Body composition and metabolism in adults with molecularly-confirmed Silver-Russell syndrome.

CONTEXT: Low birth weight, as seen in Silver-Russell syndrome (SRS), is associated with later cardiometabolic disease. Data on long term outcomes and adult body composition in SRS are limited. OBJECTIVE: To evaluate body composition and metabolic health in adults with SRS. DESIGN: This was an observational study. Body composition and metabolic health were assessed at a single appointment. Individuals with SRS were compared with unaffected men and women (from the Southampton Women's Survey (SWS)). SETTING: Clinical research facilities across the UK. PARTICIPANTS: 25 individuals with molecularly-confirmed SRS aged ≥18 years. MAIN OUTCOME MEASURES: Fat mass, lean mass, bone mineral density (BMD), blood pressure, lipids, and blood glucose were measured. RESULTS: 25 adults with SRS were included (52% female). The median age was 32.9 years (range 22.0-69.7). Fat percentage was greater in the SRS group than the SWS cohort (44.1% vs 30.3%, p<0.001). Fat mass index was similar (9.6 vs 7.8, p=0.3). Lean mass percentage (51.8% vs 66.2%, p<0.001) and lean mass index (13.5 kg/m2 vs 17.3 kg/m2, p<0.001) were lower in the SRS group than the SWS cohort. BMD was lower in the SRS group than the SWS cohort (1.08 vs 1.24, p<0.001) (all median values). Total cholesterol was ≥5mmol/L in 52.0%. Triglyceride levels were ≥1.7mmol/L in 20.8%. Fasting blood glucose levels were ≥6.1mmol/L in 25.0%. Hypertension was present in 33.3%. CONCLUSIONS: Adults with SRS have an unfavourable body composition and predisposition to cardiometabolic disease. These results support the need for a health surveillance strategy to mitigate adverse outcomes.

A case study of the impact of a dietitian in the multi-disciplinary team within primary care: a service evaluation.

BACKGROUND: Expanding the primary care workforce to alleviate general practitioner (GP) workload, improve access and improve quality of care is a current UK strategy. Evidence suggests dietitians can improve patient outcomes and make cost savings. The present study aimed to evaluate a dietitian working as an expert generalist and first contact practitioner (FCP) in a general practice multi-disciplinary team (MDT) to provide appropriate care to patients and reduce GP workload. METHODS: A dietitian was employed for 6 months at 0.6 full-time equivalents in a group of general practices in Devon, UK. Data were collected on the referral source, patient satisfaction, health outcomes and changes in prescribing data for all patients seen by the dietitian. Focus groups and interviews provided data to understand the experience of introducing a dietitian into the team. RESULTS: This model of service delivery showed the dietitian acting as an expert generalist, a FCP and able to educate the MDT. A range of professionals within the MDT referred patients with a wide range of diagnoses (both paediatric and adults) and the dietitian acted as a FCP for 29% of patients. Saving were made for the optimisation of medicine management. CONCLUSIONS: The dietitian can improve patient-centred care for several patient groups; enhance learning for staff around nutrition and dietary issues; and contribute to more efficient working and cost savings around prescription of nutritional products. This was an evaluation of one service and further research is needed to understand the value dietitians can contribute and the factors supporting effective and efficient working in this context.

Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.

OBJECTIVE: Silver-Russell syndrome (SRS) causes short stature. Growth hormone (GH) treatment aims to increase adult height. However, data are limited on the long-term outcomes of GH in patients with molecularly confirmed SRS. This study evaluated height, body mass index (BMI) and GH treatment in molecularly confirmed SRS. DESIGN: An observational study with retrospective data collection. PATIENTS: Individuals with molecularly confirmed SRS aged ≥13 years. MEASUREMENTS: Data were collected on height, height gain (change in height standard deviation score [SDS] from childhood to final or near-final height), BMI and gain in BMI (from childhood to adulthood) and previous GH treatment. RESULTS: Seventy-one individuals (40 female) were included. The median age was 22.0 years (range 13.2-69.7). The molecular diagnoses: H19/IGF2:IG-DMR LOM in 80.3% (57/71); upd(7)mat in 16.9% (12/71) and IGF2 mutation in 2.8% (2/71). GH treatment occurred in 77.5% (55/71). Total height gain was greater in GH-treated individuals (median 1.53 SDS vs. 0.53 SDS, p = .007), who were shorter at treatment initiation (-3.46 SDS vs. -2.91 SDS, p = .04) but reached comparable heights to GH-untreated individuals (-2.22 SDS vs. -2.74 SDS, p = .7). In GH-treated individuals, BMI SDS was lower at the most recent assessment (median -1.10 vs. 1.66, p = .002) with lower BMI gain (2.01 vs. 3.58, p = .006) despite similar early BMI SDS to GH-untreated individuals (median -2.65 vs. -2.78, p = .3). CONCLUSIONS: These results support the use of GH in SRS for increasing height SDS. GH treatment was associated with lower adult BMI which may reflect improved metabolic health even following discontinuation of therapy.

