. a neurodevelopmental assessment. Great care 4. Behaviour problems should be managed. must be taken in making the correct diagnosis This is a specialised area of treatment and as it has serious implications for the person people with fetal alcohol syndrome should with fetal alcohol syndrome and the family. be referred to special units if possible. 5. Children with congenital heart defects may need to be treated for heart failure. 6. Surgical repair for congenital heart defects may be needed. Infants and children, suspected of having congenital heart defects, should be sent for cardiac assessment. 7. Other congenital malformations such as cleft lip or palate will need surgical correction.
  • 12. 94 BIR TH DEFECTS 5-45 Should children with fetal People with fetal alcohol syndrome, like all alcohol syndrome go to school? people with disability, should get the best possible care available for them. All children with fetal alcohol syndrome should have the opportunity of going to school, despite the fact that they will have 5-44 How should developmental and school learning problems. In South Africa at behavioural problems be managed? present, the Department of Education’s policy These children should be offered is ‘inclusive’ education for children with mild neurodevelopmental therapy and community- intellectual disability. The aim of the policy is based rehabilitation. Infants and children to allow disabled children to attend normal with fetal alcohol syndrome develop slowly, schools where they will be integrated into are intellectually disabled and have behaviour the education programme to the greatest problems. Their successful integration into extent possible, but will also have available the society, including schooling and finding specialised attention they need. Because of employment, is difficult and will be greatly their behaviour problems it may be necessary improved by early diagnosis and intervention. for the caregivers to work together with the This includes: school on the child’s educational management. The other option is for these children to go to a 1. Physiotherapy to assist those infants with school for the intellectually disabled. There are slow motor milestones to achieve their a few of these special schools in South Africa. motor milestones faster. 2. Hearing assessment (audiology) and speech therapy. Infants and children with 5-46 Should infants with fetal fetal alcohol syndrome have delayed speech alcohol syndrome be breastfed? development and this may be worsened by Yes. However, alcohol crosses into the breast hearing loss from recurrent ear infections milk in small amounts. Therefore, the mother or congenital auditory (hearing) nerve should be encouraged not to drink alcohol damage. Hearing must be checked if during the period that she is breastfeeding. deafness is suspected. Speech therapy helps Emotional bonding and infant nutrition can them to develop better speech faster. be improved with breastfeeding, especially 3. Occupational therapy. Fine motor co- when the home economic conditions are poor. ordination and personal and social development can be improved by an 5-47 What counselling is needed occupational therapist. by parents who have a child with Neurodevelopmental therapy in all its forms fetal alcohol syndrome? is available in major centres. However, in less Counselling is a major part of the care of resourced rural and urban regions, this may people with fetal alcohol syndrome and their only be available in the form of community- family, especially the parents. The parents need based rehabilitation. In South Africa, to be educated and informed about: community-based rehabilitation for infants and children with disability can be assisted 1. The diagnosis. by the use of a locally produced stimulation 2. The cause of fetal alcohol syndrome. program called START. 3. The clinical features, complications and prognosis of fetal alcohol syndrome, and Information on START can be obtained from: the treatment available. Sunshine Centre, P O Box 41167, Craighall, 4. The risk for parents with a child with fetal 2024. Telephone 011 642 2005. alcohol syndrome having another child with fetal alcohol syndrome in future pregnancies. The risk can be eliminated if
  • 13. FETAL ALCOHOL SYNDROME 95 the mother does not drink alcohol during using contraception until such time as they can all future pregnancies. If possible, she reduce or stop drinking alcohol should stop drinking alcohol completely. In the long term, educating the whole The parents, family and child with fetal community about the dangers of drinking alcohol syndrome need to be offered on-going may be the best approach to preventing psychosocial support as with all individuals fetal alcohol syndrome. FARR is currently who have a congenital disability. They suffer undertaking research and conducting lifelong problems which require lifelong care intervention programmes in various including support. The burden of the disorder communities in South Africa focusing on the is experienced not only by the affected person, support of pregnant women and community but also the family, especially parents, brothers development and support. and sisters. Support, help, reassurance and care in these circumstances may be obtained from: NOTE Many alcoholic drinks have a health warning on the label but it is uncertain whether this 1. Doctors, nurses (especially nursing staff reduces the risk of fetal alcohol syndrome. trained in genetics), genetic counsellors and neurodevelopmental therapists. 2. Teachers in special schools for the Every effort must be made to stop women intellectually disabled. drinking alcohol during pregnancy to prevent 3. Social workers. fetal alcohol syndrome. 4. The Foundation for Alcohol-Related Research (FARR). This non-governmental 5-49 How can you identify women organisation plays a role in South Africa at risk of delivering an infant in advocacy, patient and parent support, with fetal alcohol syndrome? and educating the public, medical and paramedical professions, social workers The following factors are associated with and educators. women at high risk: Contact details for FARR, 37 Thornhill Road, 1. A previous child with fetal alcohol Rondebosch, 7700 (Cape Town), South Africa. syndrome. This is the most important risk Telephone: 021 686 2645/46/47 and fax -21 factor. 685 7034 e-mail: info@farrsa.org.za 2. A previous child with developmental delays and a suspected history of maternal Internet: www.farr-sa.org.za drinking during pregnancy. 3. Women who admit to heavy drinking. 5-48 Can fetal alcohol 4. Women with a husband or partner who syndrome be prevented? drinks heavily. The answer is theoretically yes if the woman 5. Women from a community or household does not drink any alcohol when pregnant. The where alcohol is abused. reality is different. It is very difficult to prevent 6. A high suspicion that the woman drinks alcohol consumption in all women who may heavily. fall pregnant. It is also difficult to persuade All women must be asked about these risk heavy drinkers not to drink. However, there factors when they book for antenatal care. has been some success in reducing or stopping Mothers should also be asked about these risk drinking in women who have previously factors if their child is suspected of having fetal had a child with fetal alcohol syndrome. The alcohol syndrome. It is important not to be alternative is to try and persuade women, who judgemental when taking a history of alcohol are at risk, to delay becoming pregnant by intake. The amount and frequency of alcohol drunk should be established.
