A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 institute of medicine criteria

Abstract

Background: The adverse effects of alcohol on the developing human represent a spectrum of structural anomalies and behavioral and neurocognitive disabilities, most accurately termed fetal alcohol spectrum disorders (FASD). The first descriptions in the modern medical literature of a distinctly recognizable pattern of malformations associated with maternal alcohol abuse were reported in 1968 and 1973. Since that time, substantial progress has been made in developing specific criteria for defining and diagnosing this condition. Two sets of diagnostic criteria are now used most widely for evaluation of children with potential diagnoses in the FASD continuum, ie, the 1996 Institute of Medicine (IOM) criteria and the Washington criteria. Although both approaches have improved the clinical delineation of FASD, both suffer from significant drawbacks in their practical application in pediatric practice.

Objective: The purpose of this report is to present specific clarifications of the 1996 IOM criteria for the diagnosis of FASD, to facilitate their practical application in clinical pediatric practice.

Methods: A large cohort of children who were prenatally exposed to alcohol were identified, through active case-ascertainment methods, in 6 Native American communities in the United States and 1 community in the Western Cape Province of South Africa. The children and their families underwent standardized multidisciplinary evaluations, including a dysmorphology examination, developmental and neuropsychologic testing, and a structured maternal interview, which gathered data about prenatal drinking practices and other demographic and family information. Data for these subjects were analyzed, and revisions and clarifications of the existing IOM FASD diagnostic categories were formulated on the basis of the results.

Results: The revised IOM method defined accurately and completely the spectrum of disabilities among the children in our study. On the basis of this experience, we propose specific diagnostic criteria for fetal alcohol syndrome and partial fetal alcohol syndrome. We also define alcohol-related birth defects and alcohol-related neurodevelopmental disorder from a practical standpoint.

Conclusions: The 1996 IOM criteria remain the most appropriate diagnostic approach for children prenatally exposed to alcohol. The proposed revisions presented here make these criteria applicable in clinical pediatric practice.

Fig 1

Left, Child with FAS. Short palpebral fissures, a smooth philtrum, and a thin upper lip are evident. Center, “Hockey stick” configuration of the upper palmar crease, a minor anomaly common among children with FAS. Right, “Railroad track” ear.

Fig 2

Lip-philtrum guide. The smoothness of the philtrum and the thinness of the upper lip are assessed independently. Scores of 4 or 5 are consistent with FASD. Reprinted with permission from ref .

Fig 3

Measurement of palpebral fissures. Palpebral fissures are measured in millimeters, with a rigid ruler, with the examiner seated directly in front of the subject. The ruler is canted slightly, to follow the curve of the face. The measurement is taken from the inner canthus to the outer canthus, and results are compared with published normative values.

Fig 4

Patients with genetic disorders who display some of the craniofacial features of FAS. Left, Williams syndrome. Center, De Lange syndrome. Right, VCFS.