Parental Perspectives of the Impact of Epilepsy and Seizures on Siblings of Children with Epilepsy.

INTRODUCTION: To assess parental perspectives of the impact of epilepsy and seizures on siblings of children in the Seizures and Outcomes Study. METHODS: Parents completed surveys about their child with epilepsy, their own health and well-being, and the impact of epilepsy on unaffected siblings. RESULTS: The most common parental responses about the sibling were witnessing a seizure, protectiveness of the child with epilepsy, worry about seizures, belief that seizures cause pain, and pride toward the child with epilepsy. Embarrassment and keeping epilepsy a secret were rare. Parent reports supported that siblings that worried were more likely to have witnessed a seizure, feel sad or angry, think seizures cause pain, and have a parent with anxiety disorder. DISCUSSION: Some siblings of children with epilepsy are at risk for psychosocial problems. Primary and specialty care providers are well positioned to identify and monitor these children through evaluations and referrals as necessary.

Feasibility of self-collection of fecal specimens by randomly sampled women for health-related studies of the gut microbiome.

BACKGROUND: The field of microbiome research is growing rapidly. We developed a method for self-collection of fecal specimens that can be used in population-based studies of the gut microbiome. We conducted a pilot study to test the feasibility of our methods among a random sample of healthy, postmenopausal women who are members of Kaiser Permanente Colorado (KPCO). We aimed to collect questionnaire data, fecal and urine specimens from 60 women, aged 55-69, who recently had a normal screening mammogram. We designed the study such that all questionnaire data and specimens could be collected at home. RESULTS: We mailed an invitation packet, consent form and opt-out postcard to 300 women, then recruited by telephone women who did not opt-out. Verbally consented women were mailed an enrollment package including a risk factor questionnaire, link to an online diet questionnaire, specimen collection kit, and instructions for collecting stool and urine. Specimens were shipped overnight to the biorepository. Of the 300 women mailed an invitation packet, 58 (19%) returned the opt-out postcard. Up to 3 attempts were made to telephone the remaining women, of whom 130 (43%) could not be contacted, 23 (8%) refused, and 12 (4%) were ineligible. Enrollment packages were mailed to 77 women, of whom 59 returned the risk factor questionnaire and specimens. We found no statistically significant differences between enrolled women and those who refused participation or could not be contacted. CONCLUSIONS: We demonstrated that a representative sample of women can be successfully recruited for a gut microbiome study; however, significant personal contact and carefully timed follow-up from the study personnel are required. The methods employed by our study could successfully be applied to analytic studies of a wide range of clinical conditions that have been postulated to be influenced by the gut microbial population.

Sample and data sharing: observations from a central data repository.

OBJECTIVES: From 2003 to 2013, RTI International served as the data repository for the National Institute of Diabetes, Digestive and Kidney Diseases (NIDDK). RTI worked closely with two sample repository partners to build and maintain the Central Repository (CR) that made data and samples available to approved requestors. In this paper, we recap aspects of establishing the mechanism; detail the challenges and limitations of data and sample sharing, and explore the future of resource sharing in light of the evolving environment of research funding. DESIGN AND METHODS: Effective maintenance required the system to be flexible and dynamic while at the same time compliant with established data standards. RESULTS: Our years serving as the CR for NIDDK have yielded a number of observations about the difficulties of running a repository, an operation that is by definition dependent on many outside parties whose degree of expertise and efficiency have a direct impact on repository functioning. CONCLUSION: The bio-banking industry will likely continue to become more globally centralized for studying specific genetic diseases and monitoring the health of our environment. The dynamic relationship between emerging technologies and the infrastructure will be needed to support future research that requires the ability of organizations providing support to remain flexible even while following established standards.

'What's in the NIDDK CDR?'--public query tools for the NIDDK central data repository.

The National Institute of Diabetes and Digestive Disease (NIDDK) Central Data Repository (CDR) is a web-enabled resource available to researchers and the general public. The CDR warehouses clinical data and study documentation from NIDDK funded research, including such landmark studies as The Diabetes Control and Complications Trial (DCCT, 1983-93) and the Epidemiology of Diabetes Interventions and Complications (EDIC, 1994-present) follow-up study which has been ongoing for more than 20 years. The CDR also houses data from over 7 million biospecimens representing 2 million subjects. To help users explore the vast amount of data stored in the NIDDK CDR, we developed a suite of search mechanisms called the public query tools (PQTs). Five individual tools are available to search data from multiple perspectives: study search, basic search, ontology search, variable summary and sample by condition. PQT enables users to search for information across studies. Users can search for data such as number of subjects, types of biospecimens and disease outcome variables without prior knowledge of the individual studies. This suite of tools will increase the use and maximize the value of the NIDDK data and biospecimen repositories as important resources for the research community. Database URL: https://www.niddkrepository.org/niddk/home.do.

The NIDDK Central Repository at 8 years--ambition, revision, use and impact.

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Central Repository makes data and biospecimens from NIDDK-funded research available to the broader scientific community. It thereby facilitates: the testing of new hypotheses without new data or biospecimen collection; pooling data across several studies to increase statistical power; and informative genetic analyses using the Repository's well-curated phenotypic data. This article describes the initial database plan for the Repository and its revision using a simpler model. Among the lessons learned were the trade-offs between the complexity of a database design and the costs in time and money of implementation; the importance of integrating consent documents into the basic design; the crucial need for linkage files that associate biospecimen IDs with the masked subject IDs used in deposited data sets; and the importance of standardized procedures to test the integrity data sets prior to distribution. The Repository is currently tracking 111 ongoing NIDDK-funded studies many of which include genotype data, and it houses over 5 million biospecimens of more than 25 types including serum, plasma, stool, urine, DNA, red blood cells, buffy coat and tissue. Repository resources have supported a range of biochemical, clinical, statistical and genetic research (188 external requests for clinical data and 31 for biospecimens have been approved or are pending). Genetic research has included GWAS, validation studies, development of methods to improve statistical power of GWAS and testing of new statistical methods for genetic research. We anticipate that the future impact of the Repository's resources on biomedical research will be enhanced by (i) cross-listing of Repository biospecimens in additional searchable databases and biobank catalogs; (ii) ongoing deployment of new applications for querying the contents of the Repository; and (iii) increased harmonization of procedures, data collection strategies, questionnaires etc. across both research studies and within the vocabularies used by different repositories.

New incidence, prevalence, and survival of Aicardi syndrome from 408 cases.

We sought to determine the incidence, prevalence, and life expectancy of Aicardi syndrome from 408 cases compiled from multiple international sources. Last known age ranged from less than 1 month to 42 years. The incidence rates per live births for the United States and The Netherlands were 1 per 105 000 and 1 per 93 000, respectively. The prevalence in the United States is greater than 853 cases, and the worldwide estimate is several thousand. Forty-five cases were deceased (age range, 1 month to 33 years), and the risk of death peaked at age 16. The probability of survival at 27 years of age was 0.62 (95% CI, 0.47-0.77). The risk of death by age follows other congenital neurological disorders with a wide range in severity of functional disability. The longer life expectancy found in our study hints at a higher functioning capacity in Aicardi syndrome and may inform counseling to families.