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Cytogenetics in Mental Retardation: An Overview | Chapter 09 | New Horizons in Medicine and Medical Research Vol. 6

  It is critical to determine the aetiology of mental retardation in order to limit the risk of recurrence and, in cases where MR is transmissible, to provide prenatal diagnostics and correct genetic counselling. The study emphasises the value of cytogenetic investigations in finding anomalies such as rings and mosaics that may be missed by CMA assays. Mental retardation is described as a lack of mental capacity development and associated behavioural issues. It is the most prevalent neuropsychiatric illness, affecting 2.5-3.0% of the population in all civilised nations. Mental retardation is commonly caused by chromosomal disorders. In the first report from North India, cytogenetic examinations were performed on 143 mentally disturbed persons who were sent to the Guru Nanak Dev University's Centre for Genetic Disorders in Amritsar, India, between 1996 and 2002. These cases were typically referred to as Down syndrome, delayed milestones, mental retardation, and so on. The patients...

Determining the Role of Prenatal Diagnosis in Parents with Sex Chromosomal Aneuploidy: Review Article | Chapter 07 | New Horizons in Medicine and Medical Research Vol. 6

 The karyotypes 45,X (Turner syndrome); 47,XXY (Klinefelter syndrome); 47,XXX; and 47,XYYY are all examples of sex chromosome aneuploidy, which is defined as a numeric aberration of an X or Y chromosome. Individuals with the numbers 47,XXX and 47,XXY are typically viable, however they may have a cytogenetically abnormal child. Turner and Klinefelter syndromes are frequently linked to infertility, however some women have been able to give birth to healthy children, and other kids have been born with chromosomal abnormalities. 0.1 percent of live-born female babies have Triple X syndrome. Only a few cases of congenital abnormalities have the 47,XXX karyotype, hence the majority of these newborn kids have a normal phenotype. Despite the fact that these female patients appear to be mainly viable, there appears to be an increased risk of having a cytogenetically abnormal kid; the magnitude of this risk cannot yet be determined; prenatal diagnosis and genetic study are therefore indica...

Oral Hygiene in People with Disability | Chapter 12 | Current Trends in Disease and Health Vol. 1

Aims: To determine the effect of an educative intervention on the oral hygiene of people with Down Syndrome in two special education schools in Celaya, Gto. Study Design: Quantitative, correlational, quasi-experimental study. Place and Duration of Study: The experimental group of the school of Special Education Mariana and the control group of the Center of Attention Multiple Henri Wallon in Celaya, Gto, between May 2016 and April 2017. Methodology: We included 30 students (14 men, 16 women; age range 6-21 years) with Down Syndrome. An instrument based on Orem's theory was used to evaluate self-care abilities in oral hygiene and a National Autonomous University of Mexico format of personal control of the dentobacterial plaque. The intervention "Oral hygiene in people with Down Syndrome" was implemented. All was analyzed with Student t for paired means and Student t for independent groups, and P-value. Results: Self-care skills showe...