The presentation, course and outcome of COVID-19 infection in people with Prader-Willi syndrome: unexpected findings from an international survey.

BACKGROUND: Prader-Willi syndrome (PWS), is a genetically determined neurodevelopmental disorder, associated with intellectual disabilities and a high incidence of obesity, diabetes mellitus, and respiratory disorders. We hypothesised that COVID-19, a viral infection which more severely affects people with these conditions, would, in people with PWS, present atypically and result in severe outcomes. METHOD: A structured on-line questionnaire was piloted with parents and professionals at the International Prader-Willi Syndrome Organization (IPWSO) and promoted internationally through their global network. Family members/other carers were asked to complete if someone they cared for with PWS was strongly suspected or confirmed as having COVID-19. RESULTS: Over 1 year of the pandemic 72 responses were received, 47 adults, 25 children. The following underlying conditions were present: 16 people with PWS were overweight and 18 obese, five had diabetes mellitus and 18 sleep apnoea. Main presenting symptoms were raised temperature, fatigue/daytime sleepiness, dry cough, headache/pain, and feeling unwell, with illnesses generally lasting less than a week. Length of illness was not significantly related to age, BMI, sex, or genetic subtype. No one was ventilated or in an intensive care unit or died, one person was in hospital for four days needing oxygen. CONCLUSIONS: Contrary to our hypothesis, the PWS cohort had asymptomatic infection or mild illness. A possible explanation, supported by anecdotal evidence from parents and professional carers, is that people with PWS have a degree of innate immunity to viral infections. However, likely selection effects and a relatively low number of responses means that further evidence is needed to test this hypothesis.

Prognostic models for identifying adults with intellectual disabilities and mealtime support needs who are at greatest risk of respiratory infection and emergency hospitalisation.

BACKGROUND: Among adults with intellectual disabilities (ID), problems with eating, drinking and swallowing (EDS), and an associated need for mealtime support, are common, with an estimated 15% of adults known to specialist ID services requiring mealtime support. We set out to identify which adults with ID who receive mealtime support are at an increased risk of respiratory infections and emergency hospitalisation related to EDS problems. METHOD: An exploratory, prospective cohort study was undertaken in the East of England. At baseline, structured interviews with the caregivers of 142 adults with ID and any type of mealtime support needs were used to gather information on health and support needs over the previous 12 months. These interviews were repeated at follow-up, 12 months later. The resulting dataset, covering a 24-month period, was analysed with logistic regression, using model averaging to perform sensitivity analysis, and backwards step-wise variable selection to identify the most important predictors. RESULTS: Individuals with a history of respiratory infections (in the first year of study), those who had epilepsy and those with caregiver-reported difficulty swallowing were most likely to have respiratory infections in the second year. Adults with increasing mealtime support needs, epilepsy and/or full mealtime support needs (fed mainly or entirely by a caregiver or enterally) were at increased risk of emergency hospitalisation for EDS-related problems. CONCLUSIONS: Our findings highlight the importance of carefully monitoring health issues experienced by adults with ID and EDS problems, as well as their eating, drinking and swallowing skills. However, the models developed in this exploratory research require validation through future studies addressing the EDS problems commonly experienced by adults with ID and their implications for health outcomes and quality of life. Further research into the relationship between epilepsy and EDS problems would provide much-needed insight into the complex relationship between the two areas.

'What vision?': experiences of Team members in a community service for adults with intellectual disabilities.

BACKGROUND: In the UK, the closure of 'long-stay' hospitals was accompanied by the development of community teams (CTs) to support people with intellectual disabilities (IDs) to live in community settings. The self-reported experiences of staff working in such teams have been neglected. METHODS: Focusing on a single county-wide service, comprising five multi-disciplinary and inter-agency CTs, we measured perceptions among the health care and care management Team members of (1) their personal well-being; (2) the functioning of their team; and (3) the organisation's commitment to quality, and culture. RESULTS: Almost three-quarters of the questionnaires were returned (73/101; 72%). The scores of health care practitioners and care managers were very similar: (1) the MBI scores of more than half the respondents were 'of concern'; (2) similarly, almost four in ten respondents' scores on the Vision scale of the TCI were 'of concern'; (3) the perceived commitment to quality (QIIS-II Part 2) was uncertain; and (4) the organisational culture (QIIS-II, Part 1) was viewed as primarily hierarchical. DISCUSSION: The perceived absence of a vision for the service, combined with a dominant culture viewed by its members as strongly focussed on bureaucracy and process, potentially compromises the ability of these CTs to respond proactively to the needs of people with IDs. Given the changes in legislation, policy and practice that have taken place since CTs were established, it would be timely to revisit their role and purpose.

