Democratizing epilepsy care: Utility and usability of an electronic patient portal

Fitzsimons, Mary; Power, Kevin; McCrea, Zita; Kiersey, Rachel; White, Máire; Dunleavy, Brendan; O’Donoghue, Seán I.; Lambert, Veronica; Delanty, Norman; Doherty, Colin

doi:10.1016/j.yebeh.2021.108197

Cited by 5 publications

(3 citation statements)

References 32 publications

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“…Digital and connected health research are among leading proponents of PPI. Learning from the mistakes of connected health solutions that no-one wanted, PPI input has produced interactive platforms co-developed with patients that are used in everyday lives and facilitate patient reported outcomes and consultation interactions (Fitzsimons et al, 2021). Such innovations in telemedicine had an impact on patient care during the COVID pandemic and is here to stay (Banks et al, 2021).…”

Section: Background To the Eventchanging The Landscape Of European Ep...mentioning

confidence: 99%

Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER

et al. 2023

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Section: Background To the Eventchanging The Landscape Of European Ep...mentioning

confidence: 99%

Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER

et al. 2023

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“…They are used in >85% of hospitals in the United States and are similarly commonplace in the UK, Ireland, Australia, and many other countries. [7][8][9][10][11][12] While many EMR applications are primarily built for operational and billing purposes, there is an increasing use of secondary EMR data for research and quality improvement.…”

Section: Introductionmentioning

confidence: 99%

“…For example, learning health system frameworks such as Epilepsy Learning Health System (ELHS) championed by the Epilepsy Foundation, 13 the Pediatric Epilepsy Learning Health System (PELHS), 14 and the National Clinical Programme for Epilepsy (NCPE) 10,15,16 in Ireland employ systematically ascertained clinical data to improve ongoing care. We previously demonstrated that many genetic epilepsies could have specific phenotypic signatures in the EMR that may allow for improved prognostication and understanding of treatment responses.…”

Section: Introductionmentioning

confidence: 99%

Clinical signatures of genetic epilepsy precede diagnosis in electronic medical records of 32,000 individuals

Galer

Parthasarathy

Xian

et al. 2022

Preprint

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An early genetic diagnosis can guide the time-sensitive treatment and care of individuals with genetic epilepsies. However, identification of a genetic cause often occurs long after onset of these disorders. Here, we aimed to identify early clinical features suggestive of genetic diagnoses in individuals with epilepsy by systematic large-scale analysis of clinical information from full-text patient notes in the electronic medical records (EMR). From the EMR of 32,112 individuals with childhood epilepsy, we retrieved 4,572,783 clinical notes spanning 203,369 total patient-years. A subcohort of 1,925 individuals had a known or presumed genetic epilepsy with 738 genetic diagnoses spanning 271 genes. We employed a customized natural language processing (NLP) pipeline to extract 89 million time-stamped standardized clinical annotations from free text of the retrieved clinical notes. Our analyses identified 47,641 clinical associations with a genetic cause at distinct ages prior to diagnosis. Notable among these associations were: SCN1A with status epilepticus between 9 and 12 months of age (P<0.0001, 95% CI=8.10-133); STXBP1 with muscular hypotonia between 6 and 9 months (P=3.4x10-4, 95% CI=3.08-102); SCN2A with autism between 1.5 and 1.75 years (P<0.0001, 95% CI=11.1-Inf); DEPDC5 with focal-onset seizure between 5.75 and 6 years (P<0.0001, 95% CI=12.8-Inf); and IQSEC2 with myoclonic seizure between 2.75 and 3 years (P=2.5x10 4, 95% CI=11.3-1.15x104). We also identified associations between clinical terms and gene groups. Variants in ion channel gating mechanisms were associated with myoclonus between 3 and 6 months of age (P<0.0001, 95% CI=5.23-24.2), and variants in calcium channel genes were associated with neurodevelopmental delay between 1.75 and 2 years (P<0.0001, 95% CI=4.8-Inf). Cumulative longitudinal analysis revealed further associations, including KCNT1 with migrating focal seizures from at 0 to 1.75 years (P<0.0001, 95% CI=96.8-4.50x1015). A neurodevelopmental abnormality presenting between 6 and 9 months of age was strongly associated with an individual having any genetic diagnosis (P<0.0001, 95% CI=3.55-7.42). The earliest features associated with genetic diagnosis occurred a median of 3.6 years prior to the median age of diagnosis. Latency to diagnosis was greater in older individuals (P<0.0001) and those who initially underwent less comprehensive genetic testing (P=5.5x10-3, 95% CI=1.23-3.35). In summary, we identified key clinical features that precede genetic diagnosis, leveraging EMR data at scale from a large cohort of individuals with genetic epilepsies. Our findings demonstrate that automated EMR analysis may assist clinical decision making, leading to earlier diagnosis and more precise prognostication and treatment of genetic epilepsies in the precision medicine era.

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Prototyping and testing an accessible e-health patient portal designed to include patients with/without vision or hearing impairments

Farhan

Razmak

2023

Health Technol.

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Democratizing epilepsy care: Utility and usability of an electronic patient portal

Cited by 5 publications

References 32 publications

Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER

Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER

Clinical signatures of genetic epilepsy precede diagnosis in electronic medical records of 32,000 individuals

Prototyping and testing an accessible e-health patient portal designed to include patients with/without vision or hearing impairments

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