Can Fetal Alcohol Syndrome be distinguished by doctors, and is there a test that can be performed to help with the diagnosis?

Significant infant exposure to alcohol during pregnancy may be associated with a broad spectrum of developmental problems that can range from learning disabilities to severe mental retardation. In order to properly make the diagnosis of Fetal Alcohol Syndrome (FAS), there should be documented prenatal maternal alcohol consumption as well as some of the following signs and symptoms:

  1. Fetal Alcohol Syndrome: growth retardation, neurodevelopment abnormalities, and a characteristic pattern of facial anomalies.
  2. ARND (Alcohol-Related Neurodevelopmental Disorder): does not include the facial characteristics and often does not include the growth delay.

The diagnosis of both FAS and ARND is usually made over time because the developmental delay may be inapparent until the child is 2 or 3 years old. This delay in clinical manifestations is what makes the diagnosis of FAS and ARND a medical challenge. Many times denial of alcoholism makes it even more difficult to elicit a prenatal history from the mother. Alcohol-exposed children are often placed in foster care, and usually the foster parents do not have access to the medical history.

In cases of international adoption, this lack of history is even more compounded by the fact that many of these children are abandoned at birth with no birth history.   The prevalence of alcohol abuse (especially in Eastern Europe ) is quite high.

Facial features of FAS should include at least two of the following:

  1. Thin upper lip.
  2. Rounded, indistinct philtrum.
  3. Mid-face flattening (hypoplasia) manifested by a short and upturned nose.
  4. Flat nasal bridge.
  5. Small palpebral fissues.
  6. Epicanthal folds.
  7. Microcephaly (small head).
  8. Micrognathia (small chin).
  9. Abnormal palmar creases.

Growth delay may occur in the prenatal or postnatal period, or both. The typical pattern is as follows:

    Symmetrical intrauterine growth delay– which means that the child is small for gestational age in all growth parameters (weight, height, and head circumference)– is usually a result of alcohol exposure during the third trimester of pregnancy. These infants may track along their own growth curve throughout the years, and some of them may further lose weight for height. With good nutritional intake, many of these children catch up in the weight parameters by school age, but these children tend to have some catch-up growth in the head circumference, but they usually remain at below-average head size and of short stature through adulthood.

Neuro-developmental effects can include:

  1. Mental Retardation.  Severe mental retardation is rare, but mild mental retardation is common.
  2. Hyperactivity, poor short-term memory, and short attention span.
  3. Coordination disorders and poor judgment.
  4. Poor impulse control and delayed gross motor development.
  5. Sensory hypersensitivity.

Behavioral problems are usually the most problematic issues that families experience. As infants, these babies are hyper-irritable and have a poor wake-sleep pattern. Older children tend to become over-stimulated in social situations. Sometimes this hypersensitivity can be mistaken to be mood swings or aggression. Children with FAS have a high incidence of ADHD, or attention deficit disorder. Sometimes caregivers describe these children as “hard-headed” or “anti-social.”

As one can imagine, it is extremely difficult to make a diagnosis of FAS or ARBD in a patient during a live physical exam. This diagnosis is even more difficult to make in an international adoption consultation by reviewing the medical record, growth parameters, and video recording. Unfortunately, there is no one test that can make the diagnosis of FAS. Diagnosis is generally made by a good history and physical examination. These disorders are life-long disabilities, but with early identification and interventions, many of these children can be helped to function well in society.