Down Syndrome Diagnosis

What a Diagnosis of Down Syndrome Means Today

Down syndrome is a condition affecting many Americans and individuals across the world. It presents challenges socially, academically, and behaviorally. However, a diagnosis today is not nearly as detrimental to the person’s quality of life as it was decades ago. Strides have been made in Down syndrome awareness, education and overall acceptance. Screening is now available so that parents know in advance if they are going to have a child born with the condition, and resources are available to help educate and prepare them for creating and maintaining a good quality of life for their child. Down syndrome individuals have been known to graduate high school, enter the work force, and even leave
home and venture out into the world independently in recent times. Many of these things would not have been possible decades ago. Society accepts the handicapped individual now and aids in acclimating them into our society rather than institutionalizing them as was done in the past.
Down syndrome is a condition that a person is born with.
There is no definite cause for why it happens to certain individuals, only an explanation of what is different inside the body that creates the condition. Encyclopedia Britannica describes how it originates inside the cells of the individual’s body and within the nucleus. This is the place where genetic material is stored inside of the genes. Our genes are what make us unique as individuals, carrying the codes responsible for all of our inherited traits. These genes are grouped along rod-like structures called chromosomes. Typically, there are 23 pairs of chromosomes inside of each cell’s nucleus. We inherit half of these chromosomes from one parent, and the other half from the other. Sometimes, however, an extra chromosome can be present, creating a chromosomal condition called Down syndrome that occurs when an individual has 47 chromosomes instead of the usual 46. The extra chromosome present is either a full or partial copy of the chromosome 21 dubbing the condition with the alternate name of Trisomy 21. Unfortunately for the individual, the extra chromosome changes the body and brain’s normal development and causes mental and physical problems
(www.britannica.com).
There are many physical problems associated with Down syndrome. Some of the most common include birth defects of the heart, stomach problems, hearing problems, eye problems, thyroid problems, skeletal problems, dementia, cognitive impairments, small intestine blockages, and Celiac disease (www.cdc.gov). There is often a higher occurrence of infection for the individual as well. Their appearance separates them from others by their most distinct trait: eyes with an upward slant that stand out against their flat faces. They often have smaller features to their physique such as smaller hands, feet, and ears, a short neck, and a small pinky finger that curves towards their single-creased palm (www.cdc.gov). If you look closely into their eyes, they have tiny white spots on their iris. Their body often has poor muscle tone and loose ligaments, also known as hypotonia (www.cdc.gov). These symptoms and effects of the condition have not changed over time. Nothing as of yet can be done to change the effects of the condition in utero, but there are resources and options to help with management of the effects or treatment after birth. Surgery and medicine are treatment options for the physical problems, and the differences to their physical appearance are recognized as an effect of the condition, typically not causing them pain or the need for correction.
There are many tests that are now available to women throughout their pregnancy to determine if their child has Down syndrome. In the United States, ACOG guidelines recommend that screening be offered to all women, regardless of their age (www.acog.org). There are noninvasive screening tests such as blood tests, the nuchal translucency test, and sonograms (ultrasounds) which look for particular abnormalities in the fetus that might indicate Down syndrome (www.acog.org). If the tests indicate a risk for the fetus having Down syndrome, then the woman is given a diagnostic test such as amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical cord blood sampling (PUBS) to determine for sure. Often time women over the age of 35 elect to have these procedures done, given the fact that research has shown not only an increase in babies born with Down syndrome overall, but increasingly more so in mothers 35 years of age and older (Besser, Shin, Kucik, & Correa, 2007).
If a woman is given a diagnosis of Down syndrome for her unborn child, she is then faced with a decision to make between terminating the pregnancy and carrying their child to term. Research has shown multiple factors to help influence a woman 's decision making process following a diagnosis of Down syndrome, including demographic factors such as religion, maternal age, gestational age, number of existing children, and history of induced abortion (Choi, Van Riper, & Thoyre, March - April , 2012). Research has shown that psychosocial factors help to influence their decision as well. Such factors include perceived parenting burden/reward, quality of life for a child with Down syndrome, their personal attitude towards individuals with disabilities, and the support received from others (Choi, et al.). A 2002 literature review of elective abortion rates found that 91–93% of pregnancies in the United Kingdom and Europe with a diagnosis of Down syndrome were terminated (Mansfield, Hopfer, & Marteau, 1999).
