(A chapter from Adoption and Prenatal Alcohol and Drug Exposure by Barth, Freundlich and Brodzinsky)
Fetal Alcohol Syndrome (FAS) and Fetal Alcohol Effect (FAE) are concerns for parents who are adopting from the former Soviet Union because there are no public health programs to educate women about the deleterious effects of drinking during pregnancy. It should be understood that any child adopted from any part of the world can be potentially exposed to alcohol pre-natally. Children adopted from the U.S. are at risk as well as children adopted from eastern Europe and the former Soviet Union. I will use the terms FAS and FAE since these terms are so popular, but I would like to encourage the use of the descriptive phrases "alcohol related birth defects or alcohol related neurodevelopmental effects" which are also commonly used. I will also use "Russia" instead of the "former Soviet Union" for simplicity and brevity.
This chapter will briefly give an historical perspective of FAS, define FAS and FAE and discuss their medical and psychological manifestations. The epidemiology of alcohol associated birth defects in Russia will be defined. The chapter will touch on the daily practice of diagnosis of FAS and FAE in children adopted from abroad with a short discussion of the current research. There will also be a short discussion of the medical evaluation of children diagnosed with FAS.
Included with this discussion is a bibliography for further reading, a research abstract on the prevalence of FAS in medical abstracts from Russian orphanages, and reproductions of slides from a recent workshop which I conducted on alcohol associated birth defects in Alexandria, Virginia on October 25,1997. The conference was entitled: Adoption and Prenatal Alcohol and Drug Exposure: The Research, Policy and Practice Challenges. The title of my workshop was: Prenatal Drug and Alcohol Exposure in Internationally Adopted Children: Can We Predict the Future? This was a two day workshop sponsored by the Evan B. Donaldson Adoption Institute located in New York City and if you are interested in the presentations and the resources, you can contact them directly for copies of materials.
Historically, since ancient Greek and Roman times and throughout the middle ages, alcohol was well-known to be a cause of damage to the fetus as it lay innocently inside the womb. In fact, the children of women who were known alcoholics, were often cast away and abandoned by society. In modern times, a French group of researchers is credited with the first recognition of an effect on infants due to alcohol exposure during pregnancy (Lemoine et al. Les enfants de parents alcooliques. Ouest Medical. 1968;21:476-492. In 1973, Kenneth L. Jones and David W. Smith from the University of Washington School of Medicine in Seattle, Washington reported a syndrome associated with alcohol in pregnancy. Jones and Smith. Recognition of the Fetal Alcohol Syndrome in Early Infancy. The Lancet, November 3, 1973.
The infants were found to have a pattern of altered growth and development with similar facial features. The craniofacial abnormalities consisted of microcephaly (small head), short palpebral fissures (small eye openings), epicanthal folds (extra skin folds close to the nose), and mid-facial hypoplasia (middle area of face appears flattened). There were many other abnormalities of the body including problems with joints, kidneys, genitals, cleft palate, and the heart. Not all the initial cases reported had all of these abnormalities, but the facial features were consistently identified.
Most recently in 1980 and again in 1989, the Fetal Alcohol Study Group of the Research Society of Alcohol has updated its definition of Fetal Alcohol Syndrome. There must be a documented history of alcohol use in the maternal history before applying any of the following criteria. Then there should be signs of abnormality in each of 3 categories:
It is essential to understand that it is not just the face and head which are affected by alcohol. This is a multisystem disease. This is not fully appreciated since most of our time is spent trying to identify and recognize the characteristic facial features to make the diagnosis. Included with this chapter is a table that was published in Pediatrics May 1993 as part of their Committee on Substance Abuse and Committee on Children with Disabilities statement on FAS and FAE; the table was constructed from publications authored by Streissguth in 1986, Clarren and Smith in 1978, and Jones in 1986. The table illustrates the full range of organ system involvement. In the context of the medical evaluation of children with FAS, I will amplify some of the medical manifestations later in this discussion.
