Reliability of functional outcome measures in adults with neurofibromatosis 1

Objectives: To determine intra-rater and inter-rater reliability of functional outcome measures in adults with neurofibromatosis 1 (NF1) and to ascertain how closely objective and subjective measures align. Methods: Forty-nine ambulant adults with NF1 aged 16 years and over were included in this observational study. Median age 31 years (range 16-66), 29 females, 20 males. Participants were video-recorded or photographed performing four functional outcome measures. Four raters from the Neurofibromatosis centre multi-disciplinary team independently scored the measures to determine inter-rater reliability. One rater scored the measures a second time on a separate occasion to determine intra-rater reliability. The measures evaluated were the functional reach, timed up and go, ten metre walk and a modified nine-hole peg tests. Participants also completed a disease specific quality of life questionnaire (INF1-QOL). Results: Inter-rater reliability and intra-rater reliability scores (intra-class coefficient, ICC) were similar for each outcome measure. Excellent rater agreement (ICC r ≥ 0.9) was found for the functional reach, timed up and go and the 10 metre walk tests. Rater agreement was good for the modified 9-hole peg test; ICC r= 0.75 for intra-rater reliability and 0.76 for inter-rater reliability. The timed up and go and the 10 metre walk tests correlated highly with perceived mobility challenges in the quality of life questionnaire (INF1-QOL). Conclusions: The functional reach, timed up and go and 10 metre walk tests are potentially useful outcome measures for monitoring NF1 treatment and will be assessed for validity and reliability in future multi-centre studies

Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

Approximately 27–36 million patients in Europe have one of the ~ 5.000–8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four European Reference Networks (ERNs) were launched with the aim to improve the care for these patients through cross border healthcare, in a way that the medical knowledge and expertise travels across the borders, rather than the patients. It is expected that through the ERNs, European patients with a rare disease get access to expert care more often and more quickly, and that research and guideline development will be accelerated resulting in improved diagnostics and therapies. The ERN on Genetic Tumour Risk Syndromes (ERN GENTURIS) aims to improve the identification, genetic diagnostics, prevention of cancer, and treatment of European patients with a genetic predisposition for cancer. The ERN GENTURIS focuses on syndromes such as hereditary breast cancer, hereditary colorectal cancer and polyposis, neurofibromatosis and more rare syndromes e.g. PTEN Hamartoma Tumour Syndrome, Li Fraumeni Syndrome and hereditary diffuse gastric cancer

Intellect in neurofibromatosis 1

SIGLEAvailable from British Library Document Supply Centre- DSC:DX188303 / BLDSC - British Library Document Supply CentreGBUnited Kingdo

Decision support for sensible dosing in electronic prescribing systems

What is known and Objective:? The sensible dosing of medicines can ensure that patients receive neither excessive doses leading to toxicity nor inappropriately low doses leading to undertreatment. Computerized prescribing systems with embedded decision support can check doses during prescription order entry and display alerts when the prescribed doses are out of range. We have been unable to identify any scheme for the systematic addition of dosing information to CPOE systems. We used pharmacological data to design an algorithm for dose range checking that we tested on a subset of medicines in an electronic prescribing system to ensure that the rules could be implemented in practice. Methods:? We drafted an initial algorithm based on pharmacological principles, tested it on a subset of frequently prescribed drugs in an electronic prescribing system and then refined it. We considered which clinical decision support functions systems would require to be maximally effective. Results and Discussion:? The final algorithm contained eleven broad factors. We tested it on 30 drug-route-form combinations, and it accommodated the information for all of these combinations. We also identified a variety of system functions that would be required for comprehensive dosing decision support. What is new and Conclusion:? The dose range checking algorithm that we have derived from first principles will allow the clinical workflow and warnings to be constructed more effectively within systems to enhance patient safety. This will form a basis for the development of optimal schemes for adding decision support to prescribing systems

Defining rewardable innovation in drug therapy

Implementing mechanisms for rewarding those who introduce innovative medicinal products requires a definition of 'rewardable innovation'. Here, we propose a definition of innovation with respect to medicinal products, accompanied by a ranking of the importance of different types of innovativeness, with the aim of providing a basis for rewarding such innovation

The nature of speech and language impairment in adults with neurofibromatosis

We evaluated the frequency, nature and severity of language, speech, reading and writing impairments in 30 adults with NF1. Spontaneous speech was recorded and selective language tasks were administered, as well as oral reading, written picture description, the NART and verbal ¯uency tasks. A distinctive pro®le of speech impairment was identi®ed, with hypernasality and abnormal rate, volume, pitch and articulation. Language function was relatively preserved but we detected a range of di�culties in the production of written language including spelling, dysgraphia, formation of cursive writing and lack of punctuation. Verbal fluency was markedly reduced in phonemic as opposed to semantic category generation. The cause of these patients' speech and writing disorders has not been determined but they may be due to a combination of impaired motor coordination and an inability to plan and sequence complex tasks