Author(s): Veerabhadrappa G Mendagudli

Email(s): veerabhadrappa.bijapur@gmail.com

DOI: 10.52711/2454-2652.2024.00022   

Address: Veerabhadrappa G Mendagudli
Principal, BLDEA’S College of Nursing, Jamkhandi. Karnataka, India.
*Corresponding Author

Published In:   Volume - 12,      Issue - 2,     Year - 2024


ABSTRACT:
Trisomy 21—another name for Down syndrome—is a genetic disease brought on by the presence of an extra copy of chromosome 21. Physical, mental, and developmental traits are produced as a result of this increased genetic material. Common facial characteristics of people with Down syndrome include almond-shaped eyes and a flat nasal bridge. In addition to having a higher risk of developing certain medical diseases, such as heart defects, hearing loss, and thyroid disorders, they may also face delays in their motor and cognitive development. Down syndrome sufferers often have mild to moderate intellectual handicap, while their cognitive abilities can vary greatly. They can greatly improve their quality of life and reach their full potential with early intervention, specialised education, and supportive environments. The quality of life for those with Down syndrome is improving, and they are making a variety of contributions to their communities thanks to changes in medical treatment and societal views. Down syndrome's impacts on brain function and development are still being better understood through research into the basic factors that underlie it. The goal of these efforts is to develop tailored therapeutics to enhance cognitive and developmental outcomes by better understanding the genetic and molecular components that contribute to the condition. Overall, research into, advocacy for, and support for people with Down syndrome continues. These efforts are aimed at advancing inclusivity, equal opportunity, and a greater understanding of neuro diversity1


Cite this article:
Veerabhadrappa G Mendagudli. A Comprehensive Review of Down Syndrome: Molecular Basis, Clinical Characteristics and Therapeutic Prospects. International Journal of Advances in Nursing Management. 2024; 12(2):99-0. doi: 10.52711/2454-2652.2024.00022

Cite(Electronic):
Veerabhadrappa G Mendagudli. A Comprehensive Review of Down Syndrome: Molecular Basis, Clinical Characteristics and Therapeutic Prospects. International Journal of Advances in Nursing Management. 2024; 12(2):99-0. doi: 10.52711/2454-2652.2024.00022   Available on: https://ijanm.com/AbstractView.aspx?PID=2024-12-2-10


REFERENCES:
1.    Roizen NJ, Patterson D. Down's Syndrome. Lancet. 2003; 361(9365):1281-1289.
2.    Presson AP, Partyka G, Jensen KM, et al. Current estimates of Down syndrome population prevalence in the United States. J Pediatr. 2013; 163(4): 1163-1168.
3.    Chistiakov DA, Chekhonin VP. Down syndrome: From the understanding of the cause to the development of therapies. Gene. 2020; 742: 144577.
4.    Antonarakis SE, Skotko BG, Rafii MS, et al. Down syndrome. Nat Rev Dis Primers. 2020; 6(1): 9.
5.    Patterson D. Molecular genetic analysis of Down syndrome. Hum Genet. 2009; 126(1): 195-214.
6.    Esbensen AJ. Health conditions associated with aging and end of life of adults with Down syndrome. Int Rev Res Dev Disabil. 2010; 39: 107-126.
7.    Capone G, Chicoine B, Bulova P, Stephens M. Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Am J Med Genet A. 2018; 176(1): 116-133.
8.    Lott IT, Dierssen M. Cognitive deficits and associated neurological complications in individuals with Down's syndrome. Lancet Neurol. 2010; 9(6): 623-633.

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International Journal of Advances in Nursing Management (IJANM) is an international, peer-reviewed journal devoted to nursing sciences. IJANM's aim is to promote..... Read more >>>

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DOI: 10.5958/2454-2652 


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