What is Down Syndrome?
Down syndrome is a condition resulting from an additional specific chromosome within genetic makeup. The presence of this extra gene is what leads to both the physical and mental complications.
It’s lifelong disability resulting in distinctive facial features, learning difficulties, birth defects and an increased risk of developing other diseases. (1)
It’s estimated, around 1 baby in every 1000 is born with down syndrome across the globe. (2)
Our body is full of genetic cell lines. Every human is supposed to have two sets of 23 chromosomes, which when doubled makes a total of 46.
The different chromosomes are identified with numbers to make it easier to keep track. Each number determines things like our gender, facial features and body feature.
When an embryo is made, it’s supposed to receive half of its chromosomes from the mother and half from the father. However in the case of down syndrome an improper cell division takes place so the embryo receives chromosome 21 twice.
The extra gene joins the chromosome, therefore instead of having 46 the embryo gets 47.
Down syndrome varies from person to person. Some experience severe symptoms while others experience only mild.
Some of the most noticeable symptoms are the facial features. Down syndrome leads to a short neck, a smaller head with a flat face.Other symptoms include eyelids turning upwards and small ears.
Also, on the colored part of the eye tiny white spots are present. These spots are called Brushfield spots. (3)
Signs on the main body point towards weak muscle tone which leads to excessive flexibility. Height is also likely to be shorter than average.
Down syndrome causes the child to grow at a slower rate. This is why minors with the condition are usually shorter than other children of the same age. (4)
Intellectual and Developmental Disabilities
Down syndrome does affect the developmental stages in early childhood, however it does not prevent them.
Children with down syndrome will develop talking and walking skills, although it will be later than average.
Some people afflicted with the disability can have poor social skills, while others flourish. This is why it’s important to treat people with down syndrome like any other, but with more understanding.
Down syndrome got its name back in 1866, when Mr John Langdon Down described and documented the condition.
However, even though symptoms were acknowledged, causes remained unclear until years later once scientific developments had caught up
There are three types of down syndrome: complete trisomy 21, mosaic trisomy 21 and translocation 21. Down syndrome can also be divided into four “age” stages:
This is the prenatal stage, where the risk for miscarriage, stillbirth and termination is high.
Many down syndrome pregnancies actually end in miscarriage before the 10 week mark.(5)
The risk of stillbirths increases with down syndrome pregnancies, where 2.6 percent of babies are stillborn. And in 2004 termination of down syndrome pregnancies happened 59 percent of the time. (6)
This stage is between 0-18 years of age.
During this phase the risk for heart dysfunctions leading to death before the age 10 is high. Although corrective cardiac surgery in early childhood can be a prevention. (7)
Children with down syndrome also have an increased risk of leukemia. A case study showed that twelve out of fourteen cases developed leukaemia before the age of 5
Vital organ dysfunctions are often seen in children with down syndrome. Therefore the risk for heart disease and respiratory diseases are high. (8)
This stage is between 19-40 years. The risk for age-related disorders increases at a faster rate for someone with down syndrome.
Conditions such as dementia and Alzheimer’s disease, show much earlier in those with down syndrome.
There is also a larger risk of cardiac failure and lung infections. (9)
As people with down syndrome age faster, their “senescence” (growing old) stage appears sooner than normal, around 40 years of age.
The “senescence” stage of life appears earlier because of deteriorative changes in the cells and molecules.
After 65 years of age the aging is onset.(10)
Treatment of down syndrome is both medical as well as rehabilitating, this ensures a successful development.
Early treatment is vital to make the biggest and best impact on the child’s life.
It’s normal for parents to have a few different specialists who can help with their child’s development, such as a primary care and developmental pediatrician, a speech pathologist and a physical therapist. Behavioral training is often recommended, this is because children with down syndrome can get frustrated easily which could lead to compulsive behavior. (11)
Medical complications usually follow down syndrome due to a flaw in the immune system. Development of complications within the intestines and other stomach organs, which can lead to digestive problems, heartburn and celiac disease.
Some cases require corrective surgery as early as possible, but otherwise it’s treated with a special diet.
People with down syndrome have a higher risk of developing heart problems due to a failure in the structure of the heart.
50 percent of people with down syndrome have some sort of heart problem, where many newborns require early heart surgery. (12)
Many require occasional treatment throughout their lives.
Many children with down syndrome are at increased risk of leukemia. This is one cause for many premature deaths. (13)
Leukemia in children with down syndrome is treated according to the usual protocols. (14)
People with down syndrome should be monitored closely because they have an increased risk for ear infections and dental problems, hearing and sight issues, as well as seizures.
Treatment may be required on and off throughout the person’s life.
Sleep apnea and other breathing problems can also occur due to soft tissue, therefore it’s essential young children are closely monitored while they sleep.
What is down syndrome? It’s a condition caused by irregularities in genetic cell division which results in a lifelong disability.
What are the signs of down syndrome? The most visible signs are the distinctive facial features which appear flat due to lack of muscles. Other signs include lack of height and more flexibility than the average person.
How do you develop down syndrome? You are born with down syndrome. One of the main connections with down syndrome is maternal age. Because the older eggs get, the higher the possibility of developing improper cell divisions. As a woman ages, her chances of conceiving a child with down syndrome increases – especially after 35 years of age.
How are you diagnosed with down syndrome? Diagnosis can be done during early stages of pregnancy with simple procedures such as screening and diagnostic tests. Screening includes a combination of an ultrasound and a blood test. If these come back positive for down syndrome, diagnostic tests follow, which includes cell samples being extracted from the uterus and next a sample of the fluid surrounding the baby. These tests combined with the maternal age will show if the baby has down syndrome. After birth doctors also look at the facial features and may use a blood test to be sure. (15)
What is the best treatment for down syndrome? Rehabilitation treatment in early childhood is the best way forward. Primary care and development pediatricians will help. If the child shows signs of medical complications, treatment will be implemented as early as possible.
What is the long term complications of down syndrome? Unfortunately down syndrome does come with its medical complications. These include heart problems and an increased risk for cancer. Long term include dental and ear problems, obesity, sight and hearing impairment and a higher risk for developing dementia and alzheimer’s disease.
Is down syndrome considered a disability? Yes, it is considered a mental and physical disability. However with early treatment the disability can be minimized, people with down syndrome are considered competent and are required to some extent to attend school.
Is there a cure for down syndrome? Till now there’s no cure for down syndrome, however early rehabilitation treatments can alleviate symptoms to a degree. Medical treatment can keep clinical complications at bay.
Is down syndrome life threatening? Yes it can be, medical problems usually follow. Heart failure, child leukemia, breathing problems and immune disorders are all potential risks. However only a few decades ago people with down syndrome were not expected to live past their teen years. Today many reach 60 years plus.
To an extent down syndrome is still somewhat unknown.
Down syndrome is a genetic disorder which affects the person both mentally and physically. It is considered a disability, however this can be minimized through proper treatment and early intervention.
It’s clear those with down syndrome have many obstacles to overcome throughout their lives. They should be monitored closely because serious medical complications usually follow.
In fact many do require early childhood surgery to prevent further life threatening conditions.
Down syndrome is a disability, but individuals should be treated fairly as it can have negative impact on their life. Stimulating activities are vital to ensure a healthy and happy life.