Getting health services right for 16-25 year-olds.

The 2019 NHS England Long Term Plan set out the ambition to work across the 0-25 age range to support children and young people as they make the transition to early adulthood. Within this broad age bracket, how do we ensure we get health services right for 16-25 year-olds including the transfer to adult services? In this paper, we explore the evidence supporting youth-friendly and developmentally appropriate healthcare approaches and what these mean in practice for young people and healthcare professionals. Examples from primary and secondary care, as well as the perspectives of a young person, illustrate the challenges and solutions.

Current practice in the diagnosis and management of sarcopenia and frailty - results from a UK-wide survey.

OBJECTIVES: Despite a rising clinical and research profile, there is limited information about how frailty and sarcopenia are diagnosed and managed in clinical practice. Our objective was to build a picture of current practice by conducting a survey of UK healthcare professionals. METHODS: We surveyed healthcare professionals in NHS organisations, using a series of four questionnaires. These focussed on the diagnosis and management of sarcopenia, and the diagnosis and management of frailty in acute medical units, community settings and surgical units. RESULTS: Response rates ranged from 49/177 (28%) organisations for the sarcopenia questionnaire to 104/177 (59%) for the surgical unit questionnaire. Less than half of responding organisations identified sarcopenia; few made the diagnosis using a recognised algorithm or offered resistance training. The commonest tools used to identify frailty were the Rockwood Clinical Frailty Scale or presence of a frailty syndrome. Comprehensive Geriatric Assessment was offered by the majority of organisations, but this included exercise therapy in less than half of cases, and medication review in only one-third to two-thirds of cases. CONCLUSIONS: Opportunities exist to improve consistency of diagnosis and delivery of evidence-based interventions for both sarcopenia and frailty.

Standard set of health outcome measures for older persons.

BACKGROUND: The International Consortium for Health Outcomes Measurement (ICHOM) was founded in 2012 to propose consensus-based measurement tools and documentation for different conditions and populations.This article describes how the ICHOM Older Person Working Group followed a consensus-driven modified Delphi technique to develop multiple global outcome measures in older persons. The standard set of outcome measures developed by this group will support the ability of healthcare systems to improve their care pathways and quality of care. An additional benefit will be the opportunity to compare variations in outcomes which encourages and supports learning between different health care systems that drives quality improvement. These outcome measures were not developed for use in research. They are aimed at non researchers in healthcare provision and those who pay for these services. METHODS: A modified Delphi technique utilising a value based healthcare framework was applied by an international panel to arrive at consensus decisions.To inform the panel meetings, information was sought from literature reviews, longitudinal ageing surveys and a focus group. RESULTS: The outcome measures developed and recommended were participation in decision making, autonomy and control, mood and emotional health, loneliness and isolation, pain, activities of daily living, frailty, time spent in hospital, overall survival, carer burden, polypharmacy, falls and place of death mapped to a three tier value based healthcare framework. CONCLUSIONS: The first global health standard set of outcome measures in older persons has been developed to enable health care systems improve the quality of care provided to older persons.

Best practice guidelines for the management of frailty: a British Geriatrics Society, Age UK and Royal College of General Practitioners report.

Older people are majority users of health and social care services in the UK and internationally. Many older people who access these services have frailty, which is a state of vulnerability to adverse outcomes. The existing health care response to frailty is mainly secondary care-based and reactive to the acute health crises of falls, delirium and immobility. A more proactive, integrated, person-centred and community-based response to frailty is required. The British Geriatrics Society Fit for Frailty guideline is consensus best practice guidance for the management of frailty in community and outpatient settings. RECOGNITION OF FRAILTY: The BGS recommends that all encounters between health and social care staff and older people in community and outpatient settings should include an assessment for frailty. A gait speed <0.8m/s; a timed-up-and-go test >10s; and a score of ≥3 on the PRISMA 7 questionnaire can indicate frailty. The common clinical presentations of frailty (falls, delirium, sudden immobility) can also be used to indicate the possible presence of frailty. MANAGEMENT OF FRAILTY: The BGS recommends an holistic medical review based on the principles of comprehensive geriatric assessment (CGA) for all older people identified with frailty. This will: diagnose medical illnesses to optimise treatment; apply evidence-based medication review checklists (e.g. STOPP/START criteria); include discussion with older people and carers to define the impact of illness; work with the older person to create an individualised care and support plan. SCREENING FOR FRAILTY: The BGS does not recommend population screening for frailty using currently available instruments.

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.

