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.
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:
- Prenatal and/or postnatal growth retardation (weight, length, or head circumference
alone or in combination) below the 10th % when corrected for gestational age
- Central nervous system involvement (including neurological abnormality, developmental
delay, behavioral dysfunction or deficit, intellectual impairment and /or structural
abnormalities, such as microcephaly (head circumference < 3rd %) or brain
malformations found on imaging studies
- A characteristic face, currently qualitatively described as including short palpebral
fissures, an elongated midface, a long and flattened philtrum, thin upper lip, and
flattened maxilla
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. 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 was
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.
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 persistence 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.
Other research presented by Dr. Ira J. Chasnoff which is in press, 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.