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Birth Defects: Fetal alcohol syndrome

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Birth Defects was written for healthcare workers who look after individuals with birth defects, their families, and women who are at increased risk of giving birth to an infant with a birth defect. …

Birth Defects was written for healthcare workers who look after individuals with birth defects, their families, and women who are at increased risk of giving birth to an infant with a birth defect. This book is being used in the Genetics Education Programme which trains healthcare workers in genetic counselling in South Africa. It covers: modes of inheritance, medical genetic counselling, birth defects due to chromosomal abnormalities, single gene defects, teratogens, multifactorial inheritance

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  • 1. 5 Fetal alcohol syndromeBefore you begin this unit, please take the INTRODUCTION TO FETALcorresponding test at the end of the book toassess your knowledge of the subject matter. You ALCOHOL SYNDROMEshould redo the test after you’ve worked throughthe 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 DEFECTS5-2 What is the cause of fetal high population prevalence of fetal alcoholalcohol syndrome? syndrome. However, the research needed to recognise the problem has not yet been done.Drinking of alcohol by the mother during apregnancy. Fetal alcohol syndrome cannot 5-5 Which communities have a highoccur if a woman does not drink any alcohol rate of fetal alcohol syndrome?during her pregnancy or if she only drinksalcohol 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 SYNDROME5-3 Can fetal alcoholsyndrome be inherited? 5-6 How can alcohol taken duringNo. 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 duringindividuals with fetal alcohol syndrome in a pregnancy crosses the placenta and canfamily (e.g. mother and child, or siblings) due interfere with the normal growth andto the excessive use of alcohol in that family. development of the embryo and fetus. Both the amount (dosage) and the time5-4 Is fetal alcohol syndrome common? (stage of pregnancy) that alcohol is drunk are important. Alcohol is most damaging to theWhile it is estimated that 1 in a 1000 embryo in the period of organ developmentinfants have fetal alcohol syndrome in most between 17–6 days after conception, but alsoindustrialised countries (e.g. USA, UK, France, harms the developing fetus from 6 days toSweden) there is concern that the rate of alcohol delivery. The timing and amount of alcoholabuse is increasing and some children with fetal drunk will determine which organs arealcohol 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 incommon. In communities in the Western a woman who does not drink during herand Northern Cape provinces of South Africa pregnancy cannot cause fetal alcohol syndrome.the population prevalence of fetal alcoholsyndrome in children attending their first yearof school is more than 50 per 1000 children, 5-7 Does drinking alcohol duringi.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 duringalcohol syndrome in a community in the world. pregnancy have a child with fetal alcoholIn Soweto the incidence is 20/1000 children. syndrome but the risk in South AfricanAn estimated 1.4% of all South African infants women who drink heavily during pregnancy isare 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 855-8 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 absoluteAny amount of alcohol that a woman drinks alcohol which is equivalent to a glass of wineduring pregnancy may be harmful to her (150 ml) or a can of beer (300 ml) or a tot offetus. The more alcohol she drinks, the spirits (25 ml). A quart of beer (the largestgreater is the chance that she will have an container commercially sold and measuringinfant 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 lightdrinking, three to five drinks a day is moderate NOTEBeer contains 5% alcohol, wine aboutdrinking while more than five drinks a day is 10% and spirits approximately 30–40%.heavy drinking. Moderate or heavy drinkingmay damage the fetus. However, any amount of 5-12 Are all alcoholic drinksalcohol 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 fetusby 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 noalcoholic 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 duringalcoholic drinks at a single occasion. In manySouth African communities, this is the usual pregnancy.way alcohol is taken and occurs mostly overweekends. The risk of fetal alcohol syndrome 5-13 When is it most dangerous tois particularly high with binge drinking drink alcohol during pregnancy?during pregnancy. Drinking alcohol is most dangerous betweenChronic drinking refers to the pattern of three and eight weeks of gestation (i.e. four todrinking throughout the week. 10 weeks after the last menstrual period), as this may result in damage to the developing5-10 Is it best not to drink alcohol organs of the embryo (malformations). Theat all during pregnancy? organs most at risk during this time are the brain, heart, kidneys, eye, ear, palate andYes. It is best for women not to drink any skeleton. Drinking alcohol during the firstalcohol 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 before5-14 Are there other periods becoming drunk are at a particularly highduring pregnancy when alcohol risk of having an infant with fetal alcoholis dangerous to the fetus? syndrome