Home > Encyclopedia of Nursing & Allied Health > Fetal Alcohol Syndrome

Definition

Fetal alcohol syndrome (FAS) is a pattern of birth defects and learning and behavioral problems affecting individuals whose mothers consumed alcohol during pregnancy.

Description

FAS is the most common preventable cause of mental retardation. This condition was first recognized and reported in the medical literature in 1968 in France and in 1973 in the United States. Alcohol is a teratogen—the term used for any drug, chemical, maternal disease, or other environmental exposure that can cause birth defects or functional impairment in a developing fetus. Some features may be present at birth, including low birth weight, prematurity, and microcephaly. Characteristic facial features may be present at birth, or may become more obvious over time. Signs of brain damage include delays in development, behavioral abnormalities, and mental retardation, but affected individuals exhibit a wide range of abilities and disabilities. Only since 1991 has the long-term outcome of FAS been observed. Emotional disorders as well as learning and behavioral problems are common in adolescents and adults with FAS. Fetal alcohol effect (FAE), a term no longer favored, is sometimes used to describe individuals with some, but not all, of the features of FAS. In 1996 the Institute of Medicine suggested a five-level system to describe the birth defects, learning, and behavioral difficulties in offspring of women who drank alcohol during pregnancy. This system contains a number of criteria that must be present, including confirmation of maternal alcohol exposure, characteristic facial features, growth problems, learning and behavioral problems, and birth defects known to be associated with prenatal alcohol exposure.

The incidence of FAS varies among different populations studied, and ranges from approximately one in 200 to one in 2,000 live births. However, a study reported in 1997, utilizing the Institute of Medicine criteria, estimated the prevalence of FAS in Seattle, Washington, from 1975-1981 at nearly one in 100 live births. Avoiding alcohol during pregnancy, especially during the earliest weeks of the pregnancy, can prevent FAS. Not even the smallest amount of alcohol consumed during pregnancy has been proven to be completely safe.

FAS is neither a genetic nor inherited disorder. It is a pattern of birth defects and learning and behavioral problems that result entirely from maternal alcohol use during pregnancy. Alcohol freely crosses the placenta and causes damage to the developing embryo or fetus. Alcohol use by the father cannot cause FAS. If a woman with FAS drinks alcohol during pregnancy, she, too, may have a child with FAS. Not all individuals from alcohol-exposed pregnancies have obvious signs or symptoms of FAS. Individuals of different genetic backgrounds may be more or less susceptible to the damage that alcohol can cause. The dose of alcohol, the time during pregnancy at which the alcohol is used, and the pattern of alcohol use, all contribute to the different signs and symptoms that can be identified.

There is no racial or ethnic susceptibility to FAS. Individuals from different genetic backgrounds exposed to similar amounts of alcohol during pregnancy may exhibit different signs or symptoms of FAS. Several studies have estimated that between 25% and 45% of chronically alcoholic women will give birth to a child with FAS if they continue to drink during pregnancy. The risk of FAS appears to increase the older a chronically alcoholic woman becomes in her childbearing years and continues to drink. That is, a child with FAS will often be one of the last children born to a chronically alcoholic woman, although older siblings may exhibit milder features of FAS. Binge drinking, defined as the sporadic use of five or more standard alcoholic drinks per occasion, and moderate daily drinking (two to four 12 oz bottles of beer, 8 to 16 ounces of wine, 2 to 4 ounces of liquor) can also result in offspring with features of FAS.

Causes and symptoms

Classic features of FAS include short stature, low birth weight and poor weight gain, microcephaly, and a characteristic pattern of facial features. These facial features in infants and children may include small eye openings (measured from inner corner to outer corner); epicanthal folds (folds of tissue at the inner corner of the eye); small or short nose; low or flat nasal bridge; smooth or poorly developed philtrum (the area of the upper lip above the colored part of the lip and below the nose); thin upper lip; and small chin (micrognathy). Some of these features are nonspecific, meaning they can occur in other conditions, or be appropriate for age, racial, or family background. Other major and minor birth defects that have been reported include cleft palate, congenital heart defects, strabismus, hearing loss, defects of the spine and joints, alteration of the hand creases, and small fingernails and toenails.

The diagnosis is sometimes more difficult in older adolescents and adults. Short stature and microcephaly remain common features but weight may normalize, and individuals may actually become overweight for their height. The chin and nose grow proportionately more than the middle part of the face, so that dental crowding may become a problem. The small eye openings and the appearance of the upper lip and philtrum may continue to be characteristic. Pubertal changes typically occur at the normal time.

Newborns with FAS may have difficulties with feeding due to a poor sucking ability, have irregular sleep-wake cycles, decreased or increased muscle tone, seizures, or tremors. Delays in achieving developmental milestones such as rolling over, crawling, walking, and talking may become apparent in infancy. Behavior and learning difficulties typical in the preschool or early school years include poor attention span, hyperactivity, poor motor skills, and slow language development. Attention deficit-hyperactivity disorder (ADHD) is a common associated diagnosis. Learning disabilities or mental retardation may be diagnosed during this time. Arithmetic is often the most difficult subject for a child with FAS. During middle school and high school years, behavioral difficulties and learning difficulties can be significant. Memory problems, poor judgment, difficulties with daily living skills, difficulties with abstract reasoning skills, and poor social skills are often apparent by this time. It is important to note that animal and human studies have shown that neurologic and behavioral abnormalities can be present without the characteristic facial features. These individuals may not be identified as having FAS but may fulfill criteria for alcohol-related diagnoses as set forth by the Institute of Medicine.

