Medscape

News Author: Laurie Barclay, MD
CME Author: Charles Vega, MD, FAAFP

Disclosures

Credits Available

Physicians - up to 0.25 AMA PRA Category 1 Credit(s)TM for physicians; Family Physicians - up to 0.25 AAFP Prescribed for physicians

Nov. 1, 2005 — The U.S. Centers for Disease Control and Prevention (CDC) has developed guidelines for the identification of fetal alcohol syndrome (FAS) and published them in the Oct. 28 issue of the Morbidity and Mortality Weekly Report.

"FAS results from maternal alcohol use during pregnancy and carries lifelong consequences," write Jacquelyn Bertrand, PhD, from the FAS Prevention Team, Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities in Atlanta, Georgia, and colleagues. "Early recognition of FAS can result in better outcomes for persons who receive a diagnosis."

Although FAS was first recognized in 1973, persons with this condition often remain undiagnosed. Under a mandate from Congress in 2002, the CDC updated and refined diagnostic and referral criteria for FAS, using recent scientific and clinical evidence. This article summarizes the diagnostic guidelines drafted by a CDC scientific working group of experts in FAS research, diagnosis, and treatment on the basis of a review of scientific evidence and clinical expertise. The scientific working group also considered the experiences of families affected by FAS regarding the physical and neuropsychological features of FAS, and they addressed the medical, educational, and social services needed by persons with FAS and their families.

The guidelines offer recommendations for when and how to refer a person suspected of having conditions caused by prenatal alcohol exposure, and they evaluate existing practices for creating support systems or environments that might reduce the long-term adverse consequences of FAS. By facilitating early identification of persons affected by FAS, the guidelines aim to provide these persons and their families with services allowing them to achieve healthy lives and to reach their full potential.

This article also includes recommendations to improve identification of and intervention for women at risk for alcohol-exposed pregnancies. For other related disorders, such as alcohol-related neurodevelopmental disorder, additional data are needed before diagnostic criteria can be developed.

"Prenatal exposure to alcohol during pregnancy damages the developing fetus and is a leading preventable cause of birth defects and developmental disabilities," the authors write. "Children exposed to alcohol during fetal development can suffer multiple negative effects, including physical and cognitive deficits. Although the number and severity of negative effects can range from subtle to serious, they are always lifelong."

Although referral and diagnosis for FAS are appropriate at all ages, most people with FAS are referred and diagnosed during childhood.

Criteria for diagnosis of FAS are the presence of all three dysmorphic facial features (smooth philtrum, thin vermillion border, and small palpebral fissures), prenatal or postnatal growth deficit in height or weight, and central nervous system (CNS) abnormality. On the basis of available history, the diagnosis should be classified as confirmed or unknown prenatal alcohol exposure. The CNS abnormality may be further categorized as structural (small head size or neuroimaging abnormalities), neurologic (including seizures), or functional (test performance substantially below that expected for age, schooling, or circumstances).

In cases of known prenatal alcohol exposure, referral for full FAS evaluation is warranted when alcohol abuse, defined as seven or more alcohol drinks per week, or three or more alcohol drinks on multiple occasions or both is confirmed.

If prenatal alcohol exposure is unknown, referral for full FAS evaluation is warranted when a parent or caregiver reports that a child has or might have FAS; all three dysmorphic facial features are present; or one or more facial features are present along with growth deficits and/or one or more CNS abnormalities.

Features of the social and family history associated with prenatal exposures to alcohol that might indicate a need for referral include premature maternal death from disease or trauma related to alcohol use, living with an alcoholic parent, current or previous abuse or neglect, current or previous involvement with child protective services agencies, a history of transient caregiving situations, or having been in foster or adoptive care.

The FAS diagnosis and the diagnostic process, particularly the neuropsychological evaluation, should be regarded as part of a continuum of care that identifies and facilitates appropriate healthcare, education, and community services.

General services for individuals with FAS and their families should include strategies that stabilize home placement, educate parents or caregiver to improve their interaction with the child, advocate for access to services, and educate service professionals involved with affected persons and their families about FAS and its potential complications.

Specific intervention services tailored to individual needs and deficits might involve improvement of communication and social skills, emotional development, verbal and comprehension ability, language usage, and referral for medication assessments in some cases. Children in adoptive or foster placements require special attention in the diagnostic and referral process to ensure that their needs are met.

