Rare, epilepsy-related disorder including intellectual disability – A scoping review of caregivers’ identified information needs

Tschamper, Merete Kristin; Systad, Silje

doi:10.1177/17446295211002348

Cited by 4 publications

(4 citation statements)

References 44 publications

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“…Apart for implications regarding treatment and prognosis, an exact genetic diagnosis also has impact on aspects like dialogue with health care- and social services, limiting economical and psychological costs associated with ongoing diagnostic work-up, and granting access to national and international support groups for patients and care-givers ( 28 , 29 ).…”

Section: Discussionmentioning

confidence: 99%

Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway

Stenshorne

Syvertsen²,

Ramm-Pettersen³

et al. 2022

Front. Pediatr.

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IntroductionDevelopmental and epileptic encephalopathies (DEE) is a group of epilepsies where the epileptic activity, seizures and the underlying neurobiology contributes to cognitive and behavioral impairments. Uncovering the causes of DEE is important in order to develop guidelines for treatment and follow-up. The aim of the present study was to describe the clinical picture and to identify genetic causes in a patient cohort with DEE without known etiology, from a Norwegian regional hospital.MethodsSystematic searches of medical records were performed at Drammen Hospital, Vestre Viken Health Trust, to identify patients with epilepsy in the period 1999–2018. Medical records were reviewed to identify patients with DEE of unknown cause. In 2018, patients were also recruited consecutively from treating physicians. All patients underwent thorough clinical evaluation and updated genetic diagnostic analyses.ResultsFifty-five of 2,225 patients with epilepsy had DEE of unknown etiology. Disease-causing genetic variants were found in 15/33 (45%) included patients. Three had potentially treatable metabolic disorders (SLC2A1, COQ4 and SLC6A8). Developmental comorbidity was higher in the group with a genetic diagnosis, compared to those who remained undiagnosed. Five novel variants in known genes were found, and the patient phenotypes are described.ConclusionThe results from this study illustrate the importance of performing updated genetic investigations and/or analyses in patients with DEE of unknown etiology. A genetic cause was identified in 45% of the patients, and three of these patients had potentially treatable conditions where available targeted therapy may improve patient outcome.

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Section: Discussionmentioning

confidence: 99%

Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway

Stenshorne

Syvertsen²,

Ramm-Pettersen³

et al. 2022

Front. Pediatr.

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“…Patient education, empowerment and inclusion into common decision-making is also lacking. 18 , 50 In some cases developed informational materials do not meet patients’ and caregivers’ needs in terms of content and form (eg, preferences of web-based information versus written). 51 Importantly, patients’ and families’ needs change along the clinical path of the disease, therefore, they have to be assessed repeatedly and addressed accordingly.…”

Section: Discussionmentioning

confidence: 99%

“…These facts associated with difficulties in decision-making demand a close communication with professionals which is sometimes felt by patients as very difficult. 17 , 49 , 50 Finally, care organization and quality of services is highly unequal across and sometimes within countries. 36 , 53 …”

Section: Discussionmentioning

confidence: 99%

“…In some cases, the patient first goes to the nearest hospital; in such cases, it is necessary to ensure proper communication between healthcare providers and transfer of samples or patients to highly-specialized institutions when required. 36 , 50 Widespread availability of evidence-based emergency protocols is highly important; through international collaboration involving MetabERN, generic emergency protocols for patients with fasting intolerance in eight languages and an on-line tool for generating protocols for individual patients were developed ( https://www.emergencyprotocol.net/ ). 59 …”

Section: Discussionmentioning

confidence: 99%

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Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

Tumienė¹,

Riera²,

Grikinienė³

et al. 2022

JMDH

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More than 650 inherited metabolic diseases may present with epilepsy or seizures. These diseases are often multisystem, life-long and induce complex needs of patients and families. Multidisciplinary care involves all stages of disease management: diagnostics, specific or symptomatic, acute and chronic treatments, and integrated care that takes into account not only medical, but also manifold psychosocial, educational, vocational and other needs of patients and their caregivers. Care coordination is indispensable to ensure smooth transitions of care across life and disease stages, including management of emergencies, transition from pediatric to adult services and palliative care. Care pathways are highly diverse and have to find the right balance between highly specialized and locally provided services. While multidisciplinary teams consist of many professionals, a named supervising physician in a highly specialized healthcare setting and a care coordinator are highly important. As the greatest burden of care always falls onto the shoulders of patients and/or families, patient empowerment should be a part of every care pathway and include provision of required information, involvement into common decision-making, patient’s and family’s education, support for self-management, liaison with peer support groups and emotional/ psychological support. Due to the rarity and complexity of these diseases, sufficient expertise may not be available in a national healthcare system and cross-border services (virtual or physical) in the recently developed European Reference Networks should be ensured through the proper organization of referral systems in each EU and EEA country. Finally, digital technologies are particularly important in the provision of services for patients with rare diseases and can significantly increase the availability of highly specialized services and expertise.

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A call for better information about epilepsy: The next of kin perspective

Rusten,

Nakken,

Lossius

et al. 2024

Seizure: European Journal of Epilepsy

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Rare, epilepsy-related disorder including intellectual disability – A scoping review of caregivers’ identified information needs

Cited by 4 publications

References 44 publications

Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway

Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

A call for better information about epilepsy: The next of kin perspective

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