People with Intellectual Disabilities, Dysphagia and Post-Covid Syndrome.

People with Intellectual Disability (ID) were more likely to contract COVID-19 infection and more likely to die from the consequences. However, there is no evidence on the long-term impact of COVID-19 infection in people with ID. Post-Covid Syndrome (PCS) is an established diagnosis that requires specialist clinical support. To date there is no data on how common PCS is in people with ID, or how symptoms present. Dysphagia is identified as a clinical marker because of the known association with PCS, and the clear objective diagnostic criteria applicable through specialist assessment. This investigation presents a cohort of people with ID, who developed dysphagia/worsening of dysphagia post diagnosis with COVID-19. Cases were identified through support from the Royal College of Speech and Language Therapists. Data was collected by electronic survey, including application of the COVID-19 Yorkshire Rehabilitation Scale-modified (C19-YRSm). The C19-YRSm is a validated assessment tool for PCS and it's impact upon functional disability. This case series identifies that symptoms consistent with PCS are present in people with ID, post-COVID-19 infection. The risk of diagnostic overshadowing or misdiagnosis is high due to the subjective nature and the quality of PCS symptoms. People with ID who develop PCS may not be readily identified by clinical services and therefore not be accessing the specialist medical support required. Furthermore, changes in behaviour secondary to PCS may lead to unnecessary increased prescribing of psychotropic medication which in itself risks worsening dysphagia. Dysphagia could be an important bellwether to identify PCS in people with ID.

Online social connections and Internet use among people with intellectual disabilities in the United Kingdom during the COVID-19 pandemic.

Having a disability, in particular, an intellectual disability, is associated with Internet non-use. This article explores how people with intellectual disabilities used the Internet across the United Kingdom during the COVID-19 pandemic. In April to May 2021, 571 adults with intellectual disabilities were interviewed. Participants most commonly used the Internet for being with family and friends, social media or doing online activities with other people. People who lived with family were the most likely to use social media; people who lived with other people with intellectual disabilities were the least likely. People who self-reported as not lonely were more likely to use the Internet for online activities with others and play video games with others. Social connections were identified as the best thing about the Internet. Many participants chose not to identify a worst thing about Internet use, while others reported issues with technology, online harm and threats to well-being.

Establishing a national mortality review programme for people with intellectual disabilities: The experience in England.

In England, the national mortality review programme for people with intellectual disabilities, the LeDeR programme, was established in 2015. The programme supports local areas to review the deaths of all people with intellectual disabilities aged 4 years and over. Each death has an initial review; if indicated, a full multi-agency review takes place. The learning from the mortality reviews contributes to service improvements locally and nationally. This paper describes the programme's introduction and processes, exploring the challenges faced, and the successes achieved. It considers the background and rationale for the programme and the steps taken during its implementation, in order that others can learn from our experiences. Now the programme is established, its focus needs to shift so that we have a better understanding about how the findings of mortality reviews are leading to local and national service improvements and their impact.

Deaths of people with intellectual disabilities: Analysis of deaths in England from COVID-19 and other causes.

BACKGROUND: People with intellectual disabilities experience significant health inequities. The aim of this report is to understand the circumstances leading to death from COVID-19 in people with intellectual disabilities. METHOD: Local areas in England prioritised reviewing 200 deaths of adults with intellectual disabilities. Of these, approximately 80% were required to be deaths from suspected or confirmed COVID-19 as this was the focus of the study; the remainder from other causes. All deaths occurred between 2 March2020 and 9 June 2020. RESULTS: People with intellectual disabilities differed from the general population in their symptoms of COVID-19 and age at death. The overall quality of care was rated similar to other deaths of people with intellectual disabilities. Concerns were raised relating to recognising acute deterioration and do not attempt cardio-pulmonary resuscitation decisions. CONCLUSIONS: Service improvements are indicated in the ways in which people with intellectual disabilities encounter COVID-19 and experience the disease.

Disabled people's experiences of accessing reasonable adjustments in hospitals: a qualitative study.

