scholarly journals Prevalence three ways: Comparison of linked data from a patient register and electronic health records with allowance for linkage error

2019 ◽  
Vol 4 (3) ◽  
Author(s):  
James Doidge ◽  
Joan Morris ◽  
Katie Harron ◽  
Sarah Stevens ◽  
Ruth Gilbert
Keyword(s):  
Linked Data ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Bias Analysis ◽  
Health Records ◽  
Live Births ◽  
Linkage Error ◽  
Quantitative Bias Analysis ◽  
Over Time

Background with rationalePatient registers and electronic health records are both valuable resources for disease surveillance but can be limited by variation in data quality over time. Variation may stem from changes in data collection methods, in the accuracy or completeness of clinical information, or in the quality of patient identifiers and the linkage that relies on these. Main AimBy linking the National Down Syndrome Cytogenetic Register (NDSCR) to Hospital Episode Statistics for England (HES), we aimed to assess the quality of each and establish a consistent approach for analysis of trends in prevalence of Down’s syndrome among live births in England. Methods/ApproachProbabilistic record linkage of NDSCR to HES for the period 1998–2013, supported by linkage of babies to mothers within HES. Comparison of prevalence estimates in England using NDSCR only, HES data only, and linked data. Capture-recapture analysis and quantitative bias analysis were used to account for potential errors, including false positive diagnostic codes, unrecorded diagnoses, and linkage error. ResultsAnalyses of single-source data indicated increasing live birth prevalence of Down’s syndrome, particularly steep in analysis of HES. Linked data indicated a contrastingly stable prevalence of 12.3 cases per 10,000 live births, with a plausible range of 11.6–12.7 cases per 10,000 live births allowing for potential errors. Conclusion Case ascertainment in NDSCR improved slightly over time, creating a picture of slowly increasing prevalence. The emerging epidemic suggested by HES primarily reflects improving linkage within HES (assignment of unique patient identifiers to hospital episodes). Administrative data are valuable but trends should be interpreted with caution, and with assessment of data quality over time. Linked data with quantitative bias analysis can provide more robust estimation and, in this case, reassurance that prevalence of Down’s syndrome is not increasing. Routine linkage of administrative and register data can enhance the value of each.

scholarly journals Prevalence of Down's Syndrome in England, 1998–2013

2020 ◽  
Vol 5 (1) ◽  
Author(s):  
James C Doidge ◽  
Joan K Morris ◽  
Katie L Harron ◽  
Sarah Stevens ◽  
Ruth Gilbert
Keyword(s):  
Data Quality ◽  
Linked Data ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Time Data ◽  
Bias Analysis ◽  
Birth Prevalence ◽  
Live Births ◽  
Quantitative Bias Analysis ◽  
Over Time

IntroductionDisease registers and electronic health records are valuable resources for disease surveillance and research but can be limited by variation in data quality over time. Quality may be limited in terms of the accuracy of clinical information, of the 'internal linkage' that supports person-based analysis of most administrative datasets, or by errors in linkage between multiple datasets. ObjectivesBy linking the National Down Syndrome Cytogenetic Register (NDSCR) to Hospital Episode Statistics for England (HES), we aimed to assess the quality of each and establish a consistent approach for analysis of trends in prevalence of Down’s syndrome among live births in England. MethodsProbabilistic record linkage of NDSCR to HES for the period 1998–2013, supported by linkage of babies to mothers within HES. Comparison of prevalence estimates in England using NDSCR only, HES data only, and linked data. Capture-recapture analysis and quantitative bias analysis were used to account for potential errors, including false positive diagnostic codes, unrecorded diagnoses, and linkage error. ResultsAnalyses of single-source data indicated increasing live birth prevalence of Down’s Syndrome, particularly analysis of HES. Linked data indicated a contrastingly stable prevalence of 12.3 (plausible range: 11.6–12.7) cases per 10 000 live births. ConclusionsCase ascertainment in NDSCR improved slightly over time, creating a picture of slowly increasing prevalence. The emerging epidemic suggested by HES primarily reflects improving linkage within HES (assignment of unique patient identifiers to hospital episodes). Administrative data are valuable but trends should be interpreted with caution, and with assessment of data quality over time. Data linkage with quantitative bias analysis can provide more robust estimation and, in this case, reassurance that prevalence is not increasing. Routine linkage of administrative and register data can enhance the value of each.

