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1.
Epilepsy Behav ; 122: 108197, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34273742

RESUMO

OBJECTIVES: Electronic patient portals (ePortals) can facilitate greater healthcare democratization by providing patients and/or their authorized care partners with secure access to their medical records when and where needed. Such democratization can promote effective healthcare provider-patient partnerships, shared decision-making, and greater patient engagement in managing their health condition. This study examined the usefulness of providing individualized services and care in epilepsy (PiSCES), an epilepsy ePortal, as an enabler of more democratized epilepsy care. METHODS: Seventy-two individuals with epilepsy and 18 care partners were invited to report on their experience of interacting via PiSCES with clinical documents (epilepsy care summary record; epilepsy clinic letters) authored about them by healthcare providers. The OpenNotes reporting tool was adapted to capture participant experience. RESULTS: Twenty-five percent of invited patients and 44% of invited care partners reported on interacting with their epilepsy care summary; 14% of patients and 67% of care partners invited reported on their epilepsy clinic letters. Participant testimonials illustrate the value of PiSCES in: promoting autonomy, aiding memory, developing the knowledgeable patient, and enhancing healthcare partnerships. Ninety-six percent and 100% of respondents, respectively, reported understanding their epilepsy care summary and epilepsy clinic letter; 77% said the summary described their epilepsy history to date; 96% indicated that the letter provided an accurate description of their clinical encounter; 92% and 96%, respectively, valued access to their summary record and clinic letters; 77% of summary record and 73% clinic letter respondents reported learning something about their epilepsy or the healthcare service via PiSCES. Illustrating their potential patient and care partner safety role, 42% respondents identified inaccuracies in their clinical documents which were subsequently resolved by a clinician. SIGNIFICANCE: In the post-digital world highly customized on-demand products and services have come to be expected. Similarly, in epilepsy care, technologies such as PiSCES can enable more personalized, transparent, and engaging services.


Assuntos
Epilepsia , Portais do Paciente , Registros Eletrônicos de Saúde , Eletrônica , Epilepsia/terapia , Pessoal de Saúde , Humanos , Participação do Paciente
2.
BMC Med Ethics ; 22(1): 9, 2021 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-33541335

RESUMO

BACKGROUND: This manuscript presents a framework to guide the identification and assessment of ethical opportunities and challenges associated with electronic patient records (EPR). The framework is intended to support designers, software engineers, health service managers, and end-users to realise a responsible, robust and reliable EPR-enabled healthcare system that delivers safe, quality assured, value conscious care. METHODS: Development of the EPR applied ethics framework was preceded by a scoping review which mapped the literature related to the ethics of EPR technology. The underlying assumption behind the framework presented in this manuscript is that ethical values can inform all stages of the EPR-lifecycle from design, through development, implementation, and practical application. RESULTS: The framework is divided into two parts: context and core functions. The first part 'context' entails clarifying: the purpose(s) within which the EPR exists or will exist; the interested parties and their relationships; and the regulatory, codes of professional conduct and organisational policy frame of reference. Understanding the context is required before addressing the second part of the framework which focuses on EPR 'core functions' of data collection, data access, and digitally-enabled healthcare. CONCLUSIONS: The primary objective of the EPR Applied Ethics Framework is to help identify and create value and benefits rather than to merely prevent risks. It should therefore be used to steer an EPR project to success rather than be seen as a set of inhibitory rules. The framework is adaptable to a wide range of EPR categories and can cater for new and evolving EPR-enabled healthcare priorities. It is therefore an iterative tool that should be revisited as new EPR-related state-of-affairs, capabilities or activities emerge.


