Fetal alcohol syndrome



Fetal Alcohol Syndrome 2242
Photo by: Dmitry Naumov

Definition

Fetal alcohol syndrome (FAS) is a set of physical and mental birth defects that can result from a woman drinking alcohol during her pregnancy. The syndrome is characterized by brain damage, facial deformities, and growth deficits. Heart, liver, and kidney defects are also common, as well as vision and hearing problems. These infants generally have difficulties with learning, attention, memory, and problem solving as they get older.

Description

Although there is a wide range of effects that result from in utero alcohol exposure, the diagnosis of FAS is recognized as the most severe birth defect that occurs. Fetal alcohol effect (FAE) is a term used to describe alcohol-exposed individuals whose condition does not meet the full criteria for an FAS diagnosis. The term alcohol-related neurodevelopmental disorders (ARND) is used for individuals with functional or cognitive impairments linked to prenatal alcohol exposure, including decreased head size at birth, structural brain abnormalities, and a pattern of behavioral and mental abnormalities. Alcohol-related birth defects (ARBD) describes the physical defects linked to prenatal alcohol exposure, including heart, skeletal, kidney, ear, and eye malformations.

FAS is the leading known preventable cause of mental retardation and birth defects. It affects one in 100 live births or as many as 40,000 infants born each year in the United States, and it is felt that the incidence is significantly under-reported. An individual with FAS can incur a lifetime health cost of over $800,000. In 2003, FAS cost the United States $3.9 billion in direct costs with indirect costs at approximately $1.5 billion. Children do not outgrow FAS. The physical and behavioral problems can last a lifetime. The syndrome is found in all racial and socio-economic groups. It is not a genetic disorder, so women with FAS or affected by FAS have healthy babies if they do not drink alcohol during their pregnancy.

Causes and symptoms

Alcohol is readily absorbed from the gastrointestinal tract into a pregnant woman's bloodstream and circulates to the fetus by crossing the placenta. Here it interferes with the ability of the fetus to receive sufficient oxygen and nourishment for normal cell development in the brain and other organs. The consumption of alcohol directly contributes to malnutrition because it contains no vitamins or minerals , and it uses up what the woman has for metabolism. Studies suggest that drinking a large amount of alcohol at any one time may be more dangerous to the fetus than drinking small amounts more frequently. The fetus is most vulnerable to various types of injuries depending on the stage of development in which alcohol is encountered. During the first eight weeks of pregnancy, organogenesis (the formation of organs) is taking place, which places the embryo at a higher risk of deformities when exposed to teratogens. Since a safe amount of alcohol intake during pregnancy has not been determined, twenty-first century authorities agree that women should not drink at all during pregnancy. A problem is that many women do not realize they are pregnant until the sixth to eight week. Therefore, women who are anticipating a pregnancy should abstain from all alcoholic beverages.

Unlike many birth defects which are identified at birth and then treated, FAS and FAE are usually overlooked at birth and treated later by mental health specialists, and often unknowingly. Possible FAS symptoms include:

  • growth deficiencies: small body size and weight, slower than normal development, and failure to catch up
  • skeletal deformities: deformed ribs and sternum; curved spine; hip dislocations; bent, fused, webbed, or missing fingers or toes; limited movement of joints; small head
  • facial abnormalities: small eye openings; skin webbing between eyes and base of nose; drooping eyelids; nearsightedness; strabismus ; failure of eyes to move in same direction; short upturned nose; sunken nasal bridge; flattened or absent groove between nose and upper lip; thin upper lip; cleft palate (opening in roof of mouth); small jaw; low-set or poorly formed ears
  • organ deformities: heart defects, heart murmurs , genital malformations, kidney and urinary defects
  • central nervous system handicaps: small brain; faulty arrangement of brain cells and connective tissue; mental retardation (usually mild to moderate but occasionally severe); learning disabilities; short attention span; irritability in infancy; hyperactivity in childhood; poor body, hand, and finger coordination

Since the primary birth defect in FAS and FAE involves central nervous system damage in utero, these newborns may have difficulties with feeding due to a poor suck, have irregular sleep-wake cycles, decreased or increased muscle tone, and 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 . A common diagnosis that is associated with FAS is attention deficit-hyperactivity disorder. 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, the 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 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. In the approximate 60 individuals they studied, the average IQ was 68 (70 is the lower limit of the normal range). However, the range of IQ was quite large, as low as 20 (severely retarded) to as high as 105 (normal). The average achievement levels for reading, spelling, and arithmetic were fourth grade, third grade, and second grade, respectively. 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 were at a level of nine years, and social skills were 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 (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; 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 as of the early 2000s reported on long term outcome of individuals diagnosed with FAS. In general, the neurologic, behavioral, and emotional disorders become the most problematic for individuals. The physical features change over time, sometimes making the correct diagnosis more difficult in older individuals, without old photographs and other historical data to review. Mental health problems, including attention deficit, depression, panic attacks, psychosis, suicide threats and attempts, were present in over 90 percent of the individuals studied by Streissguth. A 1996 study in Germany reported more than 70 percent of the adolescents they followed had persistent and severe developmental disabilities, and many had psychiatric disorders, the most common of which were emotional disorders, repetitive habits, speech disorders , and hyperactivity disorders. (Some of the above information derives from Ann Streissguth's book, Fetal Alcohol Syndrome: A Guide for Families and Communities , which appeared in 1997.)

