MfA - Fetal ALcohol Syndrome

Medicine for Africa - Medical Information Service

ETAL LCOHOL YNDROME

Definition:

Fetal Alcohol Syndrome – or FAS – is the direct result to the unborn, newborn and growing child of a mother who ingested alcohol in various amounts during her pregnancy.

The dangers of alcohol during pregnancy have long been suspected; however, it was only in 1968 that the formal picture of Fetal Alcohol Syndrome – FAS – was described by a French doctor (P. Lemoine) and his colleagues, who described their findings in 127 children of alcoholic parents.

FAS is an extremely widespread condition, not only worldwide, but especially in Africa, in underserved and less privileged communities, such as e.g. townships in South Africa and elsewhere. Grave social inequalities and local high unemployment rates often give rise to an environment, in which alcohol abuse thrives in both men and women.

Alcohol consumed during pregnancy, especially within the first trimester is capable of resulting in a spontaneous abortion or causing a series of birth defects in the newborn baby. Nowadays, alcohol is recognized as the leading teratogen (any substance that disturbs embryonal or fetal development), to which a fetus is likely to be exposed in societies, where alcoholic beverages are consumed.

Since alcohol can easily pass through the placenta and enter the baby’s bloodstream, FAS is not only caused by the direct teratogenic effects of the alcohol itself, but also by some of the byproducts that are generated during the metabolism (processing) of alcohol.

The more alcohol the mother drinks during her pregnancy, the more pronounced and overt the signs of FAS in her offspring. While one could scientifically quantify the amount of alcohol that is – definitely causing FAS, – may most likely cause FAS, – may probably cause FAS, – may potentially cause FAS, or – may probably not cause FAS, it is also clear that statistics do not mean that just one drink at a sensitive time of fetal development may already result in one or more FAS related symptoms in your child. Thus, in order to be ‘better safe than sorry’, a woman should completely abstain from alcohol during her entire pregnancy.

Some of the complications that may be the result of alcohol consumption include:

Miscarriage – spontaneous abortion or stillbirth;
Premature delivery of an immature baby;
Psychological and behavioral problems (impulsive behavior);
Mental retardation – poor memory, attention deficit;
Slow growth and poor coordination;
Poor growth and development of the growing fetus – low body weight;
Developmental (structural) problems of the head, eyes, nose and mouth – facial stigmata;
Various problems in the development of heart, kidneys, bones and ears (hearing difficulties);
Infant death.

In recent times, FAS has often been medically subdivided into three categories, depending on the developmental disorders of the child, and then termed ‘Fetal Alcohol Syndrome Disorders’ – FASDs:

Alcohol Related Birth Defects – ARBD – children may have problems with the heart, bones, kidneys and hearing;
Alcohol Related Neurodevelopmental Disorders – ARND – intellectual disabilities, behavior and learning problems; poor school performance with difficulties in memory, attention, judgment, mathematics, and poor impulse control;
Fetal Alcohol Syndrome – FAS – the most severe form of the FASDs; the child may have abnormal facial features, growth retardation, central nervous system (CNS) problems; problems with memory, attention span, learning anything, communication (getting along with other people), vision and hearing; FAS often results in fetal death.

FAS is the leading cause of intellectual disability, not only in developed countries, and a serious burden on social healthcare expenditures to any country.

FAS SUMMARY:

Alcohol is capable of causing multiple birth defects.
FAS always results in brain damage in the child.
FAS always impairs the growth of the baby.
FAS always involves head and face abnormalities.
No amount of alcohol is ‘safe’ during pregnancy.
Women, who are or want to become pregnant, should avoid alcohol entirely.

