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Background: The transition to adult care for patients with epilepsy is a complicated clinical issue associated with adverse outcomes, including non-adherence to treatment, dropout of medical care, and worse prognosis. Moreover, youngsters with epilepsy are notably prone to emotional, psychological, and social difficulties during the transition to adulthood. Transition needs depend on the type of epilepsy and the epileptic syndrome, as well as on the presence of co-morbidities. Having a structured transition program in place is essential to reduce poor health consequences. A key strategy to optimize outcomes involves the use of transition readiness and associated factors assessment to implement the recognition of vulnerability and protective aspects, knowledge, and skills of these patients and their parents. Therefore, this study aims to provide a comprehensive framework of clinical and psychosocial aspects associated with the transition from pediatric to adult medical care of patients with epilepsy.
Methods: Measures examining different aspects of transition readiness and associated clinical, socio-demographic, psychological, and emotional factors were administered to 13 patients with epilepsy (M = 22.92, SD = 6.56) with (n = 6) or without (n = 7) rare diseases, and a respective parent (M = 56.63, SD = 7.36).
Results: patients showed fewer problems in tracking health issues, appointment keeping, and pharmacological adherence as well as low mood symptoms and moderate resiliency. Moreover, they referred to a low quality of sleep. Notably, parents of patients with rare diseases reported a lower quality of sleep as compared to the other group of parents.
Conclusions: Increasing awareness around transition readiness is essential to promote self-management skills of patients with epilepsy and their parents. Anticipating the period of transition could be beneficial, especially to prevent problematic sleep patterns and promote independence in health care management. Parents of patients with epilepsy and rare diseases should be monitored for their mental status which can affect patients' well-being.
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http://dx.doi.org/10.3390/brainsci14010021 | DOI Listing |
J Clin Invest
September 2025
Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, United Kingdom.
Understanding the genetic causes of diseases affecting pancreatic β cells and neurons can give insights into pathways essential for both cell types. Microcephaly, epilepsy and diabetes syndrome (MEDS) is a congenital disorder with two known aetiological genes, IER3IP1 and YIPF5. Both genes encode proteins involved in endoplasmic reticulum (ER) to Golgi trafficking.
View Article and Find Full Text PDFEpilepsia
September 2025
Department of Pharmacology and Neuroscience, Creighton University School of Medicine, Omaha, Nebraska, USA.
The rate of sudden unexpected death in epilepsy (SUDEP) is ~1 per 1000 patients each year. Terminal events reportedly involve repeated and prolonged apnea, suggesting a failure to autoresuscitate. To better understand the mechanisms and identify novel therapeutics, standardized tests to screen for autoresuscitation efficacy are needed in preclinical SUDEP.
View Article and Find Full Text PDFClin Lab
September 2025
Background: Patients with epilepsy often require long-term antiepileptic medications, which can affect hematological parameters. Influenza (H1N1) infection is known to potentially cause thrombocytopenia. This case examines the clinical implications of a 29-year-old female patient with epilepsy who developed influenza and significant platelet reduction.
View Article and Find Full Text PDFMol Genet Genomic Med
September 2025
Research Centre for Medical Genetics, Moscow, Russia.
Background: Developmental and epileptic encephalopathies (DEEs) comprise a diverse range of disorders that can arise from both genetic and non-genetic causes. Genetic DEEs are linked to pathogenic variants in various genes with different molecular functions. The wide clinical and genetic variability found in DEEs poses a considerable challenge for accurate diagnosis even with the use of comprehensive diagnostic approaches such as whole genome sequencing (WGS).
View Article and Find Full Text PDFJCI Insight
September 2025
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Patients with Dravet syndrome (DS) present with severe, spontaneous seizures and ataxia. While most patients with DS have variants in the sodium channel Nav1.1 α subunit gene, SCN1A, variants in the sodium channel β1 subunit gene, SCN1B, are also linked to DS.
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