-
International Psychogeriatrics Apr 2022While early diagnosis of younger-onset dementia (YOD) is crucial in terms of accessing appropriate services and future planning, diagnostic delays are common. This study...
OBJECTIVES
While early diagnosis of younger-onset dementia (YOD) is crucial in terms of accessing appropriate services and future planning, diagnostic delays are common. This study aims to identify predictors of delay to diagnosis in a large sample of people with YOD and to investigate the impact of a specialist YOD service on this time to diagnosis.
DESIGN
A retrospective cross-sectional study.
SETTING
The inpatient unit of a tertiary neuropsychiatry service in metropolitan Victoria, Australia.
PARTICIPANTS
People diagnosed with a YOD.
MEASUREMENTS AND METHODS
We investigated the following predictors using general linear modeling: demographics including sex and location, age at onset, dementia type, cognition, psychiatric diagnosis, and number of services consulted with prior to diagnosis.
RESULTS
A total of 242 inpatients were included. The mean time to diagnosis was 3.4 years. Significant predictors of delay included younger age at onset, dementia type other than Alzheimer's disease (AD) and behavioral-variant frontotemporal dementia (bvFTD), and increased number of services consulted. These predictors individually led to an increased diagnostic delay of approximately 19 days, 5 months, and 6 months, respectively. A specialized YOD service reduced time to diagnosis by 12 months.
CONCLUSION
We found that younger age at onset, having a dementia which was not the most commonly occurring AD or bvFTD, and increasing number of services were significant predictors of diagnostic delay. A novel result was that a specialist YOD service may decrease diagnostic delay, highlighting the importance of such as service in reducing time to diagnosis as well as providing post-diagnostic support.
Topics: Age of Onset; Alzheimer Disease; Cross-Sectional Studies; Delayed Diagnosis; Diagnostic Services; Frontotemporal Dementia; Humans; Retrospective Studies
PubMed: 32854788
DOI: 10.1017/S1041610220001489 -
The Journal of Molecular Diagnostics :... Sep 2019Developments in diagnostics reform legislation in the United States are occurring at a rapid pace. The framework for future regulatory oversight of clinical laboratory... (Review)
Review
Developments in diagnostics reform legislation in the United States are occurring at a rapid pace. The framework for future regulatory oversight of clinical laboratory testing is currently under intensive debate among stakeholders that represent patients, practitioners, laboratories, diagnostic manufacturers, and regulators. The importance of clinical laboratory test standardization is a key component of any plan for regulatory reform. A laboratory-developed test is performed in a specific laboratory setting, often led by clinical laboratory professionals who possess specific expertise for developing and running the test to fill a clinical need. A test commercially marketed as an in vitro diagnostic kit is designed to operate across a spectrum of laboratory settings in laboratories with a range of expertise. Both types of tests are stringently regulated, laboratory-developed tests by the Clinical Laboratory Improvement Amendments and in vitro diagnostic kits by the US Food and Drug Administration. Interlaboratory comparisons of laboratory-developed tests have been published, demonstrating highly reproducible results. Comparisons of laboratory-developed tests with in vitro diagnostic kits have also found high concordance. Several important clinical laboratory test standardization projects are currently under way. The US Food and Drug Administration has acknowledged the need for such standardization. In its most recent draft guidance, the agency requested input from the scientific community as to actions that can be taken to facilitate standardization.
Topics: Clinical Laboratory Services; Clinical Laboratory Techniques; Humans; Quality Assurance, Health Care; United States; United States Food and Drug Administration
PubMed: 31075512
DOI: 10.1016/j.jmoldx.2019.04.002 -
International Journal of Audiology Apr 2021The purpose of this scoping review was two-fold, (1) to provide information about the characteristics, type of service delivery, participant information and outcomes... (Review)
Review
OBJECTIVE
The purpose of this scoping review was two-fold, (1) to provide information about the characteristics, type of service delivery, participant information and outcomes related to tele-audiology in clinical popluations, and (2) to describe documented facilitators and barriers to tele-audiology delivery from the perspectives of practitioners and service recipients. Knowledge of these findings can assist audiologists in considering remote service delivery options for their practices.