scholarly journals Reflections on modern methods: linkage error bias

2019 ◽  
Author(s):  
James C Doidge ◽  
Katie L Harron
Keyword(s):  
Selection Bias ◽  
Linked Data ◽  
Primary Research ◽  
Bias Analysis ◽  
Data Measurement ◽  
Information Bias ◽  
Key Concepts ◽  
Linkage Error ◽  
Error Bias ◽  
Quantitative Bias Analysis

Abstract Linked data are increasingly being used for epidemiological research, to enhance primary research, and in planning, monitoring and evaluating public policy and services. Linkage error (missed links between records that relate to the same person or false links between unrelated records) can manifest in many ways: as missing data, measurement error and misclassification, unrepresentative sampling, or as a special combination of these that is specific to analysis of linked data: the merging and splitting of people that can occur when two hospital admission records are counted as one person admitted twice if linked and two people admitted once if not. Through these mechanisms, linkage error can ultimately lead to information bias and selection bias; so identifying relevant mechanisms is key in quantitative bias analysis. In this article we introduce five key concepts and a study classification system for identifying which mechanisms are relevant to any given analysis. We provide examples and discuss options for estimating parameters for bias analysis. This conceptual framework provides the ‘links’ between linkage error, information bias and selection bias, and lays the groundwork for quantitative bias analysis for linkage error.

To Find out the Value of Hypermobility in Down’s Syndrome

2021 ◽  
pp. 1-4
Author(s):  
Vadivelan Kanniappan ◽  
Keyword(s):  
Chromosomal Abnormalities ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Joint Hypermobility ◽  
Chromosome 21 ◽  
Knee Joints ◽  
Trunk Flexion ◽  
Total Point ◽  
Study Setting

Background: Down syndrome, the result of trisomy of chromosome 21, is one of the most common chromosomal abnormalities. Patients have a characteristic 8 facial appearance, variable levels of intelligence and self-care skills, and a variety of associated medical conditions. Orthopaedic manifestations occur frequently; most are related to hypotonia, joint hypermobility, and ligamentous laxity. Objective: Aim of the study is to find out the value of hyper mobility in down’s syndrome. Methodology: 30 Subjects including in my study ,study duration is 4 weeks, study setting is Maithree Special School, NIEPMD, REC Centre SRM Hospital. Outcome Measures: Beighton Scale, Goniometre Results: This beighton scale consists of goniometer measurement of thumb, metacarcophalangeal joints ,elbow joint , knee joints,trunk flexion .total point (9) point.50%of sample was scored 9 point.10%of sample was scored 8 point.7%of sample was s cored 7 points.35%of sample was scored 6 points. Conclusion: This study concluded that Down’s Syndrome children has hypermobility which needs to be investigated early and treated for better quality of life.

Estimating the number of people with Down’s syndrome in Scotland and the cohort at elevated risk of early onset dementia

2017 ◽  
Vol 22 (3) ◽  
pp. 164-171
Author(s):  
Claire Stuart
Keyword(s):  
Early Onset ◽  
Response Rate ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Elevated Risk ◽  
Outcome Variable ◽  
Content Type ◽  
Early Onset Dementia ◽  
Gp Services

Purpose The purpose of this paper is to estimate the size of the population of people with Down’s syndrome in Scotland in order to provide a basis for estimating likely numbers of people with dementia in Down’s syndrome at a range of ages. Design/methodology/approach Recorded data were requested from all general practitioner (GP) services in Scotland on people with an identified READ code denoting Down’s syndrome. A statistical weighting model was then applied to account for non-response bias. Findings There were 3,261 people with Down’s syndrome estimated by the application of a statistical weighting model. Of these, 1,118 people (34 percent) were aged between 40 and 59. This age banding includes the age groups reported as having the highest incidence of early onset dementia in Down’s syndrome. Research limitations/implications It is not possible to apply a benchmark to the percentage of observed data which gives an indication of how accurate the estimates produced are. Rather, the quality of the estimates depends on the response rate itself and the extent to which response is correlated with the outcome variable. In short, the quality of the final weighted estimates depends on the extent to which the biasing effect is mitigated by the weighting. As a result, a different response rate to this survey would have resulted in variations in the weighting model and therefore provided a different set of estimates. Social implications Adults with Down’s syndrome have an elevated risk of developing dementia significantly earlier than the general population and require specific age appropriate supports and services to meet their needs both pre and post-diagnosis. The reality of this is currently not fully realized in either standard practice or national policy concerning the issue. Originality/value This is the first set of data collected from GP services in Scotland to examine this issue and attempt to identify the population of people with Down’s syndrome in Scotland as a whole.

