Dysmorphology Core

University Of California, San Diego, La Jolla CA

Investigators

Linked publications & trials

Abstract

DESCRIPTION (provided by applicant): Although the brain is the developing structure most sensitive to alcohol, the diagnosis of Fetal Alcohol syndrome (FAS), which represents the most severe end of the spectrum of Fetal Alcohol Spectrum Disorders (FASD), is presently dependent, not upon alterations of brain structure or behavior, but upon features identified on a careful physical examination. Over the previous funding periods the Dysmorphology Core has evaluated 345 subjects with FAS, 771 who have been Deferred and 502 with NO FAS at consortium sites throughout the world. The specific aims of this proposal are to continue to support these activities throughout the renewal period at all consortium sites, to develop a training DVD that could be used to teach physicians and other health care professionals with little or no experience in diagnosis of FASD to successfully diagnose or rule out this disorder, to develop with the help of the Telemedicine Communications Center at the University of California, San Diego (UCSD), a wireless, interactive, audiovisual tele-consultation system that will provide the opportunity for a practitioner in a remote area to perform a comprehensive examination of a child considered to have Fetal Alcohol Spectrum Disorders (FASD) that could be simultaneously viewed, by an expert dysmorphologist at UCSD, and to document the prevalence of major malformations in children prenatally exposed to alcohol, and in so doing, delineate the extent of Alcohol Related Birth Defects (ARBD). Furthermore, the development of a training DVD to teach physicians and other health care providers an approach to diagnosis of FASD will help fill the gap in access to expert diagnosticians. Finally, given the significant morbidity and mortality associated with major structural defects, a rigorous evaluation for Alcohol Related Birth Defects (ARBD) will give important information regarding the need to screen children for these defects based on having been exposed prenatally to alcohol.