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Abstract Background Phenylketonuria (PKU) is a rare genetic disorder characterized by a deficiency in the metabolism of the essential amino acid phenylalanine, which has a neurotoxic effect at high concentrations. The available treatment for PKU involves limiting the intake of phenylalanine through a restrictive diet. Strict adherence to treatment is essential for a child’s proper development. Owing to their rare and chronic condition, PKU patients and their caregivers need to address many specific challenges, which can affect their quality of life (QoL). Purpose This review aimed to identify, characterize, map, and summarize existing knowledge about the quality of life of PKU patients and their primary caregivers. Methods A scoping review was conducted following the PRISMA-ScR guidelines. The PubMed, PsycINFO, EMBASE, Scopus, CINAHL, and BVS databases were searched, and articles published between January 2000 and February 2023 were included. Results The search resulted in 3249 articles, 29 of which were selected for analysis. Most studies were cross-sectional, and the highest concentration of publications ranged between 2011 and 2021. Generic self-report questionnaires were the tools most commonly used to assess patients’ and their caregivers’ QoL. A significant negative impact on QoL was found in most studies with pediatric patients and caregivers. High current and lifetime blood Phe levels were associated with worse QoL in several domains, and higher tolerance of ingested phenylalanine was associated with a lower impact on QoL. Among caregivers, psychosocial variables such as stress, anxiety, depression, and child behavior problems were associated with poorer QoL. Higher perceived social and emotional support was a protective factor of QoL in caregivers. Conclusion Patients of pediatric age and their caregivers, younger caregivers, and female patients and caregivers seem to be especially vulnerable to QoL impairments. The social and emotional dimensions were the most affected. These results emphasize the importance of combining generic and disease-specific assessment tools to achieve a comprehensive assessment. Despite the growing interest in this topic, the longitudinal literature is limited, and there is a lack of interventional studies on this population. Future interventions addressing diet management and providing psychosocial support may benefit the QoL of the PKU population.

Adolescence is defined as a moment of seeking acceptance, which makes young people susceptible to the use of psychoactive substances. In this sense, this article is an excerpt from the research Narratives of adolescents about drugs and the Mental Health Services CAPSia and CAPSad: possible intersections in the context of Santa Cruz do Sul, whose objective is to analyse the place of drugs in the constitution of the subject and its effects, as well as the issues of intersectoriality in the basic network of the municipality, regarding health promotion and prevention of drug use and abuse by school students. Semi-structured interviews were conducted with health professionals, responsible for the Health at School Program (PSE). The results showed a distance between health and educational institutions, showing a lack of strategies for an intervention with adolescents. Given this, there is an urgent need to develop actions that aim to give support in the articulation between health and educational institutions

A presente escrita trata-se de um trabalho na modalidade de relato de experiência desenvolvido pela Liga Acadêmica de Psiquiatria da Universidade de Santa Cruz do Sul (LAP-UNISC) com adolescentes de duas escolas do município, sendo uma privada e outra pública. Objetiva-se relatar o trabalho de educação em saúde, realizado por meio de oficinas temáticas, com a intenção de indicar a importância de trabalhar a valorização da vida, abarcando temas como depressão, suicídio, bullying, bem como outros temas relevantes com os adolescentes escolares na contemporaneidade.