Dysmorphology Core Progress Report April 2014 Kenneth Lyons Jones, M.D. Department of Pediatrics University of California, San Diego School of Medicine San Diego, CA

Specific Aim #1: Assure consistency and accuracy in recognition of FASDs at all CIFASD sites Use the previously established CIFASD physical examination protocol and classification system to perform and/or validate physical examinations of all infants and children who were participants in the CIFASD renewal project who have not previously been examined by the Core examination team. Use the previously established CIFASD examination training protocol to provide on - going training and re-training of local pediatricians/neonatologists/geneticists who are providing preliminary examinations at some CIFASD sites.

Accomplishments and Plans Specific Aim 1 Overall 3273 standardized physical examinations have been completed on 2264 unique subjects. 285 of those examinations have been performed since April 2013. That has included 55 children in Atlanta, 15 children in Los Angeles, 144 children in Minneapolis, 56 children in San Diego, 14 children in Khmelnytsky and 1 in RivneOver the last year we have provided accurate recognition of FASD at two sites in Ukraine.

Specific Aim #2: To develop a training DVD to teach physicians to identify the structural features of FAS and to successfully diagnose or rule out that disorder . Will develop a number of training DVDs that will include effected children at a variety of different ages Will compare effectiveness of that training DVD with a hands-on live training program done by a member of the Dysmorphology core. That will be accomplished by comparing pediatricians who have completed training with the DVD to pediatricians who have been trained by a member of the dysmorphology core. They will be compared based on their ability to correctly identify features of FASD as well as their ability to make a diagnosis of FASD.

Accomplishments and Plans Specific Aim #2 We have developed a 20 minute DVD of a neonate and a 20 minute DVD of a 6 year old child that demonstrates a careful Dysmorphology examination that focuses on minor malformations in structural development. Having shown that this can be developed and that it is effective in training Pediatric residents, we have developed a shorter version which focuses entirely on minor malformations that are diagnostic of FAS.

Specific Aim #3: To develop a methodology whereby long-distance consultation can be provided to physicians and other health care providers in outlying areas throughout the world. Will develop, a wireless, interactive, audiovisual tele-consultation system that would provide the opportunity for a practitioner in one remote locale to perform a comprehensive examination of a child being evaluated for FASD that could be viewed, commented upon and corrected by an expert dysmorphologist at a central location.

Accomplishments Plans Specific Aim #3 Unfortunately, following a trip to Ukraine with our IT person which included extensive discussions about various alternative strategies necessitated by the need to adapt to various geographic locals, government agencies, individuals and population densities in Ukraine, we have concluded that collaboration on this specific aim with one of the Ukrainian sites will not be possible and that collaboration with the other site will be extremely difficult. An alternative site at the University of Minnesota is in the process of being established. We believe this can be done with the existing internet and network services on that campus. In mid-May IT people from our division at UCSD will meet with IT people at the University of Minnesota to hopefully implement the plan

Accomplishments Plans Specific Aim #3 Phase I: Pilot Consultatons This phase gives remote physicians and healthcare providers the capability to film the physical exam, complete the required accompanying documents, and securely transmit them via the internet to Dr. Jones for review and schedule a consultation. The remote physician will be looking at the the participant document and video at their site and I will be looking at the same information in San Diego.

Accomplishments Plans Specific Aim #3 Phase I Exam Documented to Video Resulting data transferred via internet to a secured storage repository, and an email notification will be sent to me to schedule a consultation. The storage repository will be equipped with SharePoint data management software, enabling secure data sharing btw. study locations. Network security will utilize AES encryption compliant to U.S. HIPAA The videos will be shared only with me and will be destroyed following the consultation

Accomplishments Plans Specific Aim #3 Phase II: Real-Time Consultations This phase will give physicians and healthcare providers the capability to perform the clinical examination and consultation with Dr. Jones during a live session at the remote site. Real-time consultations will follow protocols and procedures similar to pilot consultations. Appointments will be scheduled via email. Consent forms will be required prior to conducting and recording examinations and sent with compressed media files to the secured remote storage repository as part of an encrypted participant packet. A telemedicine cart that is equipped with the computer system hardware, software and camera to support the real-time consultation will be utilized.