How does alcohol affect a growing and developing embryo or fetus? We still do not know the exact mechanisms for alcohol induced malformations, but theoretically, the alcohol may have a direct toxic effect. Alcohol is metabolized to other substances like acetaldehyde; this substance is embryotoxic in rodents. It is not clear at what level this toxic effect occurs, but in rodent studies, impairment of cellular transport functions did occur at even low levels of acetaldehyde.
Prostaglandins may also be involved in the pathophysiology of alcohol toxicity. It has been postulated that alcohol may interfere with prostaglandin metabolism and may interfere with the normal balance and regulation of placental blood flow. The placenta is the organ created early in pregnancy for delivering oxygen and nutrients to the developing embryo and fetus.
Finally, if there is decreased blood-flow to the fetus, there will be insufficient oxygen and essential nutrients. Chronic hypoxia (decreased oxygen) has been implicated in the etiology of alcohol related birth defects. Studies have attempted to define the exact amount of alcohol necessary to produce the fetal alcohol syndrome. It is possible that with first trimester exposure, the newborn will have more structural abnormalities since that is the critical period of organogenesis (development of the organs of the body) for the embryo. With only second and third trimester exposure to alcohol, perhaps the fetus will have more behavioral and psychological dysfunction, without structural abnormalities which is more consistent with a fetal alcohol effect (FAE). This is very simplified. A single known dosage of alcohol responsible for producing the vast range of abnormalities in FAS has not yet been identified, nor is the lowest harmless dose of alcohol known. Evidence suggests that transient, high concentrations of alcohol, like those associated with binge drinking, can be especially devastating. Obviously, women should abstain completely from ingesting alcohol during pregnancy.
What is the worldwide incidence of FAS? Ernest L. Abel and Robert J. Sokol published an article in Drug and Alcohol Dependence in 1987 entitled "Incidence of Fetal Alcohol Syndrome and Economic Impact of FAS-Related Anomalies". This article is a comprehensive review of the data as we know it up until the late 1980's. The worldwide incidence of FAS is 1.9 per 1000 live births. Incidence rates vary considerably, depending on the region of the world. They reviewed studies from Australia, Canada, Finland, France, Sweden, Switzerland, and England. The studies from the United States were from Boston, Cleveland, Denver, Loma Linda, Seattle, and the American Southwest. The studies reflect white, Black, Native American, middle class, inner city, and suburban populations. It is clear that certain socioeconomic groups have a greater incidence of FAS. Some Native American populations have the highest incidence in the world (Apache, Ute 19.5 per 1000 births). Mental retardation is a major feature of FAS and FAS is now recognized as the leading known cause of mental retardation in the Western world. The economic impact of FAS is staggering. In the United States, the economic cost associated with FAS-related growth retardation, surgical repair of organic anomalies (cleft palate, cardiac anomalies), treatment of hearing deficits, and mental retardation, is $321 million per year according to Abel et al.
Why are alcohol-associated birth defects so prevalent in children adopted from Russia? The Environmental and Health Atlas of Russia edited by Murray Feshbach in 1995 is an excellent primary source of statistics regarding social, economic, and health issues in Russia. In 1993 the number of alcoholics in Russia rose by 40.8%. There was a stunning increase in alcoholism in women by 48.1%. 80-94% of girls between 15 and 17 drank sometimes and 17% drank often. The difference between urban and rural drinking habits were not statistically significant. Adolescent pregnancy and pregnancy among middle age women is on the rise in Russia. Abortions are common. It is not unusual to read medical abstracts of children in orphanages with maternal histories of greater than five pregnancies.
I recently reviewed 131 Russian medical abstracts. Seventeen of the abstracts revealed maternal alcohol ingestion during pregnancy. Of these 17 medical abstracts, two children met the strictest criteria for the diagnosis of FAS. This is a rate of 1.53% or 15 per 1000 births. The worldwide incidence is 1.9 per 1000 births according to Abel et al as discussed above. The rate of FAS in Russia is potentially eight times greater than the worldwide incidence based on my analysis. The birthrate in Russia is 1.4 million per year. With an incidence of FAS of 15 per 1000 live births, there could be 20,000 children with FAS born each year.
