INTELLIGENT CONSULTATION IN DOWN SYNDROME Rosa Cedeño#1, Dorys Acosta*2 #1
Chair Telemedicine. Zulia University Medicine Faculty Maracaibo VENEZUELA 1
[email protected]
Abstract— It is considered to Down's Syndrome (SD) the most frequent chromosomal anomaly observed in humans , which occurs with an incidence of 1/700 live newborns and turns out to be the first reason of motive of consultation in any clinic of genetics or in the institutions to that children attend with problems of mental retardation. The bibliography on the SD is extensive and of different levels of complexity and today united to the use of the telecommunications and the computer science in the health, there have been designed diverse means of diffusion of the knowledge and divulgative programs that allow a better conduction of the SD. The aim of this paper is the presentation of a resource multimedia that tries to report and advise to the family before and after the birth of a child with SD and it describe some of the standard and specialized care that may be required for a patient with Down syndrome.
Keys Words: Down Syndrome, Multimedia resource
I. INTRODUCTION Down syndrome (DS) is the most common aneuploid disorder, with a frequency of 1/700 live births worldwide.[1] People with DS are part of our community and as such are part of our patients population. Tremendous advances in Scientific and Medical Technologies have resulted in a significant increase in the survival rate of infants with DS. [2] The key for a good quality of life’s DS is to be familiar with this condition, for obtain in the future a less mortality rate and know how their pool of genes implications in the others medical conditions .[1] The phenotype of DS are the characteristics, with often appear together, as a syndrome. People who have DS are more likely to share one or more dismorphic traits and characteristic specific behaviors, as opposed to those with a general developmental delay. The family play a vital role in providing health care to children with DS In our country 100% of individuals with DS reside in their family home. Physicians in residence as well as medical students rarely receive training related to communicating with parents who receive a prenatal or postnatal diagnosis of DS. In consequence, unfortunately, most parents expressed dissatisfaction with the content and the manner in which information have been delivered to them, and in one largescale study, the majority of mothers reported a sense of fear, anxiety, or both upon receiving the diagnosis.[3]. In response to this need a core development team consisting of a physician (medical genetic specialist), an expert in instructional
technology and three parents of children with DS, developed a multimedia (virtual patient) instructional module in CD – ROM format, involving a child with DS and a fetus with prenatal diagnosis of DS. It including genetic basic instructional and Genetic Counseling module and named “I am happy” (IAH). It is obvious that the family need initiatives to increase educational opportunities and support to caring for their offsprings with DS. The physicians in residence as well as medical students may provide accurate and balanced information to parents when the initial diagnosis of DS is made, for such reason they might to know to provide certainly and empathic information on this area. Divers studies [2],[4], found that exposing nursing students to clinical placements with individuals having disabilities in community and/or family settings significantly improved the students' attitudes about working with this population. More recent studies of virtual patients (VP), clinical instruction for medical and dental studies demonstrated that the VP format was at least as effective as—and occasionally superior to— having “live” standardized patients and/or classroom instruction [5]-[7]. The purpose of this CD-ROM was to: 1. Increase the information actually about the health skill in DS with the use of the Technology of Communication and Information (TIC). 2. Teach appropriate methods for counseling patients at the time immediately after the diagnosis. 3. Update knowledge about available community resources 4. Develop a network named “+21” integrated for persons interested in DS to pursue the dialogue for to explain doubts, concepts and wrongs practice in management of DS 5. Support a new vision of the future of the DS for their attention with a better handling. In this paper, the second section will provide an overwiew of Interactive multimedia instruction and others software relative to DS. The third presents Methodology with results about the survey and the details relative architecture of our multimedia resource and the fourth section, are the conclusions.
II. Interactive multimedia instruction and others Softwares relative to Down Syndrome Interactive multimedia instruction, involving computerassisted training and/or a “virtual patient” (VP) instructional format, provides an alternative to hands-on clinical experience with demonstrated efficacy in a variety of domains, [8] Interactive multimedia instructional modules allow students to work at their own pace while typically providing immediate feedback [8]-[11].
