Necessidades dos pais de crianças com doença crónica complexa / Needs of parents of children with complex chronic illness

Em Portugal, as doenças crónicas complexas pediátricas têm uma prevalência significativa, com internamentos prolongados e constituem uma importante causa de morte. O aparecimento de uma doença crónica complexa na criança é sempre fonte de insegurança, medo e ansiedade para os pais, com necessidades a vários níveis. Todo o ser humano tem necessidades fundamentais e empenha-se para as satisfazer. Estas necessidades diferem de situação para situação, não só pela doença primária, mas sobretudo por questões individuais específicas. Embora haja uma maior provisão de cuidados paliativos pediátricos, há ainda pouca evidência relativamente às necessidades destas crianças e pais. Torna-se fundamental identificar estas necessidades, o que permite elaborar um plano de cuidados individualizado, ancorado na teoria do conforto de Katharine Kolcaba, que promova o conforto da criança e pais e, consequentemente, a melhoria da sua qualidade de vida. Neste sentido definiu-se como objetivo: compreender as necessidades dos pais de crianças com doença crónica complexa em relação a si, à criança e à família. Trata-se de um estudo qualitativo fenomenológico, sendo a amostra constituída por 12 pais de crianças com doença crónica complexa. A recolha de dados realizou-se através de entrevistas semiestruturadas e a análise dos dados foi efetuada com recurso à técnica de análise de conteúdo. Dos resultados obtidos, foram identificadas 5 categorias de necessidades: as necessidades físicas, as necessidades sociais, as necessidades psicológicas, as preocupações em relação ao futuro e o apoio dos profissionais de saúde. As necessidades mais valorizadas foram as necessidades físicas em relação ao filho. Compete aos profissionais de saúde acompanhar e apoiar as crianças e os pais durante toda a trajetória da doença, reconhecendo-os enquanto parceiros e membros ativos no processo do cuidar, proporcionando uma resposta adequada com vista à satisfação das suas necessidades e privilegiando um modelo de cuidados coordenados, centrado na criança e família.

In Portugal, pediatric complex chronic diseases have significant prevalence, with extensive hospital admissions and are an important cause of death. The appearance of a complex chronic illness in children is always source of insecurity, fear and anxiety for parents, with needs at various levels. Every Human Being has fundamental needs and strives to satisfy them. These needs differ from situation to situation, not only due to primary disease but, above all, because of specific individual issues. Although there is an increased provision of pediatric palliative care, there is still little evidence regarding the needs of these children and parents. It is essential to identify these needs, which allows the elaboration of an individualized care plan, anchored in Katharine Kolcaba's theory of comfort, which promotes the comfort of the child and parents and, consequently, the improvement of their quality of life. In this sense, it was defined as objective: understanding the needs of parents of children with a complex chronic illness in relation to themselves, the child and the family. This is a phenomenological qualitative study, with a sample consisting of 12 parents with children with a complex chronic illness. Data collection was carried out through semi-structured interviews and data analysis was carried out using the content analysis technique. From the results obtained, 5 categories of needs were identified: physical needs, social needs, psychological needs, concerns about the future and support from health professionals. The most valued needs were the physical needs in relation to the child. Health professionals are required to monitor and support children and parents throughout the course of the disease, recognizing them as partners and active members in the care process, providing an adequate response to meet their needs and favoring a coordinated care model, childand family-centered.

Monogenic diabetes: a new pathogenic variant of HNF1A gene.

Maturity onset diabetes of the young defines a diabetes mellitus subtype, with no insulin resistance or autoimmune pancreatic ß-cells dysfunction, that occurs by mutation in a single gene. A 13-year-old girl hospitalised due to hyperglycemia plus glycosuria without ketosis, and with normal glycated haemoglobin of 6.8%. She started a sugar-free fast-absorption diet and no insulin therapy was required. Fasting glucose was normal, but 2 hours after lunch she presented hyperglycemia as after 2 hours of an oral glucose tolerance test, with 217 mg/dL. Family history was positive for type 2 diabetes mellitus with an autosomal dominant pattern. She was discharged with fast-absorption sugar-free diet and low-dose of sulfonylurea. A genetic test was performed detecting a mutation in heterozygosity of HNF1A gene, compatible with the diagnosis of maturity onset diabetes of the young 3 (MODY3), not reported in the literature. Early recognition of signs and symptoms increase awareness of MODY. Genetic test allows confirmation and leads to optimised treatment.