ABBREVIATIONSCaspr2 Contactin-associated protein 2 DESC Devastating epileptic encephalopathy in school-aged children FIRES Fever-induced refractory epileptic encephalopathy in school-age children IVIG Intravenous immunoglobulinLGi1 Leucine-rich glioma-inactivated 1 protein VGKC Voltage-gated potassium channel Fever-induced refractory epileptic encephalopathy in school-age children (FIRES) is a clinically recognized epileptic encephalopathy of unknown aetiology. Presentation in previously healthy children is characterized by febrile status epilepticus. A pharmacoresistant epilepsy ensues, occurring in parallel with dramatic cognitive decline and behavioural difficulties. We describe a case of FIRES in a 4-year-old boy that was associated with elevated voltage-gated potassium channel (VGKC) complex antibodies and a significant clinical and immunological response to immunomodulation. This case, therefore, potentially expands the clinical phenotype of VGKC antibodyassociated disease to include that of FIRES. Prior to immunomodulation, neuropsychology assessment highlighted significant attention, memory, and word-finding difficulties. The UK version of the Wechsler Preschool and Primary Scale of Intelligence assessment indicated particular difficulties with verbal skills (9th centile). Immunomodulation was initially administered as intravenous methylprednisolone (followed by maintenance oral prednisolone) and later in the disease course as regular monthly intravenous immunoglobulin infusions and low-dose azathioprine. Now aged 6 years, the seizure burden in this child is much reduced, although increased seizure frequency is observed in the few days before his monthly immunoglobulin infusions. Formal IQ assessment has not been repeated but there is no clinical suggestion of further cognitive regression. VGKC complex antibodies have been reported in a range of central and peripheral neurological disorders (predominantly presenting in adulthood), and the identification of elevated VGKC complex antibodies, combined with the response to immunotherapies in this child, supports an autoimmune pathogenesis in FIRES with potential diagnostic and therapeutic implications.Acute encephalopathy with inflammation-mediated status epilepticus is an increasingly recognized group of epileptic disorders which includes fever-induced refractory epileptic encephalopathy in school-age children (FIRES).1 Different terminology has been utilized to describe this group of disorders and it is likely that FIRES, 2 devastating epileptic encephalopathy in school-aged children (DESC), 3 and acute encephalitis with refractory, repetitive partial seizures 4,5 are within the same clinical spectrum of epileptic disorders. The underlying aetiology of these disorders is currently undetermined 1 and is likely to be heterogeneous. It is proposed that an immunological basis may account for some of these cases. 6 Clinically, FIRES ⁄ DESC occurs in previously healthy children with normal neurodevelopment, usually between the ages of 4 years and 11 years. 2,3 I...
Introduction: Involving youth with severe communication disabilities in health research is foregrounded in a perspective of rights and participation. Researchers aligned with a participatory and inclusive research agenda recommend that involving youth in health research should be a deliberate and well-planned process. However, limited examples exist of how researchers can facilitate the involvement of youth with severe communication disabilities in research projects. Method: The aim of this paper was to describe the application of the Involvement Matrix as a conceptual framework to guide the three phases of a research project with youth with severe communication disabilities.Results: Six youth aged 19-34 years consented to be involved in the project. All youth had a severe communication disability and used augmentative and alternative communication (AAC) to support their involvement in the research project. The Involvement Matrix provided a structure to delineate four involvement roles in three research phases: In Phase 1, youth were listeners to research information and advisors in the needs analysis. In Phase 2, as advisors and decision-makers, youth provided their opinions on selecting picture communication symbols for health materials. In Phase 3, as partners, they were copresenters at an online youth forum.
This study explored the experience of becoming a father following childhood cancer survival. Semi-structured interviews were conducted with five fathers and analysed using interpretative phenomenological analysis. Three superordinate themes emerged: 'moving away from and revisiting the experience of cancer', 'making sense of fortune and loss following a life-threatening illness' and 'valuing the opportunity to be a father'. The transition to fatherhood brought unique and specific challenges to fathers. Nevertheless, all appeared to have positively adjusted to this transition. Findings recommended providing information and support to childhood survivors who wish to or who are about to become fathers.
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