ABSTRACT Purpose: The aim of this study was to identify the most typical and relevant categories of the International Classification of Functioning, Disability and Health (ICF) for patients with 22q11.2 Deletion Syndrome. Methods: Based on the Delphi technique an expert survey through e-mail was performed among health professionals’ specialists in the 22q11.2DS. Data were collected in 2 rounds. Answers were analysed for the degree of consensus. Results: 7 Experts recruited through e-mail distribution lists of professional organizations and personal networks participated in the study. Categories in all ICF components that were considered typical and/or relevant by at least 80% of the responders were added to a pilot ICF instrument for children with 22q11.2DS, with a total of 145 ICF categories. Conclusion: a list of ICF categories that are considered relevant and typical for 22q11.2DS condition by international experts was created. This is an important step towards identifying ICF Core Sets for chronic paediatric conditions in Brazil.

Abstract Introduction: Rare health conditions as mucopolysaccharidoses (MPS) can directly influence functioning experiences. Mobility restriction, osteoarticular alterations, leads to delayed neuropsychomotor development are some of the negative impacts of MPS. Aims: The purpose of this study is to evaluate the functioning of children with MPS, from the International Classification of Functioning, Disability, and Health (ICF) perspective. Methodology: It is a case series study with a sample of 15 children and adolescents with MPS with a median age of 12 years, followed in a tertiary hospital in Rio de Janeiro, Brazil. Results: The patients were assessed by the model ICF and results were as following: regarding body functions, most categories presented slight impairment. For mobility of joints and gait, the impairment was severe. Activity and participation with most significant limitations were "learning to read/write", "read/write", "listening" and "performing multiple tasks." In self-care, the main limitations were in "drinking", "taking care of body parts" and "taking care of one's health." Also, there were restrictions on "doing household tasks", "basic economic transactions", "community living" and "religion and spirituality". Conclusion: MPS can have a significant impact in different body systems which act as limiting activities that require body mobility.

Resumo Introdução: Na última década, a inclusão de indicadores de funcionalidade na atenção à saúde tem sido discutida na agenda internacional. As estratégias relacionadas à implementação de indicadores de funcionalidade são uma questão que envolve educação, gestão e assistência à saúde. Objetivo: Este ensaio teórico tem como objetivo discutir o potencial da Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF) como ferramenta útil na produção de informação para os serviços de saúde. Método: Utilizamos como pressupostos teóricos o modelo universal, a CIF. Nosso pressuposto baseia-se no modelo biopsicossocial do binômio saúde-doença. Resultados: Indicadores de funcionalidade podem medir o real impacto das condições de saúde em diferentes domínios da vida. A partir das reflexões realizadas e alicerces teóricos acessados, percebe-se que a implementação de indicadores de funcionalidade nos inquéritos populacionais periódicos em saúde e protocolos de registro para informação clínica, independentemente do nível de serviço de saúde, seria de grande interesse. Vale ressaltar que o grupo de indicadores de funcionalidade deve ser proposto em uma linguagem universal e, portanto, a CIF representa o modelo mais abrangente. Conclusão: O indicador de funcionalidade pode ser útil para o gerenciamento da saúde. As informações sobre funcionalidade são essenciais para melhorar o planejamento e a qualidade dos serviços de saúde e podem ser usadas no planejamento e monitoramento dos cuidados de saúde; podem ser coletadas em pesquisas de saúde da população por ferramentas específicas; e poderiam ser produzidas usando a CIF como uma estrutura na coleta diária de informações sobre saúde.

Abstract Introduction: In the last decade, the inclusion of a functioning indicator in health care has been discussed on the international agenda. The strategies related to the implementation of these indicators are issues that involve health education, governance, and medical records. Objective: study aims to discuss the International Classification of Functioning, Disability and Health (ICF) potential as a useful tool to produce information on health care services. Method: As theoretical assumptions, the universal model of the ICF based on the biopsychosocial model was used. Results: When used as a health indicator, functioning data can measure the real effect of some health conditions in different life domains. Based on the reflections carried out and theoretical foundations accessed, the study shows that the implementation of functioning indicators in periodical population health surveys and protocols of clinical documentation regardless the level of health service would be relevant for Patient Care Planning. Note that the group of functioning indicators should be proposed in a universal language and, therefore, ICF represents the most comprehensive model. Conclusion: Information regarding health status can be useful to enable health care management. Furthermore, ICF are essential to improve the documentation service of the health system and also can be used in planning and monitoring health care. It can also be used to collect disability data in surveys ensuring comparison among different surveys.

