Fetal Alcohol Syndrome Diagnosis, Epidemiology, Prevention, and Treatment (1996) / Chapter Skim
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4 Diagnosis and Clinical Evaluation of Fetal Alcohol Syndrome
4 Diagnosis and Clinical Evaluation of Fetal Alcohol Syndrome
Pages 63-81
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From page 63... ...
Current discussions of FAS have also included discussions of a related condition known as "fetal alcohol effects." This latter condition has been variably defined, but often includes the concept that a subset of FAS features can occur and be related to a suspected maternal exposure to alcohol. Difficulties in obtaining an adequate history of alcohol intake, a widely recognized problem in medical evaluation, add to the complexity of this issue.
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From page 64... ...
Providing a diagnostic label for a condition gives clinicians a common language that is useful in discussion. Diagnoses such as measles or fetal alcohol syndrome provide clinicians with a term that invokes a concept.
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From page 65... ...
If nosologists were to decide, for example, that height should be used as a criterion for diagnosing mental retardation, since it can be measured in a reliable manner, they would be choosing a criterion that had excellent reliability, but questionable validity. Clearly, therefore, it is important that diagnostic criteria contain components that are clinically meaningful and that lead to correct inferences about the nature of the pathological process.
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From page 66... ...
A final issue that arises in deciding on the explicit items to be used in diagnostic criteria is whether the conceptual construct should be narrow or broad. This issue is clearly related to both the gatekeeping function and the descriptive function.
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From page 67... ...
6. What is the relationship of so-called fetal alcohol effects to fetal alcohol syndrome?
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From page 68... ...
As Chapter 1 outlined, the committee focused its diagnostic criteria work in this chapter on the effects of exposure to large amounts of alcohol. Any conclusions made concerning the definition of alcohol exposure for FAS will have widereaching public health and social implications; hence, this a not a minor issue.
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From page 69... ...
Application of such normative standards to pregnancies at risk for FAS can be expected to increase our ability to recognize fetal growth retardation and may contribute to earlier recognition of FAS. When the healthy human fetal growth curve is determined by serial ultrasound examinations of babies of normal size who go on to deliver at term, the fetal weight at each gestational age is greater than that described from birth
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From page 70... ...
Therefore, identification of these anomalies will be easier or more difficult depending on the age at which the child is assessed. Relationship of Fetal Alcohol Effects to Fetal Alcohol Syndrome The term fetal alcohol effects, as described below, was originally developed to describe abnormalities observed in animal studies, but was quickly adopted by clinicians.
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From page 71... ...
Fetal alcohol syndrome does not represent the full spectrum of alcohol teratogenesis, but rather comprises a subset of patients who were exposed to alcohol and who have a unique recognizable pattern of malformation. The condition has evolved from initial case reports by Lemoine in 1968 and Jones and Smith in 1973.
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From page 72... ...
At present, the facial anomalies observed in FAS remain the most unique feature of the disorder (see Figure 1 in Chapter 1~. No one can receive an FAS diagnosis without an experienced clinician's assertion that the face, when taken as a whole, appears to be the FAS face.
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From page 73... ...
. The initial cases of fetal alcohol syndrome were often culled from early assessments of children failing to thrive.
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From page 74... ...
These new criteria can be found in Table 4-1. The diagnostic criteria for FAS as described in the preceding section are found under Category 1, FAS with confirmed maternal alcohol exposure.
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From page 75... ...
They do not have FAS. Category 3, partial FAS with confirmed maternal alcohol exposure, is assigned to patients with a confirmed exposure to substantial amounts of alcohol in gestation, some components of the facial features of FAS, and any of the following: evidence of growth deficiency, CNS neurodevelopmental abnormalities, or a complex pattern of behavioral and cognitive abnormalities.
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From page 76... ...
Evidence of a complex pattern of behavior or cognitive abnormalities that are inconsistent with developmental level and cannot be explained by familial background or environment alone, such as learning difficulties; deficits in school performance; poor impulse control; problems in social perception; deficits in higher level receptive and expressive language; poor capacity for abstraction or metacognition; specific deficits in mathematical skills; or problems in memory, attention, or judgment Alcohol-Related Effects Clinical conditions in which there is a history of maternal alcohol exposure, and where clinical or animal research has linked maternal alcohol ingestion to an observed outcome.
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From page 77... ...
77 . ev~aence or a comp~ex pattern ot behavior or cognitive abnormalities that are inconsistent with developmental level and cannot be explained by familial background or environment alone, such as learning difficulties; deficits in school performance; poor impulse control; problems in social perception; deficits in higher level receptive and expressive language; poor capacity for abstraction or metacognition; specific deficits in mathematical skills; or problems in memory, attention, or judgment aA pattern of excessive intake characterized by substantial, regular intake or heavy episodic drinking.
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From page 78... ...
A history of confirmed maternal alcohol exposure is required for these diagnoses. The relevant history remains as defined for FAS, but the committee notes that as further research is completed and as, or if, lower quantities or variable patterns of alcohol use are associated with ARBD or ARND, these patterns of alcohol use should be incorporated into the diagnostic criteria.
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From page 79... ...
DIFFERENTIAL DIAGNOSIS While the "classic" presentation of fetal alcohol syndrome is distinct and can be readily distinguished from other disorders by an expert, even an expert may have difficulty confirming the diagnosis of FAS when the phenotype is "incomplete" or "atypical." Syndromes that have been confused with fetal alcohol syndrome are conditions that feature growth deficiencies and facial anomalies that are suggestive of, but different overall from, FAS. Examples of conditions confused with FAS because of somewhat similar appearance are Aarskog syndrome, Williams syndrome, Noonan's syndrome, Dubowitz syndrome, Bloom syndrome, fetal hydantoin syndrome, maternal PKU (phenylketonuria)
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From page 80... ...
There have been no studies to demonstrate that secondary disabilities are better prevented if the diagnosis is made in the birth to three-year versus four- to seven-year period, but most professionals believe that the diagnosis becomes increasingly less effective in maximizing outcomes if the disorder is left unrecognized into adolescence. RECOMMENDATIONS: DIAGNOSTIC CRITERIA The committee-revised diagnostic criteria aim to increase clarity, rigor, and consistency by expanding the traditional designations of fetal alcohol syndrome and other possible alcohol-related effects.
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From page 81... ...
The fetal alcohol syndrome. New England Journal of Medicine 1978; 298: 1063-1067.
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