[Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data]. / Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015.

INTRODUCTION: Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. AIM: To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement. MATERIALS AND METHOD: An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015. RESULTS: The Registry contained 38 patients, born between 1987 and 2013, in 18 hospitals. Thirteen (34.2%) were older than 18 years. Three patients had died. Genetic analysis identified PHOX2B mutations in 32 (86.5%) out of 37 patients assessed. The 20/25, 20/26 and 20/27 polyalanine repeat mutations (PARMs) represented 84.3% of all mutations. Longer PARMs had more, as well as more severe, autonomic dysfunctions. Eye diseases were present in 47%, with 16% having Hirschsprung disease, 13% with hypoglycaemia, and 5% with tumours. Thirty patients (79%) required ventilation from the neonatal period onwards, and 8 (21%) later on in life (late onset/presentation). Eight children (21%) were using mask ventilation at the first home discharge. Five of them were infants with neonatal onset, two of them, both having a severe mutation, were switched to tracheostomy after cardiorespiratory arrest at home. Approximately one-third (34.3%) of patients were de-cannulated and switched to mask ventilation at a mean age of 13.7 years. Educational reinforcement was required in 29.4% of children attending school. CONCLUSION: The implementation of the EuCHS Registry in Spain has identified some relevant issues for optimising healthcare, such as the importance of genetic study for diagnosis and assessment of severity, the high frequency of eye disease and educational reinforcement, as well as some limitations in ventilatory techniques.

Hipoplasia pontocerebelosa tipo I familiar con mutación en EXOSC3 / Familial EXOSC3-related pontocerebellar hypoplasia

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Diferencia en la relación de apego entre niños nacidos prematuros y niños nacidos a término: revisión bibliográfica / Difference in the attachment relationship between children born prematurely and children born at term: bibliographic review

Objetivo: Analizar la relación de apego de los niños nacidos prematuros con sus madres y padres, y compararla con la relación establecida entre los nacidos a término. Metodología: Revisión bibliográfica de la literatura en lengua inglesa y española de los últimos 12 años. Se usaron las bases de datos PubMed, ScienceDirect, Scopus, WOS y ProQuest. Los términos MeSH utilizados fueron: object attachment, premature infants, prematurity, mother-child relations en combinación con los operadores booleanos AND y OR. Se seleccionaron los artículos que cumplieron con los criterios de calidad metodológica establecidos por los investigadores (una puntuación ≥11 en la declaración STROBE). Resultados: Fueron seleccionados para el estudio 22 artículos completos (5 estudios cualitativos y 17 cuantitativos). En total se analizó una muestra de 1.785 sujetos en estudios cuantitativos y 164 en estudios cualitativos. Conclusión: No se observa relación entre la edad gestacional y el tipo de apego (AU)

Objective: To analyze the attachment relationship of children born prematurely with their mothers and compare it with the relationship established between mothers born at term. Methodology: Bibliographic review of the literature in English and Spanish of the last 12 years. The databases were PubMed, ScienceDirect, Scopus, WOS and ProQuest. The MeSH terms used: object attachment, premature infants, prematurity, mother-child relations in combination with the Boolean operators AND and OR. Articles that met the methodological quality criteria established by the researchers (a score ≥11 points in the STROBE statement) were selected. Results: 22 full articles (5 qualitative and 17 quantitative studies) were chosen for the study. In total, a sample of 1785 subjects in quantitative studies and 164 in qualitative studies was analyzed. Conclusion: Relationship between gestational age and type of attachment is not observed. (AU)