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.

Down's syndrome and dementia

2004 ◽  
Vol 10 (1) ◽  
pp. 50-58 ◽  
Author(s):  
Lisa R. Stanton ◽  
Rikus H. Coetzee
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Disorder ◽  
Down's Syndrome ◽  
Acetylcholinesterase Inhibitors ◽  
Down’S Syndrome ◽  
Chromosome 21 ◽  
Unique Challenge ◽  
Increased Risk ◽  
New Treatments

Down's syndrome is the most common genetic disorder seen in clinical practice: about 94% occurs because of non-disjunction of chromosome 21 and 3–5% because of translocation. Individuals increasingly survive to middle and old age, probably because of advances in medical treatment and improved living conditions. People with Down's syndrome have an increased risk of developing Alzheimer's disease in middle age. Within ICD–10 and DSM–IV classifications there is no consensus on the diagnosis of dementia in people with learning disability. New treatments have been licensed for use in mild to moderate Alzheimer's disease (e.g. acetylcholinesterase inhibitors and memantine). The comorbid picture of Down's syndrome and Alzheimer's disease presents a unique challenge to the clinician in both diagnosis and management.

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

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.

A five year follow-up study of dementia in persons with Down's syndrome: early symptoms and patterns of deterioration

2000 ◽  
Vol 17 (1) ◽  
pp. 5-11 ◽  
Author(s):  
Mary P Cosgrave ◽  
Janette Tyrrell ◽  
Mary McCarron ◽  
Michael Gill ◽  
Brian A Lawlor
Keyword(s):  
Clinical Features ◽  
Rating Scales ◽  
Age At Onset ◽  
Down's Syndrome ◽  
Memory Loss ◽  
Down’S Syndrome ◽  
Personal Hygiene ◽  
Follow Up Study ◽  
Diagnosis Of Dementia

AbstractObjectives: To investigate the development of dementia over a five year follow up period in a population of females with Down's syndrome; to examine age at onset and duration of dementia in the population; to document the clinical features of dementia and to highlight scores on functional and cognitive rating scales at diagnosis of dementia and at the onset of complete dependency.Method: A five year follow-up study of 80 female subjects on prevalence of dementia, early clinical features of dementia and patterns of scoring on rating scales at diagnosis and end-stage dementia was completed. Results: Over the five year study period the number of subjects diagnosed with dementia rose from seven (8.75%) to 35 (43.75%). Age related prevalence figures showed that dementia was more common with increasing age. The earliest recognisable symptoms of dementia were memory loss, spatial disorientation and loss of independence especially in the area of personal hygiene. These findings were confirmed by the rating scales used in the study.Conclusions: The earliest recognisable clinical features of dementia include memory loss and increased dependency. The results of this study should facilitate earlier diagnosis of dementia in DS.

scholarly journals Increased Risk of RSV Infection in Children with Down's Syndrome: Clinical Implementation of Prophylaxis in the European Union

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Dianne van Beek ◽  
Bosco Paes ◽  
Louis Bont
Keyword(s):  
European Union ◽  
Down's Syndrome ◽  
Healthcare Providers ◽  
Down’S Syndrome ◽  
The European Union ◽  
Clinical Implementation ◽  
Increased Risk ◽  
Rsv Infection ◽  
Current Guidelines ◽  
Country Specific

Prospective cohort studies show that Down’s syndrome (DS) is an independent risk factor for hospitalization for RSV bronchiolitis. It is unknown whether this observation has been translated into specific management for DS children. The primary goal was to assess the knowledge of healthcare providers in the European Union about RSV infection in DS children and to determine whether it influenced the implementation of prophylaxis. DS caregivers were surveyed using a standardized questionnaire, and country-specific guidelines were obtained. Fifty-three caregivers participated. Thirty-nine (86.7%) had knowledge of the increased risk of severe RSV infection in DS children, and 30 (71.4%) graded that it was important to have a statement on the use of RSV prophylaxis in existing guidelines. Twenty-eight participants had a local DS guideline; hard copies of twelve unique guidelines were obtained. Only one (8.3%) contained a statement on RSV prophylaxis for DS, and five considered such a statement for the next version.Conclusion. Most pediatricians had knowledge that DS children have an increased risk of severe RSV infection. Despite the lack of a specific RSV prophylaxis trial in DS, they felt that a statement on RSV prophylaxis in DS guidelines was important, but this was rarely present in current guidelines.

Comparison of Brain Morphology in Alzheimer’s Dementia in the General Population and Demented Subjects with Down’s Syndrome

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1 ◽  
Author(s):  
D. Mullins ◽  
E. Daly ◽  
A. Simmons ◽  
P. Johnston ◽  
K. Murphy ◽  
...  
Keyword(s):  
General Population ◽  
Entorhinal Cortex ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Alzheimer’S Dementia ◽  
Brain Morphology ◽  
Alzheimer's Dementia ◽  
Temporal Lobes ◽  
Lateral Ventricles ◽  
Increased Risk

Aim:To compare Magnetic Resonance Imaging (MRI) findings in Alzheimer's dementia (AD) in the general population with Down's syndrome dementia.Background review: AD is characterised by cognitive dysfunction interfering with activities of daily living. Mild cognitive impairment (MCI) is an intermediate state between normal aging and dementia. People with Down's syndrome have an increased risk of developing AD. AD pathology initially appears in the entorhinal cortex, followed by the hippocampus and later in the temporal lobes. These areas are critical for memory functioning.Method:Volumetric analysis was performed on MRI brain scans using Measure software. Manual tracing was undertaken for the hippocampus, temporal lobes and lateral ventricles as well as the total brain volume of the cerebral hemispheres and cerebellum. Brain volumes were normalised as a percentage of traced intracranial volumes. Freesurfer software was used to obtain entorhinal cortical thickness measures. Statistical analysis was undertaken using SPSS15.Results:Subjects with AD (n=46), MCI (n=28) and controls (n=39) were compared with Down's syndrome demented subjects (DS+, n=20), non-demented subjects with Down's syndrome (DS-, n=45) and age-matched controls (n=43). Hippocampi, entorhinal cortex and temporal lobes were significantly reduced in AD and DS+ compared to controls. Lateral ventricles were significantly increased in AD and DS+ compared to controls. MCI and DS- produced findings between those of dementia and controls.Conclusions:Critical memory regions atrophy in dementia corresponding to decreased cognitive functioning. DS+ morphology is comparable to AD in the general population but the atrophy is less pronounced.

Mania and Down's Syndrome

1993 ◽  
Vol 162 (6) ◽  
pp. 739-743 ◽  
Author(s):  
Sally-Ann Cooper ◽  
Richard A. Collacott
Keyword(s):  
Learning Disabilities ◽  
Family History ◽  
Affective Disorder ◽  
Clinical Features ◽  
Case Reports ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Atypical Presentation ◽  
Rapid Cycling ◽  
History Of

Until recently, it was considered that Down's syndrome precluded a diagnosis of mania, or gave rise to an atypical presentation. There have been seven case reports of mania in people with Down's syndrome and all these cases are reviewed. The clinical features of mania are noted to be similar to those previously described in individuals with learning disabilities due to other causes. However, all reported cases are male and none has a family history of affective disorder. In two of the seven men reported, the illness followed a rapid cycling pattern. Hypothyroidism and monoamine biochemistry in people with Down's syndrome are discussed in the context of these atypical features.

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.

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