BACKGROUND: The UK Equality Act 2010 requires providers of health services to make changes or 'reasonable adjustments' to their practices in order to protect disabled people from discrimination or disadvantage when accessing care. Existing evidence suggests that despite this legislation, health services are not always providing reasonably adjusted care for disabled people. This paper presents the perspectives of disabled people themselves in relation to their experiences of accessing reasonable adjustments in hospitals in England. METHODS: Twenty-one semi-structured interviews were held with disabled people who had a recent experience of hospital care in England. Participants were asked about the extent to which the hospital provided reasonably adjusted care, and if necessary, how they thought the provision of reasonable adjustments could be improved. Each interview was anonymised and transcribed, and the data analysed using thematic analysis. RESULTS: Participants reported mixed experiences about whether and how reasonable adjustments were provided: some shared positive examples of good practice; others spoke about difficult encounters and limited provision. Recommendations made include a need for culture change in how reasonable adjustments are perceived and enacted; improvements in identifying the needs of disabled people; improvements to the hospital environment and the provision of information; and the need to involve disabled people themselves in the process of change. CONCLUSIONS: Gaps remain in how reasonable adjustments are provided for disabled people accessing hospital care. It is important for hospital staff to listen to the perspectives of disabled people about the provision of reasonable adjustments, and make improvements as necessary. Hospital staff could also do more to share good practice in relation to the provision of reasonable adjustments to effectively inspire and embed positive change.

Medical Certificates of Cause of Death for people with intellectual disabilities: A systematic literature review.

BACKGROUND: Mortality studies can help reduce health inequalities by informing public policy through a better understanding of causes of death and comorbidities. Mortality studies often rely on Medical Certificates of Cause of Death (MCCD) for data. METHOD: A systematic review was undertaken to identify the extent and nature of issues in recording causes of death for people with intellectual disability on MCCD. RESULTS: Fifteen of the 25 articles included in the literature review raised concerns about the accuracy of MCCD in identifying the cause(s) of death of people with intellectual disability. The most frequent issues were the under-reporting of intellectual disability on MCCD, and listing intellectual disability or an associated condition as an underlying cause of death. CONCLUSIONS: Concerns about the accuracy and reliability of MCCD for people with intellectual disability raise questions about mortality data based on MCCD. Clear guidance is required from WHO for those completing MCCD for people with intellectual disability.

The Confidential Inquiry into premature deaths of people with intellectual disabilities in the UK: a population-based study.

BACKGROUND: The Confidential Inquiry into premature deaths of people with intellectual disabilities in England was commissioned to provide evidence about contributory factors to avoidable and premature deaths in this population. METHODS: The population-based Confidential Inquiry reviewed the deaths of people with intellectual disabilities aged 4 years and older who had been registered with a general practitioner in one of five Primary Care Trust areas of southwest England, who died between June 1, 2010, and May 31, 2012. A network of health, social-care, and voluntary-sector services; community contacts; and statutory agencies notified the Confidential Inquiry of all deaths of people with intellectual disabilities and provided core data. The Office for National Statistics provided data about the coding of individual cause of death certificates. Deaths were described as avoidable (preventable or amenable), according to Office for National Statistics definitions. Contributory factors to deaths were identified and quantified by the case investigator, verified by a local review panel meeting, and agreed by the Confidential Inquiry overview panel. Contributory factors were grouped into four domains: intrinsic to the individual, within the family and environment, care provision, and service provision. The deaths of a comparator group of people without intellectual disabilities but much the same in age, sex, and cause of death and registered at the same general practices as those with intellectual disabilities were also investigated. FINDINGS: The Confidential Inquiry reviewed the deaths of 247 people with intellectual disabilities. Nearly a quarter (22%, 54) of people with intellectual disabilities were younger than 50 years when they died, and the median age at death was 64 years (IQR 52-75). The median age at death of male individuals with intellectual disabilities was 65 years (IQR 54-76), 13 years younger than the median age at death of male individuals in the general population of England and Wales (78 years). The median age at death of female individuals with intellectual disabilities was 63 years (IQR 54-75), 20 years younger than the median age at death for female individuals in the general population (83 years). Avoidable deaths from causes amenable to change by good quality health care were more common in people with intellectual disabilities (37%, 90 of 244) than in the general population of England and Wales (13%). Contributory factors to premature deaths in a subset of people with intellectual disabilities compared with a comparator group of people without intellectual disabilities included problems in advanced care planning (p=0·0003), adherence to the Mental Capacity Act (p=0·0008), living in inappropriate accommodation (p<0·0001), adjusting care as needs changed (p=0·009), and carers not feeling listened to (p=0·006). INTERPRETATION: The Confidential Inquiry provides evidence of the substantial contribution of factors relating to the provision of care and health services to the health disparities between people with and without intellectual disabilities. It is imperative to examine care and service provision for this population as potentially contributory factors to their deaths--factors that can largely be ameliorated. FUNDING: Department of Health for England.