as their fetusses are exposed to veryYes, 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 bloodmay not cause congenital malformations. Fetal alcohol concentration?brain and physical growth can be affected ifalcohol is drunk at any time during pregnancy. Many factors affect the mother’s blood alcoholIf the mother only starts to drink after the first concentration and, therefore, the bloodthree 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 volumebrain 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 therisk of alcohol damaging the fetus? There is a direct relationship between the amount of alcohol consumed, the time overDrinking alcohol affects individuals differently. which it was taken and the blood alcoholSome individuals become drunk on small concentration. The greater the amount ofamounts of alcohol while others are unaffected alcohol drunk, and the shorter the time takenby large volumes. The critical factor that to drink the alcohol, the higher will be thedetermines 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 bloodindividual is more affected by a high blood alcohol concentration in the range ofalcohol concentration than by a low blood 20–30 mg/% and then the alcohol isalcohol concentration. completely broken down (metabolised) over a period of two hours. After two drinks, theA high maternal blood alcohol concentration usual blood alcohol concentration is in thealso 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 HoursFigure 5-1: The blood alcohol concentration over eight hours after one to four drinks. The greater the numberof drinks, the higher the peak blood alcohol concentration and the longer it takes to return to nilrange of 40 to 50 mg/% and the alcohol is 5-19 How does food intake affectbroken 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 alcoholthe blood alcohol concentration? concentration.Each drink results in a higher blood alcoholconcentration in women with a low weight 5-20 How does smoking andthan in women who weigh more. Heavier other drug abuse affect the bloodwomen, 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 DEFECTS5-21 How do genetic factors affect are important in the breakdown of alcohol inthe blood alcohol concentration? the liver, and deficiencies of iron or zinc may, therefore, result in a higher blood alcoholAlcohol is broken down in the liver by concentration.enzymes. These enzymes occur in two forms.They may either break down alcohol fast orslowly. Fast-acting enzymes, which break A higher blood alcohol concentration is expecteddown alcohol rapidly, result in a lower than in women who are underweight, smoke and doexpected blood alcohol concentration for not eat when they drink.the amount of alcohol taken. The opposite istrue for the slow-acting form of the enzymeswhich break down alcohol slowly resulting 5-23 Does maternal age affect thein a higher than expected blood alcohol risk of fetal alcohol syndrome?concentration. The rate at which a mother’s Heavy drinking during pregnancy at anyliver 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 asenzymes from her parents. Although fetal they get older and, therefore, the risk of fetalalcohol syndrome is not an inherited defect, alcohol syndrome increases with maternalindividuals with slow-acting enzymes are at age. Maternal nutrition, poverty and generalan increased risk of having an infant with fetal health also tend to become worse over timealcohol 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 disabilityindividual 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 womanwho has drunk the same amount. Also, certaintrace elements and minerals, such as iron andzinc, may be at lower than normal levels in amalnourished 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 MicrognathiaFigure 5-2: The typical facial features of fetal alcohol syndrome5-25 Can infants with fetal alcohol 5-26 At what age is it easiest tosyndrome be recognised at birth? diagnose fetal alcohol syndrome?Yes. Infants with fetal alcohol syndrome can Although the condition can be recognisedoften be recognised at birth as they have at birth, the clinical features of fetal alcoholtypical facial features. The nurse or doctor syndrome often become more obvious whendelivering the infant, or examining the infant the children are between three and 10 years ofafter birth, can recognise the condition. age. Therefore, many of these children are onlyInfants with fetal alcohol syndrome are often diagnosed in childhood.jittery, irritable and appear anxious afterdelivery. If the mother drank throughout the 5-27 What are the characteristic facialpregnancy, this abnormal behaviour could be appeances of a newborn infant anddue 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 beexpected if the mother gives a history of heavy 1. Narrow (short) palpebral fissuresdrinking during pregnancy. However, when (distance between the inner and outermothers 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 putsIf 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 verticaland development should be monitored before ridge (philtrum) between the nose andconfirming the diagnosis. It is important the lip.to be sure of the diagnosis before labellingan infant as having fetal alcohol syndrome. Other less common signs include:It is therefore important to refer the infant 1. Flattened nasal bridge with epicanthicfor further follow-up, e.g. developmental folds.assessment at a later stage. 2. Short upturned nose.
