FASD - How Do Doctors Investigate Your FAS Child?

There are four accepted characteristics that represent the full spectrum of FASD:

1. Facial features
2. Signs of growth delay
3. Brain dysfunction, and
4. Maternal alcohol exposure

The doctor will gather the needed data concerning all four of these characteristics in a few different ways.

First, he will need the caregiver's input. The caregiver is the "advocate" for the child, presenting him or her for the assessment. This person is an important source of information. First and foremost, the possibility of maternal alcohol exposure must be addressed. Had the mother ever been diagnosed with alcoholism, and if the mother had a history of alcohol use, what was the rate and amount used before and during the child's birth, and in which trimester(s)? Is the information reliable? How thorough was the mother's prenatal care? Was the pregnancy complicated? Does the mother have any genetic predisposition to disabilities? Finally, is there any possibility of postnatal causes of the child's difficulties, including birth injuries, inadequate nutrition, or abuse or neglect?

Other areas to discuss with the caregiver include what the caregiver has observed in the form of the child's memory, learning and social abilities. The caregiver will also be able to tell the doctor if the child has had an unusually high or low reactivity to sound, touch, or light. To help with the assessment, the care-giver should bring along the child's growth records, photos (especially from early age), and all records from previous doctors, psychologists, occupational therapists, speech therapists, teachers, geneticists, or patient advocates.

The child's growth records are important in order to assess the cause of growth delays. When growth delays are due to a teratogenic cause such as alcohol, there is a constant, normal growth curve. No "catch-up" phases will be evident. "Catch-up" phases will occur in situations where postnatal, not prenatal, factors were the cause, such as chronic illness or poor nutrition. These tend to show intermittent surges on the growth chart. The doctor will also look over previous records for neurological information, including histories of seizures and gross motor delay or fine motor delay.

Facial changes can be observed if alcohol was used during the 1st trimester of pregnancy. These changes can include a difference in the width of eye, distance between the eyes, thin upper lip, palpepral fissure length, and flatness of the philtrum groove above the upper lip. This flatness can vary from absent to severe.

But not all FAS children have noticeable facial differences. Other indicators might be behavioral or academic. Soft signs of brain dysfunction can include poor memory, learning disabilities, language delay and poor social interaction. Each individual affected by FASD will have unique characteristics along a spectrum or possibilities. But because FAS is not well defined, diagnosis of brain dysfunction can be complicated. In the first place, it is very difficult to predict how much potential a small child will have. However, depending on the patient's age, the doctor will perform psychometric testing, including intellectual/language, achievement/developmental, and adaptation testing. He will also examine the individual for other psychiatric disorders, such as Attention Deficit, Hyperactive Disorder, or Oppositional Defiant Disorder, (ODD).

Such tests will assist in obtaining an accurate diagnosis. The average IQ in FASD is between 75 and 85, (mild retardation) with the full range between 20 and 140+. ("Mental Handicap" is an IQ less than 70. The average IQ is around 100 plus or minus 15.) However, almost all individuals with FASD have an AQ (Adaptive Quotient) of less than 70. (The average AQ of a non-FAS person is 100, plus or minus 15.) This Adaptive Quotient measures ones ability to function day to day without support in the areas of communication, socialization, daily living, time management, employment, etc. A person with a low AQ rating might have difficulty with impulsivity, inability to plan or follow directions, and an inability to say no. They often get in trouble with the law. This low AQ can be considered an Adaptive Mental Handicap (1) and can result in significant problems managing daily living skills. Thus, a doctor or caregiver can suspect FAS when someone is passing tests but failing life.

Many doctors will also examine the child for structural evidence of FAS. This might include measuring the head circumference or taking an MRI or Catscan. Hard signs of brain dysfunction include seizures, microcephaly, or hydrocephaly. Some children might also have obvious alcohol produced lesions in the brain, evidence which will lend support to the FAS diagnosis. But even without lesions, there could still be cell damage; meaning, damage to the brain cells that gets more noticeable as the child gets older. And how many areas of damage must be present for the diagnosis to be FAS? How severe must these deficits be?

There are a few other things that, if present, do contribute to the diagnosis. FAS sometimes causes the brain to be up to 13% smaller than average. The frontal lobe is frequently smaller than expected and the subcortal area can be reduced by over 20%. The cerebellum can be up to 17% smaller with specific areas affected. Additional areas of the brain that could be affected include:

• - The basal ganglia (caudate nucleus, globus palladus, substantia nigra, subthalamic nucleus, and red nucleus) are groups of neurons embedded within each hemisphere of the cerebrum. They manage complex motor control, information processing and unconscious gross intentional movements. When the caudate nucleus has been affected by alcohol, impulse control is smaller, as well as the ability for planning and memory. The impact of damage to this area of the brain has physical, mental, and social aspects.
• - When the parietal lobes are affected, alteration of pain sensations occurs. There might also be problems with spatial orientation (difficulty with math and puzzles) and right and left confusion, resulting in people being more accident-prone.
• - The two frontal lobes, the right and the left hemispheres of the brain, communicate with each other through the corpus callosum, The corpus callosum, (nerve fibers in the middle of the brain) transfer messages from one side to the other. When exposed to alcohol, it can become thin and poorly defined. This can result in not being able to discern ones emotions correctly.

Once all the information has been gathered, the clinician ranks the data from one to four on solid evidence. There are 256 possible diagnosis's that could stem from symptoms similar to FAS and 22 diagnostic codes. The doctor uses the four characteristics of FASD to guide his diagnosis. He ranks each of the four characteristics, (facial features, signs of growth delay, brain dysfunction, and maternal alcohol exposure) on a scale of 1 to 4 in attempt to quantify the magnitude of the problems. Number 1 indicates no risk at all; no indication of that particular FASD characteristic. Number 2 indicates that the risk is unknown. Number 3 indicates that some risk is present, but low amounts, and number 4 indicates high risk.

Thus the individual is rated from 1111 (none of the four criteria - NO FAS) to 4444 (all of the four criteria, highest risk - full blown FAS) and various levels in between.

Once it is decided that the child is suffering the effects fetal alcohol exposure, the doctor has a set of spectrum FAS disorders to further explore. Fetal Alcohol Effects (FAE) is a term that is being fazed out, but is still used to refer to the children that have experienced alcohol exposure but do not exhibit the classic facial features. However, it has never meant that the abnormalities of the other three characteristics of FAS are less severe. Another diagnosis within FASD is Alcohol Related Birth Defects (ARBD). This is a diagnosis that includes heart defects, (ASD, USD, and congenital heart defects). It can also include skeletal deformities, i.e. poorly developed nails, shortened fingers or toes, and spinal deformities; Kidney problems - abnormal shape or size; and eye problems - including crossed eyes (strabismus), small eyes, or a need for glasses. Alcohol Related Neurobehavioral Disorder (ARND) consists of a complex pattern of behavioral and cognitive abnormalities unexplained by other diagnosis's. All other possibilities need to be excluded. The individual will present with problematic social interactions, language deficits, concrete thought problems, learning difficulties, memory problems, and poor impulse control.