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Author(s): Dermot Michael Wildes [sup.1] , Susan Harvey [sup.2] [sup.3] , Caoimhe Suzanne Costigan [sup.1] , Clodagh Sweeney [sup.1] , Éilis Twomey [sup.4] , Atif Awan [sup.1] [sup.3] [sup.5] , [...], Background Eculizumab for the treatment of atypical hemolytic uremic syndrome (HUS) is a standard of care. Central nervous system (CNS) involvement in Shiga toxin-producing Escherichia coli (STEC)-HUS is associated with increased morbidity and mortality. There is no consensus on the use of plasma exchange and/or eculizumab. We report a series (n = 4) of children with CNS involvement in STEC-HUS with excellent outcomes after treatment with eculizumab only and supportive therapies. Methods A retrospective chart review of patients with CNS involvement in STEC-HUS is managed with supportive therapies and eculizumab only. Results Four patients (75% female) with a median age of 5 years and 11 months (IQR: 23.5-105.5 months) were admitted to a tertiary pediatric nephrology center with CNS involvement in STEC-HUS. Neurological symptoms presented between days 2 and 7 of illness and included ataxia, altered mental status, visual symptoms, and seizures. All had an abnormal MRI brain. All received two doses of eculizumab, 1 week apart (dosing according to weight). Resolution of neurological symptoms was evident at a mean of 60 h post-administration (range: 24-72 h). All patients have complete kidney and neurological recovery at 12-month follow-up. Conclusion We present a case series of four children with STEC-HUS and CNS involvement, managed with eculizumab only, in lieu of plasma exchange (as per our previous policy). The marked improvement in symptoms in our cohort supports the use of eculizumab, rather than plasma exchange in the CNS involvement of STEC-HUS.

Introduction: Pathogenic variants in STXBP1 cause a spectrum of disorders mainly consisting of developmental and epileptic encephalopathy (DEE), often featuring drug-resistant epilepsy. An increased mortality risk occurs in individuals with drug-resistant epilepsy and DEE, with sudden unexpected death in epilepsy (SUDEP) often the major cause of death. This study aimed to identify the rate and causes of mortality in STXBP1-related disorders. Methods: Through an international call, we analyzed data on individuals with STXBP1 pathogenic variants, who passed away from causes related to their disease. Results: We estimated a mortality rate of 3.2% (31/966), based on the STXBP1 Foundation and the STXBP1 Global Connect registry. In total, we analyzed data on 40 individuals (23 males) harboring pathogenic STXBP1 variants, collected from different centers worldwide. They died at a median age of 13 years (range: 11 months—46 years). The most common cause of death was SUDEP (36%), followed by pulmonary infections and respiratory complications (33%). The incidence of SUDEP peaked in mid-childhood, while non-SUDEP causes were more frequent in early childhood or adulthood (p = 0.006). In the most severe phenotypes, death was related to non-SUDEP causes (p = 0.018). Conclusion: We found a mortality rate in STXBP1-related disorders similar to other DEEs, with an early age at death and SUDEP as well as pulmonary infections as the main cause of death. These findings assist in prognostic evaluation and genetic counseling for the families. They help to define the mortality risk of STXBP1-related disorders and implement preventative strategies. [ABSTRACT FROM AUTHOR]

Author(s): Eimear Kirby [sup.1] , Shiraz Elbashier [sup.2] , Clodagh Sweeney [sup.2] , Eilish Twomey [sup.3] , Kathleen Gorman [sup.4] [sup.5] , Michael Riordan [sup.2] [sup.6] , Atif Awan [sup.2] [...]

Nearly 10% of older adults reported food insecurity in 2021. The Supplemental Nutrition Assistance Program (SNAP) aims to reduce food insecurity by providing low-income households with benefits to purchase food. Twenty-one older adults discussed their experiences with SNAP during three focus groups. Thematic analysis indicated that benefits were appreciated but insufficient. Participants identified challenges to applying, using, and maintaining benefits in part due to age-related limitations. The results provide evidence that improved nutrition among older adults will require increasing benefit amounts, reducing paperwork, and easing restrictions on the use of benefits to purchase prepared foods. [ABSTRACT FROM AUTHOR]

Emotional self-regulation (ESR) challenges are well-documented in the diagnostic profiles of children with Autism; however, less is known about the development of ESR and the role of parents in ESR development for this population. Thirty-seven young children with autism and one of their parents participated in a home-based, observational study exploring the associations between the children's social communication and sensory processing characteristics and their parents' behaviors associated with ESR development. Findings revealed that parent use of physical and language behaviors were associated with child social communication abilities. No associations between child sensory processing and parent behaviors were found. Understanding the interactive processes between parents and children with ASD has implications for the development of parent-based interventions that increase child ESR.

Background: Evidence suggests experiential learning promotes the development of a range of transferrable skills including communication, responsibility, and social skills. However, many students are unable to participate in internships or other common forms of experiential education because they need to work for pay. University employment has been positively associated with academic success, but less is known about its potential to develop transferrable skills. Purpose: This evaluation assessed the outcomes and experiences of former student workers employed by the Supplemental Nutrition Assistance Program Outreach project in a paid, university position. Methodology/Approach: Former workers were surveyed regarding grade point average and graduation, employment and post-graduate education, transferrable skill development, and civic behaviors and attitudes. Findings/Conclusions: Former workers reported growth on transferrable skills (e.g., communication, problem-solving), civic behaviors, and attitudes and qualitatively attributed these gains to their work as outreach workers, particularly in terms of interacting with diverse clients in the community. Results suggest benefits associated with structuring meaningful experiences in university jobs similar to those observed in other experiential education settings. Implications: University employment may be a viable route for promoting transferrable skill development. Greater consideration of employment opportunities that foster partnerships between the institution and the community may benefit the university, community, and students.

Background: Therapeutic plasma exchange (TPE) is utilised in the management of a limited number of paediatric renal conditions. Despite its widespread acceptance and advancements in the practice of apheresis, there remains a paucity of data pertaining to paediatrics. We present a large retrospective review of our cohort of paediatric patients undergoing TPE for renal indications, outlining their outcomes and complications. Methods: A retrospective chart review was conducted for all patients (under 16 years) undergoing TPE for renal conditions between January 2002 and June 2019 in Ireland. Demographic and clinical data were extracted, with patients anonymised and stratified according to their pathology. Results: A total of 58 patients were identified. A total of 1137 exchanges were performed using heparin sodium anticoagulation. The median age was 35.5 months (IQR 18–110 months). The leading indication was neurological involvement in Shiga toxin–producing Escherichia coli haemolytic uraemic syndrome (STEC-HUS) (n = 29). Complications (minor or major) occurred in 65.5% (n = 38) of patients, with most experiencing minor complications 58.6% (n = 34). Asymptomatic hypocalcaemia was the most common complication in 43.1% (n = 25). Conclusions: Our experience of TPE, spanning 1137 exchanges, proved a safe, well-tolerated therapy. Most complications were minor, and with therapy conducted in specialised centres, there are very low levels of adverse events. [ABSTRACT FROM AUTHOR]