RISEinFAMILY project: the integration of families at neonatal intensive care units (NICUs) to empower them as primary caregivers: study protocol for a stepped wedge cluster controlled trial.

BACKGROUND: Family Integrated Care (FICare) has demonstrated positive outcomes for sick neonates and has alleviated the psychological burden faced by families. FICare involves structured training for professionals and caregivers along with the provision of resources to offer physical and psychological support to parents. However, FICare implementation has been primarily limited to developed countries. It remains crucial to assess the scalability of this model in overcoming social-cultural barriers and conduct a cost-effectiveness analysis. The RISEinFAMILY project aims to develop an adapted FICare model that can serve as the international standard for neonatal care, accommodating various cultural, architectural, and socio-economic contexts. METHODS: RISEinFAMILY is a pluri-cultural, stepped wedge cluster controlled trial conducted in Spain, Netherlands, the UK, Romania, Turkey, and Zambia. Eligible participants include infant-family dyads admitted to the Neonatal Intensive Care Unit (NICU) requiring specialised neonatal care for a minimum expected duration of 7 days, provided there are no comprehension barriers. Notably, this study will incorporate a value of implementation analysis on FICare, which can inform policy decisions regarding investment in implementation activities, even in situations with diverse data. DISCUSSION: This study aims to evaluate the scalability and adaptation of FICare across a broader range of geographical and sociocultural contexts and address its sustainability. Furthermore, it seeks to compare the RISEinFAMILY model with standard care, examining differences in short-term newborn outcomes, family mental health, and professional satisfaction. TRIAL REGISTRATION: ClinicalTrials.gov NCT06087666. Registered on 17 October 2023. PROTOCOL VERSION: 19 December 2022; version 2.2.

Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology.

Congenital disorders of glycosylation (CDG) represent a newly delineated group of inherited multisystem disorders characterized by defective glycoprotein biosynthesis. In the present study we report and discuss the clinical and neuropathological findings in a newborn with CDG type Ia (CDG-Ia). The patient presented mild dysmorphic facial features, inverted nipples, progressive generalized edema, hypertrophic cardiomyopathy, hepatosplenomegaly, muscular hypotonia and had severe hypoalbuminemia. Deficiency of phosphomannomutase (PMM)-2 activity was detected. Molecular analysis showed V231M/T237R mutations of the PMM2 gene. Muscular biopsy, disclosed myopathic alterations with myofibrillar disarray by electron microscopy. The patient died at 1 month of age of circulatory and respiratory failure. Autopsy showed liver fibrosis and renal abnormalities. Neuropathological abnormalities were mainly confined to the cerebellum. Histological and immunocytochemical examination of cerebellar tissue showed partial atrophy of cerebellar folia with severe loss of Purkinje cells, granular cell depletion and various morphological changes in the remaining Purkinje cells and their dendritic arborization. Autopsy findings confirm the complexity of the CDG-Ia syndrome, and indicate that CDG-Ia is a distinct disease entity, which can be differentiated from other neurological disorders and other types of CDG, not only clinically, but also based on unique pathological findings. The data proved useful in determining the underlying disease process associated with a defective N-glycosylation pathway.