Transitions for older people with intellectual disabilities and behaviours that challenge others: a rapid scoping review

Background: People with intellectual disabilities and behaviours that challenge others are living longer. This review aimed to explore what is known about the health and social care needs, experiences, service interventions and resources of and for this population as they transition to different care contexts in the UK. Method: A rapid scoping review of published and unpublished literature was conducted based on collaborative working with key stakeholders and using systematic methods of data searching, extraction and analysis. Results: Consistent social work support, skilled staff, suitable accommodation, creative engagement with individuals and families to plan ahead, and timely access to quality healthcare are all required to promote successful transitions as people age, and to avoid unwanted/inappropriate transitions at points of crisis. Conclusions: More research is needed to assess the types of services that this population can and do access as they age, the quality of those services, and the extent to which local commissioners are planning ahead for people with intellectual disabilities and behaviours that challenge others

Occurrence of Radiographic Osteoarthritis of the Knee and Hip Among African Americans and Whites: A Population-Based Prospective Cohort Study

To compare the incidence and progression of radiographic osteoarthritis (OA) in the knee and hip among African Americans and whites

Economic Analysis Shows Value of Volunteering in Palliative Care Day Services

This is the final version. Available on open access from SAGE Publications via the DOI in this recordPublic Health Research in Palliative Care: Towards Solutions for Global Challenges seminar. Hosted online by All-Ireland Institute of Hospice and Palliative Care (AIIHPC), 17-18 November 2020Background: Research shows that people living with severe economic disadvantage are less likely to access palliative care services in the United Kingdom and that funeral poverty is growing. However, little is understood about the ways in which the structural, social, and economic aspects of poverty impact upon preparing for end of life, and experiences of dying and bereavement. While public health approaches to palliative care and ‘death awareness’ initiatives encourage wider acceptance of the need to prepare for end of life, there is a need to examine the relevance of these approaches to people struggling to live well. Aims: This study examines the notion of ‘a good death’ within low-income communities, and the ways in which poverty affects attitudes towards, and experiences of, death and dying. Methods: Taking a qualitative and engaged approach, exploratory workshops were held bringing together health care professionals, voluntary organisations, and community groups to share existing knowledge and identify research priorities. Qualitative interviews were then carried out with 10 professionals supporting individuals through end-of-life and bereavement in low-income communities (e.g. funeral directors, faith leaders, advice workers) and 10 bereaved individuals with experience of funeral poverty. Interviews were conducted via phone/video call and data include experiences of end of life and bereavement both before and during the pandemic. Results: This article will present early findings and provide evidence of the impact of poverty on experiences of death and dying at different stages of the life course; including concerns around preparing for death, experiences of end of life, and bereavement. Discussion: This paper will consider whether some public health approaches to palliative care might inadvertently increase inequalities in access to care and support, and whether specific approaches may be needed to address the concerns of people on a low income in relation to a ‘good death’.Wellcome Trus

Hospital length of stay and surgery among European children with rare structural congenital anomalies – A population-based data linkage study

Little is known about morbidity for children with rare structural congenital anomalies. This European, population-based data-linkage cohort study analysed data on hospitalisations and surgical procedures for 5948 children born 1995-2014 with 18 rare structural congenital anomalies from nine EUROCAT registries in five countries. In the first year of life, the median length of stay (LOS) ranged from 3.5 days (anotia) to 53.8 days (atresia of bile ducts). Generally, children with gastrointestinal anomalies, bladder anomalies and Prune-Belly had the longest LOS. At ages 1-4, the median LOS per year was ≤3 days for most anomalies. The proportion of children having surgery before age 5 years ranged from 40% to 100%. The median number of surgical procedures for those under 5 years was two or more for 14 of the 18 anomalies and the highest for children with Prune-Belly at 7.4 (95% CI 2.5-12.3). The median age at first surgery for children with atresia of bile ducts was 8.4 weeks (95% CI 7.6-9.2) which is older than international recommendations. Results from the subset of registries with data up to 10 years of age showed that the need for hospitalisations and surgery continued. The burden of disease in early childhood is high for children with rare structural congenital anomalies

Gastrostomy and congenital anomalies - a European population-based study

OBJECTIVE: To report and compare the proportion of children with and without congenital anomalies undergoing gastrostomy for tube feeding in their first 5 years. METHODS: A European, population-based data-linkage cohort study (EUROlinkCAT). Children up to 5 years of age registered in nine EUROCAT registries (national and regional) in six countries and children without congenital anomalies (reference children) living in the same geographical areas were included. Data on hospitalisation and surgical procedures for all children were obtained by electronic linkage to hospital databases. RESULTS: The study included 91 504 EUROCAT children and 1 960 272 reference children. Overall, 1200 (1.3%, 95% CI 1.2% to 1.6%) EUROCAT children and 374 (0.016%, 95% CI 0.009% to 0.026%) reference children had a surgical code for gastrostomy within the first 5 years of life. There were geographical variations across Europe with higher rates in Northern Europe compared with Southern Europe. Around one in four children with Cornelia de Lange syndrome and Wolf-Hirschhorn syndrome had a gastrostomy. Among children with structural anomalies, those with oesophageal atresia had the highest proportion of gastrostomy (15.9%). CONCLUSIONS: This study including almost 2 million reference children in Europe found that only 0.016% of these children had a surgery code for gastrostomy before age 5 years. The children with congenital anomalies were on average 80 times more likely to need a gastrostomy before age 5 years than children without congenital anomalies. More than two-thirds of gastrostomy procedures performed within the first 5 years of life were in children with congenital anomalies

European study showed that children with congenital anomalies often underwent multiple surgical procedures at different ages across Europe

