Down Syndrome: Causes, Symptoms, and Treatment

Asim, A., Kumar, A., Muthuswamy, S., Jain, S., & Agarwal, S. (2015). Down syndrome: an insight of the disease. 

Journal of biomedical science

Down syndrome (DS) is one of the commonest illnesses with enormous medicinal and social expense. DS is linked to a number of phenotypes that includes inherited heart imperfections, leukaemia, Alzheimer’s disease, Hirschsprung disease among others.  DS persons are affected by the phenotypes to a variable level therefore comprehending the cause of the disparity is a significant test. The genetic factor or miRNA comprised in Down syndrome linked to Alzheimer’s disorder, hereditary heart faults (AVSD), leukaemia consisting of AMKL and ALL, hypertension and Hirschsprung ailment are articulated within the article. Furthermore, it also reviews numerous prenatal diagnostic methods ranging from karyotyping to rapid molecular approaches. They include MLPA, FISH, QF-PCR, PSQ, NGS and non-invasive prenatal analysis comprehensively. 

Cardoso, A. C. D. N., de Campos, A. C., Dos Santos, M. M., Santos, D. C. C., & Rocha, N. A. C. F. (2015). Motor performance of children with Down syndrome and typical development at 2 to 4 and 26 months. 

Pediatric physical therapy

The article compares unrefined motor performance amongst kids with Down syndrome and typical development between two to four months and at the age of two. It similarly investigates the relationship between initial motor performance and later result. Kids with down syndrome portray complications in initial postural regulation and undertakings that require speed, postural regulation, and stability. The discovery that early performance correlates to later result strengthens the significance of early and task-specific intercession. The article articulates that people should fundamentally distinguish the reasons of the slower growth that will provide plans for resourceful rehabilitation. 

Chitty, L. S., Wright, D., Hill, M., Verhoef, T. I., Daley, R., Lewis, C., ... & Morris, S. (2016). Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down’s syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units.  bmj ,  354 . 

The article seeks to examine the profits and expense of applying non-invasive prenatal testing for Down’s syndrome into the NHS parenthood care path. The article indicates that the application of NIPT as a liable test in a public segment Down’s syndrome diagnosis schedule may advance care quality, women choices, and general performance based on the prevailing financial plan. As most women incorporate NIPT for data only, the Down’s syndrome rate of live birth is not likely to change considerably. It is important for future research to the uptake of NIPT and well-versed decision making beyond a research setting. 

Coppedè, F. (2016). Risk factors for Down syndrome. 

Archives of toxicology

The article indicates that Down syndrome stems from, in most of instances from a complete trisomy of chromosome 21. The reminder of the circumstances are attributed to either mosaicism for chromosome 21 or inheriting of an organizational reorganization. This leads to fractional trisomy of the most of its substance. Complete trisomy 21 and mosaicism are not hereditary, but stems from faults in cell dissections during egg development, spermatozoa or embryo. This manuscript critically evaluates the theories and the danger aspects that have been recommended to facilitate childbirth with DS. This includes folate uptake, nutritional, standard of living, ecological, professional, hereditary and epigenetic aspects. 

Danielsson, H., Zottarel, V., Palmqvist, L., & Lanfranchi, S. (2015). The effectiveness of working memory training with individuals with intellectual disabilities–a meta-analytic review. 

Frontiers in Psychology

The article articulates that working memory preparation has been gradually prevalent in the preceding years. Earlier research has indicated that people with rational infirmities possess a low working memory capability and thus are likely to profit from this form of intervention. The article similarly investigates the impact of WM and rational preparation for people with ID. The impacts stated in earlier research have varied and consequently a meta-analysis of articles in the key records was carried out. The article also indicates that despite the existence of a general impact of working memory training, a varied WM method seems to cause this impact. 

Grieco, J., Pulsifer, M., Seligsohn, K., Skotko, B., & Schwartz, A. (2015, June). Down syndrome: Cognitive and behavioral functioning across the lifespan. In  American Journal of Medical Genetics Part C: Seminars in Medical Genetics  (Vol. 169, No. 2, pp. 135-149). 

Persons with Down syndrome (DS) normally retain distinctive neurocognitive and neurobehavioral outlines that appear in particular progressive stages. The profiles are distinctively comparative to others with particular intellectual infirmity and replicate fundamental neuroanatomic verdicts, offering support for a characteristic phenotypic profile. This article provides an update on what is considered regarding the perceptive and behavioural phenotypes related to down syndrome across the lifespan. 

Hartley, D., Blumenthal, T., Carrillo, M., DiPaolo, G., Esralew, L., Gardiner, K., ... & Wisniewski, T. (2015). Down syndrome and Alzheimer's disease: Common pathways, common goals.  Alzheimer's & Dementia ,  11 (6), 700-709. 

In US, projections state the existence between 260,000 and 450,000 people with Down syndrome (DS), and virtually each may develop the Alzheimer's disease (AD) pathology at the age of thirty. As the present lifespan being 55 to 60 years, almost seventy percent may develop dementia. If their life anticipation continues increasing, the amount of people acquiring AD will concurrently rise. The article expressed various research urgencies. They include identification of the target and drug development, medical and pathological performance, cognitive evaluation and clinical tests and companies and associations with the eventual objective of providing efficient illness-modifying actions.  

Kruszka, P., Porras, A. R., Sobering, A. K., Ikolo, F. A., La Qua, S., Shotelersuk, V., ... & Muenke, M. (2017). Down syndrome in diverse populations. 

American Journal of Medical Genetics Part A

Down syndrome is the most common source of cognitive damage and presents clinically with generally detectible indicators and indications. This article displays the wide assortment of outcomes across diverse geographic populaces in Down syndrome. It establishes the precision and potential of digital facial analysis technology in the diagnosis of Down syndrome globally. In most cases, Down syndrome has been re-counted in individuals of every race; no racial predilection is acknowledged. A kid with Down syndrome may be born to any individual, irrespective of age, race, socio-economic rank, or dwelling area. 

Lanfranchi, S., Aventaggiato, F., Jerman, O., & Vianello, R. (2015). Numerical skills in children with Down syndrome. Can they be improved?. 

Research in developmental disabilities

The article seeks to explore the effect of a arithmetical skills training program on the fundamental mathematical abilities and logical thinking in kids with Down syndrome (DS). It is apparent that arithmetic and number abilities are parts of precise struggle for persons with Down syndrome. Research of arithmetic development in characteristically growing children suggests that the pre-verbal “number sense” framework and counting abilities offers two vital basics for arithmetic development. Nonetheless, the assumptions are founded on comparatively less samples of progenies. 

Whooten, R., Schmitt, J., & Schwartz, A. (2018). Endocrine manifestations of Down syndrome.  Current opinion in endocrinology, diabetes, and obesity ,  25 (1), 61. 

As human beings, persons with Down syndrome possess the privilege to fervently sustaining and culturally proper sexual expression. As patients, they possess the right to repetitive reproductive health care offered to the general populace. Cognitive and language infirmities can predispose this populace to unsolicited pregnancy, sexually transmitted ailment, and sexual abuse. Persons with DS are likewise at threat for other autoimmune situations, with current investigation revealing the part of the improved expression of the AIRE genetic factor on 21st chromosome.