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Full-Text Articles in Genetics and Genomics
Revisiting The Essential Informational Needs Of Parents Receiving A Diagnosis Of Down Syndrome, Margaret Jean Wilkes
Revisiting The Essential Informational Needs Of Parents Receiving A Diagnosis Of Down Syndrome, Margaret Jean Wilkes
Theses and Dissertations
Down syndrome is a condition characterized by varying degrees of intellectual disability (ID), distinctive facial appearance, and congenital anomalies that results from the presence of a third 21st chromosome. Down syndrome is the most common chromosomal condition, affecting approximately 12.6 per 10,000 live births in the United States, making it imperative that we determine which information is most essential to impart to parents when first presenting the diagnosis. The aim of the present study is to reassess the informational needs of parents during the presentation of a Down syndrome diagnosis. In 2009, data were collected to define the essential information …
Comparisons Of Isogenic Trisomic And Disomic Cells From People With Mosaicism For Down Syndrome Unmask Cellular Differences Related To Trisomy 21, Kelly A. Rafferty
Comparisons Of Isogenic Trisomic And Disomic Cells From People With Mosaicism For Down Syndrome Unmask Cellular Differences Related To Trisomy 21, Kelly A. Rafferty
Theses and Dissertations
It is known that age-related changes impacting multiple organ systems occur earlier in people with Down syndrome (Ds), but the biological basis underlying this trisomy 21-associated propensity for premature aging is poorly understood. Given that the trisomic/normal cells from people with mosaic Ds (mDs) are identical with regards to environmental exposures and genes (except for chromosome 21 copy number), comparisons of these isogenic trisomic/disomic cells allow one to “unmask” the cellular consequences of trisomy 21 by removing extraneous factors. The primary aim of this study was to determine if trisomy 21 results in an increase in the acquisition of age-related …
Exploring Birthparent’S Experiences Of Creating An Adoption Plan For Their Children With Special Needs, Sanjukta Tawde
Exploring Birthparent’S Experiences Of Creating An Adoption Plan For Their Children With Special Needs, Sanjukta Tawde
Theses and Dissertations
Very little information is available regarding the experience and needs of families who create an adoption plan for their child with disability. The purpose of this study was to learn more about the experiences of birthparents who created an adoption plan after the diagnosis of Down syndrome so as to understand their needs during the process. Birthparents were invited to participate in the study through National Down Syndrome Adoption Network (NDSAN) by membership emails. Information about the study was made available on the organization’s website and social media pages. Potential participants also learned about the study from one of the …
Parents' Dreams For Their Young Adults With Down Syndrome: What Resources Are Needed To Achieve Them?, Julianna Elise Hudnall
Parents' Dreams For Their Young Adults With Down Syndrome: What Resources Are Needed To Achieve Them?, Julianna Elise Hudnall
Theses and Dissertations
This study sought to identify the goals parents have for their young adult sons and daughters with Down syndrome, the factors that help to achieve those goals, and parents' perceived barriers to successful attainment of those objectives. While many supports are readily available to youths with Down syndrome in primary and secondary school, many of these supports disappear as these individuals transition into adulthood. When combined with the inherent challenges of emerging adulthood, significant gaps in resources become evident for this population. In order to identify areas in need of improvement, this study surveyed parents of post- and peri-transitional young …
Use Of Social Media As A Support Network In Families With A Child Diagnosed With Trisomy 13, 18, Or 21, Ginger Elizabeth Edwardsen
Use Of Social Media As A Support Network In Families With A Child Diagnosed With Trisomy 13, 18, Or 21, Ginger Elizabeth Edwardsen
Theses and Dissertations
Social media is a web based technology that allows individuals to communicate with other individuals, organizations, and communities about common interests and experiences. Recently, social media use has expanded into the healthcare field and many individuals are using social media to connect with others in similar situations and find support. Family members of children or pregnancies with trisomy 13, 18, or 21 were invited to participate in an online survey that explored the use of social media as a support network including their purposes for using social media as a support network, how often the use social media, and what …