The International Classification of Functioning, Disability and Health Core Set for deafblindness. Part I: a systematic review of outcome measures.

INTRODUCTION: The International Classification of Functioning, Disability, and Health (ICF), developed by the World Health Organization, is a classification framework that focuses on the health and functioning of people with disabilities. As part of an ICF Core Set development, four studies need to be conducted, one of which is a systematic review. This study presents part 1 of the systematic review that aims to describe the outcome measures identified in the literature related to functioning in individuals with deafblindness. EVIDENCE ACQUISITION: The research team screened articles from eight scientific databases, three journals, and Google Scholar (March 2011 to September 2022). Articles were included if they studied individuals with deafblindness aged 18 and older. Studies that examined genetics or laboratory experiments involving animals were excluded. Data were extracted into a logbook with key descriptors such as study location and design, age of study population, and instruments/outcome measures used, which were further categorized into one of the following types: 1) standardized; 2) patient-reported measures, standardized (PT-S); 3) patient-reported measures, not standardized (PT-not S); 4) health professional, reported measures, standardized (HP-S); 5) Technical measures; 6) other measures (parent-reported standardized and laboratory measures). EVIDENCE SYNTHESIS: The review included 147 studies, of which most were conducted in Europe (47.6%) and North America (27.9%). Of the 314 identified outcome measures, 57 were Standardized, 59 were Patient Reported-Standardized (PT-S), 178 were patient reported non-standardized (PT-Not S) variables, 11 were health professional reported, standardized, five were technical, and four were classified as other measures. CONCLUSIONS: Most instruments measured functioning in daily activities and the mental health of individuals with deafblindness. Three deafblind-specific instruments were identified in this study, highlighting the need for more deafblind-specific instruments to be developed and utilized in research.

Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population.

Recent advances in genomic sequencing and genomic medicine are reshaping the landscape of clinical care. As a screening modality, genetic sequencing has the potential to dramatically expand the clinical utility of newborn screening (NBS), though significant barriers remain regarding ethical, legal, and social implications (ELSI) and technical and evidentiary challenges. Stakeholder-informed implementation research is poised to grapple with many of these barriers, and parents are crucial stakeholders in this process. We describe the formation and activities of a Community Research Board (CRB) composed of parents with diverse backgrounds assembled to participate in an ongoing research partnership with genomic and public health researchers at the University of North Carolina. The mission of the CRB is to provide insight into parental perspectives regarding the prospect of adding genomic sequencing to NBS and collaboratively develop strategies to ensure its equitable uptake. We describe how these contributions can improve the accessibility of research and recruitment methods and promote trust and inclusivity within diverse communities to maximize the societal benefit of population genomic screening in healthy children.

Impact of a treatment escalation/limitation plan on non-beneficial interventions and harms in patients during their last admission before in-hospital death, using the Structured Judgment Review Method.

OBJECTIVES: To assess the effect of using a treatment escalation/limitation plan (TELP) on the frequency of harms in 300 patients who died following admission to hospital. DESIGN: A retrospective case note review of 300 unselected, consecutive deaths comprising: (1) patients with a TELP in addition to a do-not-attempt cardiopulmonary resuscitation order (DNACPR); (2) those with DNACPR only; and (3) those with neither. Patient deaths were classified retrospectively as 'expected' or 'unexpected' using the Gold Standard Framework Prognostic Indicator Guidance. SETTING: Medical, surgical and intensive care units of a district general hospital. OUTCOMES: The primary outcome was the between-group difference in rates of harms, non-beneficial interventions (NBIs) and clinical 'problems' identified using the Structured Judgement Review Method. RESULTS: 289 case records were evaluable. 155 had a TELP and DNACPR (54%); 113 had DNACPR only (39%); 21 had neither (7%). 247 deaths (86%) were 'expected'. Among patients with 'expected' deaths and using the TELP/DNACPR as controls (incidence rate ratio (IRR)=1.00), the IRRs were: for harms, 2.99 (DNACPR only) and 4.00 (neither TELP nor DNACPR) (p<0.001 for both); for NBIs, the corresponding IRRs were 2.23 (DNACPR only) and 2.20 (neither) (p<0.001 and p<0.005, respectively); for 'problems', 2.30 (DNACPR only) and 2.76 (neither) (p<0.001 for both). The rates of harms, NBIs and 'problems' were significantly lower in the group with a TELP/DNACPR compared with 'DNACPR only' and 'neither': harms (per 1000 bed days) 17.1, 76.9 (p<0.001) and 197.8 (p<0.001) respectively; NBIs: 27.4, 92.1 (p<0.001) and 172.4 (p<0.001); and 'problems': 42.3, 146.2 (p<0.01) and 333.3 (p<0.001). CONCLUSIONS: The use of a TELP was associated with a significant reduction in harms, NBIs and 'problems' in patients admitted acutely and who subsequently died, especially if they were likely to be in the last year of life.