Maternal first trimester serum levels of free-beta human chorionic gonadotrophin and male genital anomalies.

STUDY QUESTION: Are maternal first trimester levels of serum free-beta hCG associated with the development of hypospadias or undescended testis (UDT) in boys? SUMMARY ANSWER: Overall, first trimester maternal levels of serum free-beta hCG are not associated with hypospadias or UDT. However, elevated levels were found in severe phenotypes (proximal hypospadias and bilateral UDT) suggesting an altered pathway of hormonal release in early pregnancy. WHAT IS KNOWN ALREADY: Human chorionic gonadotrophin peaks in first trimester of pregnancy stimulating fetal testosterone production, which is key to normal male genital development. Endocrine-disrupting insults early in pregnancy have been associated with increased risk of common genital anomalies in males such as hypospadias and UDT. One plausible etiological pathway is altered release of hCG. STUDY DESIGN, SIZE, DURATION: We conducted a record-linkage study of two separate populations of women attending first trimester aneuploidy screening in two Australian states, New South Wales (NSW) and Western Australia (WA), in 2006-2009 and 2001-2003, respectively. PARTICIPANTS/MATERIALS, SETTING, METHODS: Included were women who gave birth to a singleton live born male infant. There were 12 099 boys from NSW and 10 518 from WA included, of whom 90 and 77 had hypospadias; and 107 and 109 UDT, respectively. Serum levels of free-beta hCG were ascertained from laboratory databases and combined with relevant birth outcomes and congenital anomalies via record linkage of laboratory, birth, congenital anomalies and hospital data. Median and quartile levels of gestational age specific free-beta hCG multiple of the median (MoM) were compared between affected and unaffected boys. Logistic regression was used to evaluate the association between levels of free-beta hCG MoM and hypospadias or UDT, stratified by suspected placental dysfunction and co-existing anomalies. Where relevant, pooled analysis was conducted. MAIN RESULTS AND THE ROLE OF CHANCE: There was no difference in median hCG levels amongst women with an infant with hypospadias (NSW = 0.88 MoM, P = 0.83; WA = 0.84 MoM, P = 0.76) or UDT (NSW = 0.89 MoM, P = 0.54; WA = 0.95 MoM, P = 0.95), compared with women with an unaffected boy (NSW = 0.92 MoM; WA = 0.88 MoM). Low (<25th centile) or high (>75th centile) hCG levels were not associated with hypospadias or UDT, nor when stratifying by suspected placental dysfunction and co-existing anomalies. However, there was a tendency towards high levels for severe types, although confidence intervals were wide. When combining NSW and WA results, high hCG MoM levels (>75th centile) were associated with increased risk of proximal hypospadias (odds ratio (OR) 4.34; 95% CI: 1.08-17.4) and bilateral UDT (OR 2.86; 95% CI: 1.02-8.03). LIMITATIONS, REASONS FOR CAUTION: There were only small numbers of proximal hypospadias and bilateral UDT in both cohorts and although we conducted pooled analyses, results reported on these should be interpreted with caution. Gestational age by ultrasound may have been inaccurately estimated in small and large for gestational age fetuses affecting hCG MoM calculation in those pregnancies. Despite the reliability of our datasets in identifying adverse pregnancy outcomes, we did not have pathology information to confirm tissue lesions in the placenta and therefore our composite outcome should be considered as a proxy for placental dysfunction. WIDER IMPLICATIONS OF THE FINDINGS: This is one of the largest population-based studies examining the association between maternal first trimester serum levels of free-beta hCG and genital anomalies-hypospadias and UDT; and the first to compare specific phenotypes by severity. Overall, our findings does not support the hypothesis that alteration in maternal hCG levels is associated with the development of male genital anomalies; however, high hCG free-beta levels found in severe types suggest different underlying etiology involving higher production and secretion of hCG. These findings require further exploration and replication. STUDY FUNDING/COMPETING INTERESTS: This work was funded by the National Health and Medical Research Council (NHMRC) grant APP1047263. N.N. is supported by a NHMRC Career Development Fellowship APP1067066. C.B. was supported by a NHMRC Principal Research Fellowship #634341. The funding agencies had no role in the design, analysis, interpretation or reporting of the findings. There are no competing interests. TRIAL REGISTRATION NUMBER: Not applicable.

