Down syndrome is an inherited disease caused by an extra complete or partial copy of chromosome 21 as a result of irregular cell division. This additional genetic material is responsible for the behavioural alterations and physical characteristics of Down syndrome. Individuals with Down syndrome experience varying degrees of severity, resulting in permanent learning disability and developmental delays. It is the most prevalent inherited chromosomal condition in children and the leading cause of learning disabilities. It is also a common cause of other medical problems, such as cardiac and stomach problems. Better awareness of Down syndrome, as well as early intervention, will significantly improve the quality of life for children and adults with this condition, allowing them to live more rewarding lives. Learn how to prevent down syndrome.
How to Prevent Down Syndrome
Down syndrome is a genetic disease and the most common autosomal chromosome abnormality in humans, characterized by the movement of extra genetic material from chromosome 21 to a newly developed embryo. These extra genes and DNA disrupt embryonic and fetal development, resulting in physical and mental defects. Each patient is unusual, and the severity of symptoms can vary greatly. Understand down syndrome below. And after that, we can proceed to understand how to prevent down syndrome.
What is Down Syndrome
People with Down syndrome are born with an extra chromosome, which alters the development of their brain and body. Down syndrome is a hereditary condition. Most babies are born with 46 chromosomes, with 23 pairs of chromosomes in each egg. A chromosome is a structure made up of chromosomes that are made up of DNA. Genes decide how you live and mature in the womb and after birth. The majority of Down syndrome babies are born with an extra copy of chromosome 21, with three copies of the chromosome instead of two. As a result, people born with Down syndrome face physical and emotional difficulties during their lives. They are distinguished by their distinct body and facial features. They are more likely to grow slowly and are more vulnerable to such medical problems.
Types of Down Syndrome
There are various types of Down Syndrome. They are:
- Trisomy 21: Possessing an extra copy of a chromosome is referred to as having a trisomy. Trisomy 21, the most common form of Down syndrome, happens where a developing infant has three copies of chromosome 21 in each cell rather than the usual two copies. This form accounts for 95% of all cases
- Translocation: A single or partial copy of chromosome 21 is bound to another chromosome in this form of Down syndrome. Translocation accounts for 4% of all incidents
- Mosaicism: In the rarest form of Down syndrome (only 1%), some cells have 46 chromosomes and others have 47. Of both cases, the extra chromosome is chromosome 21
The appearance of a person with Down Syndrome
The Down syndrome infant has a distinct look. However, any part of the child’s appearance does not have to be present and the phenotype, or how the genes make the child look, can vary greatly between patients.
- There are a small head and short neck,
- A flat face, and upward slanting eyes,
- Ears are flat and positioned lower than “normal,”
- The tongue protrudes and seems to be too large for the mouth,
- Hands tend to be wide, with short fingers and there is just a single flexion crease in the palm, and
- Joints tend to be more flexible and muscles may lack tone.
The infant may have growth retardation, and while he or she will be the average size as a newborn, he or she may not grow as tall. An adult male with Down syndrome stands 5 ft 1 in tall, while a female stands 4 ft 9 in tall. Bowleggedness is fairly popular. Obesity develops with age. There is a reduction in executive function, and the IQ ranges from mild (50 to 70) to moderate (35 to 50). Patients with Mosaic Down syndrome can have an IQ that is 10 to 30 points higher. Language processing delays may occur as a result of both hearing disability and speech delay. Gross motor skills such as crawling and walking can take a long time to acquire, as can fine motor skills.
Symptoms of Down Syndrome
Each person with Down syndrome is unique, with intellectual and developmental issues that can be mild, moderate, or extreme. Few people are in good health, and others have serious health issues, such as serious heart conditions. Down syndrome is characterized by distinct facial characteristics in both children and adults. While not all individuals with Down syndrome have the same characteristics, some of the most prominent ones are as follows:
- Flattened face
- Small head
- Short neck
- Protruding tongue
- Upward slanting eyelids (palpebral fissures)
- Unusually shaped or small ears
- Poor muscle tone
- Broad, short hands with a single crease in the palm
- Relatively short fingers and small hands and feet
- Excessive flexibility
- Tiny white spots on the coloured part (iris) of the eye called Brushfield’s spots
- Short height
Infants with Down syndrome can be of normal height, but they usually develop slowly and stay shorter than most children of their generation.
Prevention of Down Syndrome
There is no way to avoid being born with Down syndrome. If you are at high risk of raising a child with Down syndrome or even have one, you can speak with a genetic counsellor before getting pregnant. A genetic counsellor will help you appreciate the chances of raising a Down syndrome infant. He or she will also illustrate the many pregnancy assessments available and the benefits and drawbacks of research. So when you think about How to Prevent Down Syndrome, you need to remember that down syndrome is a condition that cannot be prevented.
Researchers remain baffled as to why certain people are born with Down syndrome. Anyone of any ethnicity or socioeconomic status will be impaired. What is understood is that the probability of having a child with Down syndrome rises with age. Women above the age of 35 are most likely to have a pregnancy disrupted by the condition. However, since younger mothers have higher birth rates, the majority of babies with Down syndrome are born to women under the age of 35.
Any parents are more likely than others to have a child with Down syndrome. Among the risk factors are:
- Increasing Maternal Age – Since older eggs have a higher risk of incorrect chromosome division, a woman’s odds of having a child with Down syndrome rise with age. After the age of 35, a woman’s chances of having a child with Down syndrome rise. However, since younger mothers have much more births, the majority of infants with Down syndrome are born to women under the age of 35
- Being carriers of the Down syndrome hereditary translocation – Both men and women will carry on the Down syndrome genetic translocation to their offspring
- Having had one Down syndrome child – Parents who have one child with Down syndrome and who have a translocation are more likely to have another child with Down syndrome. A genetic counsellor may assist parents in determining the likelihood of raising a second child with Down syndrome
People with Down syndrome can experience a number of complications, some of which become more noticeable as they age. Complications may include:
- Heart defects
- Gastrointestinal (GI) defects
- Immune disorders
- Sleep apnea
- Spinal problems
- Other problems
Because of the many anatomical disorders involved with chromosomal defects, several trisomy 21 fetuses struggle to mature normally and are miscarried. Congenital heart disease (failure of the heart to function normally) and respiratory infections raise the risk of infant mortality in the first year of life. Given the difficulties in the baby years, people with Down syndrome are living longer lives as the diagnosis and care of chronic medical problems improves. An individual with Down syndrome will live for 50 years or longer, depending on the seriousness of underlying medical problems.
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