  • 14. 96 BIR TH DEFECTS 5-50 How should women at risk 3. Do two normal children indicate of delivering an infant with fetal that she has no risk of damaging alcohol syndrome be managed? this fetus with alcohol? 1. They must be informed of the risk to her No. Many women who drink a lot of unborn infant. alcohol tend to drink even more as they get 2. They should be provided with the older. Therefore their later children are at a information needed to make an informed particularly high risk of fetal alcohol syndrome. decision about her drinking, i.e. counselled. 3. They should be referred to the appropriate 4. Would the fetus be safe if the mother facilities or resources in the community only drank in the second half of pregnancy? where she can obtain help and support, e.g. social services, churches, women’s Alcohol in pregnancy is more dangerous in groups, schools, employers and the first 10 weeks after the last menstrual community workers. period when the fetal organs are still forming. 4. Women who are trying to stop abusing Heavy drinking during early pregnancy alcohol need the support of the whole may, therefore, result in brain damage and community. congenital malformations. However, drinking in later pregnancy may still interfere with the growth and brain development of the Preventing fetal alcohol syndrome is firstly a fetus. Some infants exposed to alcohol only community issue, but also a national concern. late in pregnancy appear normal at delivery but still have brain damage (alcohol-related neurodevelopmental disorders or alcohol- CASE STUDY 1 related neurological deficit). Therefore alcohol is dangerous at any time during pregnancy. A mother of two normal children drinks heavily throughout her pregnancy. She tells her 5. Is it safe for a mother who drinks friends that fetal alcohol syndrome is rare and heavily to breastfeed her infant? is inherited. Because her children are healthy As small amounts of alcohol cross into the she believes that there is no danger to her fetus. breast milk, it is best if a mother does not drink alcohol during the weeks and months that she 1. How common is fetal alcohol syndrome? is breastfeeding. However, alcohol in breast milk will not cause fetal alcohol syndrome. Although it is believed to be rare in industrialised countries (one in 1000 births) it is common in South Africa, especially in poor communities where more than 50 per 1000 CASE STUDY 2 infants may be affected. A young, thin woman who is pregnant with her first child goes to a party one Saturday 2. Is fetal alcohol syndrome inherited? evening with her boyfriend and gets very No. However, the rate at which alcohol drunk. They both drink five 300 ml cans of is broken down in the body is inherited. beers in less than an hour. She also smokes a Therefore, women who inherit a slow rate of few cigarettes and has very little to eat. breaking down alcohol are at an increased risk of a damaged fetus as they have higher blood concentrations of alcohol if they drink.
  • 15. FETAL ALCOHOL SYNDROME 97 1. Is it dangerous if she only drinks CASE STUDY 3 heavily once during her pregnancy? Taking a lot of alcohol even once during A midwife notices that a newborn infant has pregnancy is dangerous to a fetus. Binge a strange facial appearance. The infant weighs drinking like this can severely damage a fetus, less than 2500 g at birth and the head appears especially in the first trimester. particularly small. The mother admits to drinking heavily throughout her pregnancy. 2. How much alcohol is safe for a pregnant woman to drink? 1. What is the typical appearance of the face in infants with fetal alcohol syndrome? Any amount of alcohol carries a risk of fetal damage. It is best to drink no alcohol during They have short palpebral fissures and a long pregnancy. smooth upper lip without a philtrum. There are also deep creases down both sides of the 3. Does it matter how fast mouth and not much pink upper lip to be the alcohol is drunk? seen, especially when the infant cries. Most of these, and other facial features of fetal alcohol The greater the amount of alcohol and the syndrome, are due to poor growth of the faster it is drunk, the higher will be the blood central part of the face. alcohol concentration. The higher the blood alcohol concentration, the greater the risk of 2. What is the size at birth of most infants damage to the fetus. born with fetal alcohol syndrome? 4. How can one determine how many Most have a low birth weight (less than drinks there are in five 300 ml cans of beer? 2500 g). Their weight, length and especially head circumference measurements are One drink is equal to one 300 ml can of beer, less than expected for their gestational age one 150 ml glass of wine or a 25 ml tot of (less than the 10th centile). The small head spirits. One drink contains 15 ml of absolute indicates that the infant’s brain has been alcohol. Therefore five beers are equivalent to growing slowly during pregnancy. five drinks (or 75 ml alcohol). This is a large amount of alcohol. 3. How may the pattern of drinking during pregnancy affect the 5. Are some types of alcohol less appearance of the infant? dangerous to the fetus than others? The facial abnormalities are most marked if No. The risk to the fetus depends on the the mother drinks heavily during the first amount of alcohol not on the type of drink, months of pregnancy (four to 10 weeks after e.g. beer, wine or spirits. the last menstrual period). 6. What other factors may have influenced 4. At what age is the appearance of fetal her blood alcohol concentration? alcohol syndrome most easy to recognise? She is thin (and probably does not weigh very Although these infants can be recognised much), smokes and has little to eat. These at birth, their abnormal appearance is most factors will all result in a relatively high blood marked between three and 10 years of age. alcohol concentration. Most infants with fetal alcohol syndrome look similar, and with experience can be recognised.