The guidelines also offer recommendations to help prevent FAS. Federal, state, and local agencies; clinicians and investigators; educational and social service professionals; and families should collaborate to educate women of childbearing age and communities nationwide about the risks of alcohol consumption during pregnancy.

All women of childbearing potential should undergo universal screening by healthcare providers for alcohol use. Women drinking at risk levels and not using effective contraception may benefit from brief interventions designed to reduce the risk for alcohol consumption during pregnancy.

No safe threshold of alcohol use during pregnancy has been established. Therefore, women who are pregnant, planning to conceive, or at risk for pregnancy should be counseled not to drink alcohol. Women who are not pregnant, not planning a pregnancy, or not at risk for unintended pregnancy should be advised to drink no more than seven drinks per week and no more than three drinks on any one occasion.

MMWR Morbid Mortal Wkly Rep. 2005;54(RR-11):1-15

Learning Objectives for This Educational Activity

• Describe the epidemiology of FAS.
• Specify diagnostic criteria for FAS.

Clinical Context

The basic features of FAS were first described in 1973, and the U.S. Surgeon General first issued a warning regarding alcohol use in pregnancy in 1981. Nonetheless, FAS continues to be a significant problem, with an estimated number of 0.2 to 1.5 cases per 1,000 live births.

The prevalence of FAS is easy to understand in light of the facts that half of all U.S. women of childbearing age report alcohol consumption during the previous month and, at the same time, half of pregnancies are unplanned. The authors of the current report also cite data that 12% to 13% of women between the ages of 18 and 44 years are sexually active, do not use contraception effectively, and drink alcohol frequently or binge drink.

While preconception intervention is the only means to prevent FAS, the current article focuses on the diagnosis and treatment of individuals with this syndrome.

Study Highlights

• The current guidelines were developed by a scientific working group formed by the CDC. They reviewed published scientific literature as well as personal experiences with FAS to reach their conclusions.
• While multiple forms of nomenclature exist for the effects on alcohol in pregnancy, the authors prefer the term fetal alcohol spectrum disorders to describe pathology related to alcohol use during the prenatal period. FAS is part of the fetal alcohol spectrum disorder group but must be diagnosed using specific criteria.
• All patients with FAS must have characteristic facial features, including a smooth philtrum, thin vermillion border, and small palpebral fissures. These features may be more difficult to detect after puberty.
• Patients with FAS must have a documented neurologic abnormality. This may entail abnormal neuroimaging, a head circumference less than the 10th percentile for age, motor or sensory problems, seizures, or cognitive delay with testing below the third percentile for age. FAS might also be diagnosed in children with a history of functional testing less than the 16th percentile for age.
• Finally, patients with FAS should have growth delay for weight, height, or both, which places them under the 10th percentile of these values for age. Physicians should make sure that any growth deficit is not due to acute factors, which would argue against a diagnosis of FAS.
• While only FAS comprises the findings of typical facial features, neurologic findings, and growth delay, other disorders, including Williams syndrome, Dubowitz syndrome, and fetal dilantin syndrome may mimic certain aspects of FAS.
• In many cases of suspected FAS, the history of alcohol use during the prenatal period is unclear. Historical risk factors that suggest FAS include premature maternal death related to alcohol use, living with an alcoholic parent, current or previous abuse or neglect, current or previous involvement with child protective services agencies, a history of transient caregiving situations, or a history of foster or adoptive placements.
• There is little research into formal rehabilitative programs for patients with FAS. The authors recommend that early diagnosis and a stable, nurturing environment are keys to treatment success of FAS. Parents may consider classes to learn extra skills in caring for children with FAS.
• To prevent FAS, the authors recommend no more than 7 drinks per week in women of childbearing age. They also recommend against having more than 3 drinks on any one occasion.

Pearls for Practice

• The prevalence of FAS is between 0.2 to 1.5 cases per 1,000 live births, and many women put their offspring at risk for FAS through alcohol use.
• FAS may be diagnosed in patients with characteristic facial features, neurologic impairment, and growth delay.

1. Which of the following statements is least accurate regarding the epidemiology of FAS?  (Required for credit) The prevalence is estimated to be 0.2 to 1.5 cases per 1,000 live births On average, 25% of U.S. women of childbearing age have imbibed alcohol within the previous month Approximately half of pregnancies are unplanned Approximately 12% to 13% of women could be considered to be at significant risk for delivering a child with FAS 2. According to the current guidelines, which of the following features is not required to make the diagnosis of FAS?  (Required for credit) Growth delay Hepatomegaly Characteristic facial features Neurologic impairment

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