Impairment because of narcolepsy strongly limits job performance, but there are no standard criteria to assess disability in people with narcolepsy and a scale of disease severity is still lacking. We explored: (1) the interobserver reliability among Italian Medical Commissions making disability and handicap benefit decisions for people with narcolepsy, searching for correlations between the recognized disability degree and patients' features; (2) the willingness to report patients to the driving licence authority and (3) possible sources of variance in judgement. Fifteen narcoleptic patients were examined by four Medical Commissions in simulated sessions. Raw agreement and interobserver reliability among Commissions were calculated for disability and handicap benefit decisions and for driving licence decisions. Levels of judgement differed on percentage of disability (P < 0.001), severity of handicap (P = 0.0007) and the need to inform the driving licence authority (P = 0.032). Interobserver reliability ranged from Kappa = -0.10 to 0.35 for disability benefit decision and from Kappa = -0.26 to 0.36 for handicap benefit decision. The raw agreement on driving licence decision ranged from 73% to 100% (Kappa not calculable). Spearman's correlation between percentages of disability and patients' features showed correlations with age, daytime naps, sleepiness, cataplexy and quality of life. This first interobserver reliability study on social benefit decisions for narcolepsy shows the difficulty of reaching an agreement in this field, mainly because of variance in interpretation of the assessment criteria. The minimum set of indicators of disease severity correlating with patients' self assessments encourages a disability classification of narcolepsy.

Background: Many small and malnourished infants under 6 months of age have problems with breastfeeding and restoring effective exclusive breastfeeding is a common treatment goal. Assessment is a critical first step of case management, but most malnutrition guidelines do not specify how best to do this. We aimed to identify breastfeeding assessment tools for use in assessing at-risk and malnourished infants in resource-poor settings. Methods: We systematically searched: Medline and Embase; Web of Knowledge; Cochrane Reviews; Eldis and Google Scholar databases. Also the World Health Organization (WHO), United Nations International Children’s Emergency Fund (UNICEF), CAse REport guidelines, Emergency Nutrition Network, and Field Exchange websites. Assessment tool content was analysed using a framework describing breastfeeding ‘domains’ (baby’s behaviour; mother’s behaviour; position; latching; effective feeding; breast health; baby’s health; mother’s view of  feed; number, timing and length of feeds). Results: We identified 29 breastfeeding assessment tools and 45 validation studies. Eight tools had not been validated. Evidence underpinning most tools was low quality and mainly from high-income countries and hospital settings. The most comprehensive tools were the Breastfeeding, Evaluation and Education Tool, UNICEF Baby-Friendly Hospital Initiative tools and CARE training package. The tool with the strongest evidence was the WHO/UNICEF B-R-E-A-S-T-Feed Observation Form. Conclusions: Despite many possible tools, there is currently no one gold standard. For assessing malnourished infants in resource-poor settings, UNICEF Baby-Friendly Hospital Initiative tools, Module IFE and the WHO/UNICEF B-R-E-A-S-T-Feed Observation Form are the best available tools but could be improved by adding questions from other tools. Allowing for context, one tool for rapid community-based assessment plus a more detailed one for clinic/hospital assessment might help optimally identify breastfeeding problems and the support required. Further research is important to refine existing tools and develop new ones. Rigorous testing, especially against outcomes such as breastfeeding status and growth, is key.

Background: Many small and malnourished infants under 6 months of age have problems with breastfeeding and restoring effective exclusive breastfeeding is a common treatment goal. Assessment is a critical first step of case management, but most malnutrition guidelines do not specify how best to do this. We aimed to identify breastfeeding assessment tools for use in assessing at-risk and malnourished infants in resource-poor settings. Methods: We systematically searched: Medline and Embase; Web of Knowledge; Cochrane Reviews; Eldis and Google Scholar databases. Also the World Health Organization (WHO), United Nations International Children’s Emergency Fund (UNICEF), CAse REport guidelines, Emergency Nutrition Network, and Field Exchange websites. Assessment tool content was analysed using a framework describing breastfeeding ‘domains’ (baby’s behaviour; mother’s behaviour; position; latching; effective feeding; breast health; baby’s health; mother’s view of  feed; number, timing and length of feeds). Results: We identified 29 breastfeeding assessment tools and 45 validation studies. Eight tools had not been validated. Evidence underpinning most tools was low quality and mainly from high-income countries and hospital settings. The most comprehensive tools were the Breastfeeding, Evaluation and Education Tool, UNICEF Baby-Friendly Hospital Initiative tools and CARE training package. The tool with the strongest evidence was the WHO/UNICEF B-R-E-A-S-T-Feed Observation Form. Conclusions: Despite many possible tools, there is currently no one gold standard. For assessing malnourished infants in resource-poor settings, UNICEF Baby-Friendly Hospital Initiative tools, Module IFE and the WHO/UNICEF B-R-E-A-S-T-Feed Observation Form are the best available tools but could be improved by adding questions from other tools. Allowing for context, one tool for rapid community-based assessment plus a more detailed one for clinic/hospital assessment might help optimally identify breastfeeding problems and the support required. Further research is important to refine existing tools and develop new ones. Rigorous testing, especially against outcomes such as breastfeeding status and growth, is key.

