Diagnostic Criteria Overview
Our assessment protocol relies on state-of-the-art criteria published in 2004 by the Centers for Disease Control. The science underlying these criteria included published peer-reviewed literature on the physical and neurodevelopmental effects of prenatal exposure to alcohol; research and surveillance data from national, state, and provincial organizations; and criteria from standard, widely used dysmorphology and neurodevelopmental textbooks or guides. This literature was then reviewed by a national team of experts in order to reach a consensus regarding diagnostic criteria. Medical diagnostic criteria are generally evaluated in two ways: reliability and validity. According to the CDC, the criteria that appear in the 2004 CDC guidelines meet both these requirements.
For forensic contexts involving crimes that occurred prior to the CDC guidelines, it is important to note that the scientific literature contained numerous peer-reviewed studies about FASD conditions as early as the 1970s, and the lay public became aware of FAS in the early 1980s when the U.S. Surgeon General made a national pronouncement warning women about the danger of drinking during pregnancy due to potential FAS. In 1996, the Institute of Medicine codified the diagnostic criteria for five FASD conditions. That same year, a landmark “Secondary Disabilities” study conducted at the University of Washington published ground-breaking data on the lifelong consequences of FASD. Thus, defense teams from as early as the 1970s were in a position to investigate the possibility of an FASD condition in their search for mitigating factors.
- Diagnostic Criterion #1
- Diagnostic Criterion #2 - Growth Deficits
- Diagnostic Criterion #3 - Central Nervous System (CNS) Abnormalities
- Diagnostic Criterion #4 - Maternal Alcohol Exposure
A variety of dysmorphic (misshapen) features have been associated with FASD since 1973 when Jones and colleagues focused on the short palpebral fissures (eyelid openings), maxillary hypoplasia (under-developed upper jaw), and epicanthal folds (fold at the inner corner of the upper eyelid) that were seen in a majority of children first described. Because teratogens interfere with cell development in the fetus, prenatal alcohol exposure during the first trimester when the facial features are being formed can distort the size, shape, and placement of those features. Despite the heterogeneity of dysmorphic expression, core facial features emerged by the 1980s through human and animal studies. According to the CDC (2004), the following core facial features now meet the dysmorphia criteria essential for FAS:
- Smooth philtrum (no groove between nose and upper lip): measured as 4 or 5 on the University of Washington Lip-Philtrum Guide
- Thin vermillion border (thin upper lip): measured as 4 or 5 on Lip-Philtrum Guide
- Small palpebral fissures (small eyelid openings): measured as < 10th percentile according to age and racial norms
An individual must exhibit all three of these facial features to meet criteria for Fetal Alcohol Syndrome (one of the FASD conditions), although there also may be additional features present. However, studies indicate that these features can change with age and development. Thus, after puberty, the characteristic facial features associated with FAS can become more difficult to detect.
- altered palmar fexional crease patterns (i.e., hockeystick crease)
- cardiac anomalies
- joint disability
- overlapping fingers
- ear anomalies
- hemangiomas (red skin lesion/”birthmark”)
- ptosis (drooping eyelids)
- hypoplastic (underdeveloped) nails
- pectus (chest) deformities
- microcephaly (small head circumference)
- short nose
- smooth philtrum with thin vermillion border
- cleft lip
- micrognathia (underdeveloped lower jaw)
- protruding auricles (ears)
- short or webbed neck
- vertebra and rib anomalies
- short metacarpal bones
- menigomyelocele (protrusion of spinal cord/brain tissue)
- hypoplastic (underdeveloped) labia majora
Growth retardation has been documented consistently in FAS. Criteria adopted by the CDC (2004) are as follows:
- Confirmed prenatal or postnatal height, weight, or both at or below the 10th percentile documented at any one point in time (adjusted for age, sex, gestational age, and race or ethnicity).
In terms of differential diagnosis, it is important that the single point in time when the growth deficit was present not correlate with a point in time when the individual was nutritionally deprived.
Central Nervous System (CNS) Abnormalities
More than 2,000 scientific papers regarding the teratogenic effects of alcohol exposure on the CNS were published between 1973 and 2003. A range of short- and long-term cognitive and behavioral outcomes were documented. Although the presentation of these cognitive-behavioral effects changes with development, CNS deficits generally persist throughout the lifespan. Longitudinal studies have found that many adults with FASD have complex mental health disorders and are unable to sustain successful independent living. Prenatal alcohol exposure can result in an array of structural, functional, and neurological problems as well as abnormalities of the CNS.
- Head circumference at or below 10th percentile, adjusted for age and sex
- Clinically significant brain abnormalities observable through imaging (e.g., Magnetic Resonance Imaging or MRI)
Neurological problems not due to postnatal insult or fever, or other soft neurological signs outside normal limits
Performance substantially below expectations based on age, schooling, or circumstances, as evidenced by:
- Global cognitive or intellectual deficits representing multiple domains of deficit (or significant developmental delay in younger children) with performance below the 3rd percentile (2 standard deviations below the mean on standardized testing)
- Functional deficits below the 16th percentile(1 standard deviation
below the mean on standardized testing) in at least 3 of the following
- cognitive or developmental deficits or discrepancies
- executive function deficits
- motor functioning delays
- problems with attention or hyperactivity
- social skill deficits
- other, such as sensory problems, pragmatic language problems, memory deficits, etc.
A diagnosis of FAS requires all three of the following:
- Documentation of all three facial abnormalities (smooth philtrum, thin vermillion border, and small palpebral fissures);
- Documentation of growth deficits; and
- Documentation of CNS abnormality.
Maternal Alcohol Exposure
Many professionals believe that FASD can only occur if the mother is an alcoholic or that the condition only occurs among low income families or in ethnic minority groups. Research has demonstrated that FASD can occur in women who drink only a few times or drink small amounts on a regular basis during pregnancy. FASD also can occur in all population groups.
Confirmed: requires documentation of maternal drinking pattern during the index pregnancy based on clinical observation, self-report, report of alcohol use during pregnancy by a reliable informant, medical record documenting positive blood alcohol level and/or alcohol treatment, or other social/legal/medical problems related to drinking during the pregnancy
Unknown: there is neither a confirmed presence nor confirmed absence of exposure (e.g., child is adopted and prenatal exposure is unknown, birth mother is an alcoholic but confirmed evidence of exposure during pregnancy does not exist, conflicting reports about exposure cannot be reliably resolved, etc.)