Assuntos
Registros Eletrônicos de Saúde , Engenharia , Humanos
3.
Epilepsy Behav ; 115: 107675, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33342712

RESUMO

As part of our ongoing interest in patient- and family-centered care in epilepsy, we began, before the onset of the CoVID-19 pandemic, to evaluate the concerns and preferences of those delivering and receiving care via telemedicine. CoVID-19 arrived and acted as an unexpected experiment in nature, catalyzing telemedicine's widespread implementation across many disciplines of medicine. The arrival of CoVID-19 in Ireland gave us the opportunity to record these perceptions pre- and post-CoVID. Data were extracted from the National Epilepsy Electronic Patient Record (EEPR). Power BI Analytics collated data from two epilepsy centers in Dublin. Analysis of data on reasons for using the telephone support line was conducted. A subset of patients and clinicians who attended virtual encounters over both periods were asked for their perception of telemedicine care through a mixed methods survey. Between 23rd December 2019 and 23rd March 2020 (pre-CoVID era), a total of 1180 patients were seen in 1653 clinical encounters. As part of a telemedicine pilot study, 50 of these encounters were scheduled virtual telephone appointments. Twenty eight surveys were completed by clinicians and 18 by patients during that period. From 24th March 2020 to 24th June 2020, 1164 patients were seen in 1693 encounters of which 729 (63%) patients were seen in 748 scheduled virtual encounters. 118 clinician impressions were captured through an online survey and 75 patients or carers completed a telephone survey during the post-CoVID era. There was no backlog of appointments or loss of care continuity forced by the pandemic. Clinicians expressed strong levels of satisfaction, but some doubted the suitability of new patients to the service or candidates for surgery receiving care via telemedicine. Patients reported positive experiences surrounding telephone appointments comparing them favorably to face-to-face encounters. The availability of a shared EEPR demonstrated no loss of care contact for patients with epilepsy. The survey showed that telemedicine is seen as an effective and satisfactory method of delivering chronic outpatient care.


Assuntos
COVID-19/psicologia , Gerenciamento Clínico , Registros Eletrônicos de Saúde , Epilepsia/psicologia , Relações Médico-Paciente , Telemedicina/métodos , Adulto , Agendamento de Consultas , COVID-19/epidemiologia , COVID-19/prevenção & controle , Cuidadores/psicologia , Epilepsia/epidemiologia , Epilepsia/terapia , Feminino , Humanos , Irlanda/epidemiologia , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados da Assistência ao Paciente , Projetos Piloto , Inquéritos e Questionários
4.
Epilepsy Behav ; 115: 107664, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33334718

RESUMO

BACKGROUND: Coproduced epilepsy care sees people with epilepsy (PwE), their care-proxies, and healthcare providers (HCPs), working together as partners to build strong relationships, improve communication, trust, and share decision-making. Coproduction underpins good quality patient- and family-centered care (PFCC) that is responsive to individual patient needs, preferences, and values. By facilitating information sharing and exchange between partners, electronic patient portals (ePortal) can enable coproduction. This paper explores what HCPs, PwE, and their care-proxies value from their user experience of PiSCES, the Irish epilepsy ePortal. METHODS: A purposeful sample of actors involved in the receipt and delivery of epilepsy care and services were recruited via adult epilepsy centers at St James's and Beaumont Hospitals in Dublin. Interactive codesign sessions, surveys, and focus groups were used to elicit perspectives from PwE, care-proxies, and HCPs to understand their perception of how PiSCES could enhance or inhibit the epilepsy care process. RESULTS: Results illustrate that participants welcome the role PiSCES can play in: empowering PwE/care-proxies, strengthening confidence in the healthcare system; aiding memory; advancing health literacy, motivating PwE to understand their condition better; acting as a passport of care between different clinical settings; and creating a foundation for stronger coproduction partnerships. PiSCES was generally embraced; however, some HCPs expressed plausible concerns about how clinical implementation might impact their work practices. CONCLUSION: "Nothing about me without me" is a core value of the PiSCES initiative, recognizing that people need to be included in the planning of their own treatment and care. Our data show that PwE, their care-proxies, and HCPs value PiSCES potential, particularly in bolstering healthcare partnerships that foster inclusion, confidence, and trust.