Unwinding of primer-templates by archaeal family-B DNA polymerases in response to template-strand uracil.

Archaeal family-B DNA polymerases bind tightly to deaminated bases and stall replication on encountering uracil in template strands, four bases ahead of the primer-template junction. Should the polymerase progress further towards the uracil, for example, to position uracil only two bases in front of the junction, 3'-5' proof-reading exonuclease activity becomes stimulated, trimming the primer and re-setting uracil to the +4 position. Uracil sensing prevents copying of the deaminated base and permanent mutation in 50% of the progeny. This publication uses both steady-state and time-resolved 2-aminopurine fluorescence to show pronounced unwinding of primer-templates with Pyrococcus furiosus (Pfu) polymerase-DNA complexes containing uracil at +2; much less strand separation is seen with uracil at +4. DNA unwinding has long been recognized as necessary for proof-reading exonuclease activity. The roles of M247 and Y261, amino acids suggested by structural studies to play a role in primer-template unwinding, have been probed. M247 appears to be unimportant, but 2-aminopurine fluorescence measurements show that Y261 plays a role in primer-template strand separation. Y261 is also required for full exonuclease activity and contributes to the fidelity of the polymerase.

Mortality of People with Intellectual Disabilities in England: A Comparison of Data from Existing Sources.

BACKGROUND: At present, there is limited statistical information about mortality of people with intellectual disabilities in England. This study explores the data that are currently available. MATERIALS AND METHODS: Four recent sources of data about mortality of people with intellectual disabilities in England are reviewed: the Confidential Inquiry into Premature Deaths of People with intellectual disabilities (CIPOLD); the 2013 Joint Health and Social Care Intellectual Disability Self-assessment Exercise; local registers of people with intellectual disability; and analysis of Cause of Death certificates. RESULTS: Available data confirm that people with intellectual disability have a shorter lifespan and increased risk of early death when compared with the general population. The standardized mortality rate for people with intellectual disabilities is approximately twice that of the general population in England, with little indication of any reduction in this over time. CONCLUSIONS: Comprehensive data about mortality of people with intellectual disabilities that take account of the age and sex distribution of the population are currently lacking in England. Existing data suggest persistent inequalities between people with intellectual disabilities and the general population. There is an urgent need for better monitoring mechanisms and actions to address these.

Mortality in People with Intellectual Disabilities.

This paper reviews why an understanding of mortality data in general, and in relation to people with intellectual disabilities in particular, is an important area of concern, and introduces the papers in this Special Edition.

Effective support for those who are "hard to engage": a qualitative user-led study.

BACKGROUND: Up to 30% of people with mental health problems drop out of contact with mental health services with negative implications for continuity of care. Services with an assertive outreach approach aim to sustain engagement. AIMS: This study explored the perceptions and needs of people often described as "hard to engage" in order to understand more about how services can best support them. METHODS: This was a service user led qualitative study involving participants with serious mental health problems. Interviews were held with 33 people using assertive outreach or voluntary sector services and 15 people who had disengaged from services. Data were analysed for emergent themes. RESULTS: Relationships with staff were central to maintaining engagement with services. Almost all participants wanted help for their problems, and preferred services that responded to their priorities and offered practical support with everyday living. Negative perceptions of inpatient care were common, and a focus on medication put many participants off mental health services. Many participants were not receiving support for the full range of their complex needs. CONCLUSIONS: Difficulties in sustaining engagement with mental health services does not necessarily mean that people do not want help. Participants were intolerant of service-determined priorities.