  • 8. 90 BIR TH DEFECTS3. Small chin (micrognathia). With increasing age the flattening of the bridge4. 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 the5. 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 characteristic5-28 Why do infants with fetal facial appearance will be present. However, ifalcohol syndrome all look alike? the mother only drinks after the first 10 weeksMost facial features of fetal alcohol syndrome of pregnancy, her infant may have a normalare due to poor development of the mid- face. A confident diagnosis of fetal alcoholface, giving the typical appearance. The syndrome then becomes very difficult.short upturned nose, long smooth upperlip without a philtrum, narrow pink border If a woman drinks heavily between four and 10of the upper lip and small chin are due to weeks of pregnancy, her infant will be at highunderdevelopment of the middle of the face. risk of having the characteristic facial appearanceThe philtrum consisting of two narrow ridges of fetal alcohol syndrome.which normal infants have running from thebase of their nose to the centre of the upperlip. This is often missing or smooth in infants 5-31 Do infants with fetal alcoholwith 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 theystretched and thin. They also often have deep have narrow palpebral fissures (the distancecreases 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 withof the facial features of fetal alcohol syndrome fetal alcohol syndrome do have smaller eyesare 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 thealcohol syndrome change with age? palpebral fissures be measured?Yes. The facial features do change with age, The length of the palpebral fissure can beand the most useful time to recognise them is measured with a ruler. However, this requiresbetween three and 10 years. Before and after special training and is usually only done at athis time the typical features are less obvious. genetic clinic. It is easier done in older children.After 10 years the facial features appear morenormal although the palpebral fissures andptosis remain for life.
  • 9. FETAL ALCOHOL SYNDROME 91GROWTH AND Children with fetal alcohol syndrome are shortDEVELOPMENT IN with small heads.INFANTS WITH FETAL 5-35 What is the effect of alcohol onALCOHOL SYNDROME brain growth and devepment? Head circumference is a good measure of5-33 What is the pattern of growth brain size and is often used to assess braindeficiency in newborn infants who growth. Slow brain growth results in slow headhave fetal alcohol syndrome? growth. This can be demonstrated in the fetus with serial antenatal ultrasound scans. AfterGrowth deficiency begins with the fetus and delivery, slow brain growth can be recorded bycan be measured by serial antenatal ultrasound measuring head circumference with a tape andscans throughout pregnancy. As a result, these plotting it on a centile chart.infants often have a low birth weight (weighless than 2500 g at birth). Usually their weight, Heavy drinking during pregnancy will slowlength and head circumference at birth all fall down brain growth. Depending on thebelow the 10th centile for gestational age. They amount and timing, alcohol abuse can result inare, therefore, underweight and short for their microcephaly. As well as reducing brain growth,gestational age (stunted) with small heads. alcohol also damages the brain, especiallyInfants 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 thetheir 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 growthproblems seen in older children 5-36 Are all people with fetal alcoholwith fetal alcohol syndrome? syndrome intellectually disabled?Usually the infant’s weight, length and Yes. All people with fetal alcohol syndromehead circumference remain below the 10th are intellectually disabled with an averagepercentile. This pattern of slow growth intelligence (IQ) of 60–70, which is in thecontinues in the infant after delivery, even mild intellectual disability range (average IQif the child receives a good diet. As a result, in normal people is 100). Worldwide, fetalmothers of children with fetal alcohol alcohol syndrome is one of the most commonsyndrome are often accused of not feeding preventable causes of intellectual disability.their children properly. Infants and children with fetal alcoholBoth head circumference and length (height) syndrome are developmentally delayed. Theirremain less than expected throughout motor milestones are often slow and theirchildhood and adolescence, resulting in short motor coordination poor. They also haveadult stature with a small head. The increase learning and behaviour problems.in body weight is also slow although girls maybecome obese at puberty. Boys tend to remainunderweight 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) andin children with fetal alcohol syndrome? criminal activities. They often suffer from anxiety and low self-esteem and haveChildren with fetal alcohol syndrome have difficulty finding