Resumen Introducción: En la última década, la inclusión de indicadores de funcionamiento en la atención de salud se ha discutido en la agenda internacional. Las estrategias relacionadas con la implementación de los indicadores de funcionamiento son un tema que involucra educación, gestión y atención médica. Objetivo: Este ensayo teórico tiene como objetivo discutir el potencial de Clasificación Internacional del Funcionamiento, de la Discapacidad y de la Salud (CIF) como una herramienta útil para producir información en los servicios de atención médica. Método: Utilizamos como suposiciones teóricas el modelo universal de la CIF con base en el modelo biopsicosocial del binomio salud-enfermedad. Resultados: Los indicadores de funcionamiento pueden medir el impacto real de las condiciones de salud en diferentes dominios de la vida. Con base en las reflexiones realizadas y los fundamentos teóricos, se observa que sería esencial la implementación de indicadores de funcionamiento en las encuestas periódicas de salud de la población y en los protocolos de registro para la información clínica, independiente del nivel del servicio de salud. Vale la pena mencionar que el grupo de indicadores de funcionamiento debe proponerse en un lenguaje universal y, por lo tanto, CIF representa el modelo más completo. Conclusión: El indicador de funcionamiento puede ser útil para la gestión de la salud. Las informaciones sobre funcionamiento son esenciales para mejorar la planificación y la calidad de los servicios de salud y se puede utilizarlas para planificar y monitorear los cuidados en salud; y se puede recopilarlas en encuestas de salud de la población mediante herramientas específicas; y podría recopilarse utilizando la CIF como herramienta en la recopilación diaria de información sobre salud.

There is a case of a 38 year-old male patient coming from an area where hepatic fascioliasis is endemic in Peru. He was hospitalized because he showed 4 weeks of symptoms like fever, intense myalgias, erythematous and painful injuries on limb extensions. The electromyography and nerve conduction velocity showed a global inflammatory myopathy. A skin biopsy showed polyarteritis nodosa-type vasculitis. During the evaluation process prior to the immunosuppressive therapy, hepatic Fasciola eggs were found in the parasitological examination of stools. The fascioliasis diagnosis was confirmed by fas2-ELISA: 0.46 (VN <0.20). Clinical symptoms started to subside after treatment with ticlabendazol. Contact with the patient was maintained for a year and there was no evidence of disease recurrence, and he was asymptomatic

Se presenta el caso de un paciente varón de 38 años, procedente de una zona endémica para fascioliasis hepática en el Perú. Fue hospitalizado por presentar un cuadro de cuatro semanas de evolución; con fiebre, mialgias intensas, lesiones eritematosas y dolorosas en las regiones de extensión de las extremidades. La electromiografía y la velocidad de conducción nerviosa mostraron una miopatía inflamatoria global. La biopsia de piel evidenció una vasculitis de tipo poliarteritis nodosa. En el proceso de evaluación previa a la terapia inmunosupresora, se hallaron huevos de Fasciola hepática en el examen coproparasitológico. El diagnóstico de fascioliasis se confirmó con fas2-ELISA: 0,46 (VN <0,20). El cuadro clínico remitió luego del tratamiento con ticlabendazol. Se mantuvo contacto con el paciente durante un año y no se evidenció recurrencia de la enfermedad, manteniéndose asintomático

There is a case of a 38 year-old male patient coming from an area where hepatic fascioliasis is endemic in Peru. He was hospitalized because he showed 4 weeks of symptoms like fever, intense myalgias, erythematous and painful injuries on limb extensions. The electromyography and nerve conduction velocity showed a global inflammatory myopathy. A skin biopsy showed polyarteritis nodosa-type vasculitis. During the evaluation process prior to the immunosuppressive therapy, hepatic Fasciola eggs were found in the parasitological examination of stools. The fascioliasis diagnosis was confirmed by fas2-ELISA: 0.46 (VN <0.20). Clinical symptoms started to subside after treatment with ticlabendazol. Contact with the patient was maintained for a year and there was no evidence of disease recurrence, and he was asymptomatic

Se presenta el caso de un paciente varón de 38 años, procedente de una zona endémica para fascioliasis hepática en el Perú. Fue hospitalizado por presentar un cuadro de cuatro semanas de evolución; con fiebre, mialgias intensas, lesiones eritematosas y dolorosas en las regiones de extensión de las extremidades. La electromiografía y la velocidad de conducción nerviosa mostraron una miopatía inflamatoria global. La biopsia de piel evidenció una vasculitis de tipo poliarteritis nodosa. En el proceso de evaluación previa a la terapia inmunosupresora, se hallaron huevos de Fasciola hepática en el examen coproparasitológico. El diagnóstico de fascioliasis se confirmó con fas2-ELISA: 0,46 (VN <0,20). El cuadro clínico remitió luego del tratamiento con ticlabendazol. Se mantuvo contacto con el paciente durante un año y no se evidenció recurrencia de la enfermedad, manteniéndose asintomático