Assuntos
Epilepsia , Portais do Paciente , Adulto , Epilepsia/terapia , Grupos Focais , Pessoal de Saúde , Humanos , Pesquisa Qualitativa
6.
BMC Med Ethics ; 21(1): 76, 2020 08 24.
Artigo em Inglês | MEDLINE | ID: mdl-32831076

RESUMO

BACKGROUND: Electronic patient record (EPR) technology is a key enabler for improvements to healthcare service and management. To ensure these improvements and the means to achieve them are socially and ethically desirable, careful consideration of the ethical implications of EPRs is indicated. The purpose of this scoping review was to map the literature related to the ethics of EPR technology. The literature review was conducted to catalogue the prevalent ethical terms, to describe the associated ethical challenges and opportunities, and to identify the actors involved. By doing so, it aimed to support the future development of ethics guidance in the EPR domain. METHODS: To identify journal articles debating the ethics of EPRs, Scopus, Web of Science, and PubMed academic databases were queried and yielded 123 eligible articles. The following inclusion criteria were applied: articles need to be in the English language; present normative arguments and not solely empirical research; include an abstract for software analysis; and discuss EPR technology. RESULTS: The medical specialty, type of information captured and stored in EPRs, their use and functionality varied widely across the included articles. Ethical terms extracted were categorised into clusters 'privacy', 'autonomy', 'risk/benefit', 'human relationships', and 'responsibility'. The literature shows that EPR-related ethical concerns can have both positive and negative implications, and that a wide variety of actors with rights and/or responsibilities regarding the safe and ethical adoption of the technology are involved. CONCLUSIONS: While there is considerable consensus in the literature regarding EPR-related ethical principles, some of the associated challenges and opportunities remain underdiscussed. For example, much of the debate is presented in a manner more in keeping with a traditional model of healthcare and fails to take account of the multidimensional ensemble of factors at play in the EPR era and the consequent need to redefine/modify ethical norms to align with a digitally-enabled health service. Similarly, the academic discussion focuses predominantly on bioethical values. However, approaches from digital ethics may also be helpful to identify and deliberate about current and emerging EPR-related ethical concerns.


Assuntos
Registros Eletrônicos de Saúde , Privacidade , Humanos
7.
Epilepsia ; 61(9): 1894-1905, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32668026

RESUMO

OBJECTIVES: The current coronavirus disease 2019 (COVID-19) pandemic stresses an urgency to accelerate much-needed health service reform. Rapid and courageous changes being made to address the immediate impact of the pandemic are demonstrating that the means and technology to enable new models of health care exist. For example, innovations such as electronic patient portals (ePortal) can facilitate (a) radical reform of outpatient care; (b) cost containment in the economically constrained aftermath of the pandemic; (c) environmental sustainability by reduction of unnecessary journeys/transport. Herein, the development of Providing Individualised Services and Care in Epilepsy (PiSCES), an ePortal to the Irish National Epilepsy Electronic Patient Record, is demonstrated. This project, which pre-dates the COVID-19 crisis, aims to facilitate better patient- and family-centered epilepsy care. METHODS: A combination of ethnographic research, document analysis, and joint application design sessions was used to elicit PiSCES requirements. From these, a specification of desired modules of functionality was established and guided the software development. RESULTS: PiSCES functional features include "My Epilepsy Care Summary," "My Epilepsy Care Goals," "My Epilepsy Clinic Letters," "Help Us Measure Your Progress," "Prepare For Your Clinic Visit," "Information for Your Healthcare Provider." The system provides people with epilepsy access to, and engages them as co-authors of, their own medical record. It can promote improved patient-clinician partnerships and facilitate patient self-management. SIGNIFICANCE: In the aftermath of COVID-19, it is highly unlikely that the healthcare sector will return to a "business as usual" way of delivering services. The pandemic is expected to accelerate adoption of innovations like PiSCES. It is therefore a catalyst for change that will deliver care that is more responsive to individual patient needs and preferences.


