Fetal Alcohol Syndrome

Dr Hari KAtrash, Associate Director for Program Development,National Centre on Birth Defects and Developmental Disabilities, USA, gave a major presentation on the Fetal Alcohol Syndrome. The Globe felt it appropriate to print the lecture in full due to the growing use of alcohol among teenage girls and young women. For many years the US Health Authorities have warned pregnant women not to drink. The UK Health Department has recently given the same advice. Dr Vivienne Nathanson, Head of BMA Science and Ethics, said: “The UK has one of the highest levels of binge-drinking in Europe and the highest rate of teenage pregnancies in Western Europe. Many women will not know they are pregnant during the early part of pregnancy,during which time they may continue to drink in their pre-pregnancy fashion with no awareness of the risk to their unborn child.”

When a mother-to-be drinks alcohol, her unborn child also is exposed to alcohol.The common misconception that the baby is protected in the uterus from alcohol exposure is completely untrue. Excessive drinking by the mother at any time after fertilization of the egg may result in damage to the developing child.

The possible detrimental effects of prenatal alcohol exposure have been known for some time. Aristotle observed that “drunken women” most often bring forth children like themselves1. The Bible advised women who will conceive and bear a son to drink no wine or strong drink.2

Modern research has consistently shown, both in animals and in humans, the detrimental effects of prenatal alcohol exposure. In 1973 Drs. Ken Jones, David Smith and associates published two papers describing a common set of features for 11 children whose mothers were known to be alcoholics or heavy drinkers during their pregnancies. A French physician, Philip Lemoine, also had described a similar pattern of anomalies previously in the French medical literature in 1967.

Fetal alcohol spectrum disorders (FASDs) is an umbrella term describing the range of effects that can occur in an individual whose mother drank alcohol during pregnancy. These effects include physical,mental, behavioral, and/or learning disabilities with possible life long implications. The full syndrome of FAS represents only a fraction of the cases of FASDs, although it is considered most severe consequence of maternal alcohol abuse.

Fetal alcohol spectrum disorders include other conditions, in which individuals have some, but not all, of the clinical signs of FAS. Some other terms used to represent children within this spectrum include: Partial FetalAlcohol Syndrome (pFAS), Alcoholrelated neurodevelopmental disorder (ARND), Alcohol-related birth defects (ARBD), and the outdated term of Fetal alcohol effects (FAE - used to describe children without all the features or children with very mild effects.

1. Aristotle Problemata

2. Judges Chapter 13 verse 7.

Editor’ note: this passage refers to the conception of Samson. His mother had to take the vow of the Nazirite which included among other things not to take any wine or other fermented drink.

FASD Characteristics
Children with FASDs have one or more of the characteristics or exhibit the behaviors outlined below:

  • Physcial and Facial abnormalities such as small eye openings, thin upper lip, and smooth ridge under their nose.
  • Growth problems, including possible microcephaly.
  • Central nervous system abnormalities, incluing structural, neurological or functional difficulties.
  • Common functional problems include:
    • poor visual-spatial/motor skills,
    • attention problems,
    • difficulties with math,
    • learning disabilities
    • immature social-language skills.

Spectrum of outcomes
Source: Streissguth A. A long-term perspective of FAS. Alcohol Health & Research. 1994.18(1):p.77

The damage caused by prenatal alcohol consumption to the central nervous system is by far the most serious of all the other effects seen. This CNS dysfunction might be physical (e.g.microcephaly) neurological (poor coordination) or cognitive/ behavioral (developmental delay or even mental retardation, learning problems, attention problems, or problems with communications and social interactions).

Growth/FacialAnomalies:
Growth deficiency and facial anomalies of children with FASDs can be quite varied, but a few cardinal features used to make the diagnosis include:

  • Small,widely spaced eyes (known as small palpebral fissures).
  • Smooth,wide ridge under the nose (known as a philtrum) (Slide 9).
  • Thin upper lip (known as vermillion border)
  • Small height or weight (either before or after birth).