In 1991 Streissguth and others reported some of the first long-term follow-up studies of adolescents and adults with FAS. Among the approximately 60 individuals they studied, the average IQ was 68. In the general population, 70 is the lower limit of the normal range. However, the range of IQ was quite large, from as low as 20 (severely retarded) to as high as 105 (normal). The average achievement levels for reading, spelling, and arithmetic were, respectively, fourth grade, third grade, and second grade. The Vineland Adaptive Behavior Scale was used to measure adaptive functioning in these individuals. The composite score for this group showed functioning at the level of a seven-year-old, daily living skills at a level of nine years of age, and social skills at the level of a six-year-old.

In 1996 Streissguth and others published further data regarding the disabilities in children, adolescents, and adults with FAS. Secondary disabilities (that is, those disabilities not present at birth and that might be preventable with proper diagnosis), treatment, and intervention, were described. These secondary disabilities include mental health problems; disrupted school experiences; trouble with the law; incarceration for mental health problems, drug abuse, or a crime; inappropriate sexual behavior; alcohol and drug abuse; problems with employment and dependent living; and difficulties parenting their own children. In that study, only seven out of 90 adults were living and working independently and successfully. In addition to the studies by Streissguth, several other authors in different countries have now reported on the long-term outcome of individuals diagnosed with FAS. In general, the neurologic, behavioral, and emotional disorders become the most problematic for individuals with FAS. Because physical features change over time, correct diagnosis becomes more difficult in older individuals without old photographs and other historical data to review. Mental health problems included attention deficit disorder, depression, panic attacks, psychosis, and suicide threats and attempts, and overall were present in more than 90% of the individuals studied by Streissguth. A 1996 study from Germany reported that more than 70% of the FAS adolescents studied had persistent and severe developmental disabilities. Many had psychiatric disorders, the most common of which were emotional disorders, repetitive habits, speech disorders, and hyperactivity disorders.

Diagnosis

FAS is a clinical diagnosis, which means there are no blood, x ray, or psychological tests that can be performed to confirm a suspected diagnosis. The diagnosis is made based on the history of maternal alcohol use, and detailed physical examination for the characteristic major and minor birth defects, and characteristic facial features. It is often helpful to examine siblings and parents of an individual suspected of having FAS, either in person or by photographs, to determine whether findings on the examination might be familial, or if other siblings may also be affected. Sometimes, genetic tests are performed to rule out other conditions that may present with developmental delay or birth defects. Individuals with developmental delay, birth defects, or other unusual features are often referred to a clinical geneticist, developmental pediatrician, or neurologist for evaluation and diagnosis of FAS. Psychoeducational testing to determine IQ and the presence of learning disabilities may also be part of the evaluation process.

Treatment

There is no treatment for FAS that will reverse or change the physical features or brain damage associated with maternal alcohol use during pregnancy. Most of the birth defects associated with prenatal alcohol exposure, however, are correctable with surgery. Children with FAS should have psychoeducational evaluation to help plan appropriate educational interventions. Common associated diagnoses, such as ADHD, depression, or anxiety should be recognized and appropriately treated. Disabilities that present during childhood persist into adult life; however, some of the secondary disabilities may be avoided or lessened by early and correct diagnosis, better understanding of the life-long complications of FAS, and appropriate intervention. Streissguth has described a model in which an individual affected by FAS has one or more advocates to help provide guidance, structure, and support as the individual seeks to become independent, successful in school or employment, and develop satisfying social relationships.

Prognosis

The prognosis for FAS depends upon the severity of birth defects and brain damage present at birth. Miscarriage and stillbirth, or death in the first few weeks of life, may be outcomes in very severe cases. Some factors that have been found to reduce the risk of secondary disabilities in FAS individuals include diagnosis before the age of six years; stable and nurturing home environments; never having experienced personal violence; and referral and eligibility for disability services. The long-term data help in understanding the difficulties that individuals with FAS encounter throughout their lifetime, and can help families, caregivers and professionals provide care, supervision, education, and treatment geared toward their special needs.

Health care team roles

Pediatricians, obstetricians, family physicians, or nurse practitioners are most likely to make an initial diagnosis of FAS. A clinical geneticist, developmental pediatrician, or neurologist often confirms an initial diagnosis. Other physicians and surgeons may monitor and treat an affected baby. Nurses provide supportive care. Therapists provide support for parents of babies with FAS.

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KEY TERMS

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Cleft palate—An abnormal opening in the roof of the mouth, usually in the midline, so that there is a communication between the nose and mouth cavities.

Congenital—Present at the time of birth.

IQ—Abbreviation for Intelligence Quotient. Compares an individual's mental age, as measured by a test, to a true or chronological age and multiplies that ratio by 100.

Microcephaly—Small head circumference. Head circumference is an indirect measure of brain size.

Miscarriage—Spontaneous pregnancy loss.

Placenta—Organ unique to mammals that serves to exchange nutrients and waste between the maternal and fetal circulations; sometimes called the afterbirth.

Strabismus—Failure of the eyes to move together when focusing on an object; sometimes called lazy eye.

Teratogen—Any drug, chemical, maternal disease, or exposure that can cause physical or functional defects in the embryo or fetus of the exposed mother.

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Prevention

Prevention of FAS is the key to effectively addressing the problem. Prevention efforts must include public education efforts aimed at the entire population, not just women of childbearing age; appropriate treatment for women with high-risk drinking habits; and increased recognition and knowledge about FAS by professionals, parents, and caregivers.

L. Fleming Fallon, Jr., M.D., Dr.P.H.