Novel insights into maladaptive behaviours in Prader-Willi syndrome: serendipitous findings from an open trial of vagus nerve stimulation.

BACKGROUND: We report striking and unanticipated improvements in maladaptive behaviours in Prader-Willi syndrome (PWS) during a trial of vagus nerve stimulation (VNS) initially designed to investigate effects on the overeating behaviour. PWS is a genetically determined neurodevelopmental disorder associated with mild-moderate intellectual disability (ID) and social and behavioural difficulties, alongside a characteristic and severe hyperphagia. METHODS: Three individuals with PWS underwent surgery to implant the VNS device. VNS was switched on 3 months post-implantation, with an initial 0.25 mA output current incrementally increased to a maximum of 1.5 mA as tolerated by each individual. Participants were followed up monthly. RESULTS: Vagal nerve stimulation in these individuals with PWS, within the stimulation parameters used here, was safe and acceptable. However, changes in eating behaviour were equivocal. Intriguingly, unanticipated, although consistent, beneficial effects were reported by two participants and their carers in maladaptive behaviour, temperament and social functioning. These improvements and associated effects on food-seeking behaviour, but not weight, indicate that VNS may have potential as a novel treatment for such behaviours. CONCLUSIONS: We propose that these changes are mediated through afferent and efferent vagal projections and their effects on specific neural networks and functioning of the autonomic nervous system and provide new insights into the mechanisms that underpin what are serious and common problems affecting people with IDs more generally.

Investigating the widely held belief that men and women with learning disabilities receive poor quality healthcare when admitted to hospital: a single-site study of 30-day readmission rates.

BACKGROUND: This study aims to use 30-day readmission rates to investigate the presumption that men and women with learning disabilities (LDs, known internationally as intellectual disabilities) receive poorer quality hospital care than their non-disabled peers. METHOD: A 12-month retrospective audit was conducted using Hospital Episode Statistics (HES) at a single acute hospital in the East of England. This identified all in-patient admissions; admissions where the person concerned was recognised as having a LD; and all emergency readmissions within 30 days of discharge. Additionally, the healthcare records of all patients identified as having a LD and readmitted within 30 days as a medical emergency were examined in order to determine whether or not these readmissions were potentially preventable. RESULTS: Over the study period, a total of 66 870 adults were admitted as in-patients, among whom 7408 were readmitted as medical emergencies within 30 days of discharge: a readmission rate of 11%. Of these 66 870 patients, 256 were identified as having a LD, with 32 of them experiencing at least one emergency readmission within 30 days: a readmission rate of 13%. When examined, the healthcare records pertaining to these 32 patients who had a total of 39 unique 30-day readmissions revealed that 69% (n = 26) of these readmissions were potentially preventable. CONCLUSION: Although overall readmission rates were similar for patients with LDs and those from the general population, patients with LDs had a much higher rate of potentially preventable readmissions when compared to a general population estimate from van Walraven et al. This suggests that there is still work to be done to ensure that this patient population receives hospital care that is both safe and of high quality.

Ageing in people with Prader-Willi syndrome: mortality in the UK population cohort and morbidity in an older sample of adults.

BACKGROUND: The past two decades have seen a great improvement in the care of people with Prader-Willi syndrome (PWS), particularly with regard to control of diet and behaviour management. Has this affected mortality rates or thrown up new issues regarding premature ageing or dementia? We investigated two aspects of ageing in people with PWS: (1) an estimate of mortality over 9 years in a cohort of people with PWS, originally recruited in 1998-2000; and (2) premature ageing or dementia in people aged ⩾40 years. METHOD: (1) A follow-up of the population-based 1998-2000 cohort to investigate the subsequent mortality rate; and (2) the recruitment and structured assessment of all members of the Prader-Willi Syndrome Association UK (PWSA-UK) aged ⩾40 years who agreed to participate. RESULTS: Follow-up of the population-based 1998-2000 cohort gave a mortality rate of at least 7/62 over 9 years (1.25% per annum; 20 untraced), age at death was between 13 and 59 years. Twenty-six members of the PWSA-UK aged ⩾40 years were recruited, 18 of whom had a genetic diagnosis (gd) of PWS. Twenty-two (14 gd) showed no evidence of dementia. Four, with possible symptoms, are described in more detail; all are female, of maternal uniparental disomy (mUPD) genetic subtype, or have a disomic region, and all have a long history of psychotic illness. CONCLUSIONS: The mortality rate in people with PWS seems to be declining. The subgroup of people with PWS due to UPD or disomic region with female gender and a history of psychosis may be at risk of early onset dementia.

