Dataset Information

Under representation of people with epilepsy and intellectual disability in research.

ABSTRACT:

Purpose

One quarter of people with epilepsy have an intellectual disability (ID) and one fifth of people with an ID have epilepsy. Both conditions are associated with higher levels of morbidity, stigma and premature mortality. There have been calls for action to promote more research in this group. We examined if this group are represented adequately in current research.

Methods

The proportion of research output in epilepsy conferences and publications relevant to ID and the proportion in ID conferences and publications on epilepsy for 2015-2016 were identified. As the percentage of children in the population with epilepsy is 17%, research output of this group was compared with the ID group. Recognised material was classified based on whether it applied to general epilepsy/ID research, children with epilepsy or people with epilepsy and ID. Data was analysed to determine the proportion of presented research specifically identifying people with epilepsy and ID.

Results

Fewer than 2% of presentations at epilepsy conferences specifically related to the ID and epilepsy group compared to 15% relating to children with epilepsy. Similarly only 1.4% of the research presented at major ID conferences related to those with people with epilepsy and ID. About 5% of published research in the field of epilepsy related to those with ID as compared with 24% for children with epilepsy. Twelve percent of published research in ID specifically identified epilepsy.

Conclusion

Publications and conference presentations, on the population with epilepsy and comorbid ID is under-represented. Increased research in this area might assist in improving the quality of care for this relatively neglected group.

SUBMITTER: Shankar R

PROVIDER: S-EPMC6013187 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Publications

Under representation of people with epilepsy and intellectual disability in research.

Shankar Rohit R Rowe Charles C Van Hoorn Alje A Henley William W Laugharne Richard R Cox David D Pande Raj R Roy Ashok A Sander Josemir W JW

PloS one 20180621 6

<h4>Purpose</h4>One quarter of people with epilepsy have an intellectual disability (ID) and one fifth of people with an ID have epilepsy. Both conditions are associated with higher levels of morbidity, stigma and premature mortality. There have been calls for action to promote more research in this group. We examined if this group are represented adequately in current research.<h4>Methods</h4>The proportion of research output in epilepsy conferences and publications relevant to ID and the propo ...[more]

PMID: 29927966

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Project description:BackgroundDespite the high prevalence of epilepsy and multiple barriers to care in people with intellectual disability, the risk of returning to hospital after an admission for epilepsy is largely unknown. In this study, we sought to quantify and compare readmission and emergency department (ED) presentations after hospitalisation for epilepsy in people with and without intellectual disability.Methods and findingsUsing linked administrative datasets, we conducted a retrospective cohort study of people aged 5-64 years with an acute hospitalisation for epilepsy from 2005-2014 in New South Wales, Australia. Acute readmission and ED presentation rates within 30, 90, and 365 days of the index hospitalisation were estimated and compared between people with and without intellectual disability using modified Poisson regression. Of 13537 individuals with an index hospitalisation, 712 children and 1862 adults had intellectual disability. Readmission and ED presentation after the index hospitalisation were common in people with intellectual disability. Within 30 days, 11% of children and 15.6% of adults had an all-cause readmission and 18% of children and 23.5% of adults had an ED presentation. Over 60% of both children and adults presented to an ED within a year. Neurological, respiratory, and infectious conditions were overrepresented reasons for readmission in people with intellectual disability. Age-adjusted relative risks (RRs) within each period showed a higher risk of readmission and ED presentation in children and adults with intellectual disability than without. Most RRs remained statistically significant after controlling for covariates. The largest adjusted RRs were observed for readmission for epilepsy (RR 1.70, 95% CI: 1.42 to 2.04) and non-epilepsy related conditions (RR 1.73, 95%: CI 1.43 to 2.10) in children. Study limitations include lack of clinical data.ConclusionsIncreased risk of returning to acute care after epilepsy hospitalisation suggests there is a need to improve epilepsy care for people with intellectual disability. We recommend research into strategies to improve management of both seizures and comorbidity.

Project description:BackgroundEpilepsy is genetically complex but common brain disorder of the world affecting millions of people with almost of all age groups. Novel Copy number variations (CNVs) are considered as important reason for the numerous neurodevelopmental disorders along with intellectual disability and epilepsy. DNA array based studies contribute to explain a more severe clinical presentation of the disease but interoperation of many detected CNVs are still challenging.ResultsIn order to study novel CNVs with epilepsy related genes in Saudi family with six affected and two normal individuals with several forms of epileptic seizures, intellectual disability (ID), and minor dysmorphism, we performed the high density whole genome Agilent sure print G3 Hmn CGH 2x 400 K array-CGH chips analysis. Our results showed de novo deletions, duplications and deletion plus duplication on differential chromosomal regions in the affected individuals that were not shown in the normal fathe and normal kids by using Agilent CytoGenomics 3.0.6.6 softwear. Copy number gain were observed in the chromosome 1, 16 and 22 with LCE3C, HPR, GSTT2, GSTTP2, DDT and DDTL genes respectively whereas the deletions observed in the chromosomal regions 8p23-p21 (4303127-4337759) and the potential gene in this region is CSMD1 (OMIM: 612279). Moreover, the array CGH results deletions and duplication were also validated by using primer design of deleted regions utilizing the flanked SNPs using simple PCR and also by using quantitative real time PCR.ConclusionsWe found some of the de novo deletions and duplication in our study in Saudi family with intellectual disability and epilepsy. Our results suggest that array-CGH should be used as a first line of genetic test for epilepsy except there is a strong indication for a monogenic syndrome. The advanced high through put array-CGH technique used in this study aim to collect the data base and to identify new mechanisms describing epileptic disorder, may help to improve the clinical management of individual cases in decreasing the burden of epilepsy in Saudi Arabia.

Dataset Information

Under representation of people with epilepsy and intellectual disability in research.

Purpose

Methods

Results

Conclusion

Publications

Under representation of people with epilepsy and intellectual disability in research.

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