Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

<p>Abstract</p> <p>Background</p> <p>Microdeletion syndromes are generally identified because they usually give rise to specific phenotypic features; many of these deletions are mediated by duplicons or LCRs. The phenotypes associated with subtelomeric deletions are also becoming recognised. However, reciprocal duplication events at these loci are less easily recognised and identified, as they may give rise to milder phenotypic features, and the individuals carrying them may not therefore be referred for appropriate testing. 403 patients with developmental delay and/or dysmorphism, referred to our Genetics Centre for karyotyping and Fragile X expansion testing, were assessed for chromosome imbalance by Multiplex Ligation-dependent Probe Amplification (MLPA). Two MLPA kits were used, one containing probes for the subtelomere regions, and one containing probes for common microdeletion loci. 321 patients were tested with both kits, 75 with the subtelomere kit alone, and 7 with the microdeletion kit alone.</p> <p>Results</p> <p>32 patients had abnormal results; the overall abnormality detection rate was 2.5% for karyotype analysis and 7.2% for MLPA testing; 5.5% of subtelomere tests and 2.1% of microdeletion tests gave abnormal results. Of the abnormal MLPA results, 5 were in cases with cytogenetically visible abnormalities; of the remaining, submicroscopic, changes, 3 results were established as de novo and 8 were inherited; parental samples were not available for the remaining cases. None of the patients was found to have a Fragile X expansion.</p> <p>Conclusion</p> <p>Karyotype analysis in combination with MLPA assays for subtelomeres and microdeletion loci may be recommended for this patient group.</p

VIEWER:an extensible visual analytics framework for enhancing mental healthcare

ObjectiveA proof-of-concept study aimed at designing and implementing Visual &amp; Interactive Engagement With Electronic Records (VIEWER), a versatile toolkit for visual analytics of clinical data, and systematically evaluating its effectiveness across various clinical applications while gathering feedback for iterative improvements.Materials and MethodsVIEWER is an open-source and extensible toolkit that employs natural language processing and interactive visualization techniques to facilitate the rapid design, development, and deployment of clinical information retrieval, analysis, and visualization at the point of care. Through an iterative and collaborative participatory design approach, VIEWER was designed and implemented in one of the United Kingdom’s largest National Health Services mental health Trusts, where its clinical utility and effectiveness were assessed using both quantitative and qualitative methods.ResultsVIEWER provides interactive, problem-focused, and comprehensive views of longitudinal patient data (n = 409 870) from a combination of structured clinical data and unstructured clinical notes. Despite a relatively short adoption period and users’ initial unfamiliarity, VIEWER significantly improved performance and task completion speed compared to the standard clinical information system. More than 1000 users and partners in the hospital tested and used VIEWER, reporting high satisfaction and expressed strong interest in incorporating VIEWER into their daily practice.DiscussionVIEWER provides a cost-effective enhancement to the functionalities of standard clinical information systems, with evaluation offering valuable feedback for future improvements.ConclusionVIEWER was developed to improve data accessibility and representation across various aspects of healthcare delivery, including population health management and patient monitoring. The deployment of VIEWER highlights the benefits of collaborative refinement in optimizing health informatics solutions for enhanced patient care

Developing clinical informatics to support direct care and population health management:the VIEWER story

Electronic health records (EHRs) provide comprehensive patient data which could be better used to enhance informed decision-making, resource allocation, and coordinated care, thereby optimising healthcare delivery. However, in mental healthcare, critical information, such as on risk factors, precipitants, and treatment responses, is often embedded in unstructured text, limiting the ability to automate at scale measures to identify and prioritise local populationsand patients, which potentially hinders timely prevention and intervention. We describe the development and proof-of-concept implementation of VIEWER, a clinical informatics platform designed to enhance direct patient care and population health management by improving the accessibility and usability of EHR data. We further outline strategies that were employed in this work to foster informatics innovation through interdisciplinary and cross-organisational collaboration to support integrated, personalised care, and detail howthese advancements were piloted and implemented within a large UK mental health National Health Service Foundation Trust to improve patient outcomes at an individual patient, clinician, clinical team, and organisational level

Chromosome 22q11 deletions are not found in autistic patients identified using strict diagnostic criteria

A group of 103 subjects with a strict diagnosis of autism were tested for deletion of band q11.2 on the long arm of chromosome 22. No deletions were found, indicating that when a patient has been diagnosed with autism using strict and consistent criteria, in the absence of other indications, it is unlikely that this individual will have a 22q11 deletion. Testing for 22q11 deletions is therefore unlikely to be necessary in these patients. (C) 2000 Wiley-Liss, Inc