The incidence of healthcare use, ill health and mortality in adults with intellectual disabilities and mealtime support needs.

BACKGROUND: Adults with intellectual disabilities (ID) experience a wide range of eating, drinking and/or swallowing (EDS) problems, for which they receive diverse mealtime support interventions. Previous research has estimated that dysphagia (difficulty swallowing) affects 8% of all adults with ID and that 15% require some form of mealtime support. People with ID (whether they require mealtime support or not) also experience a greater burden of ill health and die younger than their peers in the general population with no ID. METHODS: Using an exploratory, population-based cohort study design, we set out to examine health-related outcomes in adults with ID who receive mealtime support for any eating, drinking or swallowing problem, by establishing the annual incidence of healthcare use, EDS-related ill health, and all-cause mortality. This study was conducted in two counties in the East of England. RESULTS: In 2009, 142 adults with mild to profound ID and a need for any type of mealtime support were recruited for a baseline survey. At follow-up 1 year later, 127 individuals were alive, eight had died and seven could not be contacted. Almost all participants had one or more consultations with a general practitioner (GP) each year (85-95%) and, in the first year, 20% reportedly had one or more emergency hospitalizations. Although their annual number of GP visits was broadly comparable with that of the general population, one-fifth of this population's primary healthcare use was directly attributable to EDS-related ill health. Respiratory infections were the most common cause of morbidity, and the immediate cause of all eight deaths, while concerns about nutrition and dehydration were surprisingly minor. Our participants had a high annual incidence of death (5%) and, with a standardized mortality ratio of 267, their observed mortality was more than twice that expected in the general population of adults with ID (not selected because of mealtime support for EDS problems). CONCLUSIONS: All Annual Health Checks now offered to adults with ID should include questions about respiratory infections and EDS functioning, in order to focus attention on EDS problems in this population. This has the potential to reduce life-threatening illness.

Knowledge exchange and integrated services: experiences from an integrated community intellectual (learning) disability service for adults.

BACKGROUND: This paper examines knowledge exchange dynamics in a specialist integrated intellectual (learning) disability service, comprising specialist healthcare provision with social care commissioning and management, and considers their significance in terms of integrated service delivery. METHODS: A qualitative study focusing on knowledge exchange and integrated services. Semi-structured interviews (n = 25) were conducted with members of an integrated intellectual disability service in England regarding their perceptions of knowledge exchange within the service and the way in which knowledge exchange impinges on the operation of the integrated service. RESULTS: Exchange of 'explicit' (codifiable) knowledge between health and care management components of the service is problematic because of a lack of integrated clinical governance and related factors such as IT and care record systems and office arrangements. Team meetings and workplace interactions allowed for informal exchange of explicit and 'tacit' (non-codifiable) knowledge, but presented challenges in terms of knowledge exchange completeness and sustainability. CONCLUSIONS: Knowledge exchange processes play an important role in the functioning of integrated services incorporating health and care management components. Managers need to ensure that knowledge exchange processes facilitate both explicit and tacit knowledge exchange and do not rely excessively on informal, 'ad hoc' interactions. Research on integrated services should take account of micro-scale knowledge exchange dynamics and relationships between social dynamics and physical factors.

A longitudinal follow-up study of people with Prader-Willi syndrome with psychosis and those at increased risk of developing psychosis due to genetic subtype.