Self-reported explanations for self-injury by people with intellectual disabilities: a systematic review of qualitative studies.

Background: Emotional distress has received less attention as an explanatory factor for self-injury in people with intellectual disabilities, with research and practice primarily focusing on biobehavioural factors. This systematic review examines the self-reported explanations for self-injury by people with mild or moderate intellectual disabilities, and discusses how the findings contrast with those from self-reported studies of people within the general population who self-harm. Methods: Five databases (PsychINFO, IBSS, CINAHL, Web of Science and Medline) were systematically searched to find qualitative, empirical research since 2000 about self-reported reasons for self-injury. Results: Four studies were found which conducted research with people with intellectual disabilities. Three primary themes are discussed: relief from overwhelming emotions; trauma and loss; and difficulty in articulating emotions. Conclusion: This review found a paucity of research asking people with intellectual disabilities about their own self-injury. However, the research available suggests that explanatory factors for self-injury typically reported in the general population should be considered for those with mild or moderate intellectual disabilities.

Cancer in deceased adults with intellectual disabilities: English population-based study using linked data from three sources.

OBJECTIVE: To improve our understanding of cancer in adults with intellectual disabilities. DESIGN: Population-based study using linked data about deceased adults from the Learning (Intellectual) Disabilities Mortality Review (LeDeR) programme, the national cancer registry and NHS Digital. SETTING: England. PARTICIPANTS: 1096 adults with intellectual disabilities identified by the LeDeR programme who died between 1 January 2017 and 31 December 2019. OUTCOME MEASURE: Any form of cancer listed as a long-term health condition by a LeDeR reviewer or 10th edition of the International Classification of Diseases codes C00-D49 included on Parts I or II of the Medical Certificate of Cause of Death. RESULTS: In decedents with intellectual disabilities and cancer, more than a third (35%; n=162) had cancer diagnosed via emergency presentations. Almost half (45%; n=228) of cancers were at stage IV when diagnosed. More than a third (36%; n=309) of underlying causes of deaths were of cancers of the digestive system; almost half of these (48%; n=147) were cancer of the colon, rectum or anus. Of those who died with colorectal cancer, 43% were below the age threshold for colorectal screening. CONCLUSIONS: In decedents with intellectual disabilities, symptoms suggestive of cancer had tended to be identified most frequently as an emergency and at a late stage. There is a need for greater awareness of symptoms of cancer in this population, a lower threshold for referral by General Practitioners (GPs), accelerated access to diagnosis and treatment and consideration paid to lowering the age for colorectal screening.

Mellow Futures - An adapted parenting programme for mothers with learning difficulties in England and Scotland. Professionals' views on the outcomes.

The Mellow Futures programme is a specially adapted parenting programme for mothers with learning difficulties that combines group work with home-based support. This paper reports on the findings of prospective and retrospective interviews with professionals who had referred mothers to the programme in England or Scotland between 2013 and 2015. The aim was to explore their perceptions of the programme as a whole, and its impact on the mothers they had referred to it. Mothers attending the Mellow Futures programme were invited to consent for a key professional to be contacted as part of the evaluation, generally those social workers who had referred the mothers to the programme. The 'referrers' were interviewed at the start and end of the programme. Thirty referrers contributed their views on the impact of the programme. Twenty-six were very positive about the impact of the Mellow Futures programme on the mothers: the programme was thought to have increased the mothers' confidence and self-esteem; supported them to work through issues; and helped them strengthen their relationship-building skills. Four referrers felt that the programme had not had any impact on the mothers they were supporting. The Mellow Futures programme focused on relationships, rather than parenting techniques, and three fundamentally important relationships in the mothers and babies' lives were targeted: the relationship/attachment between mother and baby; the supportive, ongoing relationships between the mothers in the group; and the mothers' more positive engagement with the professionals concerned with the welfare of their baby. The research confirms that, from the perspectives of referrers, linking group and home-based support can successfully help mothers with learning difficulties to care for their children.

Probing the interaction of archaeal DNA polymerases with deaminated bases using X-ray crystallography and non-hydrogen bonding isosteric base analogues.

