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Aims/hypothesis Diabetes diagnosed at Methods We studied 166 infants diagnosed with type 1 diabetes at n = 164) or children with type 1 diabetes diagnosed at 6–24 months of age (n = 152). We assessed the type 1 diabetes genetic risk score (T1D-GRS), islet autoantibodies, C-peptide and clinical features. Results We found an excess of infants with high T1D-GRS: 38% (63/166) had a T1D-GRS >95th centile of healthy individuals, whereas 5% (8/166) would be expected if all were monogenic (p p = 0.2), and had markedly reduced C-peptide levels (median z score −0.89), which were lowest in those diagnosed with type 1 diabetes at z score −1.98). Conclusions/interpretation We provide strong evidence that type 1 diabetes can present before the age of 6 months based on individuals with this extremely early-onset diabetes subtype having the classic features of childhood type 1 diabetes: high genetic risk, autoimmunity and rapid beta cell loss. The early-onset association with reduced birthweight raises the possibility that for some individuals there was reduced insulin secretion in utero. Comprehensive genetic testing for all neonatal diabetes genes remains essential for all individuals diagnosed with diabetes at

OBJECTIVE Monogenic diabetes is rare but is an important diagnosis in pediatric diabetes clinics. These patients are often not identified as this relies on the recognition of key clinical features by an alert clinician. Biomarkers (islet autoantibodies and C-peptide) can assist in the exclusion of patients with type 1 diabetes and allow systematic testing that does not rely on clinical recognition. Our study aimed to establish the prevalence of monogenic diabetes in U.K. pediatric clinics using a systematic approach of biomarker screening and targeted genetic testing. RESEARCH DESIGN AND METHODS We studied 808 patients (79.5% of the eligible population) RESULTS A total of 2.5% of patients (20 of 808 patients) (95% CI 1.6–3.9%) had monogenic diabetes (8 GCK, 5 HNF1A, 4 HNF4A, 1 HNF1B, 1 ABCC8, 1 INSR). The majority (17 of 20 patients) were managed without insulin treatment. A similar proportion of the population had type 2 diabetes (3.3%, 27 of 808 patients). CONCLUSIONS This large systematic study confirms a prevalence of 2.5% of patients with monogenic diabetes who were

OBJECTIVE Small studies using ultrasensitive C-peptide assays suggest endogenous insulin secretion is frequently detectable in patients with long-standing type 1 diabetes (T1D), but these studies do not use representative samples. We aimed to use the stimulated urine C-peptide-to-creatinine ratio (UCPCR) to assess C-peptide levels in a large cross-sectional, population-based study of patients with T1D. RESEARCH DESIGN AND METHODS We recruited 924 patients from primary and secondary care in two U.K. centers who had a clinical diagnosis of T1D, were under 30 years of age when they received a diagnosis, and had a diabetes duration of >5 years. The median age at diagnosis was 11 years (interquartile range 6–17 years), and the duration of diabetes was 19 years (11–27 years). All provided a home postmeal UCPCR, which was measured using a Roche electrochemiluminescence assay. RESULTS Eighty percent of patients (740 of 924 patients) had detectable endogenous C-peptide levels (UCPCR >0.001 nmol/mmol). Most patients (52%, 483 of 924 patients) had historically very low undetectable levels (UCPCR 0.0013–0.03 nmol/mmol); 8% of patients (70 of 924 patients) had a UCPCR ≥0.2 nmol/mmol, equivalent to serum levels associated with reduced complications and hypoglycemia. Absolute UCPCR levels fell with duration of disease. Age at diagnosis and duration of disease were independent predictors of C-peptide level in multivariate modeling. CONCLUSIONS This population-based study shows that the majority of long-duration T1D patients have detectable urine C-peptide levels. While the majority of patients are insulin microsecretors, some maintain clinically relevant endogenous insulin secretion for many years after the diagnosis of diabetes. Understanding this may lead to a better understanding of pathogenesis in T1D and open new possibilities for treatment.

ObjectiveInsulin secretion in sulfonylurea-treated KCNJ11 permanent neonatal diabetes mellitus (PNDM) is thought to be mediated predominantly through amplifying non-KATP-channel pathways such as incretins. Affected individuals report symptoms of postprandial hypoglycemia after eating protein/fat-rich foods. We aimed to assess the physiological response to carbohydrate and protein/fat in people with sulfonylurea-treated KCNJ11 PNDM.Research design and methods5 adults with sulfonylurea-treated KCNJ11 PNDM and five age, sex and body mass index-matched controls without diabetes had a high-carbohydrate and high-protein/fat meal on two separate mornings. Insulin(i) and glucose(g) were measured at baseline then regularly over 4 hours after the meal. Total area under the curve (tAUC) for insulin and glucose was calculated over 4 hours and compared between meals in controls and KCNJ11 cases.ResultsIn controls, glucose values after carbohydrate and protein/fat were similar (median glucose tAUC0-4h21.4 vs 19.7 mmol/L, p=0.08). In KCNJ11 cases glucose levels were higher after carbohydrate than after protein/fat (median glucose tAUC0-4h58.1 vs 31.3 mmol/L, p=0.04). These different glycemic responses reflected different patterns of insulin secretion: in controls, insulin secretion was greatly increased after carbohydrate versus protein/fat (median insulin tAUC0-4h727 vs 335 pmol/L, p=0.04), but in KCNJ11 cases insulin secretion was similar after carbohydrate and protein/fat (median insulin tAUC0-4h327 vs 378 pmol/L, p=0.50).ConclusionsIndividuals with sulfonylurea-treated KCNJ11 PNDM produce similar levels of insulin in response to both carbohydrate and protein/fat meals despite carbohydrate resulting in much higher glucose levels and protein/fat resulting in relatively low glucose levels. This suggests in an inability to modulate insulin secretion in response to glucose levels, consistent with a dependence on non-KATP pathways for insulin secretion.Trial registration numberNCT02921906.

