Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families.

Background Sudden infant death syndrome (SIDS) is the leading cause of death up to age 1. Sudden unexplained death in childhood (SUDC) is similar but affects mostly toddlers aged 1 to 4. SUDC is rarer than SIDS, and although cardiogenetic testing (molecular autopsy) identifies an underlying cause in a fraction of SIDS, less is known about SUDC. Methods and Results Seventy-seven SIDS and 16 SUDC cases underwent molecular autopsy with 25 definitive-evidence arrhythmia-associated genes. In 18 cases, another 76 genes with varying degrees of evidence were analyzed. Parents were offered cascade screening. Double-blind review of clinical-genetic data established genotype-phenotype correlations. The yield of likely pathogenic variants in the 25 genes was higher in SUDC than in SIDS (18.8% [3/16] versus 2.6% [2/77], respectively; P=0.03), whereas novel/ultra-rare variants of uncertain significance were comparably represented. Rare variants of uncertain significance and likely benign variants were found only in SIDS. In cases with expanded analyses, likely pathogenic/likely benign variants stemmed only from definitive-evidence genes, whereas all other genes contributed only variants of uncertain significance. Among 24 parents screened, variant status and phenotype largely agreed, and 3 cases positively correlated for cardiac channelopathies. Genotype-phenotype correlations significantly aided variant adjudication. Conclusions Genetic yield is higher in SUDC than in SIDS although, in both, it is contributed only by definitive-evidence genes. SIDS/SUDC cascade family screening facilitates establishment or dismissal of a diagnosis through definitive variant adjudication indicating that anonymity is no longer justifiable. Channelopathies may underlie a relevant fraction of SUDC. Binary classifications of genetic causality (pathogenic versus benign) could not always be adequate.

Developing family-centred care in a neonatal intensive care unit: An action research study.

AIM: To develop, implement and evaluate family-centred interventions to promote parental involvement in caregiving in a Neonatal Intensive Care Unit. METHODOLOGY: A participatory action research approach was used to implement two changes in practice a) improved skin-to-skin contact b) unlimited parental presence at the cot-side. The changes were underpinned by a family-centred philosophy of care and education. Data were collected from staff using a questionnaire, focus groups and interviews, and from parents using focus groups and interviews. Qualitative data were analysed using Framework and quantitative data analysed using descriptive and t-test statistics. SETTING: A Neonatal Intensive Care Unit in England. FINDINGS: Changes in practice were successfully implemented. Nurses reported positively on improvements in Family Centred Care; most notably information-sharing with parents, providing family support, enabling parental participation in care and improved competence supporting parents in care-giving. These changes were reflected in parental feedback. CONCLUSION: Understanding the context of the neonatal unit can support cultural change when change is actively facilitated and owned by the staff concerned. Acknowledging parents as the main caregiver can be challenging for nurses and they require support and education to enable them to manage the changes necessary to provide Family-Centred Care.

Initial experience of an investigational 3T MR scanner designed for use on neonatal wards.

OBJECTIVES: MR imaging of neonates is difficult for many reasons and a major factor is safe transport to the MR facilities. In this article we describe the use of a small, investigational 3-T MR customised for brain imaging and sited on a neonatal unit of a tertiary centre in the UK, which is in contrast to a 300-m journey to the whole-body MR scanner used at present for clinical cases. METHODS: We describe our methods for preparing babies for safe transport and scanning on an investigational 3-T MR scanner on a neonatal unit and the development of appropriate MR sequences. The MR scanner does not have CE marking at present so this early development work was undertaken on normal neonates whose parents consented to a research examination. RESULTS: Fifty-two babies were scanned and there were no serious adverse events. The MR examinations were considered to be diagnostically evaluable in all 52 cases and in 90% the imaging was considered to be at least as good as the quality obtained on the 1.5-T scanner currently used for clinical cases. CONCLUSION: We have shown that this investigational 3-T MR scanner can be used safely on a neonatal unit and we have refined the MR sequences to a point that they are clinically usable. KEY POINTS: • Access to neonatal MR imaging is limited. • We describe an investigational 3-T MR scanner site on a neonatal unit. • The scanner produces images suitable for clinical practice.

Developing family-centred care in a neonatal intensive care unit: an action research study protocol.

AIM: The aim of this study was to develop, implement and evaluate evidence-based family-centred interventions and to promote parental involvement in the care of infants in neonatal intensive care. BACKGROUND: Parental involvement in the care of their infants in Neonatal Intensive Care Units leads to improved neonatal outcomes. Although research identifies the benefits of individual interventions to promote family-centred care, little is known about how they might be implemented in everyday practice. DESIGN: Participatory action research. METHODS: Funding commenced in January 2015. The study comprises three phases: (i) Exploration: Baseline measures of staff and parental satisfaction with care and parental stress will be obtained using validated survey instruments. Baseline infant data includes breast feeding and skin-to-skin contact. Staff focus groups and interviews will provide insight into the context of parental involvement and perceived barriers to change. Parent focus groups and diaries will provide insight into factors influencing parental involvement in care. The data will inform the development of the evidence-based intervention; (ii) INTERVENTION: Three action research cycles and ongoing data collection from parents and staff will inform the further development of the intervention and change process; (iii) EVALUATION: Baseline measures will be repeated to identify changes. Focus groups and interviews with staff and parents will provide insight into their perceptions of the success of the initiative in promoting family-centred care. DISCUSSION: This study will contribute new knowledge about approaches to actively involve parents in the care of their infant on neonatal intensive care units. Greater understanding of the impact of family-centre care on staff and parents will be gained with the potential to inform future policy and practice.