Performance Indicators and Benchmarks in Career Guidance in the United Kingdom

At European level, the use of indicators and benchmarks is an essential part of monitoring performance and progress towards the objective the EU has set itself of becoming the most competitive and dynamic knowledge-based economy in the world, capable of sustainable economic growth, with more and better jobs and greater social cohesion. To date, there are no European level indicators or benchmarks on guidance and improving quantitative and qualitative monitoring and evaluation is an issue currently under examination by the European Commission Expert Group on Lifelong Guidance

The Learning Agreement Pilot in Lancashire, England: supporting young people in jobs without training

The Learning Agreement Pilot (LAP) began in April 2006 in eight areas in England as part of the Government’s continuing commitment to improving the skills base of young people. Lancashire is one of the LAP areas, and CXL (formerly Connexions Lancashire) is working in partnership with the local Learning and Skills Council to re-engage in learning those 16 and 17-year-olds who are in jobs with no accredited training. CXL commissioned an evaluation of the first year of the Lancashire LAP, focussing on both its delivery and its impact on young people and employers. The Department for Children, Schools and Families (DCSF) commissioned two separate evaluations of the first year of the LAP nationally, one focussing on delivery and management issues and one focussing on a model of youth re-engagement to test aspects of policy

Measuring the Impact of Nextstep Career Advice in the North East of England

In September, 2007, the main contractors of the four nextstep networks in the North East (referred to in this paper as the ‘consortium’) successfully submitted a proposal to the Learning & Skills Council (LSC) for funding to develop a framework for measuring the impact of career advice. It was agreed that the project would result in a practice-based ‘Impact Toolkit’ that would include:- • a set of impact measures that should be used in the new adult careers service with a rationale for their inclusion; • methodologies for each of the impact measures identified; • approaches to obtaining information on progression in learning and work – with templates and case study material; • approaches to measuring soft outcomes; and • suggested Key Performance Indicators (KPIs)

Enabling global clinical collaborations on identifiable patient data: The Minerva Initiative

The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the growing clinical and research availability of sequencing technologies, precise deep and scalable phenotyping is required to serve unmet need in genetic and rare diseases. To improve the lives of individuals affected with rare diseases through deep phenotyping, global big data interrogation is necessary to aid our understanding of disease biology, assist diagnosis, and develop targeted treatment strategies. This includes the application of cutting-edge machine learning methods to image data. As with most digital tools employed in health care, there are ethical and data governance challenges associated with using identifiable personal image data. There are also risks with failing to deliver on the patient benefits of these new technologies, the biggest of which is posed by data siloing. The Minerva Initiative has been designed to enable the public good of deep phenotyping while mitigating these ethical risks. Its open structure, enabling collaboration and data sharing between individuals, clinicians, researchers and private enterprise, is key for delivering precision public health

Career Guidance for Adults in Wales - Making a Difference

The Careers Wales Chief Executives’ group is delighted to endorse the publication of the adult impact assessment conducted by the Quality Managers of the six Careers Wales Companies and welcome with interest the foreword prepared by the Centre for Guidance Studies. This is the first assessment of the impact of the provision of adult guidance by Careers Wales, and it offers a useful insight into the value of careers guidance to our clients and to the Welsh Assembly Government's agenda of lifelong learning up-skilling the workforce and getting more people into employment. In particular, the research provides a useful foundation for similar work to be conducted on the impact of careers guidance services to other client groups across Wales

Silver Russel syndrome in an aboriginal patient from Australia

Silver-Russell syndrome (SRS OMIM 180860) is a rare, albeit well-recognized disorder characterized by severe intrauterine and postnatal growth retardation. It remains a clinical diagnosis with a molecular cause identifiable in approximately 60%–70% of patients. We report a 4-year-old Australian Aboriginal girl who was born at 32 weeks gestation with features strongly suggestive of SRS, after extensive investigation she was referred to our undiagnosed disease program (UDP). Genomic sequencing was performed which identified a heterozygous splice site variant in IGF2 which is predicted to be pathogenic by in-silico studies, paternal allelic origin, de novo status, and RNA studies on fibroblasts. We compare clinical findings with reported patients to add to the knowledge base on IGF2 variants and to promote the engagement of other Australian Aboriginal families in genomic medicine

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.

Objective The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy. Methods Through diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher and our international network, we collected 10 patients with biallelic QARS variants. In addition, we collected data on 12 patients described in the literature to further delineate the associated phenotype in a total cohort of 22 patients. Computer modeling was used to assess changes on protein folding. Results Biallelic pathogenic variants in QARS cause a triad of progressive microcephaly, moderate to severe developmental delay, and early-onset epilepsy. Microcephaly was present at birth in 65%, and in all patients at follow-up. Moderate (14%) or severe (73%) developmental delay was characteristic, with no achievement of sitting (85%), walking (86%), or talking (90%). Additional features included irritability (91%), hypertonia/spasticity (75%), hypotonia (83%), stereotypic movements (75%), and short stature (56%). Seventy-nine percent had pharmacoresistant epilepsy with mainly neonatal onset. Characteristic cranial MRI findings include early-onset progressive atrophy of cerebral cortex (89%) and cerebellum (61%), enlargement of ventricles (95%), and age-dependent delayed myelination (88%). A small subset of patients displayed a less severe phenotype. Conclusions These data revealed first genotype-phenotype associations and may serve for improved interpretation of new QARS variants and well-founded genetic counseling