Consortium for Autism, Neurodevelopmental Disorders, andDigestive Diseases (CANDID)

自闭症、神经发育障碍和消化系统疾病联盟 (CANDID)

基本信息

批准号：
10318503
负责人：
William Estus Bennett
金额：
$ 2.22万
依托单位：
PHELAN-MCDERMID SYNDROME FOUNDATION
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-09-01 至 2023-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10318503
关键词：
ASD patient Academia Address Adult Affect Angelman Syndrome Area Attention Basic Science Biliary Tract Diseases CDKL5 disorder Caring Catalogs Childhood Clinical Clinical Research Collaborations Communities Consensus Constipation Deglutition Development Developmental Biology Diagnosis Digestive System Disorders Discipline Disease Educational workshop Elements Ensure Etiology Event Failure to Thrive Family Foundations Frequencies Functional Gastrointestinal Disorders Functional disorder Funding Future Gases Gastroesophageal reflux disease Gastrointestinal Diseases Gastrointestinal Motility Gastroparesis Goals Growth Guidelines Health Health Care Costs High Prevalence Impairment Incidence Individual Institutes Intellectual functioning disability Interdisciplinary Study International Large Intestine Learning Literature Mastication Measures Medical Medical Education Medical Genetics Morbidity - disease rate Mutation NIH Program Announcements Natural History Neuraxis Neurodevelopmental Disorder Neurologic Neurologic Dysfunctions Nonverbal Communication PTEN gene Pain Pathway interactions Patient advocacy Patients Pediatrics Phelan-McDermid syndrome Population Prevalence Publishing Quality of life Rare Diseases Reporting Research Research Personnel Resource Sharing Rett Syndrome Rome SCN8A gene Schools Science Seizures Series Severities Sleep disturbances Small Intestines Stress Symptoms Syndrome Therapeutic Trust Tube United States National Institutes of Health Vulnerable Populations Work Writing autism community autism spectrum disorder cell motility clinical data repository clinical phenotype cognitive ability comorbidity data repository dravet syndrome education research feeding gastrointestinal gastrointestinal symptom improved innovation insight meetings motility disorder patient advocacy group repository symposium virtual web page working group

ASD patient Academia Address Adult Affect Angelman Syndrome Area Attention Basic Science Biliary Tract Diseases CDKL5 disorder Caring Catalogs Childhood Clinical Clinical Research Collaborations Communities Consensus Constipation Deglutition Development Developmental Biology Diagnosis Digestive System Disorders Discipline Disease Educational workshop Elements Ensure Etiology Event Failure to Thrive Family Foundations Frequencies Functional Gastrointestinal Disorders Functional disorder Funding Future Gases Gastroesophageal reflux disease Gastrointestinal Diseases Gastrointestinal Motility Gastroparesis Goals Growth Guidelines Health Health Care Costs High Prevalence Impairment Incidence Individual Institutes Intellectual functioning disability Interdisciplinary Study International Large Intestine Learning Literature Mastication Measures Medical Medical Education Medical Genetics Morbidity - disease rate Mutation NIH Program Announcements Natural History Neuraxis Neurodevelopmental Disorder Neurologic Neurologic Dysfunctions Nonverbal Communication PTEN gene Pain Pathway interactions Patient advocacy Patients Pediatrics Phelan-McDermid syndrome Population Prevalence Publishing Quality of life Rare Diseases Reporting Research Research Personnel Resource Sharing Rett Syndrome Rome SCN8A gene Schools Science Seizures Series Severities Sleep disturbances Small Intestines Stress Symptoms Syndrome Therapeutic Trust Tube United States National Institutes of Health Vulnerable Populations Work Writing autism community autism spectrum disorder cell motility clinical data repository clinical phenotype cognitive ability comorbidity data repository dravet syndrome education research feeding gastrointestinal gastrointestinal symptom improved innovation insight meetings motility disorder patient advocacy group repository symposium virtual web page working group