  • 16. 98 BIR TH DEFECTS 5. What congenital malformations 3. What is the average intelligence of can be caused by heavy drinking children with fetal alcohol syndrome? during pregnancy? Most have a low IQ (intelligence quotient) of Excessive alcohol intake during pregnancy not 60 to 70. This puts them in the range of mildly only damages the growth and development intellectually disabled. Fetal alcohol syndrome of the fetus but can also cause congenital is one of the most common preventable causes malformations, especially of the heart of intellectual disability. (ventricular and atrial septal defects), skeleton and palate. 4. What language difficulties occur in these children? 6. Is there a blood or other test They have delayed language development, that can prove the diagnosis of i.e. they learn to talk later than normal. fetal alcohol syndrome? However, once they are able to speak, they No. The diagnosis is based on the mother’s tend to be very talkative, using simple poorly history of drinking alcohol during pregnancy, constructed sentences. a clinical diagnosis based on specific clinical signs in the infant and a neurodevelopmental 5. Are behaviour problems common assessment. There is no specific biological test in fetal alcohol syndrome? for fetal alcohol syndrome. Yes, behaviour problems are common. Young infants with fetal alcohol syndrome are irritable and cry a lot which often affects the CASE STUDY 4 mother–infant relationship and can result in child abuse. Older children are hyperactive A 10-year-old child with fetal alcohol syndrome with poor concentration (attention deficit). is having major schooling problems. The Anti-social behaviour with lying, stealing and teacher complains of bad behaviour. The child aggression may lead to criminal acts. is not able to keep up with the other normal children in the class and does not pay attention. 6. Should a child with fetal alcohol syndrome go to a normal school? 1. Why do children with fetal alcohol syndrome often fail at school? All children with fetal alcohol syndrome should go to school and, if possible, attend a normal All children with fetal alcohol syndrome have school. As most of these children have mild reduced intelligence and learning difficulties intellectual disability they will need extra help. and, therefore, failing at school is common. Some more seriously impaired children may The main problem is brain damage caused need to go to a special school, if it is available. by exposure to alcohol during pregnancy. In addition, there are often many social problems at home. CASE STUDY 5 2. What learning problems are common? Parents of a very difficult child with fetal Children with fetal alcohol syndrome have alcohol syndrome visit a local clinic for help particular problems with language, reading, and advice. They want to know what can be writing, arithmetic and problem solving. It is, done to help them care for the child. They therefore, not surprising that they often fail also ask about the risks of having another at school. child with fetal alcohol syndrome as they still drink heavily.
  • 17. FETAL ALCOHOL SYNDROME 99 1. What care is available for children a history or suspicion of heavy drinking with fetal alcohol syndrome? from the woman, her partner or the local community is also associated with an Parents of a child with fetal alcohol syndrome increased risk. This should always form part of need a lot of help and psychosocial support. the history taken at an antenatal clinic. Neurodevelopmental therapy is important and includes physiotherapy, hearing assessment and speech therapy, and occupational therapy. 4. Can fetal alcohol syndrome Doctors, nurses, teachers and social workers all be prevented? have a role to play. Comprehensive care can be Yes. Do not drink any alcohol throughout offered in special units in most larger centres pregnancy. This is not easy for a woman who in South Africa. Hospital and community- drinks heavily. Perhaps her best option, if based services to provide neurodevelopmental she cannot stop drinking, is to delay having therapy and stimulation programmes are further pregnancies, by using contraception. becoming available in other regions. Local support groups can be of great help. 5. How should this woman be helped? 2. Do children with fetal alcohol syndrome She must be advised about the risk of damage need special medical treatment? to her unborn child if she drinks during pregnancy, and be given the information she Ear infections are common and need to be needs to make an informed decision about diagnosed and treated early. Congenital her drinking. Both parents should be referred malformations such as heart defects and cleft to a local resource in the community such as palate will need correct treatment. a social worker, church group or community worker. People can stop drinking but they 3. What factors identify a women need the help and support of the whole at risk of having another child community if they are to succeed. with fetal alcohol syndrome? The most important risk factor is a previous child with fetal alcohol syndrome. However,