Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TSC and its impact on healthcare resources needed for its management remain unknown. Besides, the use of resources might vary across countries depending on the country-specific clinical practice. The aim of this paper is to describe the use of TSC-related resources and treatment patterns within the TOSCA registry. A total of 2,214 patients with TSC from 31 countries were enrolled and had a follow-up of up to 5 years. A search was conducted to identify the variables containing both medical and non-medical resource use information within TOSCA. This search was performed both at the level of the core project as well as at the level of the research projects on epilepsy, subependymal giant cell astrocytoma (SEGA), lymphangioleiomyomatosis (LAM), and renal angiomyolipoma (rAML) taking into account the timepoints of the study, age groups, and countries. Data from the quality of life (QoL) research project were analyzed by type of visit and age at enrollment. Treatments varied greatly depending on the clinical manifestation, timepoint in the study, and age groups. GAB Aergics were the most prescribed drugs for epilepsy, and mTOR inhibitors are dramatically replacing surgery in patients with SEGA, despite current recommendations proposing both treatment options. mTOR inhibitors are also becoming common treatments in rAML and LAM patients. Forty-two out of the 143 patients (29.4%) who participated in the QoL research project reported inpatient stays over the last year. Data from non-medical resource use showed the critical impact of TSC on job status and capacity. Disability allowances were more common in children than adults (51.1% vs 38.2%). Psychological counseling, social services and social worker services were needed by <15% of the patients, regardless of age. The long-term nature, together with the variability in its clinical manifestations, makes TSC a complex and resource-demanding disease. The present study shows a comprehensive picture of the resource use implications of TSC

Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study

The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2

Vulnerabilidades socioeconômicas e o cotidiano da assistência de enfermagem pediátrica: relato de enfermeiras Vulnerabilidad socioeconómica y el cuidado diario de la enfermería pediátrica: informe de enfermeras Socio-economic vulnerability and pediatric nursing care routine: nurses report

A equipe de saúde, quando considera as vulnerabilidades em que a criança e sua família estão inseridas, pode planejar e executar um cuidado integral a estas. Este estudo objetivou compreender as percepções dos enfermeiros sobre as influências das vulnerabilidades socioeconômicas no cuidado à criança e sua família, no ambiente de Unidades de Internação Pediátricas de um Hospital Universitário no Município de Porto Alegre. Trata-se de uma pesquisa qualitativa na perspectiva de um estudo exploratório descritivo. A coleta de informações ocorreu com nove participantes por meio de entrevistas individuais semiestruturadas, analisadas conforme referencial da Análise de Conteúdo. Emergiram três categorias de análise, duas das quais serão aqui exploradas: Vulnerabilidades socioeconômicas e o cotidiano da assistência de enfermagem pediátrica; Propostas e alternativas para o manejo das situações de vulnerabilidades socioeconômicas. Os resultados forneceram exemplos práticos e apontaram soluções para as vulnerabilidades socioeconômicas relacionadas com a assistência de enfermagem à criança e sua família.<br>El equipo de salud, cuando considera la vulnerabilidad en la cual están inmersos el niño y su familia, puede planificar y brindarles un cuidado integral. Este estudio tuvo como objetivo comprender la percepción que tienen los enfermeros sobre la influencia de la vulnerabilidad socioeconómica , en el cuidado del niño y la familia, en el ámbito de las Unidades de Internación Pediátrica en un Hospital Universitario en el Municipio de Porto Alegre. Se trata de una investigación cualitativa desde la perspectiva de un estudio explorable descriptivo. La recopilación de las informaciones se realizó con nueve participantes a través de entrevistas individuales semiestructuradas, analizadas según referencial del Análisis de Contenido. Surgieron tres categorías de análisis, de las cuales dos son analizadas aquí: Vulnerabilidad socioeconómica y cuidado cotidiano de la enfermería pediátrica; Propuestas y alternativas para el manejo de situaciones de vulnerabilidad socioeconómica. Los resultados proporcionaron ejemplos prácticos e ofrecieron soluciones para solventar la vulnerabilidad socioeconómica vinculada al cuidado que brinda la enfermería al niño y su familia.<br>By considering the vulnerabilities faced by a child and their family, a health care team can plan and execute an integrated plan to address these issues. The objective of this study, conducted in the environment of pediatric units at a University Hospital in the city of Porto Alegre, is aimed at understanding the perception of nurses regarding the influence of socioeconomic vulnerabilities on the care of a child and their family. This qualitative research is performed in the context of a descriptive exploratory study. Data collection was conducted using semistructured, individual interviews with nine participants, and then analyzed consistent with content analysis references. Three categories emerged from the analysis, and two are explored in this study: the impact of socio-economic vulnerabilities on the pediatric nursing care routine; and, proposals and alternatives for management of situations resulting from socioeconomic vulnerabilities. The results provide practical examples and solutions to socioeconomic vulnerabilities as related to the nursing care for children and their families