12. Fetal alcohol syndrome disorder: Physical signs, chemical and molecular biomarkers, and long-term consequences

Alcohol is a teratogen, i.e. a substance that disrupts the normal development of a fetus. The changes that are induced to fetuses by their mothers drinking alcohol are potentially disastrous:

  1. Still birth
  2. Preeclampsia (from Dictionary.com — a form of toxemia of pregnancy, characterized by hypertension, fluid retention, and albuminuria, sometimes progressing to eclampsia)
  3. Spontaneous abortion
  4. Maternal fatality
  5. Sudden infant death syndrome
  6. Autism
  7. Fetal alcohol spectrum disorders (FASD)

From Wikipedia.com: Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person who is exposed to alcohol as a result of their mother drinking during pregnancy.[1] Symptoms can include an abnormal appearance, short height, low body weight, small head size, poor coordination, behavioral problems, learning difficulties, and problems with hearing and sight.[1][2] Those affected are more likely to have trouble with school, the legal system, alcohol, other drugs, and other areas of high risk.[9] The several forms of the condition (in order of most severe to least severe) are: fetal alcohol syndrome (FAS),[1] partial fetal alcohol syndrome (pFAS), alcohol-related birth defects (ARBD),[1][10] static encephalopathy,[11] alcohol-related neurodevelopmental disorder (ARND) and neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE).[12] As of 2016, the Swedish Agency for Health Technology Assessment and Assessment of Social Services accepted only FAS as a diagnosis, seeing the evidence as inconclusive with respect to other types.[13]

First, a video from the Substance Abuse and Mental Health Services Administration (SAMHSA). (It’s almost an hour long, but it’s worth it.) — Fetal Alcohol Spectrum Disorder (FASD) – YouTube.

Physical signs

As an infant grows, the facial characteristics of fetal alcohol syndrome become unmistakable. The first image is a photograph of two young children, the one on the left, while the one on the right is affected by FAS. The second image is a drawing of the particular facial abnormalities associated with FAS:

Note the differences in the following:

Girl on leftGirl on right
Normal-sized headSmall head
Lack of epicanthal folks around eyesEpicanthal folds present
Relatively high nasal bridgeLow nasal bridge
Normal-sized eye openingsSmall eye openings
Contoured midfaceflat midface
Fully developed philtrum between nose and lipsSmooth philtrum
Fully developed upper lip (vermilion)Thin upper lip
Fully developed jawUnderdeveloped jaw

As the child matures, these unusual facial features may normalize, so a physician may have to refer to pictures taken when the child was very young.

The gross anatomy of a normal child’s brain, compared to that of a child affected by FAS, are clearly different:

  1. The “hills” and “valleys”, i.e., sulci and gyri of the normal brain are well-developed. Here is where the cell bodies of neurons reside. In the FAS-affected brain, the sulci and gyri are not well defined.
  2. In the normal brain, there is a clear separation between the left and right hemispheres, but the connecting structure, the corpus callosum, is not visible. In the FAS-affected brain, the separation is not clearly defined;
  3. The normal child’s brain is far larger than that of the FAS-affected child.

Chemical and molecular biomarkers

Various byproducts of alcohol ingestion can be detected in maternal blood, breath, urine, and hair. Some of these can also be detected in meconium, the first fecal excretion of a newborn child that usually consists of bile, mucus, and epithelial cells, and they can be used to indicate how recent alcohol was ingested and whether the woman has been drinking for a long time during her pregnancy:

Present in

BiomarkerMaternal bloodMaternal breathMaternal urineMaternal hairMeconiumTiming of use
Alcohol x x xVery recent (within hours)
Acetaldehyde x xVery recent (within hours)
Ethyl
glucoronide
(EtG)
x x x5 days to 3 months
Fatty acid ethyl esthers (FAEEs) x x x3 months
Phosphati-
dyl
ethanol-amine
(PEth)
x x5 days

Neurodevelopmental and behavioral characteristics

Again, from the Guideline for the Diagnosis of Fetal Alcohol Syndrome (Alberta Partnership on Fetal Alcohol Syndrome):

  1. In fancy and early childhood (0-5 years) they include delayed developmental milestones, poor sleep/wake cycle, attentional deficits, impulsivity, and difficulty adapting to change;
  2. From ages 6 to 11, the following may also appear: significant learning difficulties, cognitive delay, and inability to appreciate cause and effect, and poor understanding of social expectations;
  3. In adolescence and adulthood, these difficulties, lead to problems with independent living, competitive employment, social integration, and involvement with the legal system.

In order to address these issues, An early diagnosis is crucial to provide the best care that the affected child can receive. From Guideline for the Diagnosis of Fetal Alcohol Syndrome (Alberta Partnership on Fetal Alcohol Syndrome), ” a multi-disciplinary team for care and management could include, at minimum, two or three professionals, depending on need and availability within the area; and could be comprised of the following professionals: physicians, nurses, psychologists, speech pathologists, occupational therapists, educators, and social workers.”

Long-term consequences

The stakes are, therefore, high. Without proper treatment and care from a team of professionals and from a loving caregiver, the following disabilities may arise:

  1. Mental health problems
  2. Disruptive school experience
  3. Trouble with the law
  4. Inappropriate sexual behaviour (Boys get locked up, girls get knocked up.)
  5. Drug/alcohol problems

Chabenne, A.; Moon, C.; Ojo, C.; Khogali, A.; Nepal, B.; Sharma, S. (2014). Biomarkers in fetal alcohol syndrome. Biomarkers and Genomic Medicine (2014) 6: 12-22. http:dxdoi.org/10.1016/j.bgm.2014.01.002

Alberta Partnership on Fetal Alcohol Syndrome. (2003). Diagnosis of Fetal Alcohol Syndrome (FAS). The Canadian Child and Adolescent Psychiatry Review, August 2002 (12)3.