FASD Diagnostic Telemedicine Resource

FASD 诊断远程医疗资源

• 批准号: 10703404
• 负责人: Miguel del Campo Casanelles
• 金额: $ 35.51万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN DIEGO
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-15 至 2027-04-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10703404
• 关键词: 3-Dimensional; Address; Adult; Alaska; Alcohols; Algorithms; Area; Brain; Characteristics; Child; Clinic; Clinical; Collaborations; Communities; Complement; Computers; Detection; Development; Diagnosis; Diagnostic; Diagnostic Imaging; Diagnostic Services; Dysmorphology; Early Intervention; Ensure; Evaluation; Face; Failure; Fetal Alcohol Exposure; Fetal Alcohol Spectrum Disorder; Funding; Genes; Goals; Health Personnel; Healthcare; Image; Improve Access; Individual; Intervention; Life; Live Birth; Measurement; Methods; Modality; Monitor; Patient Recruitments; Persons; Physical assessment; Probability; Provider; Public Health; Research; Research Personnel; Resources; Sampling; Services; Site; Standardization; Syndrome; Telemedicine; Testing; Training; Trees; Work; accurate diagnosis; cost; diagnostic accuracy; disease classification; eHealth; effectiveness evaluation; feature detection; fetal diagnosis; geographic barrier; health training; improved; novel; prenatal; screening; smartphone application; tool

Project Summary Prenatal alcohol exposure is estimated to impact 1-5% of children in the US alone. Yet, many individuals who have been exposed prenatally to alcohol and suffer from fetal alcohol spectrum disorders (FASD) fail to be recognized. This failure is due, in large part, to a paucity of specialized clinics and expert dysmorphologists who are trained to identify FASD. Access to appropriate diagnostic expertise is particularly limited in remote areas. Unfortunately, if individuals with FASD are not recognized and diagnosed, they do not receive critically needed services nor can they access potential interventions early in life, when intervention is most likely to be effective. The CIFASD5 Diagnostic-Telemedicine Resource (DTR) will ensure consistent and accurate assessment of the physical characteristics of FASD across the CIFASD research sites. In addition, the DTR will address the critical need for increased diagnostic capacity through training of non-expert practitioners across CIFASD5 sites using telemedicine-based methods. In the previous CIFASD4 iteration, telemedicine approaches were tested for this purpose in a small sample of clinicians and found to be an effective method for training and monitoring of new examiners. In CIFASD5, this method will be extended to multiple sites and be employed in the evaluation of over 1,800 children and adults. However, telemedicine alone is insufficient to expand capacity and ensure consistency and accuracy of diagnosis. To that end, several novel eHealth tools have been developed to assist in the detection of physical features associated with prenatal alcohol exposure. These tools hold promise in providing simple and efficient ways to screen and identify FASD. These include MorpheusQ, a smart-phone based app that automates facial feature detection; Face-to-Gene, a 2D facial image diagnostic aid used by clinical geneticists to screen for potential syndromes; and 3D facial image signatures. These tools are scalable and have the potential to improve screening and diagnosis across the globe, even in remote areas, such as in Alaska. However, the diagnostic accuracy of these tools needs to be systematically compared to standardized dysmorphological exams. It is essential to determine whether eHealth tools can effectively replace and/or improve traditional exams before they are widely implemented.

