While clinicians agree that effective management of FAS-related problems depends on a timely and reliable diagnosis clearly identifying accompanying facial features has been challenging. It now appears that computerized craniofacial anthropometry - measurement of the human face from 3D facial images - may help to diagnose patients with FAS change surface across ethnically disparate populations.
"Craniofacial anthropometry is the precise measurement of the head and face," said Elizabeth S. Moore investigate scientist at St. Vincent Hospital and corresponding compose for the study. "It has mostly been used as a descriptive tool and has helped clinicians in the description diagnosis and surgical treatment of abnormal skeletal and facial patterns. It is especially useful in medical genetics because many of the syndromes present at bring forth - such as Apert. Down and Soto - involve the continue and face so it can back up clinicians to objectively exposit what they are seeing."
"The identification of individuals with FAS and even more so the early identification has remained a challenge over the years," added Kenneth R. Warren associate director for Basic investigate at the National Institute on Alcohol Abuse and Alcoholism. "First there is no genetic marker for FAS. The back up problem arises from the subtle nature of the facial dysmorphic features as all the features in FAS are also seen in the normal population. No one of these features alone - flat philtrum change state upper lip small palpebral fissures etc. - would be abnormal to any physician." What is unique about FAS he said is the presence of all of these features as a cluster along with a head circumference below the 10th percentile.
As part of the international Collaborative Initiative on Fetal Alcohol Spectrum Disorders (CIFASD) researchers recruited 276 subjects from four sites - Cape Town. South Africa; Helsinki. Finland; Buffalo. New York; and San Diego. California - and obtained 3D facial images and detailed dysmorphology evaluations to classify subjects as either FAS (43%) or "control" subjects (57%). Most (54% or 149) of the participants were female; their ages ranged from 2.75 to 21.17 years of age. Study authors then used computerized anthropometry to identify facial features among the wide age range and disparate ethnicities of the study populations.
"One key finding of this chew over is that [a] reduced length of the eye opening is open across children of different ethnicities," said Moore. "This means [that] a 'shortening' of the eye from the inside corner to the outer command may designate reductions in the size of the eye globe and/or boney orbit. It was also found that in each of the ethnic populations unique facial features were identified which distinguished individuals with alcohol exposure from controls. This latter finding suggests that FAS differs across the various ethnic groups making it potentially more difficult to determine individuals who were prenatally exposed to alcohol."
"The results related to the size of the eye circle emphasize that impairment in the development of the eye is a common teratogenic action of alcohol," said Warren. "The coat of the eye orbit is a function of the coat of the eye."
"We wish that future research will sight out why there are overlapping measurements why do the eye measurements always show up and why there are some measurements unique to specific ethnic groups," said Moore. "We may find that the eyes are consistently affected in all populations regardless of ethnicity because of the areas of the brain that are damaged or because alcohol always affects the cells that will form the eye. Or the eye-consistent measurements could be secondary to the way alcohol affects facial and brain development." Moore's assort. CIFASD has just received funding for the next five years to continue with this work expanding in the United States and South Africa as well as into the Ukraine.
"One possible outcome could be the ability to refer a enter of an individual suspected of being affected by FAS to a 'facial recognition' program that has been 'trained' to determine subtle but diagnostic features associated with such exposures," said Moore.
"Given the subtle nature of FAS deficits accurate diagnoses have depended upon evaluations by a sub-specialty of paediatricians known as dysmorphologists at a very small number of academic hospitals," added Warren. "The use of craniofacial anthropometry offers the potential to both improve and make even more objective the diagnosis of FAS; and extends the availability of diagnostic capability to a much broader be of clinicians. In addition craniofacial anthropometry - particularly if coupled with MRI non-invasive imaging - could help to determine the specific nature of the underlying brain-structural deficits in FAS."
"It is important to remember that the effects of alcohol are along a continuum," said Moore. "The same be of alcohol can produce different results due to numerous environmental and genetic factors. Our research is trying to offer more insights into how and why alcohol affects humans and how what a clinician sees relates to the brain and behavior. By exceed understanding the specific regions of the face which are affected and more importantly by linking this information to studies of how brain and behavior are affected a exceed conceive of should appear of how alcohol damages the developing baby. Perhaps it may even be possible to prevent fetal alter by using certain substances that block alcohol's actions. At the very least we wish that improved detection could bring about to earlier intervention for at-risk children and through this better chances for improving the lives of such children."
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