Assuntos
COVID-19 , Epilepsia , Portais do Paciente , Telemedicina/métodos , Humanos , SARS-CoV-2
8.
Eur J Hum Genet ; 28(8): 1066-1077, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32238909

RESUMO

Next generation sequencing provides an important opportunity for improved diagnosis in epilepsy. To date, the majority of diagnostic genetic testing is conducted in the paediatric arena, while the utility of such testing is less well understood in adults with epilepsy. We conducted whole exome sequencing (WES) and copy number variant analyses in an Irish cohort of 101 people with epilepsy and co-morbid intellectual disability to compare the diagnostic yield of genomic testing between adult and paediatric patients. Variant interpretation followed American College of Medical Genetics and Genomics (ACMG) guidelines. We demonstrate that WES, in combination with array-comparative genomic hybridisation, provides a diagnostic rate of 27% in unrelated adult epilepsy patients and 42% in unrelated paediatric patients. We observe a 2.7% rate of ACMG-defined incidental findings. Our findings indicate that WES has similar utility in both adult and paediatric cohorts and is appropriate for diagnostic testing in both epilepsy patient groups.


Assuntos
Epilepsia/genética , Testes Genéticos/métodos , Deficiência Intelectual/genética , Adolescente , Adulto , Criança , Pré-Escolar , Comorbidade , Hibridização Genômica Comparativa/métodos , Hibridização Genômica Comparativa/normas , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Feminino , Testes Genéticos/normas , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Masculino , Pessoa de Meia-Idade , Mutação , Sensibilidade e Especificidade , Sequenciamento do Exoma/métodos , Sequenciamento do Exoma/normas
9.
Epilepsy Behav ; 104(Pt A): 106896, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31986441

RESUMO

Although 70% of people with epilepsy (PWE) achieve seizure freedom following an appropriate antiepileptic drug (AED) regime, evidence suggests that adherence to AEDs by PWE is suboptimal. Nonadherence to AEDs is associated with increased morbidity, mortality, emergency department visits, and hospitalizations, with reduced adherence also correlating to a lower quality of life, decreased productivity, and loss of employment. Furthermore, research indicates that medication errors which are widespread in chronic disease are less well studied in epilepsy but are likely also to contribute to avoidable disease morbidity and mortality. The goals of this project were to determine rates of medication adherence by self-reported questionnaire and its links to perceived medication error in a cohort of PWE attending a general epilepsy outpatient clinic. Following a plan-do-study-act cycle, it was found that the most appropriate methodology for conducting was in the form of a bespoke 9-item self-administered questionnaire. One hundred eighty-six PWE completed a nine-question questionnaire asking patients about their own medication adherence habits and their perception that they were previously exposed to medication error. This study found that 41% of respondents reported suboptimal adherence to AED therapy, while 28.5% of respondents self-reported that they unintentionally do not take their AED medication on an occasional, regular, or frequent basis. A 5.9% of respondents self-reported that they intentionally do not take their medication as prescribed. A 6% of respondents self-reported that they are both unintentionally and intentionally nonadherent to their AED therapy. No significant associations were demonstrated between age, sex, perceived effectiveness of medication, feelings of stigma/embarrassment, adverse effects or additional neurological comorbidities, and unintentional or intentional nonadherence. A 28.5% of respondents to the questionnaire reported that they perceived themselves to have been subjected to medication error. Prescribing errors were the most common form of perceived medication error, followed by dispensing errors, then administration errors. Significant associations were found between ineffective medication and feelings of stigma or embarrassment about epilepsy with perceived prescribing errors. Intentional nonadherence to medication was significantly associated with perceived dispensing errors.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Epilepsia/psicologia , Adesão à Medicação/psicologia , Erros de Medicação/psicologia , Autorrelato/normas , Adulto , Estudos de Coortes , Feminino , Humanos , Masculino , Erros de Medicação/efeitos adversos , Pessoa de Meia-Idade , Qualidade de Vida/psicologia , Estigma Social , Inquéritos e Questionários
11.
J Interprof Care ; 34(4): 500-508, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31851541

