Diagnosing Fetal Alcohol Spectrum Disorders

Diagnosing Fetal Alcohol Spectrum Disorders is more challenging than I ever thought imaginable. Crazy me but I really thought every pediatrician would recognize the signs of FASD and be able to make an accurate diagnosis. Boy was I wrong about that one!

I had many doctors tell me they were "pretty sure" that my son had FASD but none of them would make the "official diagnosis." Instead they referred us to a Fetal Alcohol Syndrome Clinic. Basically this was a multi-disciplinary team made up of a variety of professionals including a physician, therapist, social worker, physical and occupational therapists and speech pathologists. Of course there is only one of these teams in our state so the waiting list was incredibly long.

The benefits of the multi-disciplinary team approach to diagnosis are that each of the team members have their own specialties and can focus on how FASD may look in their area. This is great because what one person might miss the others may catch. I liked this because we all know that every child with FASD presents differently. What may be a symptom for one child may not show up at all for another. So this approach really helps in that regard.

The downside is that due to the fact that these teams are rare and only screen cases maybe one or two times a month diagnosis can take a long time. We were on the wait list for 15 months!

Another barrier is that the CDC has only developed guidelines for diagnosis FAS (Fetal Alcohol Syndrome). They have yet to develop guidelines for diagnosing FASD. To be diagnosed with FAS a person must have the facial features. This is where a lot of individuals are lost. They may have dozens of other symptoms of FASD but if they don't have those facial features they aren't diagnosed.

CDC Criteria for FAS diagnosis 

1. 
   Abnormal facial features
   A person with FAS has three distinct facial features:
   • Smooth ridge between the nose and upper lip (smooth philtrum)
   • Thin upper lip
   • Short distance between the inner and outer corners of the eyes, giving the eyes a wide-spaced appearance.
     
2. Growth problems
   Children with FAS have height, weight, or both that are lower than normal (at or below the 10th percentile). These growth issues might occur even before birth. For some children with FAS, growth problems resolve themselves early in life.
   
3. Central nervous system problems
   The central nervous system is made up of the brain and spinal cord. It controls all the workings of the body. When something goes wrong with a part of the nervous system, a person can have trouble moving, speaking, or learning. He or she can also have problems with memory, senses, or social skills. There are three categories of central nervous system problems:
   
   
   1. Structural
      FAS can cause differences in the structure of the brain. Signs of structural differences are:
      • Smaller-than-normal head size for the person’s overall height and weight (at or below the 10th percentile).
      • Significant changes in the structure of the brain as seen on brain scans such as MRIs or CT scans.
        
   2. Neurologic
      There are problems with the nervous system that cannot be linked to another cause.  Examples include poor coordination, poor muscle control, and problems with sucking as a baby.
      
   3. Functional
      The person’s ability to function is well below what’s expected for his or her age, schooling, or circumstances. To be diagnosed with FAS, a person must have:
      • Cognitive deficits (e.g., low IQ), or significant developmental delay in children who are too young for an IQ assessment.
        
        Or
        
      • Problems in at least three of the following areas:
        
        
        • Cognitive deficits (e.g., low IQ) or developmental delays
          Examples include specific learning disabilities (especially math), poor grades in school, performance differences between verbal and nonverbal skills, and slowed movements or reactions.
          
        • Executive functioning deficits
          These deficits involve the thinking processes that help a person manage life tasks. Such deficits include poor organization and planning, lack of inhibition, difficulty grasping cause and effect, difficulty following multistep directions, difficulty doing things in a new way or thinking of things in a new way, poor judgment, and inability to apply knowledge to new situations.
          
        • Motor functioning delays
          These delays affect how a person controls his or her muscles. Examples include delay in walking (gross motor skills), difficulty writing or drawing (fine motor skills), clumsiness, balance problems, tremors, difficulty coordinating hands and fingers (dexterity), and poor sucking in babies.
          
        • Attention problems or hyperactivity
          A child with these problems might be described as “busy,” overly active, inattentive, easily distracted, or having difficulty calming down, completing tasks, or moving from one activity to the next. Parents might report that their child’s attention changes from day to day (e.g., “on” and “off” days).
          
        • Problems with social skills
          A child with social skills problems might lack a fear of strangers, be easily taken advantage of, prefer younger friends, be immature, show inappropriate sexual behaviors, and have trouble understanding how others feel.
          
        • Other problems
          Other problems can include sensitivity to taste or touch, difficulty reading facial expression, and difficulty responding appropriately to common parenting practices (e.g., not understanding cause-and-effect discipline)
          
4. Mother’s Alcohol Use during Pregnancy
   Confirmed alcohol use during pregnancy can strengthen the case for FAS diagnosis. Confirmed absence of alcohol exposure would rule out the FAS diagnosis. It’s helpful to know whether or not the person’s mother drank alcohol during pregnancy. But confirmed alcohol use during pregnancy is not needed if the child meets the other criteria.

Summary: Criteria for FAS Diagnosis
A diagnosis of FAS requires the presence of all three of the following findings:

1. All three facial features
   
2. Growth deficits
   
3. Central nervous system problems. A person could meet the central nervous system criteria for FAS diagnosis if there is a problem with the brain structure, even if there are no signs of functional problems.