NIAAA Advances Research on Fetal Alcohol Spectrum Disorders

In 1967, when French pediatrician Paul Lemoine first recognized that children with alcoholic mothers shared a pattern of abnormal facial features and behavior problems, he did not get much attention. Back then, conventional wisdom held there was nothing wrong with drinking during pregnancy. Most doctors never even raised the issue.

But today we know differently.

That's in part because, in 1973, pediatrician David Smith and researcher Kenneth Lyons Jones uncovered the same relationship that Dr. Lemoine did. Dr. Smith hoped to bring more attention to the problematic pattern by giving it a name: fetal alcohol syndrome (FAS).

The name worked. Doctors, researchers, and the public in general began to pay more attention to FAS. Today, we have a much better understanding of the wide range of brain damage and developmental, cognitive, and behavioral problems caused by fetal alcohol exposure.

Research on this range of problems, which we now call fetal alcohol spectrum disorders (FASD), is a top priority for NIAAA. With our support, FASD research has already come a long way.

"Initially, some people thought that this problem only affected neglected children of poor alcoholic women who grew up in unfavorable postnatal environments—and that's why the kids did not look or behave like normal children. But NIAAA-funded critical animal research studies that showed that alcohol is able to disturb the growth and development of an embryo or fetus," explained Sally Anderson, Ph.D., NIAAA.

Today, NIAAA supports researchers around the world who are making tremendous strides. In particular, current research is advancing more accurate diagnoses of FASD, distinguishing FASD from other disorders, and determining the prevalence of FASD with greater precision.

Accurate Diagnosis

Smith and Jones' original description of FAS has not changed very much. People with the following three features receive a diagnosis of full FAS:

• Characteristic pattern of facial abnormalities;
  
  
• Growth deficits, either prenatally or postnatally; and
  
  
• Central nervous system dysfunction.

But fetal alcohol exposure does not always result in all three characteristics, meaning that some people would not receive an FAS diagnosis although they were adversely affected.

"Initially, clinicians were only able to identify individuals with FAS," explained Kenneth Warren, Ph.D., acting director of NIAAA, and a leading expert on FAS and FASD.

"If you didn't have the distinctive facial features, you weren't diagnosed with FAS. If you didn't have a growth deficit, you weren't diagnosed with FAS. Fortunately, our ability to understand and describe other areas has been enhanced and continues to improve," Dr. Warren said.

We now include a broader range of effects that result from prenatal alcohol exposure under the umbrella term of FASD. In addition to full FAS, FASD includes:

• Partial FAS, which describes people with some signs and symptoms of full FAS, but not all three.
  
  
• Alcohol-related birth defects, which include prenatal alcohol-induced physical abnormalities which affect vision, hearing, or the heart, kidneys, or skeletal structure.
  
  
• Alcohol-related neurodevelopmental disorder (ARND), which describes fetal alcohol-induced impairments to the growth and development of the brain or central nervous system, and/or the cognitive and behavioral problems of FAS without facial or growth abnormalities.

Distinguishing FASD From Other Disorders

Treating FASD effectively depends on an accurate diagnosis. Unfortunately, FASD are chronically under-diagnosed. The problem is that "distinguishing FASD from other developmental disorders is tricky, and evolving diagnostic standards are not yet accepted by everyone," explains Dr. Anderson.

Often, people with FASD are mistakenly diagnosed with conditions like attention deficit hyperactivity disorder (ADHD), which also causes learning and behavior problems.

Current research is making the differences between FASD and other disorders like ADHD much clearer. For example, we now understand the difference in a behavior called perseveration.

"Perseveration is an impaired ability to shift from one task to another. Many people with ADHD often switch from task to task constantly, but if you ask someone within the FASD spectrum to switch from one activity to another very quickly, they will likely be very resistant," explains Dr. Warren.

A recent review of research studies comparing children with FASD to children with ADHD concluded that children with ADHD have a harder time focusing and sustaining attention while children with FASD have a harder time shifting attention from one task to another and solving problems with flexibility. In addition, children with ADHD have trouble retrieving information they learn verbally. By contrast, children with FASD have trouble encoding and remembering verbally learned information. Other research suggests that stimulant medication, which often reduces inattention symptoms in children with ADHD, is not effective for children with FASD.

Prevalence

We know that FASD are the most common, preventable developmental disorders in the United States. Now, NIAAA is funding a new research study that will improve our knowledge of just how many people are affected by FASD.

NIAAA is developing a network and infrastructure called Collaboration on FASD Prevalence (CoFASP) to test kindergarten and first-grade students for signs of FASD. Testing will begin with students in San Diego, California; Great Falls, Montana; Sioux Falls, North Dakota; and several communities in North Carolina.

"The new study will help determine the prevalence of FAS, partial FAS, and ARND, and also help the children in those communities get the special education services they need to thrive," said Dr. Warren.

Other Areas of Research

Clearly, research has come a long way since Dr. Lemoine's days. Yet Dr. Warren acknowledges there is still a lot we do not yet fully understand. The breadth of research continues to grow.

Other areas of significant NIAAA-funded research on FASD include demonstrating structural brain damage caused by prenatal alcohol exposure using advanced imaging, mitigating the extent of alcohol-related brain damage through nutrition, and understanding the effect of prenatal alcohol exposure on gene expression.

"Of course, our hope is that there will be a day when people no longer have FASD. But until that time, we will continue to try to understand these disorders as best we can. The more we know, the more we can improve the lives of individuals who struggle with these difficulties every day," said Dr. Warren.