RESUMO

Models of care developed to improve the lives of people with chronic diseases highlight integrated care as essential to meeting their needs and achieving person (patient)-centered care (PCC). Nevertheless, barriers to collaborative practice and siloed work environments persist. To set in motion some groundwork for intersectoral collaboration this study brought two expert groups of epilepsy care practitioners together to engage in participatory action research (PAR). The expert practitioner groups were hospital-based epilepsy specialist nurses (ESNs) and community-based resource officers (CROs). The PAR highlighted, that while the participants share a mutual interest in caring for people with epilepsy, underdeveloped CRO-ESN relationships, arising from unconscious bias and ambiguity can result in missed opportunities for optimal care coordination with consequent potential for unnecessary replication and waste of finite resources. However, through dialogue and critical self-reflection, a growing emotional connection between the disciplines evolved over the course of the PAR. This allowed for buds of collaboration to develop with CROs and ESNs working together to tackle some of the key barriers to their collaboration.


Assuntos
Epilepsia/terapia , Colaboração Intersetorial , Recursos Humanos de Enfermagem Hospitalar/organização & administração , Assistência Centrada no Paciente/organização & administração , Serviço Social/organização & administração , Adulto , Comunicação , Continuidade da Assistência ao Paciente , Feminino , Pesquisa sobre Serviços de Saúde , Humanos , Relações Interprofissionais , Irlanda , Masculino , Pessoa de Meia-Idade
12.
Epilepsy Behav ; 102: 106668, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31739100

RESUMO

The National Clinical Programme for Epilepsy (NCPE) in Ireland aims to deliver a holistic model of integrated person-centered care (PCC) that addresses the full spectrum of biomedical and psychosocial needs of people with epilepsy (PwE). However, like all strategic plans, the model encompasses an inherent set of assumptions about the readiness of the environment to implement and sustain the actions required to realize its goals. In this study, through the lens of PwE, the Irish epilepsy care setting was explored to understand its capacity to adopt a new paradigm of integrated PCC. Focus groups and semi-structured one-to-one interviews were employed to capture the qualitative experiences of a sample of Irish PwE (n = 27) in the context of the care that they receive. Participants were from different regions of the country and were aged between 18 and 55 years with 1 to 42 years since diagnosis (YSD). Highlighting a gap between policy intent and action on the ground, findings suggest that patient readiness to adopt a new model of care cannot be assumed. Expectations, preferences, behaviors, and values of PwE may sustain the more traditional constructions of healthcare delivery rather than the integrated PCC goals of reform. These culturally constituted perceptions illustrate that PwE do not instinctively appreciate the goals of healthcare reform nor the different behavior expected from them within a reformed healthcare system. Recalibrating deep-rooted patient views is necessary to accomplish the aspirations of integrated PCC. Patient engagement emphasizing the meaningful role that they can play in shaping their healthcare services is vital.


Assuntos
Epilepsia/psicologia , Epilepsia/terapia , Participação do Paciente/psicologia , Assistência Centrada no Paciente/normas , Pesquisa Qualitativa , Adolescente , Adulto , Epilepsia/epidemiologia , Feminino , Grupos Focais , Humanos , Irlanda/epidemiologia , Pessoa de Meia-Idade , Participação do Paciente/métodos , Assistência Centrada no Paciente/métodos , Autocuidado/métodos , Autocuidado/psicologia , Autocuidado/normas , Adulto Jovem
13.
Epilepsia ; 60(8): 1670-1677, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31297800

