[Health and socio-educational needs of the families and children with rare metabolic diseases: Qualitative study in a tertiary hospital].

Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)
Eva María Tejada-OrtigosaMercedes Gil-Campos

Abstract

Rare diseases are a challenge for public health due to the lack of information on their magnitude. These include inborn errors of metabolism. The objective of this study was to assess the quality of life and social, health, economic, and educational needs of a group of paediatric patients with inborn errors of metabolism attended to in a hospital. A questionnaire was developed based on the needs and expectations, based mainly on the Andalusian Plan for Rare Diseases. An analysis was performed on the variables of health, socioeconomic, and educational needs of 65 paediatric patients with inborn errors of metabolism. The respondents showed few possibilities to cope with medication (61%), special diet (86%), and other health benefits (79%). Just under half of them (43%) believed that the quality of family life had been greatly reduced since the onset of the disease. The main caregiver was the mother in 61.5% of cases, compared to 1.5% of cases in which it was the father. The primary caregivers had to reduce their working hours or give up their job in 77% of cases. The multidisciplinary treatment is affected by the inability of families to cope with a high cost, as well as with difficult access to these resources. In addition, ther...Continue Reading

Citations

Oct 8, 2020·International Journal of Environmental Research and Public Health·Carmen Francisco MoraAnna Balcells-Balcells
Oct 21, 2020·Orphanet Journal of Rare Diseases·Sarah BerrocosoJulián Nevado

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