There are several software programs for risk calculations and the interpretation of risk for DS recently developed. JOY software package allowed reliable evaluation of the risk for aneuploidy with increased specificity whereas sensitivity was unchanged.[ 12] II. METHODOLOGY A. Survey We conducted semi-structured survey pre and post test about genetic basic and genetic counseling of DS, and some aspects relative to use of technology in genetic learning. It was applied to physicians in residence and medical students. The core research questions were: Are there a typical profile associated with Down syndrome for made a diagnosis ? In the pregnancy, which is the risk for DS and which is the technology for to made the prenatal diagnosis? What role does technology play in the learning of genetic? How do you find, adquire and use the technologies? What are the key factors that increase or decrease adoption of technology in your learning? This survey was applied to a sample of 40medical students at the first years course from ZuliaUniversity and fifteen physicians residents specializing in obstetric and gynecology and ten in pediatric. The end sample “U” was a total of forty students and twenty-five physicians in residence. Knowledge and attitudes were assessed by using a 16-item pretest/post test, the results of which were then analyzed by using standard statistical methods. The results of a total of 25 residents and 40 students completed the pretest, and only 25% of the residents and 12% for the students knowledge risk measures for DS . Statistically and clinically significant improvements were seen in students and residents' general knowledge, knowledge of adverse events and knowledge about risk measures by post-test. B.Architecture The present offer has as purpose develop an instructional resource that contributes to the improvement of the strategies and technologies of the learning process. It is offering to medical students, physicians and parents’ DS an edumatic tool tutorial type, that allows the intelligent consultation of DS and of this way to orientate the application of the knowledge from the practical point of view. In the same order, bearing in mind that the development of the software will be based on the model of Peré Marqués as a tutorial, and for the
development of the aims we decided following Bloom's taxonomic.[11] IAH is a software for pedagogical usage, developed as a support to Intelligent consultation of DS. It was designed to help physicians and parents to learn and improve knowledge about DS. An interactive multimedia VP instructional module was developed in CD-ROM format. DS as an interactive format typically allows students to learn at their own pace, and the format provides for prompt feedback, which supports student metacognition. Metacognition, or systematically reflecting upon one’s own thinking and problem-solving skills, is a key feature that distinguishes more competent from less competent learners. . The first section involving a child boy with DS and the second part demonstrating the necessary requeriments for prenatal diagnosis The process used to develop a CD-ROM for physicians in residence as well as medical students that can be used as an interactive instructional program.. A description of the use of Gagne's instructional design theory is incorporated as a framework to guide the project [13]. The core team possess knowledge expertise and must become involved in the design of new teaching methodologies and the parents’ primary role was to describe their perspectives about how parents should be told of the diagnosis. Team worked in an iterative fashion to refine the teaching module. If instructional design principles are followed when using authoring software, learners are motivated with real, challenging, life-like, non threatening scenarios to expand their critical-thinking and decision-making skills. Once it can be freely downloaded, a wide range of people ‘ll be use it. This hypermedia was not designed for people with special needs, the level of accessibility is restricted for disability persons in this first version. In this work, hypermedia technology has emerged as a powerful method of instruction that allows the user to experience new concepts, gain cognitive skill, and encounter realistic clinical situations in a no-harm environment. C. Hardware and Software For the development of the software we were in use: Two (2) computers with monitor to color at least, 14 ", processor Pentium Core Duo, with speed of processing of 2.6 Ghz, 1024 RAM's Mb 128 Mb of video, unit reading - writing CD of 8x12x32x, Kit multimedia . A computer was in use for the graphical design and other one for the product development and the edition of multimedia. · Peripheral to digitize video ( color, 30 pictures per second), audio (stereo, to 11 KHz of sampling rate), and static and animated images (to color, resolution of 300 dpi). In addition they were estimated near 300 Mb to store and to edit the information on hard disk. Operating system for to administer the resources: Windows professional XP and / or Linux. Programme to retouch the digitized information and to create illustrations: Macromedia Freehand 10.0 and Adobe Photoshop 7.0 · Programmes to develop the animations:
macromedia Flash MX · Program of authorship that allowed to integrate the different means in an alone application: Macroamedia Authorware 7.5 Attain To execute it is needed: · A computing Pentium IV or Superior, with monitor to color of at least, 14 " · Processor of 64 bits, speed of processing of 2.6 Ghz, 1020 Mb of RAM, 128 Mb of video Unit reading CD of 52X, full Kit multimedia
[9]
[10]
[11]
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III. CONCLUSIONS The framework presents in this paper has the purpose to communicate information to users (physicians and medical students) and , future parents about DS Our software is a first hypermedia in our country, that incorporates sound, video, graphics, text, and interaction about the learning process of DS. The use of computers in genetic education has evolved very faster to practice tutorials to challenging presentations. Hypermedia technology has emerged as a powerful method of instruction that allows the user to experience new concepts, gain cognitive skill, and encounter realistic clinical situations in a no-harm environment. Hypermedia incorporates sound, video, graphics, text, and interaction.. The study participants increase knowledge regarding clinical concerns that often present in patients with DS. Specific student competencies for working with this patient population should be developed to subsequently shape curricular experiencies.
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