Serial Microbiota Analysis after Fecal Microbiota Transplantation in a Child with Down's Syndrome

2017 ◽  
Vol 14 (03) ◽  
pp. 136-139
Author(s):  
Lisethe Meijer ◽  
Clementien Vermont ◽  
Andries Budding ◽  
Chris Mulder ◽  
Tim Meij ◽  
...  
Keyword(s):  
Fecal Microbiota Transplantation ◽  
Diversity Index ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Fecal Microbiota ◽  
Recurrent Clostridium Difficile Infection ◽  
Microbiota Analysis ◽  
Before And After ◽  
Immunocompromised State ◽  
Over Time

AbstractFecal microbiota transplantation (FMT) is a very effective treatment for recurrent Clostridium difficile infection (CDI) in adults. However, there is a paucity of data on FMT in children and associated microbiome changes in this particular group. We describe a child with Down's syndrome and intracranial malignancy, who received FMT for recurrent CDI. Detailed microbiota analysis before and after FMT, and pre- and post-recurrence, linked to microbial communities in the donor feces showed that the patient developed a unique microbiota profile after FMT which was very stable over time despite CDI recurrence and subsequent fidaxomicin therapy. Bacteroidetes were stably acquired from donor feces, while Firmicutes, Actinobacteria, Fusobacteria, Verrucomicrobia, and Proteobacteria were unique to the patient. The diversity of microbiota of the patient increased from a Shannon diversity index of 2.08 pre-FMT to 3.12 post-FMT. Our findings underscore that patients with Down's syndrome may well tolerate and benefit from FMT even in a severely immunocompromised state.

scholarly journals Reliability of Statistics on Down's Syndrome Notifications

1997 ◽  
Vol 4 (2) ◽  
pp. 95-97 ◽  
Author(s):  
T Huang ◽  
H C Watt ◽  
N J Wald ◽  
J K Morris ◽  
D Mutton ◽  
...  
Keyword(s):  
Maternal Age ◽  
Antenatal Diagnosis ◽  
Down's Syndrome ◽  
Age Distribution ◽  
Down’S Syndrome ◽  
England And Wales ◽  
Birth Prevalence ◽  
Live Births ◽  
National Statistics ◽  
Using Data

Objectives— To evaluate the completeness of notifications of Down's syndrome live births and terminations to the Office for National Statistics (ONS) using data from the National Down Syndrome Cytogenetic Register (NDSCR). To examine the agreement of observed birth prevalence of Down's syndrome with the expected birth prevalence derived from published maternal age specific rates. Methods— The number of live births (adjusted to allow for the estimated under-ascertainment) and the number of terminations due to fetal Down's syndrome from NDSCR were compared with those figures reported to the ONS. Subsequently, using the NDSCR figures, the live birth prevalence of Down's syndrome that would have occurred in the absence of antenatal diagnosis and selective termination was calculated in England and Wales in the years 1990–1993. These figures were compared with those derived by applying published age specific prevalences to the maternal age distribution in England and Wales. Results— It is estimated that only 48% and 46% respectively of Down's syndrome live births and terminations of pregnancy were notified to ONS between 1990 and 1993. The annual expected birth prevalences of Down's syndrome obtained by applying maternal age specific prevalences to the maternal age distribution were in close agreement with observed rates from NDSCR. Conclusions— There is considerable underreporting of Down's syndrome births and terminations to ONS. The NDSCR data are more complete and therefore the effects of screening should be monitored using data from this source, or using estimates derived from the age specific rates of Down's syndrome.