BACKGROUND: People with Prader-Willi syndrome (PWS), a genetically defined developmental disorder, are at increased risk of developing psychotic illness. This is particularly the case for those with a genetic subtype of PWS called maternal uniparental disomy (mUPD), where rates of psychosis are more than 60% by early adult life. Little is known about the long-term course of their disorder. METHOD: Individuals who had had episodes of psychosis or were at increased risk of developing psychosis due to their genetic subtype and had taken part in a previous study were contacted. Ten people were untraceable or deceased, leaving a total of 38 potential participants. Of these, 28 agreed to take part in a follow-up interview or complete a questionnaire about their mental health and medication. This represented 20/35 (57.1%) people from the original study who had had psychosis and 8/13 (61.5%) people who were at risk due to their genetic subtype. They were thought to be representative of those groups as a whole based on IQ and number of episodes of psychosis. RESULTS: Two individuals had had recurrent episodes of psychosis while all others remained well. There were no new-onset cases of psychosis in those at risk. Individuals with PWS remained on high levels of psychiatric medication throughout the follow-up period. CONCLUSIONS: Recurrent episodes of psychosis may be rare in people with PWS once stability has been achieved in the management of their illness. We speculate that this may be due to the protective influence of medication.

Laser doppler line scan burn imager (LDLS-BI): sideways move or a step ahead?

OBJECTIVE: To assess the accuracy of a Laser Doppler Line Scanner (LDLS) in predicting burn wound healing in children compared to conventional Laser Doppler Imaging (LDI). METHODS: A prospective study comparing a LDLS with a conventional LDI to assess burn wound Healing Potential (HP) was performed in 50 paediatric patients presenting to our institution between February 2010 and March 2011, as part of a multi-centre, international trial. Inclusion criteria were superficial to deep dermal burns that were able to be scanned between 42 h and 5 days of the burn. RESULTS: Of the 50 patients enrolled, one was excluded from subsequent analysis as they were unable to present for wound reviews at 14 and 21 days. Ninety scans were performed of 59 burn wounds in the remaining 49 patients. The mean age was 4 years and 9 months (range 8 months to 16 years) and the mean Total Body Surface Area burnt was 8.3% (range 0.1-15%). The most common mechanism of injury was a scald, followed by contact and flame burns. A limb was the most common site of injury. Overall accuracy of the scanners was 94.5% (LDI) and 95% (LDLS), with accuracy lowest for indeterminate burns that healed within 14-21 days. CONCLUSION: The LDLS was found to be as accurate as the LDI in predicting burn wound HP in children. Whilst the LDLS scan resolution was lower, with more scans of larger burns required, its smaller size and greater scan speed proved valuable in children.

Responsivity to criminogenic need in forensic intellectual disability services.

BACKGROUND: Research has shown for some time that addressing criminogenic need is one of the crucial aspects of reducing reoffending in all types of offenders. Criminogenic need such as anger or inappropriate sexual interest is considered to be crucial in the commission of the offence. The aim of the present study is to investigate the extent to which forensic services address the needs of those accepted into services. METHOD: This study reviews the treatment for 197 offenders with intellectual disability accepted into a range of services. Participants' case files were examined to ascertain the extent to which need was addressed through recognised therapies. A standard pro forma was used on which we had established good reliability across four research assistants. RESULTS: The most frequently referred problems were violence and sexual offending. Specialist forensic intellectual disability community services were significantly more likely to provide treatment specifically designed to address index behaviours when compared to generic community services and secure services. CONCLUSIONS: Various possible explanations of these findings are explored including staffing levels, diagnosed mental illness, expertise of staff and clarity of purpose in services.

Instant hot noodles: do they need to burn?

BACKGROUND: Scalds and contact burns in children may occur as the result of spillage of hot food and drinks, including instant hot noodles. This study sought to determine the frequency of noodle burns in children and investigate the thermal properties of instant hot noodles. METHODS: Data on instant hot noodle burns in children were retrieved from the New South Wales Severe Burn Injury Database between 2005 and 2010. Five widely available brands of instant hot noodles, including three cup and two packet varieties, were prepared following the manufacturer's instructions. For each preparation the initial temperature after cooking was recorded, together with the time to cool to 50°C. RESULTS: 291 children sustained instant hot noodle burns over the 6 year study period, representing 5.4% of all children referred to our burns unit. Over a third received inadequate first aid. Cup noodles cooked with boiling water reached the highest temperature of over 80°C and took the longest time to cool to 50°C: on average 52.3 min. Cup noodles in smaller, narrower containers achieved higher post-cooking temperatures compared to noodles in wider, bowel shaped containers. Packet noodles cooked in a Microwave oven attained lower peak temperatures and shorter cooling times compared to cup noodles. CONCLUSIONS: Although relatively uncommon in children, instant hot noodle burns often received inadequate first aid. When cooked according to manufacturer's instructions, noodles generally exceeded temperatures sufficient to cause a burn. Consumers and parents need to be aware of the risks of burn when preparing these foods.

