Tejada-Ortigosa Eva María, Flores-Rojas Katherine, Moreno-Quintana Laura, Muñoz-Villanueva María Carmen, Pérez-Navero Juan Luis, Gil-Campos Mercedes
Servicio de Pediatría, Hospital Universitario Reina Sofía, Universidad de Córdoba, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Córdoba, España.
Unidad de Metabolismo Infantil, Hospital Universitario Reina Sofía, Universidad de Córdoba, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBERObn), Córdoba, España.
An Pediatr (Engl Ed). 2019 Jan;90(1):42-50. doi: 10.1016/j.anpedi.2018.03.003. Epub 2018 May 28.
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.
由于缺乏关于罕见病规模的信息，罕见病对公共卫生构成挑战。这些疾病包括先天性代谢缺陷。本研究的目的是评估一组在医院接受治疗的患有先天性代谢缺陷的儿科患者的生活质量以及社会、健康、经济和教育需求。
基于需求和期望制定了一份问卷，主要依据安达卢西亚罕见病计划。对65名患有先天性代谢缺陷的儿科患者的健康、社会经济和教育需求变量进行了分析。
受访者应对药物治疗（61%）、特殊饮食（86%）和其他健康福利（79%）的可能性较小。近一半（43%）的受访者认为自疾病发作以来家庭生活质量大幅下降。主要照顾者在61.5%的情况下是母亲，而父亲作为主要照顾者的情况占1.5%。在77%的情况下，主要照顾者不得不减少工作时间或放弃工作。
多学科治疗受到家庭无力承担高昂费用以及难以获取这些资源的影响。此外，这对患者及其照顾者的生活质量有很大影响。因此，有必要评估政府针对罕见病患者的健康和社会经济支持计划的成果，并切实满足他们的需求。