There are some cases where screening and testing were not done during the pregnancy, and an infant is born without prior knowledge of them having this condition thus allowing for a postnatal diagnosis. Pediatricians usually make this diagnosis using a system of diagnostic criteria such as Fried 's diagnostic index, which includes the following 8 signs: flat face, ear dysplasia, tongue protrusion, the corners of mouth turned down, hypotonia, excess skin on the neck, epicanthic fold, and a gap between the 1st and 2nd toes (Hindley & Meddakar, 2002). Examples of these cases were more common before the implementing of screening for fetal Down 's syndrome first became possible in the late 1960s, when “the positive association between maternal age and the prevalence of Down 's syndrome at birth was identified and a diagnostic test (amniocentesis and fetal karyotyping) became available” (Grudzinskas, Chard, Chapman, & Cuckle, 1995, p. 346).
Parker, Mai, & Canfield (2010) stated that “The CDC estimates that 6,000 babies are born each year in the United States with Down syndrome” (p. 1009). These figures translate into about 1 out of every 691 babies born into the United States each year as having a diagnosis of Down syndrome (www.cdc.gov), thus making it the most common chromosomal condition present in humans with more than 400,000 people with the condition living in the United States alone (www.ndss.org).
Dating back as early as the 20th century, many people across the world with Down syndrome were committed and housed in institutions, excluded from society. People did not understand their condition and viewed them as burdens upon society. It was deemed easier to send them away from the public rather than to try and understand the condition. However, since the early 1960s, parents of Down syndrome children, educators, organizations, and other professionals have generally advocated a policy of inclusion, bringing people with Down syndrome and all forms of mental or physical disability into general society as much as possible (www.ndss.org). Amongst these organizations is the National Association for Down Syndrome. It is the first organization known for and created with the purpose of advocating for Down syndrome individuals in the United States. It was founded in 1960 by Kathryn McGee (www.nads.org). Another organization included in being a voice for the Down syndrome community is MENCAP, who is an advocate for all individuals with mental disabilities, and coins themselves as “the voice for all learning disabilities”. It was founded in the UK in 1946 by Judy Fryd (www.mencap.org.uk). The first truly national organization in the U.S. to advocate for Down syndrome families and founded too by Kathryn McGee and others in 1973 is the National Down Syndrome Congress (www.wikipedia.org). Children and adults with Down syndrome are much more widely accepted in our communities today as a result of these organizations and others like them. Due to the efforts of these organizations, awareness of the condition is more widespread and it is received more with an attitude of compassion from members of society than it was decades ago.
Unfortunately, there is no known way to prevent Down syndrome and currently no cure available. However, infants and children with Down syndrome often will benefit from special programs that help to improve their physical and mental limitations. These often include occupational therapy, speech therapy, and exercises for physical coordination. Children with Down syndrome usually also need extra help or attention in school. Most young adults tested with Down syndrome have an average IQ of around 50, varying greatly from children without the condition who tests show to have an IQ of 100 on average (Goward, Grant, Ramcharan, & Richardson, 2010). Despite the fact that children and adults with Down syndrome experience developmental delays, they also have many talents and gifts and should be given the opportunity and encouragement to develop them (www.nads.org). Children with Down syndrome now attend public schools. Many babies and young children with Down syndrome attend childcare centers, playgroups, preschools, and schools alongside other children of the same age. They benefit and learn from interacting with other children. Often parents also incorporate early learning and intervention specialists to work with their families and child with the condition in order to encourage learning and development in the daily life of the child. An individual with Down syndrome often experiences more success in their education when they are placed into schools where inclusion is embraced and supported rather than isolated or sent off to a special school, as long as the different learning needs of the students are acknowledged and addressed properly (www.betterhealth.vic.gov.au). Many children with Down syndrome graduate high school and some even go on to attend post-school training or even secondary schools. Some have even become actors and actresses seen on TV in popular television shows. Rodrique, Morgan, & Geffken (1991) report that developmentally normal children and children with Down syndrome did not differ significantly from each other on the Socialization domain. Further, they did not differ significantly from autistic or developmentally normal children on either the play and leisure or coping domain. (p. 192).
People with Down syndrome have feelings just like everyone else does, and are capable of experiencing a full range of emotions from joy and happiness to sadness, frustration, and anger. They are upset by rude and inconsiderate behaviors from others and respond well to positive reinforcements and expressions of friendship (www.ndss.org). Study results show that parents can still form a loving bond and retain a good relationship with their Down syndrome child. They often form close attachments to their parents and show positive results as a result of their support and encouragement. A good foundation at home is essential to the success of the child. Organizations provide support and peer groups available to the parents and have proven to be successful in aiding the families of children with Down syndrome. An increase has been shown in the success of the Down syndrome individual since such services have become available (Sloper, Knussen, Turner, & Cunningham, 1991). Some of these children live at home long after they reach adulthood and some never leave home at all. Parents often feel a desire to always take care of their child and are fearful to let them go out into the world alone. Although it is possible for a young adult with Downs syndrome to learn to be more independent and make it on their own, some families feel more comfortable with their child remaining at home under their watch and close personal care.