Diagnosis

FAS is a clinical diagnosis, which means that there is no blood test, x ray, or psychological test that can be performed to confirm the 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 and if other siblings may also be affected. Individuals with developmental delay or birth defects may be referred to a clinical geneticist for genetic testing or to a developmental pediatrician or neurologist for evaluation and diagnosis of FAS. Psychoeducational testing to determine IQ and/or 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 the pregnancy. Most of the physical birth defects associated with prenatal alcohol exposure are correctable with surgery. Children should have psychoeducational evaluation to help plan appropriate educational interventions. Commonly associated diagnoses as attention deficit-hyperactivity disorder, depression, or anxiety should be recognized and treated appropriately. The disabilities that present during childhood persist into adult life. However, some of the secondary disabilities already mentioned may be avoided or lessened by early diagnosis and intervention. Streissguth has describe 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 on the severity of birth defects and the brain damage present at birth. Miscarriage, stillbirth, or death in the first few weeks of life may be outcomes in very severe cases. Major physical birth defects associated with FAS are usually treatable with surgery. Some of the 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 others understand the difficulties that individuals with FAS encounter throughout their lifetimes and can help families, caregivers, and professionals provide the care, supervision, education, and treatment geared toward their special needs.

A boy with fetal alcohol syndrome, a birth defect caused by his mother consuming alcohol during pregnancy. (Photograph by David H. Wells. Corbis.)
A boy with fetal alcohol syndrome, a birth defect caused by his mother consuming alcohol during pregnancy.
(Photograph by David H. Wells. Corbis.)

Parental concerns

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

KEY TERMS

Cleft palate —A congenital malformation in which there is an abnormal opening in the roof of the mouth that allows the nasal passages and the mouth to be improperly connected.

Congenital —Present at birth.

Intelligence quotient (IQ) —A measure of somebody's intelligence, obtained through a series of aptitude tests concentrating on different aspects of intellectual functioning.

Microcephaly —An abnormally small head.

Miscarriage —Loss of the embryo or fetus and other products of pregnancy before the twentieth week. Often, early in a pregnancy, if the condition of the baby and/or the mother's uterus are not compatible with sustaining life, the pregnancy stops, and the contents of the uterus are expelled. For this reason, miscarriage is also referred to as spontaneous abortion.

Organogenesis —The formation of organs during development.

Placenta —The organ that provides oxygen and nutrition from the mother to the unborn baby during pregnancy. The placenta is attached to the wall of the uterus and leads to the unborn baby via the umbilical cord.

Strabismus —A disorder in which the eyes do not point in the same direction.

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

Resources

BOOKS

Armstrong, Elizabeth M. Conceiving Risk, Bearing Responsibility: Fetal Alcohol Syndrome and the Diagnosis of Moral Disorder. Baltimore, MD: Johns Hopkins University, 2003.

Fetal Alcohol Syndrome No. V: Index to New Information. Washington, DC: A B B E Publishers Association, 2005.

Golden, Janet. Message in a Bottle: The Making of Fetal Alcohol Syndrome. Cambridge, MA: Harvard University Press, 2005.

Kleinfeld, Judith, et al. Fantastic Antone Grows Up: Adolescents and Adults with Fetal Alcohol Syndrome. Fairbanks, AK: University of Alaska, 2000.

PERIODICALS

Committee of Substance Abuse and Committee on Children with Disabilities. "Fetal Alcohol Syndrome and Alcohol-Related Neurodevelopmental Disorders." Pediatrics 106 (August 2000): 358–61.

Hannigan, J. H., and O. R. Armant. "Alcohol in Pregnancy and Neonatal Outcome." Seminars in Neonatology 5 (August 2000): 243–54.

ORGANIZATIONS

Fetal Alcohol Syndrome Family Resource Institute. PO Box 2525, Lynnwood, WA 98036. Web site: http://www.fetalalcoholsyndrome.org.

March of Dimes Birth Defects Foundation. 1275 Mamaroneck Ave., White Plains, NY 10605. Web site: http://www.modimes.org.

National Institute on Alcohol Abuse and Alcoholism. 5635 Fishers Lane, MSC 9304, Bethesda, MD 20892–9304. Web site: http://www.niaaa.nih.gov/.

National Organization on Fetal Alcohol Syndrome (NOFAS). 900 17th Street, NW, Suite 910, Washington, DC 20006. Web site: http://www.nofas.org.

Linda K. Bennington



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