DESIGN
A scoping review was conducted in November 2019 to identify English-language peer-reviewed journal articles published from 1 January 2010 to 30 October 2019 related to remote clinical service delivery in audiology.
RESULTS
Thirty-six published research articles were included. Research studies were classified into four broad areas with some articles including more than one area within the scope of their article: Screening ( = 5), Diagnostic ( = 5), Intervention ( = 18), and Perspectives ( = 22).
CONCLUSION
Hearing healthcare service delivery is expanding with the changing technological landscape, providing greater opportunities and flexibility for audiologists and patients. There are clear opportunities for interdisciplinary collaboration and for collaboration with on-site local facilitators. Local facilitators, with training, can assist in connecting individuals to follow-up care, provide educational support, and needed hands-on assistance for specialised testing.
Topics: Audiologists; Audiology; Hearing Tests; Humans; Mass Screening; Telemedicine
PubMed: 32909470
DOI: 10.1080/14992027.2020.1817994 -
AJR. American Journal of Roentgenology Feb 2020Fast breast MRI protocols have the same sensitivity as conventional protocols, but their specificity is variable and can be inadequate. An ultrafast sequence provides... (Review)
Review
Fast breast MRI protocols have the same sensitivity as conventional protocols, but their specificity is variable and can be inadequate. An ultrafast sequence provides early enhancement of lesion characteristics that optimize the characterization of the fast protocol, increasing positive predictive values without increasing time. These new abbreviated protocols could constitute a viable screening tool both for women at high risk of breast cancer and for those at intermediate risk with high breast density.
Topics: Breast Neoplasms; Clinical Protocols; Contrast Media; Early Detection of Cancer; Female; Humans; Magnetic Resonance Imaging; Mass Screening; Sensitivity and Specificity
PubMed: 31825262
DOI: 10.2214/AJR.19.21924 -
Consolidation of Clinical Microbiology Laboratories and Introduction of Transformative Technologies.Clinical Microbiology Reviews Mar 2020Clinical microbiology is experiencing revolutionary advances in the deployment of molecular, genome sequencing-based, and mass spectrometry-driven detection,... (Review)
Review
Clinical microbiology is experiencing revolutionary advances in the deployment of molecular, genome sequencing-based, and mass spectrometry-driven detection, identification, and characterization assays. Laboratory automation and the linkage of information systems for big(ger) data management, including artificial intelligence (AI) approaches, also are being introduced. The initial optimism associated with these developments has now entered a more reality-driven phase of reflection on the significant challenges, complexities, and health care benefits posed by these innovations. With this in mind, the ongoing process of clinical laboratory consolidation, covering large geographical regions, represents an opportunity for the efficient and cost-effective introduction of new laboratory technologies and improvements in translational research and development. This will further define and generate the mandatory infrastructure used in validation and implementation of newer high-throughput diagnostic approaches. Effective, structured access to large numbers of well-documented biobanked biological materials from networked laboratories will release countless opportunities for clinical and scientific infectious disease research and will generate positive health care impacts. We describe why consolidation of clinical microbiology laboratories will generate quality benefits for many, if not most, aspects of the services separate institutions already provided individually. We also define the important role of innovative and large-scale diagnostic platforms. Such platforms lend themselves particularly well to computational (AI)-driven genomics and bioinformatics applications. These and other diagnostic innovations will allow for better infectious disease detection, surveillance, and prevention with novel translational research and optimized (diagnostic) product and service development opportunities as key results.