employment as adults.delayed language development. However, Children with fetal alcohol syndromeonce they learn to speak, they are often very often become ‘street children’.talkative although the content is very simpleand sentence construction poor. Social development is seriously affected by the behaviour abnormalities, even if these childrenHearing loss or deafness, and cleft lip or are placed in stable homes.palate can worsen speech problems. These canalso affect the rate of acquiring speech and NOTE Poor concentration and hyperactivitypronunciation. Hearing loss or deafness may in children are also known as attentionbe due to recurrent ear infections, fluid behind deficit, hyperactivity disorder (ADHD).the eardrums (chronic serous otitis media) orcongenital 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 syndromeare common in children with have general learning problems, especiallyfetal alcohol syndrome? with language, reading, writing, arithmeticBehaviour problems are very common. and problem solving. Failing at school isInfants are often irritable, cry a lot and common. The poor home environment alsohave feeding difficulties. This may affect the adds to the learning and behaviour problemsmother–infant relationship and increases the as does attention deficit disorder.risk of physical abuse.Children with fetal alcohol syndrome Children with fetal alcohol syndrome havecommonly: serious life long physical, emotional, intellectual1. 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-related4. Have poor concentration (attention deficit neurodevelopmental disorder? disorder).5. Are hyperactive. Children who are exposed to alcohol only6. Have poor memory. after the first trimester do not suffer the serious effects of alcohol on developingThese behavioural abnormalities result in organs. They do not have the typical fetalchildren 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 93not have the typical facial features, they may CARE OF CHILDRENbe difficult to diagnose. WITH FETAL ALCOHOL5-41 What congenital malformations are SYNDROME ANDassociated with fetal alcohol syndrome? THEIR FAMILIESThe following malformations are associatedwith fetal alcohol syndrome: 5-43 What care is available for people1. 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 about3. 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 andUnfortunately there is no specific biological test fed early to prevent hypoglycaemia andfor fetal alcohol syndrome. Therefore, a blood hypothermia caused by their intra-uterinetest 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 shouldcareful general examination plus a history of the be diagnosed early and treated correctlymother 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 andas it has serious implications for the person people with fetal alcohol syndrome shouldwith 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 have5-44 How should developmental and school learning problems. In South Africa atbehavioural problems be managed? present, the Department of Education’s policyThese children should be offered is ‘inclusive’ education for children with mildneurodevelopmental therapy and community- intellectual disability. The aim of the policy isbased rehabilitation. Infants and children to allow disabled children to attend normalwith fetal alcohol syndrome develop slowly, schools where they will be integrated intoare intellectually disabled and have behaviour the education programme to the greatestproblems. Their successful integration into extent possible, but will also have available thesociety, including schooling and finding specialised attention they need. Because ofemployment, is difficult and will be greatly their behaviour problems it may be necessaryimproved by early diagnosis and intervention. for the caregivers to work together with theThis includes: school on the child’s educational management. The other option is for these children to go to a1. 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, especially3. 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 withNeurodevelopmental therapy in all its forms fetal alcohol syndrome?is available in major centres. However, in less Counselling is a major part of the care ofresourced rural and urban regions, this may people with fetal alcohol syndrome and theironly be available in the form of community- family, especially the parents. The parents needbased rehabilitation. In South Africa, to be educated and informed about:community-based rehabilitation for infantsand 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, andInformation 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 fetal2024. 