In my work as a pediatrician caring for children adopted from abroad, I have established a protocol for the evaluation of children suspected of FAS. If there is a documented history of alcohol exposure during pregnancy from the medical abstract from the country of origin, I then focus on the facial features and the growth parameters, particularly the head circumference. Once the criteria have been met, I discuss the findings with the parents. If I have reviewed the medical abstract and video with the family before the adoption, then we have definitely discussed the possibility of FAS or FAE. If there were no facial features consistent with FAS, but the mother had a history of alcohol ingestion, then we discuss FAE. What is FAE? It is definitely not mild FAS!
Children born to women who drank alcohol excessively during pregnancy appear to be at increased risk for attention deficit disorders with hyperactivity, fine-motor impairment, and clumsiness as well as more subtle delays in motor performance and speech disorders according to Ann Streissguth. In the absence of growth retardation or congenital abnormalities, this is what we call Fetal Alcohol Effect or Alcohol related neurodevelopmental effects. FAE usually is not apparent until the child is in a social setting like school. Typically, when children enter pre-school, behavioral problems surface and the issue of the FAE is then re-visited.
If a child has FAS with all of the classic facial features, I counsel parents regarding the eventuality of mild to moderate mental retardation and behavioral problems. About 50% of children with FAS also have poor coordination, hypotonia, and attention deficit disorder with hyperactivity. 20-50% of children with FAS demonstrate a variety of other birth defects/anomalies which I referred to earlier in this discussion. The major systems of concern are cardiac, vision, hearing, and urogenital. See the table discussed earlier for a comprehensive list.
With the possibility of other anomalies being so high, I recommend the following medical evaluations. All children with FAS have a comprehensive hearing test at an audiology center or at an ear, nose, and throat specialist's office. Children with FAS frequently have been to the ENT physician before I even get the hearing test because they have a predisposition to ear infections with chronic persistance of fluid behind the ear drum. This can interfere with normal hearing. Children with FAS may actually have sensorineural hearing deficits (8th nerve deafness) as well as conductive hearing loss (fluid interferes with conduction of sound in the middle ear).
I usually send the children for an echocardiogram and electrocardiogram (EKG) to evaluate their hearts because children with FAS have a significant risk of cardiac abnormalities (ventricular septal defect, atrial septal defect, tetralogy of Fallot, and great vessel abnormalities).
A referral to the pediatric ophthalmologist is a must for children with FAS. They all eventually wear glasses. A large percentage of these children have strabismus (lazy eye) which is easily diagnosed by the pediatrician. The child is evaluated by the ophthalmologist and the stronger eye is usually patched to strengthen the weaker eye. The globe of the eye is smaller in a child with FAS and the shape of the eyes affects the visual capacity of the eyes. Glasses ameliorate the refractive errors.
A sonogram of the kidneys is also advisable because hydronephrosis, horseshoe kidneys, and other rotational abnormalities of the kidneys may eventually affect the kidney function.
When an adopted child from abroad is first evaluated in my office, I perform a complete developmental screening test (Denver Developmental Screening Test/Denver II) which encompasses an assessment of the child's personal-social, fine-motor adaptive, language, and gross motor development. If the child is delayed, I recommend early intervention services through the department of health in the community where the family resides. In New York State, early intervention services are free through the department of health from birth through 36 months. After the child's third birthday, the child is evaluated by a child study team in the school district of the family's home. Children with FAS need to be aggressively evaluated as soon as they arrive in the United States because of the multisystem involvement. Since language and memory are target problems for children with FAS, special school programs with an emphasis on the individual are essential. Practical goals with a focus on the activities of daily living is of the utmost importance in the education of children with FAS. Parental and teacher expectations should be practical and a team approach has been very successful for these children. For a detailed review of how to address the specific learning problems of children with FAS please refer to Ann Streissguth's new text referenced in the bibliography of this chapter.