Impact of a dietitian in general practice: Care of the frail and malnourished.

BACKGROUND: There is an increased demand in primary healthcare but general practitioner (GP) numbers are declining, creating significant challenges. Dietitians are ideal professionals to lead the treatment of patients with conditions that are amenable to dietary manipulation, including the management of malnutrition and frailty. The present study evaluated the benefits of a model of care in which a dietitian, working as a first contact practitioner within a general practice, provided care to patients at risk of malnutrition and frailty, aiming to reduce GP workload, improve patient care and make cost savings. METHODS: A service evaluation with a dietitian employed 6 h per week for 6 months. The practice database was screened for patients aged ≥65 years and electronic Frailty index 0.26-0.36 or body mass index <19 kg m-2 . These patients were triaged by the dietitian and those at risk of malnutrition offered consultations. Patients prescribed oral nutritional supplements (ONS) and not under dietetic management were also seen. RESULTS: Approximately 1200 patients met the screening criteria; 189 (16%) patients were triaged by the dietitian. Most (75%) were at risk of malnutrition and 63 of these were seen. Improvements in strength, frailty and nutrition status were observed, and changes to ONS prescriptions in 27 patients equated to annual cost savings of £15,379. Patient satisfaction was high. CONCLUSIONS: Dietitians, acting as first contact practitioners, can deliver significant improvements in care for older people at risk of malnutrition and frailty as part of the practice multi-disciplinary team. Cost savings for ONS were made and other potential cost saving were evident.

Experiences of adolescents living with Silver-Russell syndrome.

OBJECTIVE: The psychosocial impact of growing up with Silver-Russell syndrome (SRS), characterised by growth failure and short stature in adulthood, has been explored in adults; however, there are no accounts of contemporary lived experience in adolescents. Such data could inform current healthcare guidance and transition to adult services. We aimed to explore the lived experience of adolescents with SRS. DESIGN/SETTING/PATIENTS: In-depth, semi-structured interviews were conducted between January 2015 and October 2016 with a sample of eight adolescents aged 13-18 (five girls) with genetically confirmed SRS from the UK. Qualitative interviews were transcribed and coded to identify similarities and differences using thematic analysis; codes were then grouped to form overarching themes. RESULTS: We identified four themes from the interview data: (1) the psychosocial challenges of feeling and looking different; (2) pain, disability and fatigue; (3) anticipated stigma; and (4) building resilience and acceptance. Despite adolescents accepting SRS in their lives, they described ongoing psychosocial challenges and anticipated greater problems to come, such as stigma from prospective employers. CONCLUSIONS: Adolescents with SRS may experience psychosocial difficulties from as young as 10 years old related to feeling and looking different; pain, disability and fatigue; anticipated stigma; and future challenges around employment. We discuss these findings in relation to recommendations for the care of adolescents with SRS to prepare them for adult life.

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.

BACKGROUND: Silver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that may be ameliorated by treatment. Approximately 50% of patients have loss of methylation of the imprinting control region (H19/IGF2:IG-DMR) on 11p15.5 and 5%-10% have maternal uniparental disomy of chromosome 7. Most published research focuses on the childhood phenotype. Our aim was to describe the phenotypic characteristics of older patients with SRS. METHODS: A retrospective cohort of 33 individuals with a confirmed molecular diagnosis of SRS aged 13 years or above were carefully phenotyped. RESULTS: The median age of the cohort was 29.6 years; 60.6% had a height SD score (SDS) ≤-2 SDS despite 70% having received growth hormone treatment. Relative macrocephaly, feeding difficulties and a facial appearance typical of children with SRS were no longer discriminatory diagnostic features. In those aged ≥18 years, impaired glucose tolerance in 25%, hypertension in 33% and hypercholesterolaemia in 52% were noted. While 9/33 accessed special education support, university degrees were completed in 40.0% (>21 years). There was no significant correlation between quality of life and height SDS. 9/25 were parents and none of the 17 offsprings had SRS. CONCLUSION: Historical treatment regimens for SRS were not sufficient for normal adult growth and further research to optimise treatment is justified. Clinical childhood diagnostic scoring systems are not applicable to patients presenting in adulthood and SRS diagnosis requires molecular confirmation. Metabolic ill-health warrants further investigation but SRS is compatible with a normal quality of life including normal fertility in many cases.