RESUMO

OBJECTIVES: Both clinical genomics and e-Health technology are changing the way medicine is being practiced. Although the basic clinical methodology of good medical care will remain unchanged, the combined power of genomics and electronic health records has the capability of enhancing, and in some cases transforming, the practice of medicine. This is particularly true in the care of patients with complex long-term medical conditions such as chronic refractory epilepsy, especially in those with related complex comorbidities including intellectual disability and psychiatric disease. METHODS: Herein we outline the development and integration of an epilepsy genomics module into a preexisting epilepsy electronic patient record (EPR) system. RESULTS: We describe how this EPR infrastructure is used to facilitate discussion at multidisciplinary clinical meetings around molecular diagnosis and resulting changes in management. SIGNIFICANCE: This work illustrates the role of eHealth technology in embedding genomics into the clinical pathway.


Assuntos
Registros Eletrônicos de Saúde , Epilepsia/genética , Genômica , Epilepsia/terapia , Genômica/métodos , Humanos , Comunicação Interdisciplinar , Linhagem , Fenótipo , Fotografação
14.
Epilepsy Behav ; 94: 87-92, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30897535

RESUMO

In line with healthcare reform across the world, the National Clinical Programme for Epilepsy (NCPE) in Ireland describes a model that aims to achieve holistic integrated person (patient)-centered care (PCC). While generally welcomed by stakeholders, the steps required to realize the NCPE ambition and the preparedness of those involved to make the journey are not clear. This study explored the perceptions of healthcare providers in the Irish epilepsy care ecosystem to understand their level of readiness to realize the benefits of an integrated PCC model. Ethnographic fieldwork including observations of different clinical settings across three regions in Ireland and one-to-one interviews with consultant epileptologists (n = 3), epilepsy specialist nurses (n = 5), general practitioners (n = 4), and senior healthcare managers (n = 3) were conducted. While there is a person-centered ambiance and a disposition toward advancing integrated PCC, there are limits to the readiness of the epilepsy care environment to fully meet the aspirations of healthcare reform. These are the following: underdeveloped healthcare partnerships;, poor care coordination;, unintended consequences of innovation;, and tension between pace and productivity. In the journey from policy to practice, the following multiple tensions collide: policy aims to improve services for all patients while simultaneously individualizing care; demands for productivity limit the time and space required to engage in incremental and iterative improvement initiatives. Understanding these tensions is an essential first step on the pathway to integrated PCC implementation.


Assuntos
Atenção à Saúde/organização & administração , Epilepsia/terapia , Pessoal de Saúde , Assistência Centrada no Paciente/organização & administração , Reforma dos Serviços de Saúde , Humanos , Irlanda
15.
Neurology ; 92(4): e351-e358, 2019 01 22.
Artigo em Inglês | MEDLINE | ID: mdl-30587513

RESUMO

OBJECTIVE: To examine cerebral cortex thickness in asymptomatic first-degree relatives of patients with mesial temporal lobe epilepsy (MTLE). METHODS: We investigated 127 asymptomatic first-degree relatives of patients with MTLE due to hippocampal sclerosis (HS) (mean age ± SD = 39.4 ± 13 years) and 203 healthy control individuals (mean age ± SD = 36.0 ± 11 years). Participants underwent a comprehensive clinical evaluation and structural brain MRI at 3 study sites. Images were processed simultaneously at each site using a surface-based morphometry method to quantify global brain measures, hippocampal volumes, and cerebral cortical thickness. Differences in brain measures between relatives of patients and controls were examined using generalized models, while controlling for relevant covariates, including age and sex. RESULTS: None of the asymptomatic first-degree relatives of MTLE + HS patients showed evidence of HS on qualitative image assessments. Compared to the healthy controls, the asymptomatic relatives of patients displayed no significant differences in intracranial volume, average hemispheric surface area, or hippocampal volume. Similarly, no significant cerebral cortical thinning was identified in the relatives of patients. This was consistent across the 3 cohorts. CONCLUSION: Lack of cortical thickness changes in the asymptomatic relatives of patients indicates that the previously characterized MTLE + HS-related cortical thinning is not heritable, and is likely driven by disease-related factors. This finding therefore argues for early and aggressive intervention in patients with medically intractable epilepsy.