Archaeal family-B DNA polymerases stall replication on encountering the pro-mutagenic bases uracil and hypoxanthine. This publication describes an X-ray crystal structure of Thermococcus gorgonarius polymerase in complex with a DNA containing hypoxanthine in the single-stranded region of the template, two bases ahead of the primer-template junction. Full details of the specific recognition of hypoxanthine are revealed, allowing a comparison with published data that describe uracil binding. The two bases are recognized by the same pocket, in the N-terminal domain, and make very similar protein-DNA interactions. Specificity for hypoxanthine (and uracil) arises from a combination of polymerase-base hydrogen bonds and shape fit between the deaminated bases and the pocket. The structure with hypoxanthine at position 2 explains the stimulation of the polymerase 3'-5' proofreading exonuclease, observed with deaminated bases at this location. A beta-hairpin element, involved in partitioning the primer strand between the polymerase and exonuclease active sites, inserts between the two template bases at the extreme end of the double-stranded DNA. This denatures the two complementary primer bases and directs the resulting 3' single-stranded extension toward the exonuclease active site. Finally, the relative importance of hydrogen bonding and shape fit in determining selectivity for deaminated bases has been examined using nonpolar isosteres. Affinity for both 2,4-difluorobenzene and fluorobenzimidazole, non-hydrogen bonding shape mimics of uracil and hypoxanthine, respectively, is strongly diminished, suggesting polar protein-base contacts are important. However, residual interaction with 2,4-difluorobenzene is seen, confirming a role for shape recognition.

Uracil recognition by replicative DNA polymerases is limited to the archaea, not occurring with bacteria and eukarya.

Family B DNA polymerases from archaea such as Pyrococcus furiosus, which live at temperatures approximately 100 degrees C, specifically recognize uracil in DNA templates and stall replication in response to this base. Here it is demonstrated that interaction with uracil is not restricted to hyperthermophilic archaea and that the polymerase from mesophilic Methanosarcina acetivorans shows identical behaviour. The family B DNA polymerases replicate the genomes of archaea, one of the three fundamental domains of life. This publication further shows that the DNA replicating polymerases from the other two domains, bacteria (polymerase III) and eukaryotes (polymerases delta and epsilon for nuclear DNA and polymerase gamma for mitochondrial) are also unable to recognize uracil. Uracil occurs in DNA as a result of deamination of cytosine, either in G:C base-pairs or, more rapidly, in single stranded regions produced, for example, during replication. The resulting G:U mis-pairs/single stranded uracils are promutagenic and, unless repaired, give rise to G:C to A:T transitions in 50% of the progeny. The confinement of uracil recognition to polymerases of the archaeal domain is discussed in terms of the DNA repair pathways necessary for the elimination of uracil.

The impact of the national clinical outcome review programmes in England: a review of the evidence.

BACKGROUND: There is a lack of evidence about the effectiveness of the national clinical outcome review programmes in England. METHODS: We undertook a scoping review of the published literature for evidence of the impact of any of the current programmes or their predecessors, and asked programme leads to share examples of the impact of their work. Data were thematically analysed. FINDINGS: Evidence about impact related to clinicians' awareness and practice, structural aspects of healthcare, processes of care and patient outcomes. CONCLUSIONS: The national clinical outcome review programmes appear to have had significant impact, but none are funded to assess the outcome and impact of the recommendations they make or to deliver a programme of change. There is no structured and systematic way in which the findings and recommendations of each programme are taken forward, nor in which the findings from across programmes are collated and considered.

Implementing reasonable adjustments for -disabled people in healthcare services.

Disabled people are one of the groups in society with the greatest health needs, yet they experience some of the most significant barriers to accessing healthcare services. This article describes examples of how three healthcare services have met the Equality Act 2010 duty to make reasonable adjustments for disabled people, so that they are not disadvantaged in accessing these services. Each of these services identified disabled patients, and considered and recorded the specific reasonable adjustments that were required. In doing so, they took time to fully understand the needs of the individual from their perspective. The services collaborated and coordinated the provision of reasonably adjusted care by communicating effectively with other health and social care providers, working together as a team, and treating disabled people as individuals.