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 wholeThe parents, family and child with fetal community about the dangers of drinkingalcohol syndrome need to be offered on-going may be the best approach to preventingpsychosocial support as with all individuals fetal alcohol syndrome. FARR is currentlywho have a congenital disability. They suffer undertaking research and conductinglifelong problems which require lifelong care intervention programmes in variousincluding support. The burden of the disorder communities in South Africa focusing on theis experienced not only by the affected person, support of pregnant women and communitybut also the family, especially parents, brothers development and support.and sisters. Support, help, reassurance and carein these circumstances may be obtained from: NOTE Many alcoholic drinks have a health warning on the label but it is uncertain whether this1. 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 prevent3. 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 alcoholRondebosch, 7700 (Cape Town), South Africa. syndrome. This is the most important riskTelephone: 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 maternalInternet: 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 whosyndrome be prevented? drinks heavily.The answer is theoretically yes if the woman 5. Women from a community or householddoes 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 drinksalcohol consumption in all women who may heavily.fall pregnant. It is also difficult to persuade All women must be asked about these riskheavy 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 riskdrinking in women who have previously factors if their child is suspected of having fetalhad a child with fetal alcohol syndrome. The alcohol syndrome. It is important not to bealternative is to try and persuade women, who judgemental when taking a history of alcoholare at risk, to delay becoming pregnant by intake. The amount and frequency of alcohol drunk should be established.
  • 14. 96 BIR TH DEFECTS5-50 How should women at risk 3. Do two normal children indicateof delivering an infant with fetal that she has no risk of damagingalcohol 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 get2. 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 drinksheavily throughout her pregnancy. She tells her 5. Is it safe for a mother who drinksfriends 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 theshe 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 she1. 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 inindustrialised countries (one in 1000 births) itis common in South Africa, especially in poorcommunities where more than 50 per 1000 CASE STUDY 2infants may be affected. A young, thin woman who is pregnant with her first child goes to a party one Saturday2. Is fetal alcohol syndrome inherited? evening with her boyfriend and gets veryNo. However, the rate at which alcohol drunk. They both drink five 300 ml cans ofis broken down in the body is inherited. beers in less than an hour. She also smokes aTherefore, women who inherit a slow rate of few cigarettes and has very little to eat.breaking down alcohol are at an increased riskof a damaged fetus as they have higher bloodconcentrations of alcohol if they drink.
  • 15. FETAL ALCOHOL SYNDROME 971. Is it dangerous if she only drinks CASE STUDY 3heavily once during her pregnancy?Taking a lot of alcohol even once during A midwife notices that a newborn infant haspregnancy is dangerous to a fetus. Binge a strange facial appearance. The infant weighsdrinking like this can severely damage a fetus, less than 2500 g at birth and the head appearsespecially in the first trimester. particularly small. The mother admits to drinking heavily throughout her pregnancy.2. How much alcohol is safe for apregnant 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 fetaldamage. It is best to drink no alcohol during They have short palpebral fissures and a longpregnancy. smooth upper lip without a philtrum. There are also deep creases down both sides of the3. Does it matter how fast mouth and not much pink upper lip to bethe alcohol is drunk? seen, especially when the infant cries. Most of these, and other facial features of fetal alcoholThe greater the amount of alcohol and the syndrome, are due to poor growth of thefaster it is drunk, the higher will be the blood central part of the face.alcohol concentration. The higher the bloodalcohol concentration, the greater the risk of 2. What is the size at birth of most infantsdamage to the fetus. born with fetal alcohol syndrome?4. How can one determine how many Most have a low birth weight (less thandrinks there are in five 300 ml cans of beer? 2500 g). Their weight, length and especially head circumference measurements areOne drink is equal to one 300 ml can of beer, less than expected for their gestational ageone 150 ml glass of wine or a 25 ml tot of (less than the 10th centile). The small headspirits. One drink contains 15 ml of absolute indicates that the infant’s brain has beenalcohol. Therefore five beers are equivalent to growing slowly during pregnancy.five drinks (or 75 ml alcohol). This is a largeamount of alcohol. 