In addition to these cardinal physical features, several other associated features may be present, including:

  • Flat midface.
  • Small upturned nose.
  • Small head circumference.
  • Unusual palm creases
  • Curved fingers.
  • Ear anomolies.
  • Folds on the inner eye (known as epicanthal folds).
  • Small teeth (known as micrognathia).

Brain Effects
Significant structural changes have been described in animal models and humans having FASDs in the cerebral cortex, hippocampus and cerebellum as well as pathways connecting the two halves of the brain, such as the corpus callosum. Recently, magnetic resonance imaging (MRI) has made it possible to examine the brains of living individuals with FAS. These scans indicate that individuals with FASDs can have abnormalities in several different brain structures: corpus collosum, basal ganglia and the rostral portion of the cerebellar vermis have been shown to be structurally deficient.These deficiencies are not reparable.The effects of maternal alcohol abuse clearly cause brain damage that lasts a lifetime!

Growing up with FAS
Children with FASDs grow up and may experience grave problems trying to cope with the deficits that impact on much of their daily living. Learning is difficult, making friends is difficult, and understanding many of the subtle aspects of adult life can be difficult. Anyone who experiences these difficulties can become frustrated and lash out in negative ways, including individuals with FASDs. In addition, poor social judgments combined with a desire for friends and companions can lead persons with FASDs into dangerous situations and allow them to be taken advantage of by others.

LongTerm Effects
In addition to primary problems that children with FASDs come into the world with, they can also develop secondary problems as they navigate through life. The diagram shows the results of a cohort of children with FASDs who were followed over time. Mental health problems were almost universal. About two thirds had disrupted school experiences or trouble with the law. About half had been confined by incarceration or inpatient treatment, and about one third had problems with alcohol and drugs. Many will never be able to live independently without an adult to supervise them.

Prevalence
Prenatal alcohol exposure is a leading preventable cause of birth defects and developmental disabilities in the USA (Pediatrics. 2000;106:358-61) and most likely abroad in countries with similar alcohol consumption patterns. We don’t know the exact prevalence of FAS. The prevalence depends on the population studied and the methods used for the studies. Rates vary from 0.2 to 1.5 per 1000 live births in the USA. The conservative overall estimate is 1 per 1,000 live births. The incidence of Alcohol-Related Neurodevelopmental Disorders (ARND) is estimated to be at least twice as high as that of full-blown FAS (Teratology. 1999;60(2):51-52.

Estimates for different ethnic groups obtained from studies sponsored by the Centers for Disease Control and Prevention range from 0.3 in the general population to up to 5.6/1000 live births in the American Indian/Alaska native population.

OrgansAffected
Different organ systems can be affected at different points during pregnancy. Diagram (slide 14) illustrates the development periods for many organ systems. Vulnerability of the fetus to alcohol-related defects may occur during these periods. Note the darker portion of the bars represents the most sensitive periods of development, during which teratogenic effects on the organs listed may result in major structural or functional abnormalities in a child. The lighter portion of the bars represents periods of development during which physiological defects and/or minor structural abnormalities would occur. This is particularly important since one or more birth defects may be associated with fetal alcohol exposure that include abnormalities of the eyes, ears, heart, kidneys or limbs as well as the brain and face.

Note the extensive period of time during nervous system development that is represented as a period being MOST sensitive to a teratogenic substance, such as alcohol.

Drinking in Pregnancy
Graph (slide 15) represents the proportion of women in the United States who drink at different levels during pregnancy. The yellow upper line represents those who reported drinking at least one or more drinks in the past months. There have been some fluctuations but there is no significant change in the rate over the past ten years. About 1 in 8 pregnant women are drinkers. The bottom blue line shows the number of women who binge drink, and the red line is the number who drink 7 or more drinks per week and/or binge. Frequent drinking and, in particular, binge drinking carry the greatest risk of producing some of the most severe results. This rate has also not changed over the past 10 years and stands at about 1 in 30 pregnant women.

