سندرم داون: بررسی یکپارچه Down syndrome: An integrative review

1. Introduction Down syndrome is one of the most common genetic disorders that impacts foetal development, affecting 1 in every 1150 live births in Australia (Tracy, 2011). It is also known as Down’s syndrome or trisomy 21 and was discovered by John Langdon Down in 1866. It is a chromosomal disorder where the individual has an additional copy of chromosome 21, either full or partial (Your Genome, 2015). Genetics plays a major role in foetal development and is where chromosomal abnormalities occur. Chromosomal abnormalities with Down syndrome occur during the meiotic cellular division phase (Perkins, 2017). This can happen due to increased maternal age, although there are mothers younger than 35 that have conceived a baby with Down syndrome (Perkins, 2017). It is important to have prenatal screening to monitor foetal development and to make an accurate diagnosis during this period. Differences in culture and ethnicity can impact prenatal screening discussion and decision making, raising many ethical issues. Over recent decades, the health and life expectancy of Australians with Down syndrome has improved resulting in more people living into adulthood (Tracy, 2011). Furthermore, there are a number of medical conditions associated with Down syndrome, the most common being cardiac defects, leukaemia, gastrointestinal issues, vision and hearing issues, dental issues, thyroid disease, obstructive sleep apnoea, epilepsy, and Alzheimer disease (Perkins, 2017). Surgical interventions may be required to correct any medical issues to improve baby’s outcomes. Down syndrome is also one of the leading causes of intellectual disability (Asim et al., 2015). Neonatal nurses are advocates for babies and their families and need to be able to provide the emotional support as well as educate parents and families about Down syndrome (Kenner and Lott, 2014). It is also paramount for neonatal nurses to understand how Down syndrome impacts families as well as how to care for babies with this genetic disorder.