Aim: Children with congenital anomalies often require surgery but data on the burden of surgery for these children are limited. Methods: A population-based record-linkage study in Finland, Wales and regions of Denmark, England, Italy and Spain. A total of 91,504 children with congenital anomalies born in 1995-2014 were followed to their tenth birthday or the end of 2015. Electronic linkage to hospital databases provided data on in-patient surgical procedures and meta-analyses of surgical procedures were performed by age groups. Results: The percentage of children having surgery in the first year was 38% with some differences across regions and 14% also underwent surgery at age 1-4 years. Regional differences in age at the time of their first surgical procedure were observed for children with cleft palate, hydronephrosis, hypospadias, clubfoot and craniosynostosis. The children had a median of 2.0 (95%CI1.98,2.02) surgical procedures before age five years with children with oesophageal atresia having the highest median number of procedures (4.5; 95% CI 3.3, 5.8). Conclusion: A third of children with congenital anomalies required surgery during infancy and often more than one procedure was needed before age five years. There was no European consensus on the preferred age for surgery for some anomalies

Accuracy of congenital anomaly coding in live birth children recorded in European health care databases, a EUROlinkCAT study

Electronic health care databases are increasingly being used to investigate the epidemiology of congenital anomalies (CAs) although there are concerns about their accuracy. The EUROlinkCAT project linked data from eleven EUROCAT registries to electronic hospital databases. The coding of CAs in electronic hospital databases was compared to the (gold standard) codes in the EUROCAT registries. For birth years 2010–2014 all linked live birth CA cases and all children identified in the hospital databases with a CA code were analysed. Registries calculated sensitivity and Positive Predictive Value (PPV) for 17 selected CAs. Pooled estimates for sensitivity and PPV were then calculated for each anomaly using random effects meta-analyses. Most registries linked more than 85% of their cases to hospital data. Gastroschisis, cleft lip with or without cleft palate and Down syndrome were recorded in hospital databases with high accuracy (sensitivity and PPV ≥ 85%). Hypoplastic left heart syndrome, spina bifida, Hirschsprung’s disease, omphalocele and cleft palate showed high sensitivity (≥ 85%), but low or heterogeneous PPV, indicating that hospital data was complete but may contain false positives. The remaining anomaly subgroups in our study, showed low or heterogeneous sensitivity and PPV, indicating that the information in the hospital database was incomplete and of variable validity. Electronic health care databases cannot replace CA registries, although they can be used as an additional ascertainment source for CA registries. CA registries are still the most appropriate data source to study the epidemiology of CAs

Genomic characterization of malignant progression in neoplastic pancreatic cysts

Intraductal papillary mucinous neoplasms (IPMNs) and mucinous cystic neoplasms (MCNs) are non-invasive neoplasms that are often observed in association with invasive pancreatic cancers, but their origins and evolutionary relationships are poorly understood. In this study, we analyze 148 samples from IPMNs, MCNs, and small associated invasive carcinomas from 18 patients using whole exome or targeted sequencing. Using evolutionary analyses, we establish that both IPMNs and MCNs are direct precursors to pancreatic cancer. Mutations in SMAD4 and TGFBR2 are frequently restricted to invasive carcinoma, while RNF43 alterations are largely in non-invasive lesions. Genomic analyses suggest an average window of over three years between the development of high-grade dysplasia and pancreatic cancer. Taken together, these data establish non-invasive IPMNs and MCNs as origins of invasive pancreatic cancer, identifying potential drivers of invasion, highlighting the complex clonal dynamics prior to malignant transformation, and providing opportunities for early detection and intervention

Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis

Osteoarthritis is one of the most frequent and disabling diseases of the elderly. Only few genetic variants have been identified for osteoarthritis, which is partly due to large phenotype heterogeneity. To reduce heterogeneity, we here examined cartilage thickness, one of the structural components of joint health. We conducted a genome-wide association study of minimal joint space width (mJSW), a proxy for cartilage thickness, in a discovery set of 13,013 participants from five different cohorts and replication in 8,227 individuals from seven independent cohorts. We identified five genome-wide significant (GWS, P≤5·0×10−8) SNPs annotated to four distinct loci. In addition, we found two additional loci that were significantly replicated, but results of combined meta-analysis fell just below the genome wide significance threshold. The four novel associated genetic loci were located in/near TGFA (rs2862851), PIK3R1 (rs10471753), SLBP/FGFR3 (rs2236995), and TREH/DDX6 (rs496547), while the other two (DOT1L and SUPT3H/RUNX2) were previously identified. A systematic prioritization for underlying causal genes was performed using diverse lines of evidence. Exome sequencing data (n = 2,050 individuals) indicated that there were no rare exonic variants that could explain the identified associations. In addition, TGFA, FGFR3 and PIK3R1 were differentially expressed in OA cartilage lesions versus non-lesioned cartilage in the same individuals. In conclusion, we identified four novel loci (TGFA, PIK3R1, FGFR3 and TREH) and confirmed two loci known to be associated with cartilage thickness.The identified associations were not caused by rare exonic variants. This is the first report linking TGFA to human OA, which may serve as a new target for future therapies

Effects of antiplatelet therapy on stroke risk by brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases: subgroup analyses of the RESTART randomised, open-label trial

Background Findings from the RESTART trial suggest that starting antiplatelet therapy might reduce the risk of recurrent symptomatic intracerebral haemorrhage compared with avoiding antiplatelet therapy. Brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases (such as cerebral microbleeds) are associated with greater risks of recurrent intracerebral haemorrhage. We did subgroup analyses of the RESTART trial to explore whether these brain imaging features modify the effects of antiplatelet therapy