Questionnaires to assess expectations of future health were administered to 382 patients with diabetes immediately before and after attending an annual check-up. When considering their future health status and interpreting feedback from clinicians, diabetic control appeared to be a more important criterion for Type 1 than Type 2 patients. Both patients and clinicians briefly recorded the topics they felt had been discussed during the consultation. Comparing the two sets of records revealed significant concordance, within the Type 1 but not the Type 2 sample, between patients and clinicians with respect to whether patients had been given good news. Our findings emphasize the importance of distinguishing Types 1 and 2 diabetes in accounts of patients’ expectations and motivation for self-management.

Fifty people with diabetes attending a 'high risk' renal clinic were interviewed about their perceptions of diabetic nephropathy and other diabetes related complications. Despite the high risks involved many patients appeared relatively unconcerned with, or even unaware of, the severity of their condition. It is argued that lack of obvious symptoms associated with nephropathy can lead to ambiguity during consultations and greater opportunity for the use of a variety of risk attenuation strategies by the patient. It is recommended that medical staff become aware of these strategies in order to understand failures in self-management in the face of complications such as nephropathy.

Aims To investigate patients' views of screening for diabetic retinopathy and the effects of the screening process on health beliefs and behavioural intentions.Setting A retinal screening clinic at a GP surgery in SW England.Methods Questionnaires administered before and immediately after screening by retinal photography.Results One hundred patients attended (94% of those invited); 12 had Type 1 and 88 Type 2 diabetes. Over 90% found the information, and seeing their retinal photograph, helpful. Sixty-three were found to have no problem and 37 had some type of eye problem detected. Overall, patients rated the news given at screening as better than expected (P < 0.001) and even those found to have problems mostly rated the news as good (P < 0.001). Detection of problems led patients to rate their recent eye health more negatively, but to be less pessimistic about future deterioration (P < 0.01). Patients with diabetes-related eye problems were more likely (P < 0.05) to say that they both should and would make changes to their self-management, but only after controlling for duration of diabetes. Those who had had diabetes longest declared least intention to change.Conclusions Screening by retinal photography is acceptable to patients. Results suggest that screening modified health beliefs but had limited effect on behavioural intentions, with patients of longer disease duration being more reluctant to change their self-management. Opportunities during retinal screening for advice on self-management could be more effectively exploited.

Immediately following their annual review at a specialist diabetes clinic, 175 individuals (79 type 1 and 96 type 2 diabetes) completed a questionnaire to assess their satisfaction with the consultation and understanding of the information given. The majority (84.6%) reported satisfaction with the way in which information was presented. Patients who reported greater understanding, and who felt able to discuss or ask questions during their consultation, expressed higher satisfaction (both p

Background Traditionally, some teenagers and young adults with diabetes have not engaged well at diabetes appointments, giving rise to concerns about long-term health risks. We considered that apps might help this group of patients to improve preparation for, and therefore engagement at their appointments. Although there are already many apps for young people with type 1 diabetes (YPD), we thought that by supporting YPD themselves to develop apps, the resulting products would have greater “authenticity” and relevance. Objective To test the feasibility of an online competition to (1) recruit and support YPD to develop apps (mobile or Internet based) to help prepare for clinic appointments, and (2) for these apps to be tested and rated by YPD. Methods The “Diabetes App Challenge” was a United Kingdom (UK) national competition, run between June and October 2012 for teams including at least one YPD (aged 16-25) to pilot the design and development of apps for use by other YPD prior to clinic appointments. The competition was advertised by social media, email, AdWords and postings on the Diabetes UK website. Registrants for the competition were supported via email and discussion forum. After app development, other YPD were invited (November 2012-February 2013) to trial the apps, choose and use one prior to a clinic appointment, and review their experiences. Results Of 56 people (including 28 YPD) who expressed interest in the competition, 6 teams (14 people) developed and submitted an app. Two apps aimed to facilitate agenda setting in clinic consultations, 2 enabled data logging and 2 helped insulin dose calculation. Of 135 YPD who registered to trial the apps, 83 (61.5%) took part (mean age 18.98, 37/83 male). Agenda setting apps were considered most useful for preparing for and setting the focus of clinic appointments (P=.02). Just over half (46/83, 55%) said they would use their chosen app again and 4/5 (67/83, 81%) would recommend it to a friend. Conclusions This competition to engage YPD in developing and reviewing apps proved successful. App designers and testers saw a need for a range of functions. However, this may, in part, reflect a lack of detailed knowledge of all existing apps and be limited by the technical skills of YPD. App competitions appear worth applying to other patient groups, but future competitions should include a review stage and perhaps focus on ideas for app design for subsequent professional implementation.

Background Making the correct diabetes diagnosis in children is crucial for lifelong management. Type 2 diabetes and maturity onset diabetes of the young (MODY) are seen in the pediatric setting, and can be difficult to discriminate from type 1 diabetes. Postprandial urinary C-peptide creatinine ratio (UCPCR) is a non-invasive measure of endogenous insulin secretion that has not been tested as a diagnostic tool in children or in patients with diabetes duration