Chromosomal microarray (CMA) is the first-line diagnostic test for individuals with intellectual disability, autism, or multiple congenital anomalies, with a 10-20% diagnostic yield. An ongoing challenge for the clinician and laboratory scientist is the interpretation of variants of uncertain significance (VOUS)-usually rare, unreported genetic variants. Laboratories differ in their threshold for reporting VOUS, and clinical practice varies in how this information is conveyed to the family and what follow-up is arranged. Workflows, websites, and databases are constantly being updated to aid the interpretation of VOUS. There is a growing literature reporting new microdeletion and duplication syndromes, susceptibility, and modifier copy number variants (CNVs). Diagnostic methods are also evolving with new array platforms and genome builds. In 2010, high-resolution arrays (Affymetrix 2.7 M Oligo and SNP, 50 kB resolution) were performed on a community cohort of 67 individuals with intellectual disability of unknown aetiology. Three hundred and one CNVs were detected and analyzed using contemporary resources and a simple scoring system. Thirteen (19%) of the arrays were assessed as potentially pathogenic, 4 (6%) as benign and 50 (75%) of uncertain clinical significance. The CNV data were re-analyzed in 2012 using the contemporary interpretative resources. There was a statistically significant difference in the assessment of individual CNVs (P < 0.0001). An additional eight patients were reassessed as having a potentially pathogenic array (n = 21, 31%) and several additional susceptibility or modifier CNVs were identified. This study highlights the complexity involved in the interpretation of CMA and uniquely demonstrates how, even on the same array platform, it can be subject to change over time.

Transition to adult services.

The lack of focus on young people as a group with particular healthcare needs in medical training and the health service underpins the difficulty that we have experienced as a profession in improving transition in the UK. This article discusses current progress towards improving training in young people's health in the UK, the evidence base for transitional care in young people with chronic conditions with interventions that focus on staffing, service delivery and young people, a practice based approach for transitional care in young people with learning difficulties and complex needs, the need for monitoring and evaluation of transitional care, and the challenge of funding.

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder. In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by systematic and unbiased X chromosome exome resequencing.

Career choices of United Kingdom medical graduates of 2002: questionnaire survey.

OBJECTIVES: To report the specialty choices of UK medical graduates of 2002, and to compare their choices with those of qualifiers in previous years and with the profile of career grade doctors in different specialties in England. METHODS: We carried out a postal questionnaire survey in the UK and drew comparisons with official data for numbers of specialists. RESULTS: The response rate was 65.3% (2778/4257). A total of 22.7% of the medical graduates of 2002 (28.1% of women, 14.5% of men) expressed a preference for a longterm career in general practice, compared with 25.3% of 1999 and 2000 graduates combined. A total of 31.1% of men and 11.9% of women chose surgical specialties; 0.7% of men and 3.4% of women chose obstetrics and gynaecology; 3.4% of men and 7.9% of women chose paediatrics. There was a large mismatch between the percentage choosing each specialty group and the percentage of senior National Health Service doctors working in the same specialty group. In all, 71% of graduates regarded their career choice as definite or probable and 80% definitely or probably intended to pursue a longterm career in medicine in the UK, compared with 75% of qualifiers in 1999 and 2000. CONCLUSIONS: Career choices for general practice remain low: only 1 in 4 women and 1 in 7 men now choose general practice at this career stage. Very few men choose obstetrics and gynaecology, despite a recent increase in training opportunities. There is no evidence of an increase, compared with recent previous cohorts, in the percentage of junior doctors who do not want a longterm career in British medicine.

Nurse-led implementation of the single assessment process in primary care: a descriptive feasibility study.

OBJECTIVE: to determine the resources required to carry out the single assessment process in primary care. DESIGN: prospective descriptive study. SETTING: one urban primary care practice, Southampton. PARTICIPANTS: nine hundred and forty-four people aged 70+ years, registered with the practice, not living in a residential/nursing home, or terminally ill. INTERVENTION: participants were sent the six-item Sherbrooke questionnaire (case-finding tool). Non-responders were re-mailed after 4 weeks. All those scoring 4, 5 or 6 and a randomly selected half of those scoring 2 or 3 were offered overview assessment and comprehensive assessment as indicated by the Minimum Data Set for Home Care protocol. The nurse assessor identified unmet needs and agreed an action plan with participants. Another researcher conducted semi-structured interviews with a purposive sample of 26 participants to elicit their views of the process. MAIN OUTCOME MEASURES: response rates/scores of Sherbrooke questionnaire; numbers/characteristics of people requiring overview and comprehensive assessments; nature of resulting recommendations/referrals and impact on other agencies; resources required; views of service users. RESULTS: eight hundred and sixty-three (91%) participants replied. Five hundred and seven (54%) scored 2+, triggering an overview assessment, which was offered to 307. One hundred and twenty-four participants (40%) accepted; 64 (52%) had unmet needs (median 8 each, range 2-18), resulting in 34 referrals within the practice including four case conferences, and 21 to community/secondary health services. Few participants with a Sherbrooke score of 2 required comprehensive assessment. Users perceived the process as acceptable and useful, but not always relevant to their current needs. CONCLUSION: targeting those scoring 3+ on the Sherbrooke questionnaire (28% of sample) may improve the identification of patients who would benefit from further assessment. A contact approach rather than a case-finding one may improve the relevance of this process to older people.

