The Struggles of Families with Rare Diseases

Rare diseases, defined as those with a prevalence of less than 5 per 10,000 people, can have severe consequences on individuals and their families. Over half of rare diseases related to the central nervous system affect children, leading to social problems for both the child and their caregivers. Neurological rare diseases, particularly those characterized by high levels of epileptic seizures, pose additional challenges. Developmental and epileptic encephalopathies (DEE), a group of rare epileptic conditions, can lead to significant neurodevelopmental impairment, impacting a child's daily life and future functioning.

The Psychosocial Impact of DEE on Families

The psychosocial impact of DEE on families is profound and multifaceted. Primary caregivers, usually parents, face a high psychosocial burden, leading to emotional dysregulation, guilt, anxiety, and stress. Uncertainty about their child's health and future creates excessive worry. This burden often results in reduced work productivity, strained social relationships, and financial instability, jeopardizing the family's overall quality of life.

Caring for a Child with Dravet Syndrome

Dravet Syndrome serves as a paradigmatic test case and illustrative example. Dravet Syndrome is a severe and rare form of DEE. It typically begins in the first year of life and is characterized by frequent and prolonged seizures. Children with Dravet Syndrome may also experience cognitive, physical, and behavioral impairments. The unpredictable nature of seizures demands constant attention and vigilance from caregivers. Additionally, the child's needs may necessitate significant changes in daily routines, regular doctor visits, and various therapies, affecting the parents' ability to work and leading to financial challenges.

The Childhood Rare Epilepsy Social Impact Assessment (CRESIA)

To address the critical psychosocial impact on families caring for children with Dravet Syndrome and other DEE, our team developed the Childhood Rare Epilepsy Social Impact Assessment (CRESIA). This assessment tool provides quantitative data on caregivers' quality of life, focusing on social, psychological, general health, family, child-induced stressors, and economic aspects. The CRESIA scale offers valuable insights for understanding the challenges faced by families dealing with DEE.

The New Study: Creating a Quantitative Database

In a recent study, our team of researchers from three Spanish institutions (Nebrija University, ApoyoDravet Association and Fundación Salud Infantil) collaborated to create a quantitative database of psychosocial impact indicators for primary caregivers of children with DEE. We used the CRESIA scale to collect data from both experimental and control groups, providing a baseline for comparative studies. The study's extensive data collection and analysis confirmed the high degree of homogeneity in the results, reinforcing the validity and reliability of the dataset.

Addressing the Relevance of the Study

The new database resulting from this study is a significant step forward in understanding the psychosocial impact of DEE on families. It opens doors for future researchers to conduct more evidence-based interventions that can improve the well-being and quality of life for those caring for children with DEE. The insights gained from this study can inform targeted support systems and tailored interventions to help families cope with the challenges they face.

Conclusion

Caring for a child with developmental and epileptic encephalopathy, such as Dravet Syndrome, presents unique and complex challenges for families. The psychosocial impact on caregivers can be overwhelming, affecting emotional, financial, and social well-being. The development of the Childhood Rare Epilepsy Social Impact Assessment (CRESIA) and the subsequent creation of a quantitative database are significant contributions to the field, aiding in a better understanding of the challenges faced by these families. By recognizing the importance of assessment and intervention at the general family level, we can strive to improve the lives of those caring for children with DEE, offering much-needed support and resources.