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.

The effects of educator attitudes and expectations on the educational programming for children with Down's Syndrome in the context of integration

1988 ◽  
Vol 2 ◽  
pp. 43-48
Author(s):  
Cam Wright
Keyword(s):  
Mental Retardation ◽  
Chromosomal Abnormalities ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Severe Mental Retardation ◽  
Educational Programming ◽  
Educator Attitudes

Down's Syndrome has long been associated with mental retardation. This has resulted in expectations of moderate or severe mental retardation in individuals with Down's Syndrome (Hopkins, 1983). Although there has been acceptance of the possibility of variability of attainments, a certain predictability of outcome has been assumed since Down's Syndrome is a condition resulting from known chromosomal abnormalities (Springer & Steele, 1980; Hopkins, 1983).

Down's syndrome and the molecular biology of chromosome 21

1988 ◽  
Vol 30 (6) ◽  
pp. 507-530 ◽  
Author(s):  
David N. Cooper ◽  
Christine Hall
Keyword(s):  
Molecular Biology ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosome 21

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.

Informed choice to undergo prenatal screening: a comparison of two hospitals conducting testing either as part of a routine visit or requiring a separate visit

2002 ◽  
Vol 9 (3) ◽  
pp. 109-114 ◽  
Author(s):  
E. Dormandy ◽  
R. Hooper ◽  
S. Michie ◽  
T.M. Marteau
Keyword(s):  
Prenatal Screening ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Informed Choice ◽  
Test Results ◽  
Negative Attitudes ◽  
Multidimensional Measure ◽  
Positive Attitudes ◽  
The Difference ◽  
Study Setting

BACKGROUND: It is not known which of two common methods of conducting prenatal screening best facilitate women making informed choices. OBJECTIVE: To describe rates of informed choice in two hospitals: one where screening for Down’s syndrome was conducted at a routine visit; the other where screening was conducted as part of a separate visit. DESIGN: Prospective descriptive study. SETTING: Two hospitals in England. PARTICIPANTS: 1499 pregnant women offered screening for Down’s syndrome. Outcome measure: A multidimensional measure of informed choice derived from measures of (a) consistency between attitudes towards undergoing the test and uptake and (b) knowledge about the screening test. RESULTS: The proportion of women making an informed choice to accept the test was higher at the routine visit hospital than at the separate visit hospital (41% v 21%, 95% confidence interval (95% CI) of the difference 16% to 25%). The proportions of women making an informed choice to decline the test were similar at the two hospitals (23% at both, 95% CI of the difference -5% to 4%). These results reflect the finding that women with negative attitudes were equally likely to decline the test at each of the two hospitals, whereas women with positive attitudes were more likely to accept the test at the routine visit hospital than at the separate visit hospital. This finding held after adjusting for parity, socioeconomic status, age, and ethnicity. At both hospitals, women with good knowledge were slightly more likely to undergo the test than were women with poor knowledge. This difference disappeared after a similar adjustment. CONCLUSION: Screening conducted as part of a routine visit may be associated with higher levels of informed choice than screening conducted at a separate visit. This finding constitutes a hypothesis for experimental investigation.

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 Down’s syndrome

2019 ◽  
Vol 13 (1) ◽  
pp. 47-52
Author(s):  
Sarah MacLennan
Keyword(s):  
Clinical Features ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Legal Issues ◽  
Chromosome 21 ◽  
Intellectual Impairment ◽  
Nasal Bridge ◽  
Chromosomal Disorders ◽  
Flat Nasal Bridge ◽  
Increased Risk

Down’s syndrome is caused by trisomy of chromosome 21; it is one of the best known chromosomal disorders in humans. It has effects on most body systems, giving rise to a variety of characteristic clinical features including intellectual impairment, short stature, flat face, flat nasal bridge, prominent epicanthic folds, up slanting palpebral fissures and protruding tongue. Down’s syndrome is also associated with an increased risk of other medical conditions. All patients with Down’s syndrome have a degree of intellectual impairment ranging from mild to severe. This article considers the epidemiology, genetics, associated risks, antenatal screening and potential ethico-legal issues relating to the disorder before discussing clinical features, complications and monitoring requirements. Finally, Down’s syndrome management, prognosis, and future diagnostic tests are outlined.

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.

Birth Order and Maternal Age of Psychiatric In-patients

1966 ◽  
Vol 112 (492) ◽  
pp. 1131-1141 ◽  
Author(s):  
Ming-Tso Tsuang
Keyword(s):  
Environmental Factors ◽  
Birth Order ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosomal Anomaly ◽  
Average Population ◽  
Departure From Normality

Light may be thrown on the aetiology of human abnormalities by studying the position in birth order occupied by affected individuals and the age of the mother at the time of their birth. There should be no shift from average population values in either of these respects in the case of conditions directly and solely due to an abnormal gene, though there may be such a shift in conditions due to chromosomal abnormalities, such as mongolism (Down's syndrome). If, however, the question of a chromosomal anomaly does not arise, then departure from normality in birth order and maternal age suggest that environmental factors are involved in the causation of the condition.

STEROID MEDIATED CHANGES OF LEUCOCYTE ALKALINE PHOSPHATASE ACTIVITY IN DOWN'S SYNDROME

PEDIATRICS ◽  
1966 ◽  
Vol 38 (6) ◽  
pp. 996-1002
Author(s):  
Ernest E. McCoy ◽  
Manuchair Ebadi ◽  
Jack England
Keyword(s):  
Alkaline Phosphatase ◽  
Phosphatase Activity ◽  
X Chromosome ◽  
Alkaline Phosphatase Activity ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosome 21 ◽  
G6pdh Activity ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Leucocyte Alkaline Phosphatase

A study of the increase of leucocyte alkaline phosphatase (LAP) activity following oral anhydroxyprogesterone or intramuscular prednisolone was carried out in a group of Down's syndrome subjects and paired controls. The increase in LAP activity was greater in the Down's syndrome patients at p < .025 with anhydroxyprogestrone and at p < .005 with prednisolone. Simultaneous assays were carried out in another group of patients for LAP and the X chromosome-linked enzyme glucose 6-phosphate dehydrogenase (G6PDH). The increase in LAP activity was greater in Down's syndrome but the increase in G6PDH activity was similar in the two groups. Several possible reasons for the greater increase in LAP activity following the steroids were discussed. The authors favor the view that the increase is related to greater rates of synthesis of the enzyme in Down's syndrome and to trisomy for chromosome 21.

A boy with Down's syndrome having recombinant chromosome 21 but no SOD-1 excess

2008 ◽  
Vol 32 (6) ◽  
pp. 383-387 ◽  
Author(s):  
Kiyoshi Miyazaki ◽  
Tsutomu Yamanaka ◽  
Nobuaki Ogasawara
Keyword(s):  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosome 21 ◽  
Recombinant Chromosome
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