Also referred to as Trisomy 21, Down syndrome is a genetic condition characterized by the presence of extra genetic material. This additional genetic material leads to developmental delays, affecting both the mental and physical growth of a child.
Down syndrome (DS) is one of the most common genetic birth disorders, affecting many individuals. The cells of the human body comprise 23 pairs of chromosomes. These carry the genetic material responsible for our inherited traits. Each parent contributes half of each chromosome pair. However, individuals with Down syndrome possess an additional 21st chromosome, resulting in a total of three copies instead of the usual two.
The condition affects about 1 in 830 live births. Down syndrome is characterized by the following mild to moderate symptoms:
Additionally, many individuals with Down syndrome are more prone to heart defects, gastrointestinal problems, leukemia, early-onset Alzheimer’s disease, and other health challenges. Through a comprehensive set of screenings and tests, it is possible to detect Down syndrome both before and after a baby is born.
While Down syndrome cannot be prevented, it is possible to detect it before a child is born. The associated issues that may arise with Down syndrome can be addressed and managed, and there are numerous resources and support available to assist children and their families living with this condition.
With advancements in medical care and increased social inclusion, the life expectancy of individuals with Down syndrome has significantly risen in recent decades. On average, a person with Down syndrome in good health can expect to live to the age of 55 or even beyond.
Down syndrome is a genetic condition named after the physician John Langdon Down. The physician described it in the year 1862. He was given credit for distinguishing the condition from a mental disability. When Dr. Down observed some peculiar physical characteristics in individuals with Down syndrome carefully, he came to the conclusion that these characteristics resembled those of the Mongolian race described by Blumenbach. Hence, he used the term “mongoloid” to describe the condition. However, this term fell out of usage in the 1970s due to its inaccuracies and the fact that it was derogatory and offensive.
Down syndrome can cause several symptoms. These may vary from one person to another. Some individuals may grow up to live efficiently on their own, while others may require special assistance taking care of themselves.
Although mental abilities for individuals with DS may vary, most people with Down syndrome suffer from mild to moderate problems related to thinking, understanding, and reasoning. These individuals continue learning and picking up new skills all their lives. However, they may face challenges reaching important milestones early, such as walking, speaking, and developing social skills.
Individuals with Down syndrome are known to share some common physical features. These may include:
While many individuals with Down syndrome do not experience additional health complications, some may encounter certain conditions. Commonly observed health conditions among these individuals include hearing difficulties, heart problems, and visual impairments.
Most individuals with Down syndrome are known to have similar symptoms and lead healthy lives. However, some people may be born with birth defects or other health-related issues. These may include:
Irrespective of the specific type of Down syndrome, all individuals with the condition share a common characteristic: the presence of an additional, essential segment of chromosome 21 in either all or some of
their cells
The exact cause of the additional full or partial chromosome in Down syndrome remains unknown. However, advanced maternal age has been identified as the only factor associated with an increased likelihood of having a baby with Down syndrome due to nondisjunction or mosaicism. Interestingly, despite this link, it is worth noting that 51% of children with Down syndrome are actually born to women under the age of 35, owing to the higher birth rates in younger women.
Extensive scientific research has not identified any conclusive evidence suggesting that Down syndrome is caused by environmental factors or activities of the parents prior to or during pregnancy.
The additional partial or complete copy of the 21st chromosome, which gives rise to Down syndrome, can be inherited from either parent. Interestingly, about 5% of cases have been traced back to the father as the source of the additional chromosome.
Down syndrome is primarily categorized into three parts
This is the most common type of DS, characterized by each body cell having 3 copies of chromosome 21 instead of 2.
The type is characterized by each cell carrying part of an extra chromosome 21. Some may even carry an entirely extra one. However, it is attached to a different chromosome instead of being on its own.
This is known to be the rarest type, characterized by a few cells in the body carrying chromosome 21.
It is difficult to determine the type of Down syndrome an individual has based on their physical appearance. Although the symptoms of all three types share a close similarity, individuals with mosaic Down syndrome may show only mild symptoms due to only a few cells carrying the extra chromosome.
As a general rule, the gynecologist will conduct prenatal screening tests on a woman during pregnancy to assess the chances of the fetus developing Down syndrome. Additionally, diagnostic tests can be conducted to accurately diagnose the condition during pregnancy.
These tests aim to evaluate the likelihood of having a child with Down syndrome. However, these are not capable of providing a definitive diagnosis. Screening tests may involve analyzing indicators of Down syndrome in the blood of the expectant parent. Another screening method involves an ultrasound, where the healthcare provider examines the presence of certain markers, such as excess fluid behind the baby’s neck. It is important to note that a screening test can yield normal results and not detect signs of Down syndrome, even if the condition is present.
Diagnostic tests performed during pregnancy can provide a definitive confirmation of a Down syndrome diagnosis, typically following a positive screening test. It is important to note that diagnostic testing carries a higher level of risk for both the expectant parent and the developing fetus. Some of the tests that may be conducted include:
The above-listed tests can detect any changes in chromosomes causing a Down syndrome diagnosis.
Following the birth of your baby, healthcare providers conduct a physical examination to identify any physical indications of Down syndrome. The diagnosis is confirmed through a karyotype test, a special blood test performed by the baby’s pediatrician. During this test, a small sample of your baby’s blood is obtained and examined under a microscope. The aim is to detect the presence of an additional 21st chromosome, which aids in diagnosing the condition.
Some parents are more vulnerable to giving birth to a baby with Down syndrome. The common risk factors include
Giving Birth Late in Life: A woman’s chances of having a child with Down syndrome increase with age. Older eggs are more prone to improper chromosome division. Women over 35 years of age planning a pregnancy are at greater risk of conceiving a child with Down syndrome. However, it is also true that the majority of children with Down syndrome are born to women who are under the age of 35, as younger women tend to have a higher number of pregnancies.
Carriers of genetic translocation DS: Both males and females have the potential to transmit the genetic translocation for Down syndrome to their offspring.
One child with Down syndrome: Parents with one child with Down syndrome and a translocation themselves are more prone to having another child with DS. Parents can consult with a genetic counselor to learn more about their risk.
While there is no cure for Down syndrome, various treatment options are available to support your child in reaching their maximum potential. The primary objective of treatment is to promote your child’s physical and cognitive development. Treatment options may include:
AbleMinds stands out uniquely by offering a comprehensive range of scientifically proven, individualized therapies that cater to the specific needs of special children, all conveniently accessible under one roof. Our therapies include:
Physical therapy: It encompasses a variety of activities and exercises designed to boost motor skills, strengthen muscles, and develop better posture and balance.
Speech-Language Therapy: It helps children improve communication skills and use language more effectively.
Occupational therapy: It teaches children to find ways to adjust day to day tasks. The therapy helps children understand and fulfill one’s needs and abilities.
Emotional and Behavioral Therapies: Children are taught to give appropriate responses to both desirable and undesirable behaviors.
