RT Journal Article
T1 Necesidades sanitarias y socioeducativas de niños con enfermedades raras de tipo metabólico y sus familias: estudio cualitativo en un hospital de tercer nivel.
T2 [Health and socio-educational needs of the families and children with rare metabolic diseases: Qualitative study in a tertiary hospital].
A1 Tejada-Ortigosa, Eva Maria
A1 Flores-Rojas, Katherine
A1 Moreno-Quintana, Laura
A1 Muñoz-Villanueva, Maria Carmen
A1 Perez-Navero, Juan Luis
A1 Gil-Campos, Mercedes
K1 Apoyo familiar
K1 Apoyo social
K1 Calidad de vida
K1 Children
K1 Enfermedades raras
K1 Errores innatos del metabolismo
K1 Family support
K1 Health system
K1 Inborn errors of metabolism
K1 Niños
K1 Padres
K1 Parents
K1 Quality of life
K1 Rare diseases
K1 Sistema sanitario
K1 Social support
AB 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, there is great impact on the quality of life of patients, and their caregivers. Therefore, there is a need to evaluate the results of government health and socio-economic support plans for patients with rare diseases, and make a real response to their needs.
AB Introducción: Las enfermedades raras suponen un reto para la salud pública debido a la escasa información sobre su magnitud. Entre ellas destacan los errores congénitos del metabolismo. El presente estudio pretende valorar la calidad de vida y las posibles necesidades sanitarias, socioeducativas y económicas de los pacientes pediátricos con diagnóstico de ER de tipo meta bólico y de sus familiares o cuidadores principales, atendidos habitualmente en un hospital de tercer nivel. Material y método: Se desarrolló un cuestionario basado en las necesidades y expectativas recogidas fundamentalmente en el Plan Andaluz para las Enfermedades Raras. Se analizaron variables de los órdenes sociosanitario, económico y educativo en 65 pacientes pediátricos con errores congénitos del metabolismo. Resultados: Los encuestados manifestaron escasas posibilidades para afrontar el gasto de la medicación (61%), alimentación especial (86%) y otras prestaciones sanitarias (79%). El 43% consideraron que la calidad de vida familiar se afectó bastante desde la aparición de la enfer medad. En el 61,5% la cuidadora principal fue la madre, frente al 1,5% de casos en los que fue el padre. El cuidador principal redujo su jornada laboral o abandonó su trabajo en el 77% de los casos.
PB Elsevier
YR 2018
FD 2018-03-01
LK http://hdl.handle.net/10668/12525
UL http://hdl.handle.net/10668/12525
LA es
NO Tejada-Ortigosa EM, Flores-Rojas K, Moreno-Quintana L, Muñoz-Villanueva MC, Pérez-Navero JL, Gil-Campos M. Necesidades sanitarias y socioeducativas de niños con enfermedades raras de tipo metabólico y sus familias: estudio cualitativo en un hospital de tercer nivel [Health and socio-educational needs of the families and children with rare metabolic diseases: Qualitative study in a tertiary hospital]. An Pediatr (Engl Ed). 2019 Jan;90(1):42-50. Spanish
DS RISalud
RD Apr 5, 2025