Today, the average life expectancy of individuals with Down syndrome has increased to 55 years, with many people with the condition living well into their sixties and seventies (www.nads.org).
These statistics have increased significantly over the years due to research and advancements in medicine. “Certain factors seem to influence how long a person with Down syndrome will live, including ethnicity, low weight at birth, and whether the baby was born with a heart defect” (Rasmussen, Lee-Yang Wong, Correa, Gambrell, & Friedman, 1979-1998, p. 807). Unfortunately, about 50% of babies born with Down syndrome today have heart defects, which is a much higher percentage in comparison to the 1% of children born without Down syndrome who have heart defects (www.downsyndrome.about.com). The most common heart defect seen in infants with Down syndrome is an AV canal (atrioventrucular septal defect). There are three other less common heart defects seen in infants with Down syndrome that include ventricular septal defects (VSD), atrial septal defects (ASD), and patent ductus arteriosus (PDA) (www.downsyndrome.about.com). Before, a diagnosis of Down syndrome usually carried a short life expectancy, but with today’s growing advancements in treatment options, most defects can be treated with medication and corrective
surgery.
Overall, a diagnosis of having a child with Down syndrome can be devastating and very frightening. However, today, it does not mean that the child will not have a good quality of life and accomplish many things. We have definitely come a long way in our understanding of Down syndrome and individuals living with it every day. Maybe one day there will be a cure, but until then, these individuals are members of our society who are trying (like anyone else) to live life to the fullest. People with Down syndrome are a unique and special part of our society – a part that should be embraced, appreciated, and loved. References
Besser, L. M., Shin, M., Kucik, J. E., & Correa, A. (2007). Prevalence of Down syndrome among children and adolescents in metropolitan Atlanta. Birth Defects Res A, 79, 765-74. Retrieved from http://www.ncbi.nlm.nih.gov
Choi, H., Van Riper, M., & Thoyre, S. (2012, March - April, 2012, Feb. 3). Decision making following a prenatal diagnosis of Down syndrome: an integrative review. J Midwifery Women’s Health, 57(2), 156-164. http://dx.doi.org/10.1111/j.1542-2011.2011.00109.x.
Goward, P., Grant, G., Ramcharan, P., & Richardson, M. (2010). Learning Disability: A Life Cycle Approach to Valuing People. United Kingdom: McGraw-Hill International.
Grudzinskas, J. G., Chard, T., Chapman, M., & Cuckle, H. (1995, August 24). Screening for Down’s syndrome. The New England Journal of Medicine, 333-532. http://dx.doi.org/10.1056/NEJM199508243330825
Hindley, D., & Meddakar, S. (2002). Diagnosis of Down’s syndrome in neonates. Arch Dis Child Fetal Neonatal Ed 2002, 87, F220-F221. http://dx.doi.org/10.1136/fn.87.3.F220
Mansfield, C., Hopfer, S., & Marteau, T. M. (1999, September 22). Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. Prenatal Diagnosis, 19(9), 808–812. http://dx.doi.org/10.1002/(SICI)1097-0223(199909)19:93.0.CO;2-B
Parker S.E., Mai C.T., Canfield M.A. (2010). Updated National Birth Prevalence Estimates for Selected Birth Defects in the United States, 2004-2006. Birth Defects Res A, 88, 1008-1016. Retrieved from www.ncbi.nlm.nih.gov
Rasmussen, S. A., Lee-Yang Wong, M. S., Correa, A., Gambrell, D., & Friedman, J. M. (1979-1998). Survival in infants with Down syndrome, metropolitan Atlanta. Journal of Pediatrics, 148, 806-12. Retrieved from www.ncbi.nlm.nih.gov
Rodrique, J. R., Morgan, S. B., & Geffken, G. R. (1991, June 1). A comparative evaluation of adaptive behavior in children and adolescents with autism, Down syndrome, and normal development. Journal of Autism and Developmental Disorders, 21(2), 187-196. http://dx.doi.org/10.0007/BF02284759
Sloper, P., Knussen, C., Turner, S., & Cunningham, C. (1991, May). Factors related to stress and satisfaction with life in families of children with Down syndrome. Journal of Child Psychology and Psychiatry, 32(4), 655-676. http://dx.doi.org/10.1111/j.1469-7610.1991.tb00342.x