Transcript Fetal Alcohol Syndrome - Assembly of European Regions

Fetal Alcohol Syndrome
Anita Olejek
Regional Consultant for Gynaecology and Obstetrics,
Silesia, Poland
Medical University of Silesia
Definition
• Fetal Alcohol Syndrome (FAS) is a disorder that can
occur to the embryo when a pregnant woman ingests
alcohol during pregnancy.
History
• The earliest known observation of possible links
between maternal alcohol use and fetal damage
was made in 1899 by Dr. William Sullivan, a
Liverpool prison physician
• He noted higher rates of stillbirth for 120 alcoholic
female prisoners than their sober female relatives;
he suggested the causal agent to be alcohol use
History
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Later on, it has been repeatedly noted, that
children born by mothers addicted to alcohol had:
excessive mortality in the early childhood,
high incidence of epilepsia
signs of mental retardation
physical abnormalities
These facts were already noted in the 19th
centrury, however the interest in this topic
decreased during the Prohibition period
(1919-1933).
Early research
• First scientific discoveries identifying the
syndrome were performed in 1968, when Lemoine
from Nantes (France) published the results of his
research
• He followed the children of the heavily drinking
mothers for almost 30 years
• This is a first time when this syndrome has been
really described
• The term „Fetal Alcohol Syndrome” has been
hovewer introduced later
Recognition as a syndrome
• Fetal Alcohol Syndrome was named in 1973 by two
morphologists, Jones and Smith of the University of
Washington in the United States
• They identified a pattern of "craniofacial, limb, and
cardiovascular defects associated with prenatal
onset growth deficiency and developmental delay"
in eight unrelated children of three ethnic groups, all
born to mothers who were alcoholics
• The pattern of malformations indicated that the
damage was prenatal.
What do we know today?
• Development of FAS is dependent on many factors
• Important is: frequency of drinking, alcohol intake,
part of pregnancy most exposed to drinking,
nutritional status and concomitant use of various
drugs
• Genetic predispositions may have a limited, but also
significant influence
• Each etnic and racial group is equally at risk
• General health status of the pregnant woman is
essential. Healthy lifestyle is extremely protective.
There is no such thing as „safe
drinking”in pregnancy
Even a small amount of regular drinking
may lead to the development of FAS.
Typical clinical picture
The following criteria must be met to confirm
a diagnosis of FAS:
1. Growth deficiency - Prenatal or postnatal height
or weight (or both) at or below the 10th
percentile
2. FAS facial features - all FAS facial features
present
3. Central nervous system damage - clinically
significant structural, neurological, or functional
impairment
4. Prenatal alcohol exposure - confirmed or
unknown prenatal alcohol exposure
FAS facial features
1.
A smooth philtrum - the divot or groove between the
nose and upper lip flattens with increased prenatal
alcohol exposure.
2.
Thin vermilion - the upper lip thins with increased
prenatal alcohol exposure.
3.
Small palpebral fissures - eye width decreases with
increased prenatal alcohol exposure.
In some cases, facial deformations are seen
already at birth or in the early childhood
Central nervous system damage
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three areas: structural, neurological, and functional
impairments
structural impairments may include microcephaly (small
head size), or other abnormalities in brain structure
neurological impairment may be classified into hard
signs (epilepsy or other seizure disorders) and soft signs
(such as impaired fine motor skills, neurosensory
hearing loss, poor gait, clumsiness, poor eye-hand
coordination, or sensory integration dysfunction)
functional impairment is often referred to as
developmental disabilities and includes: learning
disabilities, academic achievement, impulse control,
social perception, communication, abstraction, math
skills, memory, attention and judgment.
Related signs
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stemming from prenatal alcohol exposure. However,
these conditions are considered Alcohol-Related Birth
Defects and not diagnostic criteria for FAS.
Includes:
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Cardiac - a heart murmur that frequently disappears by
one year of age.
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Skeletal - joint anomalies including abnormal position
and function, altered palmar crease patterns, small distal
phalanges, and small fifth fingernails.
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Renal - aplastic, dysplastic, or hypoplastic kidneys.