Symptoms:

A child with any form of FASD may have some or all of the following symptoms:

Poor fetal growth during pregnancy and after birth;
Sleep and sucking problems as a baby;
Decreased muscle tone and poor coordination – problems walking, clumsiness;
Heart murmurs and defects such as:
- Atrial septal defect (ASD);

Ventral septal defect (VSD);

Small head size – microcephaly, mild to moderate, due to failure of the brain to grow, with central and peripheral nervous system problems;
Abnormal facial features:

Narrow, small eyes with the upper eyelid covering the inner (medial) corner of the eye (epicanthal fold);
Smooth ridge between the nose and upper lip (philtrum);
Smooth groove in upper lip, smooth and thin upper lip;
Small upper jaw;
Dental problems – malalignment and/or malocclusion of the teeth;

Shorter-than-average height – mild to moderate;
Low body weight – mild to moderate;
Poor coordination – impairment of fine motor skills, poor hand-eye coordination, weak grasp and tremors;
Hyperactive behavior and irritability;
Difficulty paying attention;
Poor memory;
Difficulty in school (especially with mathematics);
Learning disabilities;
Speech and language delays;
Intellectual disability and low IQ (intelligence quotient) in the mid 60s – mild to moderate mental retardation;
Poor reasoning and judgment skills – lack of self-discipline and irresponsibility;
Vision or hearing problems – nearsightedness (myopia) and malformations of the eustachian tube, resulting in frequent ear infections and subsequently possible deafness;
Developmental problems with skeleton:

Abnormal joint positioning and function;
Short metacarpal bones to the fourth and fifth finger, short distal phalanx (last bone) in all fingers;
Small fifth fingernail;
Single transverse (simian) crease across the palm of the hand;
Spina bifida – failure of bone closure of the lumbar (lower) vertebral column;
Hydrocephalus – large head due to water retention within the skull;

Developmental problems of the kidneys:

Horseshoe kidneys – both kidneys are joined together at their lower pole, forming a ‘horseshoe;
Hypoplastic kidneys – reduced number of normal developed nephrons;
Dysplastic kidneys – multiple cysts replace nephrons;
Aplastic kidneys – nephrons replaced by fibrous tissue;

And many other, less significant or specific features and/or symptoms.

Some, but not all of the structural malformations can be treated by surgery; however, none of the mental dysfunctions can be successfully treated.

Diagnosis:

FAS is a diagnosis with big consequences for the entire lifetime of the child, and thus, a diagnosis of FAS must be made with great care. Since there is no specific laboratory test available, nor is there any one definite clinical feature that specifically identifies FAS, the diagnosis must be based on solid evidence.

By convention, a diagnosis of FAS must meet all of the following criteria:

Prenatal alcohol exposure – confirmed or unknown prenatal alcohol exposure;
Growth retardation – prenatal and postnatal height and/or weight at or below the 10th percentile;
FAS facial features – some symptoms of all three facial feature groups must be present:

Small head size – microcephaly;
Small eyes – microphthalmia and/or short eye opening between upper and lower eyelids (palpebral fissure);
Underdevelopment of the upper lip (small vermillion border) and/or smooth ridge between the upper lip and nose (philtrum) and flattened cheekbones;

Brain involvement – CNS damage with clinically significant developmental, neurological and functional/intellectual impairment.

Care has to be taken in making the diagnosis of FAS as individual symptoms may easily be confounded with many other disorders (e.g. fetal hydantoin syndrome, mother’s phenylketonuria [PKU] fetal effects, Noonan syndrome, Toluene syndrome, Williams syndrome, and others).

In addition, a thorough physical exam of the baby may reveal a heart murmuror other heart problems and additional structural problems of the face and skeleton (see Symptoms).

Brain imaging studies, such as CT-scan (computer tomography) or MRI (magnetic resonance imaging) may reveal abnormal brain development (e.g. microcephaly).

Therapy:

There is no cure for FAS, because the CNS damage creates permanent disabilities.

There are no medications or treatment available that will reverse the symptoms of FAS and the other disorders that are associated with alcohol related birth defects (except some limited surgery).

There is no treatment to reverse or change the physical features or brain damage associated with FAS.

The treatment that is available for children with FAS is limited to providing hearing aids or eyeglasses, special school tutoring and other supportive services throughout life, helping the afflicted person to live life on his/her own.

In spite of widespread warnings about the devastating effects that alcohol can have on the unborn child, there are still many women who continue drinking during pregnancy.

Treatment of women, who continue drinking while pregnant, consists of counseling, with an emphasis on describing the dangers of continued alcohol use and its dire consequence – that the child may be born with FAS.

Prevention:

FAS is 100% preventable, if the woman does not drink alcohol during her pregnancy.

Sexually active women, who drink alcohol regularly and/or heavily should use birth control and control their drinking behaviors, or stop using alcohol before trying to conceive.

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