A neuroimaging proof of principle study of Down's syndrome and dementia: ethical and methodological challenges in intrusive research.

BACKGROUND: Research into specific illnesses and the development of new treatments may only become possible as new technologies become available. When used for research, such technologies may best be described as 'intrusive', in that they require a considerable willingness and commitment on the part of the participants. This has increasingly been the case for brain disorders and illnesses where novel neuroimaging techniques, often combined with clinical and psychological assessments, have the potential to result in new understanding. People with intellectual disabilities (ID) have a history of under-representation as participants in research using such technologies and are therefore at risk of not receiving equal access to state-of-the-art treatments. We propose that 'intrusive' biomedical research is both possible and ethical in ID, and explore some of the methodological challenges by reference to a recent proof of principle study that used a relatively new ligand-based brain scanning technique in a group of volunteers with Down's syndrome. METHODS: Five overlapping stages of the study methodology were identified and evaluated for their acceptability to volunteers with mild to moderate ID through discussion, reflection, and analysis of structured feedback in the context of key policy documents, ethical guidelines and relevant legislation. RESULTS: Identification of key ethical and methodological challenges from reflective practice and participant feedback facilitated the emergence of strategies that permitted continual refinement of the study design. Important areas considered included (1) being clear about the purpose and scientific justification for the study; (2) reconciling the potential risks and benefits with relevant ethical guidelines and legislation; (3) identifying and implementing effective recruitment strategies; (4) optimising and assessing capacity to consent; and (5) making the 'intrusive' procedures as acceptable as possible to people with ID. CONCLUSION: We were able to demonstrate that a proof of principle study incorporating a novel brain scanning technique in a group of volunteers with ID was feasible, safe and well tolerated, despite the vulnerabilities of the study cohort and the intrusive nature of the research. We consider the study within an ethical and historical discourse about the principles that define current 'best practice' in ID research and propose a number of key recommendations for making intrusive research acceptable in people with ID.

Update on the important new drug target in cardiovascular medicine - the vascular glycocalyx.

We reviewed this subject in 2009, pointing out that, to the process of atherothrombosis, glycocalyx dysfunction and damage must be added to the previous known causitive factors. Glycocalyx dysfunction is possibly the very first step in the process of atherothrombosis, being a protective layer between the endothelial cells and the blood. We emphasise the unique feature of glycocalyx mediated vasodilatation in that it is initiated purely by mechanical changes, i.e., changes in vascular wall shear stress, allowing conduit arteries to adjust diameter to demanded blood flow rate. The predeliction of atheroma to sites of low shear stress, the inhibition of the shear response by lumenal hyperglycaemia, and the fact that the response is mediated by nitric oxide (NO), an anti-atheromatous agent has led to the hypothesis that impairment of this pathway is pro-atherogenic. In the microcirculation it has been shown that the glycocalyx must be added to the factors involved in the Starling hypothesis of tissue fluid generation and exchange. As a consequence glycoalyx dysfunction in hyperglycaemia has been postulated to cause oedema and microalbinuria. We suggested that perhaps the arterial glycocalyx will become the most important for future early prevention of people at risk of cardiovascular disease. The advances in this subject since 2009 are the subject of the present review. What has struck us when searching the literature is that research into the glycocalyx has increased very much and now comes from many disciplines; e.g., diabetes, hypertension, bioengineering, physiology, critical care, cardiology, shock. This update is by no means exhaustive, but hopes, again, to bring to the attention of the pharmaceutical industry, the need for grants in the appropriate experimental models.

Appetite hormones and the transition to hyperphagia in children with Prader-Willi syndrome.

