Aase syndrome

Fetal alcohol syndrome (FAS) is one of the leading causes of preventable birth defects and developmental disabilities in the United States (1). Since 1979, surveillance systems for estimating and tracking FAS have categorized cases using International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM), code 760.71 (2). This code comprises noxious influences affecting the fetus or newborn through placenta or breast milk, specifically alcohol, and includes FAS. Because the code is not specific for FAS and may reflect maternal alcohol consumption during pregnancy or other adverse effects of alcohol on the fetus, CDC assessed the usefulness of this code in ascertaining FAS cases by reviewing medical records for 1981--1993 from the Aberdeen Area(*) Indian Health Service (IHS) and IHS contract facilities in eight of the 19 tribal or American Indian communities in the area. This report summarizes the findings of the analysis.

During June--July 1993, IHS medical records with the diagnostic code 760.71 were abstracted. Data were collected from records of persons who were inpatients during 1981--1991 and from the records of outpatients during August 1, 1989--July 12, 1993. A case of FAS was defined as documentation of the following five criteria in a person's medical records: 1) prenatal alcohol exposure or maternal history of alcohol consumption, 2) FAS diagnosed or noted as a suspected diagnosis by a physician, 3) one or more facial features characteristic of FAS, 4) growth deficiency (i.e., prenatal or postnatal height or weight [less than or equl to]10th percentile for age), and 5) central nervous system (CNS) impairment (3). Maternal medical records were not reviewed in this study. During 1981--1992, a total of 19,000 infants were born in the Aberdeen area.

During 1981--1992, medical records of 251 persons had the diagnostic code 760.71; 60 (24%) persons met all five criteria for FAS (Table 1). Of the 60 persons with FAS, the mean age was 8 years (range: birth--31 years); 58% were male. Of the 60 case-patients, 52 (87%) were born during 1981--1992; based on the 19,000 deliveries during 1981--1992, the rate of FAS was 2.7 per 1000 live births during this period.

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The most common facial features documented in the medical records of the 60 case-patients were long and flat philtrum (60%); low nasal bridge (52%), short palpebral fissures (42%); thin upper lip (30%); and midface hypoplasia (28%). The most common CNS impairments were microcephaly (45%), developmental delay (45%), speech or language delay (40%), delayed gross motor development (32%), hyperactivity (30%), seizures (25%), delayed fine motor development (23%), and attention deficit disorder (20%).

Of the 57 cases for which data were available, low birthweight (<2500 g [<5 lbs, 8 oz]) was documented in 21 (37%). Of the 47 cases for which data were available, 16 (34%) were small for gestational age (i.e., birthweight [less than or equl to]10th percentile for gestational age). For 41 (68%) of the 60 cases, postnatal growth deficiency had been documented in the medical records. Based on the review of records, dysmorphologists had independently examined 18 (30%) of the 60 case-patients and diagnosed FAS in 14 of these persons.

Of the 191 persons whose medical records included the diagnostic code 760.71 but who did not meet all five criteria of the study case definition, one or more of the clinical signs of FAS were present in 168 (88%). A dysmorphologist had diagnosed FAS in 15 of these persons. For 23 persons whose medical records included the diagnostic code 760.71, none of the typical physical findings associated with in utero exposure to alcohol were documented in their records.

Editorial Note: The rate of FAS for American Indians is higher than for other racial/ethnic groups in the United States (4). The estimated rate of FAS for American Indians in the Aberdeen area during 1981--1992 (2.7 per 1000 live births) was similar to the rate reported for Alaskan Natives during 1978--1991 (2.1) (3). Population-based screening studies during 1980--1982 documented rates of FAS for American Indians as 1.4 per 1000 live births for Navajo, 2.0 for Pueblo, and 9.8 for American Indians of the Southwest plains (5). The rate of FAS in the IHS study was substantially lower than that estimated by a prospective follow-up study of American Indian children in whom FAS was diagnosed by dysmorphologists (8.5) (6). The variability in rates in these studies may reflect the use of different diagnostic criteria or case-finding methodologies or real differences in rates for the population subgroups.

The findings in this report indicate that only a small proportion of medical records in the IHS study coded 760.71 represented cases that met the rigorous case definition for FAS. However, the code can be useful in assessing the rate of adverse effects of maternal alcohol consumption during pregnancy. In this study, 76% of the persons with medical records coded 760.71 did not meet the diagnostic criteria for FAS; however, most (79%) had substantial developmental and behavioral problems that could be related to maternal alcohol consumption during pregnancy. The findings that high proportions of these persons had growth deficiencies, CNS impairment, or documented maternal alcohol consumption during pregnancy suggest that the ICD-9-CM code 760.71 may be a marker for problems in children associated with in utero exposure to alcohol. The finding that maternal alcohol consumption was not documented in the medical records of 30% of patients may reflect failure to record this information or failure to ask the mother about alcohol consumption during pregnancy.

Because surveillance systems using ICD-9-CM code 760.71 lack specificity for monitoring FAS, calculation of accurate population estimates of FAS is complex and difficult. However, use of these surveillance systems should be continued because of the importance of measuring the overall adverse effects of in utero exposure to alcohol. Approaches to enhance surveillance for adverse effects of maternal alcohol consumption on the fetus should be expanded to include multiple data sources, such as hospital discharge data from the newborn period (similar to data used by CDC's Birth Defects Monitoring Program) and insurance claims data for clinic visits. Use of Medicaid and other insurance claims may be an inexpensive method of monitoring FAS and other outcomes related to maternal alcohol consumption during pregnancy in the general population and in patients with documented in utero exposure to alcohol. Accurate surveillance data will help target screening and prevention efforts to those women whose children are at greatest risk for adverse sequelae from in utero alcohol exposure.

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References

(1.)Streissguth AP. A long-term perspective of FAS. Alcohol Health Res World 1994; 18:74--81.

(2.)Cordero JF, Floyd RL, Martin ML, Davis M, Hymbaugh K. Tracking the prevalence of FAS. Alcohol Health Res World 1994; 18:82--5.

(3.)CDC. Linking multiple data sources in fetal alcohol syndrome surveillance--Alaska. MMWR 1994; 42:312--4.

(4.)Chavez GF, Cordero JF, Becerra JE. Leading major congenital malformations among minority groups in the United States, 1981--1986. In: CDC surveillance summaries (July). MMWR 1988; 37(no. SS-3): 17--24.

(5.)May AM, Hymbaugh DJ, Aase JM, Samet JM. Epidemiology of fetal alcohol syndrome among American Indians of the Southwest. Soc Biol 1983; 30:374--87.

(6.)Duimstra C, Johnson D, Kutsch C, et al. Alcohol syndrome surveillance pilot project in American Indian communities in the northern plains. Public Health Rep 1993; 108:225--9.

(*)Iowa, Nebraska, North Dakota, and South Dakota (1990 total American Indian population: 84,280).

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