Introduction
Down syndrome, while perhaps one of the most physically recognizable conditions of developmental disability, is still one of the least studied. Even though what we do know shows that with early intervention we can substantially improve the individual and their families’ wellbeing. Down syndrome occurs in one out of eight hundred live births, and is the most common genetic cause of mental retardation (National Institutes of Health, 2005).
Idea Definition
Downs syndrome can fall under either the IDEA definition for Intellectual Disability which says an individual displays: “significantly sub average general intellectual functioning, existing concurrently [at the same time] with deficits in adaptive behavior and manifested during …show more content…
P., Partyka, G., Jensen, K. M., Devine, O. J., Rasmussen, S. A., McCabe, L. L., & McCabe, E. B., 2013). Most studies only focus on the surveillance data from births, and are based on about one-third of the U. S. population, nor is there a regular follow up within the registry systems to account for deaths from down syndrome, so there is not a truly reliable estimate of the actual prevalence in the U.S. of down syndrome (Presson, A. P., Partyka, G., et al., (2013). The generally accepted estimated population of those individuals living in the United States with down syndrome is around 400,000; though the study undertaken by Presson et al showed as of January 1, 2008 there were approximately 250, 700 individuals in the United States living with down syndrome using a Monte Carlo sample approach, this study also estimated the prevalence rate in the U.S. at 14. 47 per ten thousand live births. (Presson, A. P., Partyka, G., et al., (2013). On a high point the median life expectancy has increased from twenty-five to fifty since 1983, due likely to de-institutionalizing measures and advances in medical knowledge (Presson, A. P., Partyka, G., et al., …show more content…
Though it is known that the older a woman is upon giving birth the higher the risk for having a baby with down syndrome, those over the age of thirty five are noted as being more likely, though there are pre-natal screenings available to detect the possibility of the disability CDC, 2014). Most often the cell error occurs during the formation of the egg or sperm, though it can happen less often after fertilization as the embryo is growing (NIH, 2014). In about four percent of cases this is attributed to the father providing an extra chromosome twenty one, where most often in more than ninety percent of cases it is the mother who provides the extra chromosome twenty-one (NIH, 2014). There are three types of chromosome changes which lead to down syndrome: Complete trisomy twenty one, this is where all the persons cells have a complete extra copy; Mosaic trisomy twenty-one, this is where only some cells have the different chromosome; and Translocation trisomy, where only a part of the extra copy of the cell is found in the persons cells (NIH,
Down syndrome, while perhaps one of the most physically recognizable conditions of developmental disability, is still one of the least studied. Even though what we do know shows that with early intervention we can substantially improve the individual and their families’ wellbeing. Down syndrome occurs in one out of eight hundred live births, and is the most common genetic cause of mental retardation (National Institutes of Health, 2005).
Idea Definition
Downs syndrome can fall under either the IDEA definition for Intellectual Disability which says an individual displays: “significantly sub average general intellectual functioning, existing concurrently [at the same time] with deficits in adaptive behavior and manifested during …show more content…
P., Partyka, G., Jensen, K. M., Devine, O. J., Rasmussen, S. A., McCabe, L. L., & McCabe, E. B., 2013). Most studies only focus on the surveillance data from births, and are based on about one-third of the U. S. population, nor is there a regular follow up within the registry systems to account for deaths from down syndrome, so there is not a truly reliable estimate of the actual prevalence in the U.S. of down syndrome (Presson, A. P., Partyka, G., et al., (2013). The generally accepted estimated population of those individuals living in the United States with down syndrome is around 400,000; though the study undertaken by Presson et al showed as of January 1, 2008 there were approximately 250, 700 individuals in the United States living with down syndrome using a Monte Carlo sample approach, this study also estimated the prevalence rate in the U.S. at 14. 47 per ten thousand live births. (Presson, A. P., Partyka, G., et al., (2013). On a high point the median life expectancy has increased from twenty-five to fifty since 1983, due likely to de-institutionalizing measures and advances in medical knowledge (Presson, A. P., Partyka, G., et al., …show more content…
Though it is known that the older a woman is upon giving birth the higher the risk for having a baby with down syndrome, those over the age of thirty five are noted as being more likely, though there are pre-natal screenings available to detect the possibility of the disability CDC, 2014). Most often the cell error occurs during the formation of the egg or sperm, though it can happen less often after fertilization as the embryo is growing (NIH, 2014). In about four percent of cases this is attributed to the father providing an extra chromosome twenty one, where most often in more than ninety percent of cases it is the mother who provides the extra chromosome twenty-one (NIH, 2014). There are three types of chromosome changes which lead to down syndrome: Complete trisomy twenty one, this is where all the persons cells have a complete extra copy; Mosaic trisomy twenty-one, this is where only some cells have the different chromosome; and Translocation trisomy, where only a part of the extra copy of the cell is found in the persons cells (NIH,