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

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.

Download Full-text

WHOSE CHROMOSOMES TO COUNT IN MONGOLISM?

PEDIATRICS ◽

10.1542/peds.36.4.620 ◽

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.

Download Full-text

Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register

Yearbook of Pathology and Laboratory Medicine ◽

10.1016/s1077-9108(10)79509-8 ◽

2011 ◽

Vol 2011 ◽

pp. 333-334

Author(s):

M.G. Bissell

Keyword(s):

Down Syndrome ◽

Down's Syndrome ◽

Down’S Syndrome ◽

England And Wales ◽

Live Births

Download Full-text

A bit too much Olig2 in Down’s syndrome

Science Translational Medicine ◽

10.1126/scitranslmed.aay1425 ◽

2019 ◽

Vol 11 (495) ◽

pp. eaay1425

Author(s):

Ming Yang

Keyword(s):

Cerebral Cortex ◽

Cognitive Impairment ◽

Down's Syndrome ◽

Down’S Syndrome

Overproduction of the Olig2 gene responsible for cerebral cortex neurotransmission may explain cognitive impairment in Down’s syndrome.

Download Full-text

Reliability of Statistics on Down's Syndrome Notifications

Journal of Medical Screening ◽

10.1177/096914139700400205 ◽

1997 ◽

Vol 4 (2) ◽

pp. 95-97 ◽

Cited By ~ 6

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.

Download Full-text

Late-Life Depressive Disorder in the Community

The British Journal of Psychiatry ◽

10.1192/bjp.166.3.316 ◽

1995 ◽

Vol 166 (3) ◽

pp. 316-319 ◽

Cited By ~ 18

Author(s):

Rob Van Ojen ◽

Chris Hooijer ◽

Dick Bezemer ◽

Cees Jonker ◽

Jaap Lindeboom ◽

...

Keyword(s):

Cognitive Impairment ◽

Family History ◽

Psychiatric Illness ◽

Mental Health Problems ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Late Life ◽

Late Life Depression ◽

Stratified Sample ◽

History Of

BackgroundIn previous studies, dementia was linked to a family history of dementia and Down's syndrome. This study tested the hypothesis that late-life depression accompanied by cognitive impairment in elderly individuals with no history of psychiatric illness is also associated with these family histories.MethodWe investigated an age-stratified sample of 4051 elderly people in the community aged 65–84 (AMSTEL). The relationship between family history (CAMDEX questionnaire) and depression (GMS-AGECAT diagnosis) was studied.ResultsA family history of mental health problems was associated with all subtypes of depression. Family history of dementia was associated with depression in subjects with a psychiatric history, but a family history of Down's syndrome was only associated with the combination of depression and cognitive impairment in subjects with no history of psychiatric illness.ConclusionsThe heritability pattern confirms the concept of a dementia-related subtype of late-life depression.

Download Full-text

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

International Journal for Population Data Science ◽

10.23889/ijpds.v4i3.1273 ◽

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.

Download Full-text

Graves Disease And Down Sindrome : Clinical Case

ARS Medica Tomitana ◽

10.1515/arsm-2015-0040 ◽

2015 ◽

Vol 21 (3) ◽

pp. 163-168 ◽

Cited By ~ 1

Author(s):

Olesea Scrinic ◽

Seila Ibadula ◽

E. Circo

Keyword(s):

Down Syndrome ◽

Side Effects ◽

Clinical Case ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Graves Disease ◽

Ocular Involvement ◽

Endocrine Disorders ◽

Clinical Evolution ◽

Antithyroid Therapy

ABSTRACT Introduction: Pacients with Down’s syndrome present an increase revalence of autoimune endocrine disorders. We communicate the case of 14 years and 6 months old pacient known with Down syndrome admitted in Endocrinology department with suspicion of hyperthyroidism, the diagnosis being confirmed by hormonal dosage. The particularity of the case consists in: symptomatology onset during puberty, clinical evolution with mild symptoms, without ocular involvement, morphological and functional remission obtained relatively soon after the initiation of antithyroid therapy, lack of posttherapy side effects, favorabile evolution under the “block and replace” therapy

Download Full-text

Fifteen-minute consultation: The review of a child with trisomy 21 (Down’s syndrome)

Archives of Disease in Childhood - Education and Practice ◽

10.1136/archdischild-2020-319814 ◽

2021 ◽

pp. edpract-2020-319814 ◽

Cited By ~ 1

Author(s):

Rebecca Amy Dalrymple ◽

Laura Helen Somerville ◽

Sherin Hamza ◽

Nashwa Matta

Keyword(s):

Intellectual Disability ◽

Chromosomal Abnormality ◽

Trisomy 21 ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Many Body ◽

Life Threatening ◽

Many Body Systems

Down’s syndrome (DS) is the most common chromosomal abnormality seen in live born children and it is the most common genetic cause of intellectual disability. It is associated with abnormalities in many body systems, some of which can cause life threatening complications. This article aims to cover the important aspects to cover when seeing children with DS for their routine follow-up in the neurodevelopmental or general paediatric clinic.

Download Full-text