Drinking Outside Pregnancy
What is of further concern is the number of women of childbearing age who drink alcohol at the higher levels as noted in Graph
(slide 16). This is because many of them will become pregnant and not know it and continue drinking at levels that can be hazardous to the developing fetus. In the USA 1 in 8 non-pregnant childbearing aged women drink at those levels. 52% report drinking one or more drinks in the past month.

Prevention
Preventing prenatal alcohol exposure is relatively simple in concept. In short, one must keep alcohol and pregnancy from mixing. Either abstaining from alcohol use, or not becoming pregnant can accomplish this.

FASDs are completely preventable if a woman does not consume alcohol in pregnancy.However, everyone wants to know“how much is too much?”Although alcohol-related birth defects are believed to be induced in a dose response manner, low dose effects are very difficult to assess scientifically in human populations.Whether there is a threshold below which alcohol can be consumed without harming the conceptus is not known. Also, due in part to individual variability (susceptibility), research will not be able to provide an accurate answer for everyone.

Considering that problems resulting from prenatal alcohol consumption are life long, the best advice is to totally abstain from alcohol use during pregnancy, even at stages prior to the time that pregnancy is recognized.

Primary Prevention
Recommendations
For these reasons, in the USA, it is recommended that:

1. A pregnant woman should not drink alcohol during pregnancy.

2. A pregnant woman who has already consumed alcohol during her pregnancy should stop in order to minimize further risk.

3. A woman who is considering becoming pregnant or at risk of becoming pregnant should abstain from alcohol.

4. Recognizing that nearly half of all births in the United States are unplanned,women of childbearing age should consult their physician and take steps to reduce the possibility of prenatal alcohol exposure.

5. Health professionals should inquire routinely about alcohol consumption by women of childbearing age, inform them of the risks of alcohol consumption during pregnancy, and advise them not to drink alcoholic beverages during pregnancy.

Prevention Strategies
In general, the prevention of FASDs and their consequences involves three levels of action:

  • Primary Prevention: In the case of FAS, this would include informing the public, particularly young people, about the dangers of drinking during pregnancy and on a broader level, addressing determinants of health.
  • Secondary Prevention: Strategies should include screening and early intervention programs and services for pregnant women and women of childbearing potential who may be at high risk for having a child with FAS.
  • Tertiary Prevention: Strategies should include diagnosis and intervention programs designed specifically for children with FAS and their caregivers; identification and treatment for women and their partners who already have one FAS child and plan to have more children; and identification and treatment of women who are not currently pregnant but who are at risk of becoming pregnant and currently engaging in risky drinking (binge drinking or frequent drinking).

Tertiary Prevention Challenges
Tertiary prevention involves diagnosis of FAS/FASDs and referral for proper management and treatment. However, until recently, no specific and uniformly accepted diagnostic criteria have been available. The four broad areas of clinical features that constitute the diagnosis of FAS have remained essentially the same since first described in 1973: selected facial malformations, growth retardation,Central Nervous System (CNS) abnormalities, and maternal alcohol consumption during pregnancy. These four areas were reaffirmed in a 1996 report by the Institute of Medicine (IOM; 39-40). These broad areas of diagnostic criteria are not sufficiently specific to ensure diagnostic accuracy, consistency, and reliability. For example, clinicians do not have guidance about how many facial features must be present or the timing and severity of growth retardation needed to constitute FAS diagnostic criteria. Thus, health providers are hampered in their efforts to screen and identify children with FAS.

Additional challenges for tertiary prevention include:

  • FAS diagnosis is based on clinical examination of features, but not all children with FAS look or act the same. Because each of the symptoms has a broad range of differential diagnoses, it is easy for a clinician to miss or misdiagnose FAS.
  • Lack of knowledge and misconceptions among primary care providers. Many professionals believe that FAS can only occur if the mother is an alcoholic. Few know about the full range or progressive nature of the neurobehavioral symptoms that result from prenatal exposure to alcohol.
  • Being unfamiliar with the diagnostic criteria that distinguishes FAS from other alcohol-related conditions.CDC, in conjunction with the National Task Force on FAS/FAE recently published updated guidelines for FAS that can be accessed at http://www.cdc.gov/ncbddd/fas/default.htm.