Neurofibromatosis 1 (NF1) is a comparatively common autosomal dominant disorder. However, relatively few studies have assessed lifetime risk; and information about the effect of NF1 on mortality remains uncertain. NF1 patients were identified using The North West regional family Genetic Register, which covers the 4.1 million people living in North West England, including the regions of Greater Manchester, Cheshire and Cumbria. Data relating to tumours and malignancies were obtained from The North West Cancer Intelligence Service. Death data for the general North West population were obtained from the Office of National Statistics. We identified 1186 individuals with NF1, of whom 1023 lived within the strict regional boundaries (constituting a region of North West England bound by The Pennines to the east and Irish Sea to the west, but excluding the conurbation of Liverpool (Merseyside) and the Wirral peninsula) and 131 had died. MPNST and glioma were found to be the two most common causes of reduced life expectancy among NF1 patients. In Kaplan-Meier analyses the median survival for NF1 patients was shown to be 71.5 years, with women living ∼7.4 years longer than men. On average both men and women lived ∼8 years less than their counterparts in the general population. Reduction in life expectancy for NF1 patients was found to be much lower (8 years) than the previously estimated 15-year decrease. Limitations relating to the underreporting of NF1 on death certificates were once again highlighted and should be considered in future investigations.

Life expectancy for all five diseases was less than normal, although in recent years this reached the level of the local population in GS. Although there have been improvements in all conditions which may in part be attributable to better targeted care through the genetic register service, more needs to be done to address the very poor life expectancy in VHL.

ObjectivesImproving outcomes for older people with long-term conditions and multimorbidity is a priority. Current policy commits to substantial expansion of social prescribing to community assets, such as charity, voluntary or community groups. We use longitudinal data to add to the limited evidence on whether this is associated with better quality of life or lower costs of care.DesignProspective 18-month cohort survey of self-reported participation in community assets and quality of life linked to administrative care records. Effects of starting and stopping participation estimated using double-robust estimation.SettingParticipation in community asset facilities. Costs of primary and secondary care.Participants4377 older people with long-term conditions.InterventionParticipation in community assets.Primary and secondary outcome measuresQuality-adjusted life years (QALYs), healthcare costs and social value estimated using net benefits.ResultsStarting to participate in community assets was associated with a 0.017 (95% CI 0.002 to 0.032) gain in QALYs after 6 months, 0.030 (95% CI 0.005 to 0.054) after 12 months and 0.056 (95% CI 0.017 to 0.094) after 18 months. Cumulative effects on care costs were negative in each time period: £−96 (95% CI £−512 to £321) at 6 months; £−283 (95% CI £−926 to £359) at 12 months; and £−453 (95% CI £−1366 to £461) at 18 months. The net benefit of starting to participate was £1956 (95% CI £209 to £3703) per participant at 18 months. Stopping participation was associated with larger negative impacts of −0.102 (95% CI −0.173 to −0.031) QALYs and £1335.33 (95% CI £112.85 to £2557.81) higher costs after 18 months.ConclusionsParticipation in community assets by older people with long-term conditions is associated with improved quality of life and reduced costs of care. Sustaining that participation is important because there are considerable health changes associated with stopping. The results support the inclusion of community assets as part of an integrated care model for older patients.

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Background Social participation is linked to better health and well-being. However, there is limited research on the individual and area-level predictors of participation. This study aims to determine the characteristics associated with participation, particularly the impact of community asset availability. Methods We used data from 34 582 adult respondents to the nationally representative Community Life Survey from 2013 to 2018. We measured social participation by reported participation in 15 types of groups. We used probit and negative binomial regression models and included a wide range of individual, household and area characteristics, and availability of 14 types of community assets. Results The following characteristics were associated with higher levels of participation: being female (+3.0 percentage points (p.p.) (95% CI 1.8 to 4.1p.p.), Black, Asian or Minority Ethnicity (+3.7p.p. (1.9 to 5.5p.p.)), homeownership (+4.1 p.p. (2.7 to 5.6p.p.)) and living in a rural area (+2.1p.p. (0.5 to 3.6p.p)). Respondents from the most deprived areas were less likely to participate than those in average deprivation areas (−3.9p.p. (−5.9 to −1.99p.p.)). Higher availability of community assets was associated with increased participation in groups. The effect of availability on participation varied by type of asset. Conclusion Improving community assets infrastructure in high deprivation and urban areas would encourage more social participation in these areas.

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GUCY2D R838H Wilkie SE, Newbold RJ, Deery E et al: Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy.

Social participation is defined as an individual's involvement in activities that provide connections with others in the society or community (Aroogh & Shahboulaghi, 2020;Levasseur et al., 2010). This can be achieved by engaging in a specific activity or volunteering (Richard et al., 2013). Over the past decade, there has been renewed interest amongst health and local government agencies in the United Kingdom (UK) in policies to encourage social participation. Most recently, the National Health Service (NHS) England has introduced "social prescribing" programmes in family practitioner practices (Howarth et al., 2020). These social prescribing schemes involve patients being prescribed for attending social groups on top of, or as an alternative to, medical therapeutics. Slightly earlier, the Local Government Association issued guidance to encourage community engagement,