Down Syndrome is a Congenital Condition

Down syndrome is a congenital condition that doesn’t discriminate from race, economic status, culture as it is chromosomal condition. In this paper I am going to explain the causes, signs and other different things you can do to help and teach a person with Down Syndrome and their families.

The history of Down Syndrome started in 1862 and “was first described by an English physician John Langdon Down who helped to differentiate the condition from mental disability.” Many people during that time were killed, abandoned or ostracized from society.

“In the 20th century, it was common for these individuals to be institutionalized and they did not receive appropriate treatment for the associated medical complications.” For this reason, many children who presented with Down Syndrome would die during infancy or early adulthood. It wasn’t until the 1050’s that techniques were discovered that could help identify that there was an extra chromosome and its shape. “This led to the understanding that trisomy 21 was the cause of Down’s syndrome.” There are three different types of Down Syndrome they are all caused by different faults with the 21-chromosome material; which include Regular trisomy 21 it occurs when all the cells in the body have an extra chromosome 21, Translocation occurs when extra chromosome 21 material attaches itself to another chromosome, Mosaic occurs when only some of the cells has an extra, third, chromosome 21.

There are many presenting signs and symptoms of Down Syndrome, this would also include objective and subjective data that you may see or the individual may express. Physical symptoms include eyes which slant upwards, small ears, flat back of the head, protruding tongue, small mouth, flattened nose bridge, white spots on the iris, short fingers, loose skin on the back of the neck, loose joints, poor muscle tone and low birth weight. Individuals with Down Syndrome also can be slower in development than children of similar age which may include that it takes them longer to learn to speak, or to read. All individuals with Down Syndrome have a different degree of learning disability, it can affect some more severely than others. The individual with Down Syndrome will also need to be monitored for conditions that can affect them at a higher rate because they are more likely to develop health conditions. These conditions include a congenital heart defect which means they will have it since birth, there are different types that can affect individuals with Down Syndrome. One of the most common is an atrioventricular canal defect which causes a hole to form within the heart and can result in problems with the heart valve. Other heart problems include ventricular septal defect and this is when a hold occurs in the septum in the lower part of the heart, which causes the heart to have to work harder to pump more blood around the body and can cause the heart to become enlarged. Also, with Down Syndrome they can have problems with their ears and sometimes hearing, a common condition is called Glue ear which is caused by a buildup of fluid in the middle ear. In addition, they may have sight problems, squinting is one of the most common but often can be treated with glasses, other problems include lazy eye, short sightedness, long sightedness, eye infections, nystagmus, keratoconus. They are at an increased susceptibility to infection it is thought that this may be a result of an abnormality to the immune system. Lastly individuals with Down Syndrome as they age are more likely to develop dementia, compared to others they tend to develop the disease at an earlier age.

In individuals with Down Syndrome your nursing interventions should include providing stimulation in a supervised setting which should also include for their risk of delayed disability you will enlist the help of Occupational Therapy, Physical Therapy, Speech Therapist and special education; also, as a nurse you should talk slowly and use pictures when communicating with a child. For their risk for infection you can teach the family to good handwashing skills. When it comes to the parents provide them with resources of programs and activities to address developmental delays in the early years and involve the parents in the care of the child. Explaining procedures and treatments as you go along caring for their child to help them understand more and be able to help and do more for their child.

There is no standard treatment for Down Syndrome, they are based of the individual’s needs and limitations. They will be receiving care from a variety of health professionals which can include physicians, special educators, speech therapist, occupational therapist, physical therapist and social workers; this usually begins with early intervention from all these different types of health professionals. “Most children with Down Syndrome are eligible for free, appropriate public education under federal law. Public Law 105-17 (2004): The individuals with Disabilities Education Act makes it possible for children with disabilities to get free educational services to help them learn as much as they can. Each child is entitled to these services from birth through the end of high school, or until the age 21, whichever comes first. Most early intervention programs fall under the legislation.” Physical therapy started at an early age will help to increase muscle strength and to help improve posture and balance. They also help the child and parents learn to do things a certain way to possibly help avoid any future complications. Speech therapy can help the child to use communication and language skills more effectively because in children with Down Syndrome they often learn to speak later and a Speech Therapist can help the child learn different means of communication which can include helping the child learn to use pictures to communicate or even sign language until they are able to learn to speak. Occupational therapy is available to help the child with teaches self-care

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