3. How may the pattern of drinking during pregnancy affect the5. Are some types of alcohol less appearance of the infant?dangerous to the fetus than others? The facial abnormalities are most marked ifNo. The risk to the fetus depends on the the mother drinks heavily during the firstamount of alcohol not on the type of drink, months of pregnancy (four to 10 weeks aftere.g. beer, wine or spirits. the last menstrual period).6. What other factors may have influenced 4. At what age is the appearance of fetalher blood alcohol concentration? alcohol syndrome most easy to recognise?She is thin (and probably does not weigh very Although these infants can be recognisedmuch), smokes and has little to eat. These at birth, their abnormal appearance is mostfactors 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 DEFECTS5. What congenital malformations 3. What is the average intelligence ofcan be caused by heavy drinking children with fetal alcohol syndrome?during pregnancy? Most have a low IQ (intelligence quotient) ofExcessive alcohol intake during pregnancy not 60 to 70. This puts them in the range of mildlyonly damages the growth and development intellectually disabled. Fetal alcohol syndromeof the fetus but can also cause congenital is one of the most common preventable causesmalformations, especially of the heart of intellectual disability.(ventricular and atrial septal defects), skeletonand 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, theyNo. The diagnosis is based on the mother’s tend to be very talkative, using simple poorlyhistory of drinking alcohol during pregnancy, constructed sentences.a clinical diagnosis based on specific clinicalsigns in the infant and a neurodevelopmental 5. Are behaviour problems commonassessment. 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 theCASE STUDY 4 mother–infant relationship and can result in child abuse. Older children are hyperactiveA 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 andteacher complains of bad behaviour. The child aggression may lead to criminal acts.is not able to keep up with the other normalchildren 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 alcoholsyndrome often fail at school? All children with fetal alcohol syndrome should go to school and, if possible, attend a normalAll children with fetal alcohol syndrome have school. As most of these children have mildreduced intelligence and learning difficulties intellectual disability they will need extra help.and, therefore, failing at school is common. Some more seriously impaired children mayThe 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 socialproblems at home. CASE STUDY 52. What learning problems are common? Parents of a very difficult child with fetalChildren with fetal alcohol syndrome have alcohol syndrome visit a local clinic for helpparticular problems with language, reading, and advice. They want to know what can bewriting, arithmetic and problem solving. It is, done to help them care for the child. Theytherefore, not surprising that they often fail also ask about the risks of having anotherat school. child with fetal alcohol syndrome as they still drink heavily.
  • 17. FETAL ALCOHOL SYNDROME 991. What care is available for children a history or suspicion of heavy drinkingwith fetal alcohol syndrome? from the woman, her partner or the local community is also associated with anParents of a child with fetal alcohol syndrome increased risk. This should always form part ofneed a lot of help and psychosocial support. the history taken at an antenatal clinic.Neurodevelopmental therapy is important andincludes physiotherapy, hearing assessmentand speech therapy, and occupational therapy. 4. Can fetal alcohol syndromeDoctors, nurses, teachers and social workers all be prevented?have a role to play. Comprehensive care can be Yes. Do not drink any alcohol throughoutoffered in special units in most larger centres pregnancy. This is not easy for a woman whoin South Africa. Hospital and community- drinks heavily. Perhaps her best option, ifbased services to provide neurodevelopmental she cannot stop drinking, is to delay havingtherapy and stimulation programmes are further pregnancies, by using contraception.becoming available in other regions. Localsupport 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 damageneed special medical treatment? to her unborn child if she drinks during pregnancy, and be given the information sheEar infections are common and need to be needs to make an informed decision aboutdiagnosed and treated early. Congenital her drinking. Both parents should be referredmalformations such as heart defects and cleft to a local resource in the community such aspalate will need correct treatment. a social worker, church group or community worker. People can stop drinking but they3. What factors identify a women need the help and support of the wholeat risk of having another child community if they are to succeed.with fetal alcohol syndrome?The most important risk factor is a previouschild with fetal alcohol syndrome. However,