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项目摘要

ABSTRACT There is an increased prevalence of gastrointestinal disorders (GI) in patients with neurodevelopmental disorders (NDDs) and autism. A diverse set of GI conditions with very high prevalence in the autism community are defined as functional gastrointestinal disorders (FGIDs) by international consensus via the Rome IV Criteria, the symptoms of which likely have a neurological basis (2). GI symptoms are one of the main determinants for decreased quality of life in patients and may include: GERD, IBS-‐like symptoms, dysmotility, chewing and swallowing dysfunction, feeding difficulty, gastroesophageal reflux, delayed gastric emptying, biliary tract disease, gas bloating, and constipation (1). The prevalence of FGIDs in these populations may be a gross under-‐estimate because many of these patients are nonverbal and do not express pain and discomfort normally (1). Failure to thrive can develop due to feeding problems and growth problems persist into adulthood in some disorders. A percentage of individuals with NDDs have G-‐tubes and GJ-‐tubes placed to facilitate feeding. Patients are often hospitalized due to the severity of symptoms and GI symptom-‐induced stress contributes to increased seizure frequency and sleep disturbance. The proposed meeting “Consortium for Autism, Neurodevelopmental Disorders, and Digestive Diseases (CANDID)” aims to convene stakeholders from NIH Institutes, patient advocacy groups (Rett Syndrome Research Trust, RettSyndrome.org, Dravet Syndrome Foundation, Phelan-‐McDermid Syndrome Foundation, PTEN Hamartoma Tumor Syndrome Foundation, ADNP Kids Research Foundation, Dup15Q Alliance, Angelman Syndrome Foundation, SYNGAP Education and Research Foundation, Ring14 USA, International Foundation for CDKL5 Research, Autism Science Foundation, and Autism Speaks), and academia in a coordinated effort to develop a set of short-‐ and long-‐term goals for both basic and clinical research in digestive health across autism spectrum disorders and other NDDs to increase therapeutic discovery for GI disorders in traditionally under-‐funded neurological rare diseases. Patient advocacy leaders will provide necessary and complementary insights to that of clinical and research experts to write competitive applications to relevant NIH ICs, with the potential for the creation of content-‐specific interdisciplinary research teams. During the meeting, we will form working groups composed of relevant experts in these fields, so that at the conclusion of the conference, momentum for these goals can continue. Specifically, we aim to (1) begin the development of a catalog of existing clinical and genetic data repositories maintained by individual organizations with relevance to exploratory research into digestive diseases in the autism and NDD community, (2) publish a summary of the discussion and consensus in the scientific literature, and develop a web page as a resource for shared repositories and facilitation of collaboration, and (3) inform postgraduate medical education for pediatric and adult GI fellows focused on the needs of patients with ASD.

抽象的患有胃肠道疾病（GI）患者的患病率增加神经发育障碍（NDDS）和自闭症。一套多样的GI条件在自闭症社区中的患病率很高，被定义为功能胃肠道疾病（FGID）通过罗马IV通过国际共识标准，其症状可能具有神经系统基础（2）。胃肠道症状是改善患者生活质量的主要决定因素之一，可能包括：GERD，IBS-喜欢症状，失调，咀嚼和吞咽功能障碍，进食难度，胃食管反流，胃排空延迟，胆道疾病，气体腹胀和便秘（1）。 FGID的患病率这些人口可能是一个不足的境地，因为许多患者是非语言的，通常不会表达疼痛和不适（1）。无法由于喂养问题和成长问题持续到在某些疾病中成年。 NDD患者的一部分有G-管和GJ-放置的管子以促进进食。病人经常由于症状和胃肠道症状的严重程度 - 诱发的压力有助于增加癫痫发作频率和睡眠障碍。拟议的会议“自闭症联盟，神经发育障碍和消化疾病（坦率）”旨在召集来自NIH研究所的利益相关者，患者倡导小组（Rett综合征研究信托，rettsyndrome.org，dravet PTEN HAMARTOMA综合基金会，PHEN-MCDERMID综合征基金会肿瘤综合征基金会，ADNP儿童研究基金会，DUP15Q联盟， Syngap教育与研究基金会Angelman综合征基金会， RING14美国，自闭症科学国际CDKL5研究基金会基金会和自闭症会说）和学术界，以协调一致的努力来开发消化的基础研究和临床研究的一组短期和长期目标跨自闭症谱系障碍和其他NDD的健康状况，以增加治疗在传统资金不足的神经系统罕见疾病中发现GI疾病的发现。患者倡导领导人将为此提供必要和完整的见解临床和研究专家为相关的NIH编写竞争应用程序 IC，有可能创建内容特定的跨学科研究团队。在会议期间，我们将组成由相关专家组成的工作组这些领域，因此在会议结束时，这些目标的动力可以继续。特别是，我们的目标是（1）开始开发的目录个人维护的现有临床和遗传数据存储库与探索性研究有关消化系统疾病的组织自闭症和NDD社区，（2）发布讨论和共识的摘要在科学文献中，并开发一个网页作为共享的资源存储库和协作的促进，以及（3）信息研究生医学儿科和成人GI研究员的教育专注于患者的需求 ASD。