项目摘要 据估计，仅在美国，产前酒精暴露就影响了1-5%的儿童。但很多 产前暴露于酒精并患有胎儿酒精谱的个体 疾病（FASD）不能被识别。这一失败在很大程度上是由于缺乏专门的 接受过FASD识别培训的畸形学家。获得适当 在偏远地区，诊断专门知识尤其有限。不幸的是，如果患有FASD的人 得不到承认和诊断，他们得不到急需的服务， 在生命早期获得潜在的干预措施，此时干预措施最有可能有效。 CIFASD 5诊断-远程医疗资源（DTR）将确保一致和准确 在CIFASD研究中心评估FASD的物理特征。在 此外，DTR将通过培训来满足提高诊断能力的迫切需要 CIFASD 5网站使用基于远程医疗的方法的非专家从业人员。在 在先前的CIFASD 4迭代中，远程医疗方法在一个小的 样本的临床医生，并发现是一种有效的方法，培训和监测新的 考官在CIFASD 5中，该方法将扩展到多个站点，并在 对1,800多名儿童和成人进行了评估。 然而，光靠远程医疗不足以扩大能力和确保一致性， 诊断的准确性。为此，开发了一些新的电子保健工具，以协助 检测与产前酒精暴露相关的身体特征。这些工具可以 承诺提供简单有效的方法来筛选和识别FASD。这些包括 MorpheusQ，一个基于智能手机的应用程序，自动化面部特征检测; Face-to-Gene，一个 2D面部图像诊断辅助临床遗传学家用于筛选潜在的综合征;和 3D面部图像签名。这些工具是可扩展的，有潜力改善筛查 并在全球范围内进行诊断，即使是在阿拉斯加等偏远地区。地球仪。然而，诊断 这些工具的准确性需要系统地与标准化的形态学 考试必须确定电子卫生工具是否能够有效地取代和/或改善 传统的考试在广泛实施之前。

项目成果

Altered Parietal Activation during Non-symbolic Number Comparison in Children with Prenatal Alcohol Exposure.

产前酒精暴露儿童在非符号数字比较过程中顶叶激活发生变化

• DOI: 10.3389/fnhum.2017.00627
• 发表时间: 2017
• 期刊: Frontiers in human neuroscience
• 影响因子: 2.9
• 作者: Woods KJ;Jacobson SW;Molteno CD;Jacobson JL;Meintjes EM
• 通讯作者: Meintjes EM

An auditory Go/No-Go study of event-related potentials in children with fetal alcohol spectrum disorders.

胎儿酒精谱系障碍儿童事件相关电位的听觉 Go/No-Go 研究。

• DOI: 10.1109/iembs.2011.6090181
• 发表时间: 2011
• 期刊: Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
• 作者: Steinmann,TobiasP;Andrew,ColinM;Thomsen,CarstenE;Kjær,TroelsW;Meintjes,ErnestaM;Molteno,ChristopherD;Jacobson,JosephB;Jacobson,SandraW;Sorensen,HelgeBD
• 通讯作者: Sorensen,HelgeBD

Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome.

胎儿酒精综合征儿童睑裂长度短的发育发病机制。

• DOI: 10.1002/bdra.20585
• 发表时间: 2009
• 期刊: Birth defects research. Part A, Clinical and molecular teratology
• 作者: Jones,KennethLyons;Hoyme,HEugene;Robinson,LutherK;delCampo,Miguel;Manning,MelanieA;Bakhireva,LudmilaN;Prewitt,LelaM;Chambers,ChristinaD
• 通讯作者: Chambers,ChristinaD

Parietal dysfunction during number processing in children with fetal alcohol spectrum disorders.

患有胎儿酒精谱系障碍的儿童在数字处理过程中的顶叶功能障碍。

• DOI: 10.1016/j.nicl.2015.03.023
• 发表时间: 2015
• 期刊: NeuroImage. Clinical
• 作者: Woods,KJ;Meintjes,EM;Molteno,CD;Jacobson,SW;Jacobson,JL
• 通讯作者: Jacobson,JL

Fetal alcohol spectrum disorders: Extending the range of structural defects.

• DOI: 10.1002/ajmg.a.33675
• 发表时间: 2010-11
• 期刊: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
• 影响因子: 2
• 作者: Jones, Kenneth Lyons;Hoyme, H. Eugene;Robinson, Luther K.;del Campo, Miguel;Manning, Melanie A.;Prewitt, Lela M.;Chambers, Christina D.
• 通讯作者: Chambers, Christina D.