Diagnosing the Full Spectrum of Fetal Alcohol-Exposed Individuals: Introducing the 4-Digit Diagnostic Code

Abstract

The medical/research records of 1014 patients diagnosed at the Washington State Fetal Alcohol Syndrome (FAS) Diagnostic and Prevention Network (DPN) of clinics were used to develop a new, comprehensive, reproducible method for diagnosing the full spectrum of outcomes among patients with prenatal alcohol exposure. This new diagnostic method, called the 4-Digit Diagnostic Code, was compared to the standard gestalt method of diagnosis on the first 454 patients who had received a gestalt diagnosis of FAS, atypical FAS (AFAS) or possible fetal alcohol effect (PFAE) prior to the development of the 4-Digit Diagnostic Code. The outcomes of the patients were more accurately and comprehensively documented by the 4-Digit Diagnostic Code, because of its use of quantitative, objective measurement scales and specific case definitions. The four digits in the code reflect the magnitude of expression of the four key diagnostic features of FAS in the following order: (1) growth deficiency; (2) the FAS facial phenotype; (3) central nervous system damage/dysfunction; (4) gestational alcohol exposure. The magnitude of expression of each feature is ranked independently on a four-point Likert scale with 1 reflecting complete absence of the FAS feature and 4 reflecting a strong 'classic' presence of the FAS feature. The 4-Digit Diagnostic Code is being used effectively for diagnosis, screening, and surveillance efforts in all Washington State FAS DPN clinics.

Misdiagnosis and Missed Diagnoses in Foster and Adopted Children With Prenatal Alcohol Exposure

“…1 • Facial dysmorphology: abnormal measurements of the upper lip (rank 4 or 5) and the philtrum (rank 4 or 5) and shortened palpebral fissures based on direct measurement or, after 2003, according to analysis of facial features utilizing the Lip-Philtrum Guide and digital facial photograph based on the criteria of Astley and Clarren. 13,19 • Central nervous system abnormalities: demonstration of structural, neurologic, or functional central nervous system deficits 20 as documented by the presence of microcephaly (current head circumference below third percentile for age and gender) and/or functional deficits demonstrated as global cognitive delays with performance below the third percentile on standardized testing or 3 or more domains of neurodevelopmental functioning more than 2 SDs below the normed mean on standardized measures of neurocognitive, self-regulatory, or adaptive functioning.…”

Prevalence of Fetal Alcohol Spectrum Disorders in Child Care Settings: A Meta-analysis

“…26 Other diagnostic guidelines that have been used in the past include those published by Sokol and Clarren, 13 the criteria of the FASD Study Group of the Research Society on Alcoholism, 17 and those of Smith's Recognizable Patterns of Human Malformations 27 ; however, such guidelines are not considered sufficiently specific to ensure diagnostic accuracy. 28 The FAS Screen 29 has also been used to identify individuals with FAS; however, this is a screening tool and should not be used in replacement of a diagnostic system.…”

“…78 Thus, continuous, lifelong developmental and behavioral surveillance of such prenatally alcoholexposed children and youth should be provided by their primary health care provider to facilitate their ongoing treatment and referral needs. 82 It is important to point out that having a known history of prenatal alcohol exposure can have a significant impact on whether a child is diagnosed with FASD (with the exception of FAS, which can be diagnosed without confirmation of prenatal alcohol exposure 26,28,83 ); this can pose a significant problem in the diagnosis of the current population of at-risk individuals because this information is commonly unavailable or unverifiable. With regard to the …”

Elements of morphology: Standard terminology for the lips, mouth, and oral region

“…subjective Comments: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000] (see Fig. 17).…”