Reasons why some UK medical graduates who initially choose psychiatry do not pursue it as a long-term career.

BACKGROUND: Some doctors who initially choose psychiatry do not pursue it as a long-term career. The study seeks to identify reasons for leaving psychiatry. METHOD: Postal questionnaire survey of UK medical graduates of 1988, 1993, 1996 and 1999 identified as having left psychiatry; for comparison, doctors who left general practice or trauma and orthopaedics. RESULTS: Response rate was 74% (572/778); 488 respondents satisfied study criteria (59 psychiatry, 318 general practice, 111 trauma and orthopaedics). The speciality's poor public image, perceived lack of respect from medical peers, perceived threat of violence from patients, under-resourcing and low morale were problems for psychiatry leavers. Job stress, self-assessed unsuitability, and concerns about the lack of evidence-based treatments also influenced decisions to leave psychiatry. CONCLUSIONS: Early exposure to psychiatry may help trainees assess their suitability. Negative perceptions of workforce issues (e.g. low morale) and of clinical issues (e.g. perceived lack of ability to improve prognosis) need addressing to increase retention.

Career choices for pathology: national surveys of graduates of 1974-2002 from UK medical schools.

In the past 10 years there has been increasing concern about recruitment of junior doctors into pathology, particularly histopathology, in the UK. In this study, we report on career choices for pathology, derived from postal questionnaire surveys of all qualifiers from all UK medical schools in nine qualification years since 1974. 74% (24,623/33,417) and 73% (20,709/28,468) of doctors responded at 1 and 3 years after qualification. The percentage of doctors choosing pathology 1 year after qualification has fallen sharply in recent years: between 1974 and 1983 it was 4.5% (95% confidence interval 4.1-4.9%) and between 1993 and 2002 it was 2.3% (CI 2.0-2.5%). 57% of doctors who chose pathology 1 year after qualification were still working in pathology at year 10. Hours and conditions of work, the doctor's personal assessment of their aptitudes, and their experience of the subject as a student influenced long-term career choices for pathology. Recruitment of UK graduates into the pathology specialties must increase to meet demand in the new and expanding subspecialties. This depends on developing innovative ways of raising the profile of pathology to medical students and junior hospital doctors.

Career choices for psychiatry: national surveys of graduates of 1974-2000 from UK medical schools.

BACKGROUND: Concerns continue about recruitment levels of junior doctors into psychiatry in the UK. AIMS: To report career choices for and career progression in psychiatry. METHOD: Postal questionnaire surveys of qualifiers from all UK medical schools in eight qualification years since 1974. RESULTS: Totals of 75% (21,845 out of 28,980) and 74% (17,741 out of 24,044) of doctors responded at one and three years after qualification. One and three years after qualification, 4-5% of doctors chose psychiatry. This has changed very little between 1974 and 2000. Most doctors who chose psychiatry one and three years after qualification were working in psychiatry at year 10. Hours and conditions of work, the doctor's personal assessment of their aptitudes and skills and their experience of the subject as a student influenced long-term career choices for psychiatry. CONCLUSIONS: Greater exposure to psychiatry for clinical students and in junior hospital jobs might improve recruitment.

Variation by medical school in career choices of UK graduates of 1999 and 2000.

OBJECTIVE: To report on how newly qualified doctors' specialty choices, and factors that influenced them, varied by medical school. DESIGN: Postal questionnaires. SETTING: United Kingdom. SUBJECTS: All doctors who graduated in the UK in 1999 and 2000. MAIN OUTCOME MEASURES: Choices of eventual career expressed 1 year after graduating, and factors influencing their choices. RESULTS: There were some significant differences between medical schools in the career choices made by their graduates. For example, the percentage of respondents who expressed the choice of general practice was significantly low among graduates of Oxford and Cambridge and high among graduates of Birmingham and Leicester. There was also significant variation between medical schools in choices for hospital medical and surgical specialties. There were significant differences, too, between medical schools in the extent to which career choices had been strongly influenced by graduates' inclinations before starting medical school and by their experience of their chosen specialty, particular teachers and departments at medical school. As well as the differences, however, there were also many similarities between the schools in graduates' career choices. DISCUSSION: Medical schools currently provide students with a broad training suited to any subsequent choice of specialty. We suggest that the similarities between schools in the career choices made by graduates are generally more striking than the differences. We raise the question of whether there should be any specialisation by individual schools to train students for careers in particular branches of medical practice.