Impact of developmental and epileptic encephalopathies on caregivers: A literature review

Abstract

Objectives: Developmental and epileptic encephalopathies (DEEs) are rare neurodevelopmental disorders characterized by early-onset seizures and numerous comorbidities. Due to the complex requirements for the care of a child with a DEE, these disorders would be expected to impact health-related quality of life (HRQL) for caregivers as well as for patients. The objective of this literature review was to describe the impact of DEEs on the HRQL, emotional wellbeing, and usual activities (social, work, relationships, etc.) of caregivers, including the wider impact on other family members such as siblings. Methods: A literature search was conducted in May 2020 using MEDLINE Ò and Embase Ò databases. Quantitative and qualitative studies were identified using search terms related to family, disease type (including >20 specific DEEs), and quality of life/methodology. Each study was assessed for relevance and was graded using customized critical appraisal criteria. Findings from studies that were given the highest quality ratings were summarized and used to develop a conceptual model to illustrate the complex impact of DEEs on caregiver HRQL. Results: Sixty-seven relevant studies were identified, of which 39 (27 quantitative, 12 qualitative) met the highest appraisal criteria. The studies recruited caregivers of patients with one of eight individual DEEs, or pediatric intractable or refractory epilepsy. Most studies reported negative impacts on HRQL and emotional wellbeing in caregivers. The wide-ranging impact of a DEE was highlighted by reports of negative effects on caregivers' physical health, daily activities, relationships, social activities, leisure time, work, and productivity. Factors that influenced the perceived impact included demographic characteristics (e.g., child's age, living arrangements, family income) and clinical factors (e.g., feeding or sleep difficulties, disease severity). Few studies evaluated the impact on siblings. Conclusions: There is evidence that DEEs can impact HRQL and emotional wellbeing and can limit usual activities for the primary caregiver and their wider family. However, no research was identified regarding many individual DEEs, and only limited research assessed the impact on different family members with most studies focusing on mothers. Further research is required to understand the influence of certain factors such as the age of the patient, disease severity, and seizures on caregiver burden. Furthermore, the review highlighted the lack of appropriate measurement tools to assess caregiver HRQL in this population.

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

“…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 ).…”

A disease concept model for STXBP1-related disorders

“…However, in 1995, Wilson and Cleary modeled a conceptual framework that comprehensively surveyed the entirety of an affected individual or caregiver's lived experience with complex or rare disease, thereby centering the patients' experience within the resulting disease definition [18]. Using this model, several studies have created disease concept models (DCMs) of rare diseases, also referred to as conceptual models, conceptual disease models, and patient-centered models, to ensure patient and caregiver voices contribute to the description of the disorder [14,15,[19][20][21][22][23][24][25][26]. In addition, regulating entities have endorsed these patient-centered conceptual frameworks and increasingly encouraged drug development to involve patients and caregivers so that their perspectives are prioritized in disease treatment and understanding [27][28][29][30].…”

The Charlotte Project: Recommendations for patient-reported outcomes and clinical parameters in Dravet syndrome through a qualitative and Delphi consensus study

“…DS is a disease with a significant impact on patients' caregivers and relatives (53,54). For this reason, in category 6, the experts reached a consensus to recommend collecting information regarding the impact of the disease on the QoL of caregivers and to study the dynamics between patients, caregivers, and siblings at least every 3-6 months.…”

“…For this reason, in category 6, the experts reached a consensus to recommend collecting information regarding the impact of the disease on the QoL of caregivers and to study the dynamics between patients, caregivers, and siblings at least every 3-6 months. The ZBI was proposed as an assessment measure, presumably because it has been used in the field of epilepsy (53).…”