Topics: Animals; Artificial Intelligence; Automation; Clinical Laboratory Services; Clinical Laboratory Techniques; Communicable Diseases; Humans
PubMed: 32102900
DOI: 10.1128/CMR.00057-19 -
The Journal of Molecular Diagnostics :... Apr 2022Coronavirus disease 2019 (COVID-19) undermines control of other infectious diseases. Diagnostics are critical in health care. This opinion paper explores approaches for... (Review)
Review
Coronavirus disease 2019 (COVID-19) undermines control of other infectious diseases. Diagnostics are critical in health care. This opinion paper explores approaches for leveraging diagnostics for COVID-19 while retaining diagnostics for other infectious diseases, including tuberculosis (TB) and HIV. The authors reflect on experiences with GeneXpert technology for TB detection and opportunities for integration with other diseases. They also reflect on benefits and risks of integration. Placement of diagnostics in laboratory networks is largely nonintegrated and designated for specific diseases. Restricting the use of diagnostics leaves gaps in detection of TB, HIV, malaria, and COVID-19. Integrated laboratory systems can lead to more efficient testing while increasing access to critical diagnostics. However, the authors have observed that HIV diagnosis within the TB diagnostic network displaced TB diagnosis. Subsequently, COVID-19 disrupted both TB and HIV diagnosis. The World Health Organization recommended rapid molecular diagnostic networks for infectious diseases and there is a need for more investment to achieve diagnostic capacity for TB, HIV, COVID-19, and other emerging infectious diseases. Integrated laboratory systems require mapping laboratory networks, assessing needs for each infectious disease, and identifying resources. Otherwise, diagnostic capacity for one infectious disease may displace another. Further, not all aspects of optimal diagnostic networks fit all infectious diseases, but many efficiencies can be gained where integration is possible.
Topics: COVID-19; Developing Countries; Diagnostic Services; HIV Infections; Humans; Tuberculosis
PubMed: 35123038
DOI: 10.1016/j.jmoldx.2021.12.008 -
BMJ Open Dec 2021Waiting times in the UK for an autism diagnostic assessment have increased rapidly in the last 5 years. This review explored research (including 'grey' literature) to... (Review)
Review
OBJECTIVES
Waiting times in the UK for an autism diagnostic assessment have increased rapidly in the last 5 years. This review explored research (including 'grey' literature) to uncover the current evidence base about autism diagnostic pathways and what works best, for whom and in what circumstances, to deliver high quality and timely diagnosis.
DESIGN
We performed a Rapid Realist Review consistent with recognised standards for realist syntheses. We collected 129 grey literature and policy/guidelines and 220 articles from seven databases (January 2011-December 2019). We developed programme theories of how, why and in what contexts an intervention worked, based on cross comparison and synthesis of evidence. The focus was on identifying factors that contributed to a clearly defined intervention (the diagnostic pathway), associated with specific outcomes (high quality and timely), within specific parameters (Autism diagnostic services in Paediatric and Child & Adolescent Mental Health services in the UK). Our Expert Stakeholder Group, including representatives from local parent forums, national advocacy groups and clinicians, was integral to the process.
RESULTS
Based on 45 relevant articles, we identified 7 programme theories that were integral to the process of diagnostic service delivery. Four were related to the clinical pathway: initial recognition of possible autism; referral and triaging; diagnostic model; and providing feedback to parents. Three programme theories were pertinent to all stages of the referral and diagnostic process: working in partnership with families; interagency working; and training, service evaluation and development.
CONCLUSIONS
This theory informed review of childhood autism diagnostic pathways identified important aspects that may contribute to efficient, high quality and family-friendly service delivery. The programme theories will be further tested through a national survey of current practice and in-depth longitudinal case studies of exemplar services.
TRIAL REGISTRATION NUMBER
NCT04422483.
Topics: Adolescent; Autistic Disorder; Child; Humans; Parents; Referral and Consultation
PubMed: 34907053
DOI: 10.1136/bmjopen-2021-051241 -
Research in Developmental Disabilities Oct 2019Fetal alcohol spectrum disorder (FASD) is of significant concern for Australians for many reasons, one being Australia's drinking culture which increases the potential...
BACKGROUND
Fetal alcohol spectrum disorder (FASD) is of significant concern for Australians for many reasons, one being Australia's drinking culture which increases the potential for FASD to occur.
AIMS
The current study aimed to explore the lived experiences of Australian caregivers who received a FASD diagnosis for a child in their care, usingthe Australian Guide to the Diagnosis of FASD.
METHODS AND PROCEDURES
Semi-structured interviews were conducted with seven caregivers whose children were assessed for FASD by a multidisciplinary team. Interviews explored how families experienced the FASD diagnostic process, and sought insight into outcomes for families following diagnosis, particularly in relation to accessing supports and services.