Assuntos
Córtex Cerebral/diagnóstico por imagem , Epilepsia do Lobo Temporal/patologia , Família , Adulto , Estudos de Coortes , Epilepsia do Lobo Temporal/etiologia , Feminino , Hipocampo/diagnóstico por imagem , Hipocampo/patologia , Humanos , Imageamento Tridimensional , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Esclerose/complicações , Estatísticas não Paramétricas
16.
Biomed Hub ; 2(Suppl 1): 137-145, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-31988944

RESUMO

Epilepsy is a chronic neurological condition that affects approximately 50 million people worldwide. Current treatments are inadequate and around a third of patients continue to experience uncontrolled seizures. The genetic architecture of many of the epilepsies makes them amenable to next-generation sequencing technologies, enabling a molecular diagnosis in an increasing proportion of patients. As a result, rare but remarkable examples of precision therapeutics in epilepsy are emerging. Coordinated research efforts are required to increase the diagnostic yield of sequencing and translate diagnosis to improved prognosis. This review explores the potential of eHealth technologies in facilitating and accelerating precision therapeutics in epilepsy. We describe the state of the art in precision diagnostics and therapeutics in epilepsy and identify opportunities for eHealth to accelerate the realisation of precision therapeutics via patient registries, research-enabled electronic health records, and connected health solutions.

17.
Cereb Cortex ; 26(3): 1234-41, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25576532

RESUMO

Temporal cortex abnormalities are common in patients with mesial temporal lobe epilepsy due to hippocampal sclerosis (MTLE+HS) and believed to be relevant to the underlying mechanisms. In the present study, we set out to determine the familiarity of temporal cortex morphologic alterations in a cohort of MTLE+HS patients and their asymptomatic siblings. A surface-based morphometry (SBM) method was applied to process MRI data acquired from 140 individuals (50 patients with unilateral MTLE+HS, 50 asymptomatic siblings of patients, and 40 healthy controls). Using a region-of-interest approach, alterations in temporal cortex morphology were determined in patients and their asymptomatic siblings by comparing with the controls. Alterations in temporal cortex morphology were identified in MTLE+HS patients ipsilaterally within the anterio-medial regions, including the entorhinal cortex, parahippocampal gyrus, and temporal pole. Subtle but similar pattern of morphology changes with a medium effect size were also noted in the asymptomatic siblings. These localized alterations were related to volume loss that appeared driven by shared contractions in cerebral cortex surface area. These findings indicate that temporal cortex morphologic alterations are common to patients and their asymptomatic siblings and suggest that such localized traits are possibly heritable.


Assuntos
Epilepsia do Lobo Temporal/patologia , Lobo Temporal/patologia , Adulto , Feminino , Predisposição Genética para Doença , Humanos , Imageamento por Ressonância Magnética , Masculino , Tamanho do Órgão , Irmãos
18.
Epilepsia ; 54(9): e138-41, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23944956

RESUMO

The goal of this study was to characterize cerebral cortex thickness patterns in juvenile myoclonic epilepsy (JME). Surface-based morphometry (SBM) was applied to process brain magnetic resonance images acquired from 24 patients with JME and 40 healthy controls and quantify cerebral cortex thickness. Differences in cortical thickness between patients and controls were determined using generalized linear model (covariates: age and gender). In patients with JME, thickness increase was detected bilaterally within localized regions in the orbitofrontal and mesial frontal cortices. Such thickness patterns coexisted with significant bilateral reduction in thalamic volume. These findings confirm that the underlying mechanisms in JME are related to aberrant corticothalamic structure and indicate that frontal cortex abnormalities are possibly linked to regional increase in cerebral cortical thickness.