For families with children who have by history been exposed to alcohol, I talk with them about the potential for behavioral and learning problems and I perform detailed developmental evaluations with each well-child visit. When the child enters nursery or pre-school, we again re-visit the potential for behavior and learning problems in children with exposure to alcohol. Since this is such an unpredictable diagnosis, I try to be sensitive to the family's anxieties about this diagnosis. It is important to keep the diagnosis in the back of one's mind, but it is also important to protect the family from an over-diagnosis syndrome. In recent years, educators and lay individuals have been quick to diagnose any child with learning disabilities with fetal alcohol effect. As problematic, is the immediate label of FAE for a child who has had a known exposure to alcohol in utero and who is having school problems.
Many children who are exposed to alcohol will have no perceptible learning or behavioral problems. Behavioral and learning problems can be very subtle and it may be impossible to distinguish the level of dysfunction from what we expect from a normal population of children.
What are the diagnostic dilemmas for Fetal Alcohol Syndrome? If I am just evaluating video and medical prior to an adoption, then a lot of the diagnosis rests on the clarity and detail of the video. If the video does not show good close-ups, it can be near impossible to discern the subtlety of the classic facial characteristics of FAS. If photographs are the only tools offered in evaluating the child, then the diagnosis may be truly impossible because the quality of the photographs is usually poor. Photographs are taken by adoption agency personnel in poorly lit rooms. The children are moving targets and the photos are usually not en face. The angle of the photo can cause the upper lip to appear almost paper thin. Most of the photographs are then copied and then faxed. The detail can be completely lost with just a few copies and then followed a few too many fax copies. A child's ethnic background can alter the way we diagnose FAS. There are very Asian looking Russian children and some of the features described as classic to FAS are so close to Asian features. The epicanthal folds are just one example. The mid-facial hypoplasia can also be very much a part of an Asian-appearing face. There are also genetic syndromes which can be confused with FAS, such as , fetal hydantoin syndrome which is caused by exposure to phenytoin (Dilantin is a seizure medication) during pregnancy.
During the first year of life the bone and muscles of the face are changing rapidly. It may be impossible early in infancy to diagnose FAS, but when the growth has slowed during the second year of life, the features may be more easily characterized. One must be careful to re-analyze the facial features as the child grows if the history of alcohol exposure has been documented.
A recent article entitled "A case definition and photographic screening tool for the facial phenotype of fetal alcohol syndrome" published in the Journal of Pediatrics July 1996 (Susan J. Astley and Sterling K. Clarren) revealed a technique using the computerized evaluation of facial photographs. The number of children used in the study were small (42). Was there enough of a racial mix in the study? No. There were no children who were adopted from Russia in the sample. Perhaps this tool will become useful in the future with more refinement, but right now, I would hesitate to embrace this technique.
What do we know about the life outcomes of children diagnosed with FAS? There are many research articles which you can review which in summary reveal that the prognosis has generally been poor. Children have been followed into adolescence and adulthood by Ann Streissguth and the children who continued to live in the environment without adoption into new families, did very poorly. These individuals did not attain independent lives and had severe and complex secondary disabilities. Her newest publication "The Challenge of Fetal Alcohol Syndrome: Overcoming Secondary Disabilities"was recently released in November 1997. This is probably the most comprehensive compilation of cutting edge research on FAS/FAS. It offers therapeutic recommendations which will probably create new hope for the future of individuals with FAS/FAE.
Children who are adopted into new families whether foster, foster kinship, or adoptive, have a better prognosis than children who stay in an environment where drugs and alcohol continue to be used by parents or caretakers. This finding has been confirmed by research by Richard P. Barth, Ph.D. from the University of California at Berkeley in "Outcomes for Drug-Exposed and Non Drug-Exposed Adopted Children at Four and Eight Years" recently presented at the Evan B. Donaldson Institute adoption conference in Virginia in October 1997.
Newer research has confirmed a better prognosis for children with FAS who were adopted into new families. Generalizations about the fate of alcohol exposed children cannot be made. We have certainly not had enough time to follow children adopted from Russia. The great wave of Russian adoption is only a few years old and it is an evolving picture. The infants and toddlers who have been adopted in last few years will be entering school and then we will begin to see how these youngsters fare. I am optimistic and I convey these feelings to the families who are part of my practice.
For more information about FAS and FAE, visit the Medical Resources/Fetal Alcohol Syndrome section of this site.
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