scholarly journals Multiple subpleural cysts in the lungs in a child with Down’s syndrome

2021 ◽  
Vol 66 (4) ◽  
pp. 95-100
Author(s):  
N. S. Lev ◽  
M. V. Kostyuchenko ◽  
I. E. Zorina ◽  
L. V. Sokolova ◽  
Yu. L. Mizernitsky
Keyword(s):  
Cognitive Impairment ◽  
Pulmonary Disease ◽  
Chromosomal Abnormality ◽  
Clinical Case ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Common Cause ◽  
Live Births ◽  
Dysmorphic Features ◽  
Pulmonary Pathology

Down’ssyndrome is the most common chromosomal abnormality in live births. Due to the complete or partialtrisomy of chromosome 21the Down’s syndrome causes cognitive impairment, dysmorphic features and congenital mal formations. Pulmonary disease is the most common cause of death in patients with Down’s syndrome. The article highlights the pulmonological problems of the patients, and it also describes a clinical case of a child with Down’s syndrome with pulmonary pathology.

Walking capacity in boys with Down's syndrome in Saudi Arabia

2020 ◽  
Vol 27 (2) ◽  
pp. 1-9
Author(s):  
Hatem H Allam ◽  
Mosfer A Al-Walah ◽  
Lamiaa K Elsayyad
Keyword(s):  
Physical Activity ◽  
Saudi Arabia ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Activity Levels ◽  
Typical Development ◽  
Walking Capacity ◽  
6 Minute Walk Test ◽  
Minute Walk

Background/Aims Children with Down's syndrome are often considered to be sedentary and less likely to engage in the recommended levels of physical activity. The aim of this study was to compare the walking capacity of male children with Down's syndrome with a group of typically healthy age-matched children in Saudi Arabia. Methods A total of 78 male children aged from 8 to 12 years participated in the study. They were divided into two groups. The first group comprised 37 male children with Down's syndrome, recruited from the Down's Syndrome Charitable Association and Al-Nahda Schools. The second group comprised 41 male children with typical development, who were recruited from regular schools in the same region. Walking capacity was measured with the 6-Minute Walk Test. Results The children with Down's syndrome had significantly reduced 6-Minute Walk Distance scores than children with typical development. Conclusions There is a need to establish good strategies, programmes and early interventions designed to promote physical activity levels and improve the quality of life for people with Down's syndrome.

WHOSE CHROMOSOMES TO COUNT IN MONGOLISM?

PEDIATRICS ◽  
1965 ◽  
Vol 36 (4) ◽  
pp. 620-623
Author(s):  
R. James McKay
Keyword(s):  
Chromosomal Abnormality ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Laboratory Method ◽  
Practical Approach ◽  
Live Births ◽  
Normal Phenotype ◽  
Theoretical Ratio ◽  
The Family ◽  
Phenotype Characteristic

Every physician who must make decisions in the management of a child with Down's syndrome faces the problem of whether or not chromosomal analyses should be done and, if so, upon which members of the family. The purpose of such analyses is the identification of those individuals who may be expected to have an increased incidence of mongolism among their offspring as a result of a translocation of a 21 chromosome, a 21 isochromosome, mosaicism for 21-trisomy, or 21-trisomy itself. However, the high cost and difficulty of obtaining chromosomal analyses require that their number be kept to the minimum necessary, and that appropriate short cuts in the laboratory method also be applied whenever possible. The following paragraphs will attempt to lay a base for, and to outline, a logical and practical approach to the chromosomal screening of relatives of patients with Down's syndrome. Table I lists various parental abnormalities involving the 21 chromosome, together with the theoretical proportion of cases of mongolism to total live births for each. In considering this table, the reader should keep in mind that it refers to an estimated 1 or 2% only of parents of patients with Down's syndrome. In an estimated 98-99% of instances, both parents are chromosomaliy normal. Although the observed proportion of cases of mongolism to total live births approximates the theoretical ratio among the infants of mothers with the phenotype characteristic of Down's syndrome, the observed proportion is lower than the theoretical ratio among the children of parents with a normal phenotype and a chromosomal abnormality predisposing to mongoloid offspring.

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