Managing Paediatric Growth Disorders: Integrating Technology Into a Personalised Approach

Long-term growth management can be challenging for patients, families and healthcare professionals (HCP). Personalised optimal responses to growth hormone (GH) therapy depend on the creation of a good working relationship between the patient and family and the HCPs responsible for care. Current unmet needs in growth management will be discussed, focusing on the likelihood of a poor growth response and its identification and management with emphasis on the importance of good adherence to GH therapy. Digital tools are now available to record injections and communicate accurate adherence data to the HCP and patient. Psychological barriers to good adherence will be covered, with techniques identified to change behaviour and improve outcome. Motivational interviewing is a valuable skill in this respect and should be taught to both medical and nursing HCPs to enhance the quality of the relationship with the patient and family. Key messages are, firstly, the importance of personalised care with the HCP using acquired psychological skills to prevent and manage poor adherence. Secondly, a human-eHealth partnership is necessary to maximise the benefit of new digital tools to aid in successful growth management.

The 'Reality of Revalidation in Practice' (RRiP) project - Experiences of registrants and preparation of students in nursing and midwifery in the United Kingdom: A descriptive exploratory survey.

BACKGROUND: Renewal of healthcare registration or license to practise is becomingly increasingly common, worldwide. Evidence regarding the experience of nursing and midwifery revalidation in the United Kingdom is limited. Preparation of students for the process has not yet been considered in the literature. OBJECTIVES: To explore registrants' experiences of undertaking or supporting colleagues through revalidation. To consider preparation of pre-registration students for this future professional requirement. DESIGN: A descriptive exploratory study comprising an on-line survey. SETTING: A university in the southwest of England and associated clinical placements. PARTICIPANTS: Nursing and Midwifery Council registrants, comprising 40 university staff and 40 clinicians; 36 pre-registration nursing and midwifery students. METHODS: Participation in an anonymous on-line survey was invited via university databases. Descriptive statistical analysis of quantitative data used a combination of software and manual methods. Qualitative data were manually coded and categorised into themes through inductive reasoning. FINDINGS: Most experiences of revalidation were positive. Reflective discussions resulted in mutual learning, particularly if partners were chosen by the registrant. External scrutiny was welcomed. Some registrants questioned involvement of line managers and alignment with performance review, seeking to avoid a 'tick-box exercise' and conflicts of interest. University staff felt better prepared and more positive than clinicians. Pre-registration curriculum activities preparing students included writing reflections, maintaining portfolios, practice assessment and discussions about the revalidation process. Midwifery students seemed better prepared than nursing peers. Key themes of 'Professional values', 'Preparation', 'Process' and 'Purpose' and a range of positive influences and potential hazards informed development of a conceptual model. CONCLUSIONS: The purpose and process of revalidation is enhanced if confirmation is undertaken by a registered nurse or midwife of the individual's choice. Preparation of students for future revalidation is facilitated by role-modelling of positive attitudes and explicitly linking relevant pre-registration curriculum activities to this process and purpose.

Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood.

OBJECTIVE: There is limited information on the psychosocial impact of growing up with Silver-Russell syndrome (SRS), characterised by slow growth in utero leading to short stature in adulthood. Such information could aid families in making difficult treatment decisions and guide management strategies for health professionals. We aimed to explore the lived experience of people with SRS across the lifespan. DESIGN/SETTING/PATIENTS: In-depth, semi-structured interviews were conducted between January 2015 and October 2016 with a sample of 15 adults (six women) with genetically confirmed SRS from the UK. Qualitative interviews were transcribed and coded to identify similarities and differences: codes were then grouped to form overarching themes. RESULTS: Four themes were identified from participant accounts: (1) appearance-related concerns extending beyond height; (2) strategies to deal with real and perceived threats; (3) women's experiences of pain, disability and feeling older than their years; and (4) feeling overlooked in romantic relationships. These themes show that other factors, beyond short stature, affect patient well-being and indicate a mismatch between patient need and healthcare provision. CONCLUSIONS: Challenges in SRS during childhood and adolescence were central to the psychosocial impact of SRS, and were not limited to height. These challenges, as well as symptoms such as pain and fatigue for women, have not previously been documented. To help individuals with SRS develop strategies to manage psychosocial issues, we recommend clinicians incorporate psychological services as an integral part of multidisciplinary teams managing individuals with SRS during childhood, adolescence and adulthood.