Down's syndrome

@article{Roizen2003DownsS,
  title={Down's syndrome},
  author={Nancy J. Roizen and David Patterson},
  journal={The Lancet},
  year={2003},
  volume={361},
  pages={1281-1289}
}
“Down syndrome: an insight of the disease”
TLDR
The genes or miRNA involved in Down syndrome associated Alzheimer’s disease, congenital heart defects (AVSD), leukemia including AMKL and ALL, hypertension and Hirschprung disease are discussed in this article.
Molecular genetic analysis of Down syndrome
TLDR
Progress in understanding the genetic mechanisms by which trisomy of HSA21 leads to DS is the subject of this review.
Pitfalls And Hopes in Down Syndrome Therapeutic Approaches: In the Search for Evidence-Based Treatments
TLDR
The review addresses the classical pharmacological and environmental treatments of DS mental retardation and critically reviews the new possibilities that are emerging from the exciting advances in gene or cell therapy.
Pharmacotherapy of Down's syndrome: When and Which?
TLDR
Different aspects of DS are reviewed and the results of DS treatment in an animal model, namely the Ts65Dn mouse are analyzed to encourage more efforts to improve the quality of life to people affected by DS.
Genetically‐Linked Syndromes in Intellectual Disabilities
Comprehensive medical research is optimally based on a clear understanding of the pathogenesis of disease. It follows that a research agenda designed to promote healthy aging in persons with genetic
What people with Down Syndrome can teach us about cardiopulmonary disease
TLDR
Increased comparative studies of cardiopulmonary disease in persons with and without Down syndrome are strongly advocated, as it is believed these will lead to new strategies to prevent and treat diseases affecting millions of people worldwide.
Down syndrome and the complexity of genome dosage imbalance
TLDR
The elucidation of the molecular mechanisms that cause or modify the risk for different Down syndrome phenotypes could lead to the introduction of previously unimaginable therapeutic options.
Alterations of brain circuits in Down syndrome murine models
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References

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Significance of oral health in persons with Down syndrome: a literature review
TLDR
An overview of the current literature concerning the orofacial problems confronting patients with DS is given, to explain the different treatment modalities available.
Genetic and host factors for dementia in Down's syndrome.
TLDR
Factors which influence Abeta levels, rather than overexpression of APP, may account for the differences in age at onset of dementia in Down's syndrome.
Down's syndrome: The effects of prenatal diagnosis and demographic factors in a region of the eastern part of Germany
The epidemiological analysis of trisomy 21 presented for the new federal German state of Saxony-Anhalt describes trends and changes in the frequency of Down's syndrome and prevalences of the
Autistic disorders in Down syndrome: background factors and clinical correlates.
TLDR
A study of a clinic-based sample of 25 individuals with Down syndrome (DS) and autism spectrum disorders, demonstrates that autism is by no means rare in DS.
Nutritional supplementation in Down syndrome: theoretical considerations and current status.
Down syndrome (DS) is the most common inherited cause of learning disability, and affected individuals are more prone to infections, leukaemia, congenital heart disease and other anomalies, thyroid
A mouse model for Down syndrome exhibits learning and behaviour deficits
TLDR
The reproducibility of this phenotype among Ts65Dn mice indicates that dosage imbalance for a gene or genes in this region contributes to this impairment, and the corresponding dosage balance for the human homologues of these genes may contribute to cognitive deficits in DS.
Down syndrome: advances in molecular biology and the neurosciences.
  • G. Capone
  • Psychology, Medicine
    Journal of developmental and behavioral pediatrics : JDBP
  • 2001
The entire DNA sequence for human chromosome 21 is now complete, and it is predicted to contain only about 225 genes, which is approximately three-fold fewer than the number initially predicted just
THE RECOGNITION OF AUTISM IN CHILDREN WITH DOWN SYNDROME‐IMPLICATIONS FOR INTERVENTION AND SOME SPECULATIONS ABOUT PATHOLOGY
TLDR
The implications, for both families and children, of the failure to diagnose autism when it co‐occurs with other conditions such as Down syndrome are discussed and some speculations about possible pathological associations are presented.
Prevalence of coeliac disease in Down's syndrome
TLDR
Measurement of serum concentrations of AEA should be added to the list of screening tests for coeliac disease in patients with Down's syndrome, otherwise definite association between both diseases may pass unnoticed and diagnosis of coelcream disease be considerably delayed.
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