OBJECTIVE: Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder with several nutritional phases during childhood proceeding from poor feeding, through normal eating without and with obesity, to hyperphagia and life-threatening obesity, with variable ages of onset. We investigated whether differences in appetite hormones may explain the development of abnormal eating behaviour in young children with PWS. SUBJECTS: In this cross-sectional study, children with PWS (n=42) and controls (n=9) aged 7 months-5 years were recruited. Mothers were interviewed regarding eating behaviour, and body mass index (BMI) was calculated. Fasting plasma samples were assayed for insulin, leptin, glucose, peptide YY (PYY), ghrelin and pancreatic polypeptide (PP). RESULTS: There was no significant relationship between eating behaviour in PWS subjects and the levels of any hormones or insulin resistance, independent of age. Fasting plasma leptin levels were significantly higher (mean ± s.d.: 22.6 ± 12.5 vs 1.97 ± 0.79 ng ml(-1), P=0.005), and PP levels were significantly lower (22.6 ± 12.5 vs 69.8 ± 43.8 pmol l(-1), P<0.001) in the PWS group compared with the controls, and this was independent of age, BMI, insulin resistance or IGF-1 levels. However, there was no significant difference in plasma insulin, insulin resistance or ghrelin levels between groups, though PYY declined more rapidly with age but not BMI in PWS subjects. CONCLUSION: Even under the age of 5 years, PWS is associated with low levels of anorexigenic PP, as in older children and adults. Hyperghrelinaemia or hypoinsulinaemia was not seen in these young children with PWS. Change in these appetite hormones was not associated with the timing of the transition to the characteristic hyperphagic phase. However, abnormal and/or delayed development or sensitivity of the effector pathways of these appetitive hormones (for example, parasympathetic and central nervous system) may interact with low PP levels, and later hyperghrelinaemia or hypoinsulinaemia, to contribute to hyperphagia in PWS.

The extent and nature of need for mealtime support among adults with intellectual disabilities.

BACKGROUND: For many adults with an intellectual disability (ID), mealtimes carry significant health risks. While research and allied clinical guidance has focused mainly on dysphagia, adults with a range of physical and behavioural difficulties require mealtime support to ensure safety and adequate nutrition. The extent of need for and nature of such support within the wider ID population has yet to be reported. METHODS: In this study, we have estimated the prevalence of need for mealtime support among people with ID in the UK, using a population of 2230 adults known to specialist ID services (in Cambridgeshire, UK, total population 586,900). In a sample (n = 69, aged 19 to 79 years, with mild to profound ID), we characterised the support provided, using a structured proforma to consult support workers and carers providing mealtime support, and health and social care records. RESULTS: Mealtime support was found to be required by a significant minority of people with ID for complex and varied reasons. Prevalence of need for such support was estimated at 15% of adults known to specialist ID services or 56 per 100,000 total population. Within a sample, support required was found to vary widely in nature (from texture modification or environmental adaptation to enteral feeding) and in overall level (from minimal to full support, dependent on functional skills). Needs had increased over time in almost half (n = 34, 49.3%). Reasons for support included difficulties getting food into the body (n = 56, 82.2%), risky eating and drinking behaviours (n = 31, 44.9%) and slow eating or food refusal (n = 30, 43.5%). These proportions translate into crude estimates of the prevalence of these difficulties within the known ID population of 11.9%, 6.6% and 6.4% respectively. Within the sample of those requiring mealtime support, need for support was reported to be contributed to by the presence of additional disability or illness (e.g. visual impairment, poor dentition and dementia; n = 45, 65.2%) and by psychological or behavioural issues (e.g. challenging behaviour, emotional disturbance; n = 36, 52.2%). CONCLUSIONS: These findings not only highlight the need for a multidisciplinary approach to mealtime interventions (paying particular attention to psychological and environmental as well as physical issues), but also signal the daily difficulties faced by carers and paid support workers providing such support and illustrate their potentially crucial role in managing the serious health risks associated with eating and drinking difficulties in this population.

Prune belly syndrome.

The majority of paediatric surgeons will encounter a patient with prune belly syndrome (PBS) only a few times in their clinical practice. There have been many opposing views in the literature regarding the pathogenesis and management of this complex condition. A detailed review was conducted using PubMed to identify key publications involving PBS. This article discusses the evolution of our understanding of the pathogenesis and diagnosis of PBS, including its typical characteristics. We describe the management options available for bilateral intra-abdominal testes, the deficient abdominal wall, the dilated urinary system and examine the evidence base used to support the current approaches employed.