Relation over time between facial measurements and cognitive outcomes in fetal alcohol-exposed children.

BACKGROUND: The identification of individuals exposed prenatally to alcohol can be challenging, with only those having the characteristic pattern of facial features, central nervous system abnormality, and growth retardation receiving a clinical diagnosis of fetal alcohol syndrome (FAS). METHODS: Seventeen anthropometric measurements were obtained at 5 and 9 years from 125 Cape Town, South African children, studied since birth. The children were divided into 3 groups: FAS or partial FAS (PFAS), heavily exposed nonsyndromal (HE), and non-alcohol-exposed controls (C). Anthropometric measurements were evaluated for mean group differences. Logistic regression models were used to identify the subset of anthropometric measures that best predicted group membership. Anthropometric measurements were examined at the 2 ages in relation to prenatal alcohol exposure obtained prospectively from the mothers during pregnancy. Correlation of these facial measurements with key neurobehavioral outcomes including Wechsler Intelligence Scales for Children-IV IQ and eyeblink conditioning was used to assess their utility as indicators of alcohol-related central nervous system impairment. RESULTS: Significant group differences were found for the majority of the anthropometric measures, with means of these measures smaller in the FAS/PFAS compared with HE or C. Upper facial widths, ear length, lower facial depth, and eye widths were consistent predictors distinguishing those exposed to alcohol from those who were not. Using longitudinal data, unique measures were identified that predicted facial anomalies at one age but not the other, suggesting the face changes as the individual matures. And 41% of the FAS/PFAS group met criteria for microtia at both ages. Three of the predictive anthropometric measures were negatively related to measures of prenatal alcohol consumption, and all were positively related to at least 1 neurobehavioral outcome. CONCLUSIONS: The analysis of longitudinal data identified a common set of predictors, as well as some that are unique at each age. Prenatal alcohol exposure appears to have its primary effect on brain growth, reflected by smaller forehead widths, and may suppress neural crest migration to the branchial arches, reflected by deficits in ear length and mandibular dimensions. These results may improve diagnostic resolution and enhance our understanding of the relation between the face and the neuropsychological deficits that occur.

Unique facial features distinguish fetal alcohol syndrome patients and controls in diverse ethnic populations.

BACKGROUND: Effective management of fetal alcohol spectrum disorders (FASD) is dependent on the timely and reliable diagnosis of affected individuals. There are significant diagnostic difficulties because of the reduced prominence of facial features as children age to adulthood as well as potential population or ethnic differences in the most characteristic alcohol-related facial features. METHODS: A total of 276 subjects were recruited from 4 sites (Cape Town, South Africa; Helsinki, Finland; Buffalo, New York; and San Diego, California) and completed a detailed dysmorphology evaluation to classify subjects as either fetal alcohol syndrome (FAS; 43%) or control (57%). Computerized anthropometry was employed to identify facial features that could distinguish FAS patients from controls across a wide age range and across ethnically disparate study populations. RESULTS: Subjects were placed into 1 of 4 populations based on their ancestry (Cape Coloured, Finnish Caucasian, African American, or North American Caucasian). Analyses performed in each of the 4 study populations were able to identify a unique set of variables which provided excellent discrimination between the 2 groups (FAS, control). In each study group, at least one ocular-related measurement, shortened palpebral fissure, reduced outer canthal width, or reduced inner canthal width, was included in the final classification model. CONCLUSIONS: We found measurements that reflected reduced size of the eye orbit to be a consistent feature discriminating FAS and controls across each study population. However, each population had a unique, though often overlapping, set of variables which discriminated the 2 groups, suggesting important ethnic differences in the presentation of FAS. It is possible that these differences were accentuated by the wide age distribution of the study subjects.

The affect of tissue depth variation on craniofacial reconstructions.

We examined the affect of tissue depth variation on the reconstruction of facial form, through the application of the American method, utilizing published tissue depth measurements for emaciated, normal, and obese faces. In this preliminary study, three reconstructions were created on reproductions of the same skull for each set of tissue depth measurements. The resulting morphological variation was measured quantitatively using the anthropometric craniofacial variability index (CVI). This method employs 16 standard craniofacial anthropometric measurements and the results reflect "pattern variation" or facial harmony. We report no appreciable variation in the quantitative measure of the pattern facial form obtained from the three different sets of tissue depths. Facial similarity was assessed qualitatively utilizing surveys of photographs of the three reconstructions. Surveys indicated that subjects frequently perceived the reconstructions as representing different individuals. This disagreement indicates that size of the face may blind observers to similarities in facial form. This research is significant because it illustrates the confounding effect that normal human variation contributes in the successful recognition of individuals from a representational three-dimensional facial reconstruction. Research results suggest that successful identification could be increased if multiple reconstructions were created which reflect a wide range of possible outcomes for facial form. The creation of multiple facial images, from a single skull, will be facilitated as computerized versions of facial reconstruction are further developed and refined.

New perspectives on the face in fetal alcohol syndrome: what anthropometry tells us.

Fetal alcohol syndrome (FAS) refers to the adverse effects to the fetus from prenatal exposure to alcohol. Originally, the diagnosis of FAS was given only to those individuals that were the most severely affected. Since that time, it has become apparent that the effects of prenatal alcohol exposure are broad-based, and those individuals diagnosed with FAS represent the severe end of the continuum in their phenotypic expression. This study utilized 21 craniofacial anthropometric measurements on 100 prenatally exposed individuals to quantify the elements of the FAS facial phenotype and to extend the quantitative phenotype to individuals who exhibited less severe or incomplete manifestations of prenatal alcohol exposure.

Increased release of beta thromboglobulin during acute myocardial infarction.

Beta thromboglobulin (betaTG) is a platelet-specific protein released during platelet aggregation. To classify the role of platelet aggregation in acute myocardial infarction (AMI), betaTG levels were measured by means of a specific and highly sensitive radioimmunoassay in patients admitted to the Coronary Care Unit for the evaluation of acute chest pain. These levels were compared to creatine phosphokinase (CPK) values and the percentage of myocardial fraction (MB), as well as electrocardiographic criteria for AMI. Beta thromboglobulin was considered elevated when it was greater than 132 micro/1. The CPK and MB fraction were considered to indicate AMI if there was an increase of MB fraction greater than 5% of the total CPK and a progressive increase of the total CPK and MB fraction during the course of the disease. Ten patients were compared to 28 control subjects. Seven patients had electrocardiographic evidence of AMI in addition to CPK and MB criteria. Six of these patients also had elevated betaTG values, whereas one did not. This patient was admitted late during his clinical course, as evidenced by the CPK-MB curve. Of the three patients without clinical evidence of AMI, two had normal betaTG levels, whereas the third patient had one normal betaTG level and one mildly elevated level. This study implicates the role of platelet aggregation in AMI and suggests its potential usefulness as a diagnostic aid in evaluating acute chest pain.