OUTCOMES AND RESULTS
Through thematic analysis, five overarching themes were identified: (1) receiving a FASD diagnosis had a positive impact; (2) caregivers' evaluation of assessment process; (3) positive support services relative to FASD; (4) ongoing difficulties regardless of diagnosis; and (5) need for societal knowledge of FASD.
CONCLUSIONS AND IMPLICATIONS
Given the global need for standardised FASD diagnostic procedures and accurate reporting of prevalence rates, the current study provides a contribution to the emerging diagnostic FASD literature, and insight into families' experiences who have children diagnosed with FASD.
WHAT THIS PAPER ADDS
This study provides additional information to the developing pool of literature attempting to create a typical profile of FASD. Most importantly, this paper highlights the implementation of the Australian Guide to the Diagnosis of FASD, and evaluates caregivers' experiences of their child's FASD assessment process, within a public FASD diagnostic service, using the revised guidelines.
Topics: Adult; Alcohol Drinking; Attitude of Health Personnel; Australia; Child; Diagnostic Services; Family; Family Health; Female; Fetal Alcohol Spectrum Disorders; Humans; Male; Middle Aged; Outcome and Process Assessment, Health Care; Practice Guidelines as Topic; Prevalence; Qualitative Research
PubMed: 31357176
DOI: 10.1016/j.ridd.2019.103428 -
Critical Reviews in Clinical Laboratory... Jun 2022Mucopolysaccharidosis type I (MPS I), a lysosomal storage disease caused by a deficiency of α-L-iduronidase, leads to storage of the glycosaminoglycans, dermatan...
Mucopolysaccharidosis type I (MPS I), a lysosomal storage disease caused by a deficiency of α-L-iduronidase, leads to storage of the glycosaminoglycans, dermatan sulfate and heparan sulfate. Available therapies include enzyme replacement and hematopoietic stem cell transplantation. In the last two decades, newborn screening (NBS) has focused on early identification of the disorder, allowing early intervention and avoiding irreversible manifestations. Techniques developed and optimized for MPS I NBS include tandem mass-spectrometry, digital microfluidics, and glycosaminoglycan quantification. Several pilot studies have been conducted and screening programs have been implemented worldwide. NBS for MPS I has been established in Taiwan, the United States, Brazil, Mexico, and several European countries. All these programs measure α-L-iduronidase enzyme activity in dried blood spots, although there are differences in the analytical strategies employed. Screening algorithms based on published studies are discussed. However, some limitations remain: one is the high rate of false-positive results due to frequent pseudodeficiency alleles, which has been partially solved using post-analytical tools and second-tier tests; another involves the management of infants with late-onset forms or variants of uncertain significance. Nonetheless, the risk-benefit ratio is favorable. Furthermore, long-term follow-up of patients detected by neonatal screening will improve our knowledge of the natural history of the disease and inform better management.
Topics: Heparitin Sulfate; Humans; Iduronidase; Infant; Infant, Newborn; Mucopolysaccharidosis I; Neonatal Screening; Tandem Mass Spectrometry
PubMed: 35037566
DOI: 10.1080/10408363.2021.2021846 -
Clinics in Perinatology Mar 2020Critically ill neonates experience high rates of morbidity and mortality. Major diagnostic errors are identified in up to 20% of autopsied neonatal intensive care unit... (Review)
Review
Critically ill neonates experience high rates of morbidity and mortality. Major diagnostic errors are identified in up to 20% of autopsied neonatal intensive care unit deaths. Neonates with undiagnosed or rare congenital disorders may mimic critically ill neonates with more common acquired conditions. The context of the diagnostic evaluation can introduce unique biases that increase the likelihood of diagnostic error. Herein is presented a framework for understanding diagnostic errors in perinatal medicine, and individual, team, and systems-based solutions for improving diagnosis learned through the implementation and administration of an undiagnosed and rare disease program.
Topics: Diagnosis, Differential; Diagnostic Errors; Humans; Infant, Newborn; Intensive Care Units, Neonatal; Neonatal Screening; Perinatology; Rare Diseases
PubMed: 32000918
DOI: 10.1016/j.clp.2019.10.002