[Health and socio-educational needs of the families and children with rare metabolic diseases: Qualitative study in a tertiary hospital]. / Necesidades sanitarias y socioeducativas de niños con enfermedades raras de tipo metabólico y sus familias: estudio cualitativo en un hospital de tercer nivel.

INTRODUCTION: 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. MATERIAL AND METHOD: 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. RESULTS: 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. CONCLUSIONS: 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.

Nutritional assessment in neonatal and prepubertal children with a history of extrauterine growth restriction.

BACKGROUND: Nutritional deficit during perinatal stage may induce significant alterations in adipose tissue and increase the risk of obesity, metabolic syndrome and cardiovascular disease in children with a history of extrauterine growth restriction (EUGR). AIMS: To describe the nutritional status in neonatal and prepubertal with a history of EUGR and establish an association between EUGR and later conditions. STUDY DESIGN: Descriptive, analytical, observational case-control study. SUBJECTS: The study included a sample of 38 prepubertal children with a history of EUGR, and 123 gender-and-age matched controls. OUTCOME MEASURES: The EUGR group was asked to answer a food frequency questionnaire. Analysis of body composition in both groups included anthropometric measurements, assessment of blood pressure and biochemical markers. RESULTS: Newborns with EUGR received parenteral feeding with a standard nutritional regime and long-chain fatty acid support for 41 ± 23 days; enteral feeding with a special formula for premature infants was initiated at 7 ± 11 days of life. At the prepubertal stage, daily fiber and fatty acid intake in children who had experienced EUGR in the neonatal stage was below the recommended intake. In the EUGR group, the intake of vegetables, fruits and olive oil was below dietary recommendations, while the intake of butchery, fatty meats, pastries and snacks was above the recommendations for the Spanish population. CONCLUSIONS: Appropriate nutrition education strategies should be developed for children with a history of EUGR to prevent later associated pathologies, as neonatal nutritional support and feeding during childhood are associated with an increase in diseases in this risk group.