Apart from all these symptoms, there is an
intelectual and emotional impairment
Related disorders
• Fetal Alcohol Effect (FAE) – used when drinking
in pregnancy is documented and some FAS
criteria are present
• Alcohol Related Neurodevelopmental Disorer
(ARND)
• Fetal Alcohol Related Conditions (FARC)
• Alcohol Related Birth Deformations (ARBD)
Neuropsychological disturbances
memory
coordination
reading and writing
concentration
speech
mood
motivation
Research performed on 61 young patients with FAS
was able to demostrate, that levels of IQ were
generally not that bad (68, while 2.5% of the general
population has IQ around 70).
Recognition of words was acceptable, but reading with
understanding was much worse in all the tests performed.
FAS in the early childhood
• Many children are born with signs of “delirium
tremens” - this indicates a potential of epilepsia in
the nearest future.
• As newborns, children with FAS may have
impaired coordination and abnormal sleep
patterns.
• Later in their childhood, they may have problems
with concentration, cannot distinguish colours and
assess time. Their vocabulary is very poor.
FAS later on...
• At school, children with FAS usually experience
major problems, even if their IQ is average or only
slightly below that value.
• Such children cannot assess the situation properly
and predict the consequences of their behaviour.
They also do not learn from mistakes.
• They ignore warnings and require continuous
repetition of the given instruction. Lack of thank
discourages people trying to guide them.
Important issue!
• Children with FAS are easily involved in
minor crimes, inappropriate sexual
behaviour and alcohol or drug abuse.
• This is the main reason why women with
FAS have a higher probability to have
children with FAS (but FAS is not a
genetic, inherited disorder!)
Fetal Alcohol Effect (FAE)
• Not all the children born from mothers who drunk
alcohol during the pregnancy have a full-blown
FAS syndrome. If drinking is sporadic, physical
and mental abnormalities may not be easily traced.
• Children may have normal IQ but serious
problems at school.
• Such “uncomplete” syndrome is sometimes
referred as Fetal Alcohol Effect (FAE).
Management of FAE
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very complicated
level of intelligence actually normal
patterns of social behaviour abnormal
such people, even if their IQ is satisfactory,
should only work under a strict supervision,
and have to be constantly controlled.
Epidemiology of FAS
• Most reliable research in the USA shows that there
are 5000-10000 births of children with FAS every
year
• That means that on the average there are 3/1000
(0.3%) live births of children with FAS (for
women known to be alcoholic this figures are
2.5%).
• In the United States, FAS is a leading cause of
mental retardation, apart from Down’s syndrome.
Epidemiology of FAE
• Lack of reliable data
• It is concluded that up to 8-10% of all cases
of mental retardation in the USA may be
due to FAS.
• In the Indian reserves (where alcoholism is
an epidemic) as much as 25% of children
may have some symptoms of FAE.
Situation in Silesia
• Largely unknown
• There are no data on the real amount of
women drinking alcohol during pregnancy
(no records)
• Main reasons – women who drink excessive
alcohol when pregnant feel shame and
accuse themselves but do not report this to
the physician
• They also fear of repressions from their
social enviroment
What could be done?
• Observation shows that most women are aware of
the fact that drinking in pregnancy is dangerous.
• Public education campaign may discourage
moderately drinking women
• This is however not effective in heavily drinking
and alcoholics. Women from these groups are best
treated directly by their physicians.
Limitations
• Unfortunately, physicians feel constrained and
ashamed to ask women for their alcohol problems.
• Institutions taking care of pregnant women should
therefore create systematic, problem-specific
questionnaires exploring the problem of alcohol
intake during pregnancy. This information should
be later transferred to patient’s records.
Animal studies suggest that pregnancy is more at risk when
alcohol is given in large single doses (occasional binge
drinking).
Moreover, the consequences of heavy drinking in the early
pregnancy may persist even if drinking was completely
stopped in the second and third trimester.
Consequences of alcohol intake
in pregnancy
First trimester:
• Brain damage
• Attenuation of cell
development
• Heart and kidneys damage
• Face deformation
• Abortion
Second trimester:
• Attenuation of brain
development
• Damage of muscles, skin,
bones, teeth
• Abortion
Third trimester:
• Attenuation of brain and
lungs development
• Attenuation of growth
No one
knows what
amount of
alcohol is
safe for a
pregnant
woman
This is why
women are
advised to
stop
drinking
alcohol
completely
during
pregancy