Assuntos
Mapeamento Encefálico , Córtex Cerebral/patologia , Lobo Frontal/patologia , Epilepsia Mioclônica Juvenil/patologia , Tálamo/patologia , Adulto , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Masculino
19.
PLoS One ; 8(4): e61880, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23626743

RESUMO

OBJECTIVES: We aimed to 1) determine if subcortical volume deficits are common to mesial temporal lobe epilepsy (MTLE) patients and their unaffected siblings 2) assess the suitability of subcortical volumetric traits as endophenotypes for MTLE. METHODS: MRI-based volume measurements of the hippocampus, amygdala, thalamus, caudate, putamen and pallidium were generated using an automated brain reconstruction method (FreeSurfer) for 101 unrelated 'sporadic' MTLE patients [70 with hippocampal sclerosis (MTLE+HS), 31 with MRI-negative TLE], 83 unaffected full siblings of patients and 86 healthy control subjects. Changes in the volume of subcortical structures in patients and their unaffected siblings were determined by comparison with healthy controls. Narrow sense heritability was estimated ipsilateral and contralateral to the side of seizure activity. RESULTS: MTLE+HS patients displayed significant volume deficits across the hippocampus, amygdala and thalamus ipsilaterally. In addition, volume loss was detected in the putamen bilaterally. These volume deficits were not present in the unaffected siblings of MTLE+HS patients. Ipsilaterally, the heritability estimates were dramatically reduced for the volume of the hippocampus, thalamus and putamen but remained in the expected range for the amygdala. MRI-negative TLE patients and their unaffected siblings showed no significant volume changes across the same structures and heritability estimates were comparable with calculations from a healthy population. CONCLUSIONS: The findings indicate that volume deficits for many subcortical structures in 'sporadic' MTLE+HS are not heritable and likely related to acquired factors. Therefore, they do not represent suitable endophenotypes for MTLE+HS. The findings also support the view that, at a neuroanatomical level, MTLE+HS and MRI-negative TLE represent two distinct forms of MTLE.


Assuntos
Tonsila do Cerebelo/patologia , Núcleo Caudado/patologia , Epilepsia do Lobo Temporal/congênito , Hipocampo/patologia , Putamen/patologia , Tálamo/patologia , Adulto , Mapeamento Encefálico , Estudos de Casos e Controles , Epilepsia do Lobo Temporal/genética , Epilepsia do Lobo Temporal/patologia , Feminino , Neuroimagem Funcional , Humanos , Padrões de Herança , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Fenótipo , Irmãos
20.
Seizure ; 22(8): 604-10, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23537634

RESUMO

PURPOSE: The American Academy of Neurology (AAN) quality indicators for epilepsy are designed to monitor quality, identify gaps, and ultimately drive improvements in clinical care. Appreciation of electronic patient records (EPR) to support such performance management is growing. This study aimed to demonstrate the use of an epilepsy-specific EPR in applying the AAN measures to objectively monitor clinical performance. METHOD: A sample of out-patient clinics at Beaumont Hospital, Dublin was benchmarked against 4 of the AAN quality indicators. RESULTS: 88% (142/160) of clinical encounters met the requirement to explicitly document seizure type and seizure frequency at each visit; aetiology or epilepsy syndrome was documented/updated for 58% (93/160); evidence of counselling about antiepileptic drug side effects was present in 34% (54/160) of records; counselling for women of childbearing potential was documented in 33% (18/57) of relevant records. CONCLUSION: The EPR makes performance monitoring efficient and objective. Results suggest either failure to carryout recommended clinical tasks or poor documentation. Whichever is the case, a baseline is provided against which improvement goals can be set.


Assuntos
Epilepsia/terapia , Neurologia/normas , Relações Médico-Paciente , Qualidade da Assistência à Saúde , Adulto , Anticonvulsivantes/uso terapêutico , Registros Eletrônicos de Saúde , Epilepsia/tratamento farmacológico , Feminino , Humanos , Irlanda , Pacientes Ambulatoriais , Garantia da Qualidade dos Cuidados de Saúde
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