BackgroundUsing hydrogen breath testing (HBT) to diagnose small intestinal bacterial overgrowth (SIBO) remains controversial in patients with functional gastrointestinal (GI) disorders, and unknown in those with hypermobility Ehlers–Danlos syndrome (hEDS). We assessed prevalence of positive HBTs in these groups, evaluated the predictive value of GI symptoms and the potential role of proton pump inhibitors (PPIs) on test results.MethodsSequential patients referred for HBT to a tertiary unit were classified into the following groups: GI maldigestion/malabsorption, GI sensorimotor disorders, hEDS, and functional GI disorders. All underwent standardized HBT, and the yield was assessed against symptoms and PPI use.Key ResultsA total of 1062 HBTs were performed over 3 years (70% female, mean age 48 ± 16 years). Overall, 7.5% (80/1062) patients had a positive HBT. Prevalence of positive HBT was highest in patients with GI maldigestion/malabsorption (17.9%; DOR 16.16, p < 0.001), GI sensorimotor disorders (15.9%; DOR 8.84, p < 0.001), compared to functional GI disorders (1.6%; DOR 1.0) (p < 0.0001). None of the hEDS patients tested positive for HBT. A positive HBT was independently associated with increased age (DOR 1.03; p < 0.001) and symptoms of diarrhea (DOR 3.95; p < 0.0001). Patients on PPIs tended towards a positive HBT than patients off PPIs (16.1% vs 6.9%; DOR 2.47; p < 0.0001).Conclusions & InferencesLess than 2% of patients with functional GI disorders, and none of the patients with hEDS had a positive HBT. Pre‐test probability was higher in patients with: GI structural or neurological disorders; use of long‐term PPIs and symptoms of diarrhea. These criteria may be helpful in making appropriate therapeutic decisions and avoiding unnecessary hydrogen breath testing.

Background: Nasogastric (NG) intubation for esophageal manometry can be traumatic and may be associated with a temporary reduction/absence in esophageal peristalsis.This study explored the prevalence and effect on esophageal motor function. We also hypothesized that baseline anxiety as well as markers of autonomic nerve function were correlated to attenuated esophageal peristalsis. Methods: Twenty-seven patients with esophageal symptoms referred for esophageal manometry investigation (mean age 56.8 ± 16.7 years, range 23-85 years) reported baseline anxiety score (Likert scale) preintubation. Patients had continuous heart rate and blood pressure measured prior to intubation and until 10 min after catheter withdrawal. Quality of motility was assessed for each 5 ml water swallow using standard Chicago Classification metrics. Key Results: Nasogastric-intubation elicited a significant increase in heart rate (p < 0.001), systolic (p < 0.001) and diastolic (p < 0.001) blood pressure, which was in part anticipatory. The median time taken for patients' first hypotensive peristalsis (Distal Contractile Integral; DCI ≥100 mmHg s cm) was 130 s (Interquartile range; 47-242 s) and for their first normal peristalsis (DCI ≥450 mm Hg s cm) was 150 s (IQR 61-320 s), with improvement and consistent stabilization in DCI there onward. This corresponded closely to the time for initial recovery of heart rate and systolic and diastolic blood pressure postintubation. Conclusions and Inferences: Nasogastric intubation resulted in heightened sympathetic responses and/or dampened parasympathetic responses, and an associated temporary reduction or absence in esophageal peristalsis.

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The Parkinson's Families Project is a multi-centre genetic epidemiology study.AimsTo identify new genetic variants that predispose to or cause familial or early onset PD.MethodsFamilies with either familial or early onset PD are recruited. The ABN BNSU is a source of participant recruitment, by which patients with familial PD from across the UK can be notified to the study team monthly by ABN members. Permission to contact the patient is obtained from the patient through the consultant. Following informed consent, patients provide blood samples for genetic analysis and complete standard study questionnaires.Results(April 2015–Jan 2016): Over 10 months we have received 96 BNSU referrals (mean 10/month) from 33 consultants. We have received 35 permission-to-contact forms from patients (36.5%) and 19 patients/families have completed study enrollment (19.8% recruitment rate).ConclusionsThe BNSU is an invaluable source of referral for patients with rare diseases from across the UK, and we currently have a 20% patient recruitment rate. However, there is a delay from study initiation to completion of patient recruitment. We could improve the relatively low rate of patient contact by establishing a formal system of regular follow-ups for consultants and an anonymised tracking system for BNSU-referred patients. Finally, we suggest the possibility of multi-source recruitment through Parkinson's UK, local study sites, geriatricians and PD nurses.

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