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All you need to know about Down syndrome


What is Down syndrome?

Down syndrome is a genetic condition that affects the developmental and physical growth of an individual. These genetic problems range from mild to severe from person to person. Individuals having this condition have a high risk of developing other medical problems as well. Not every child with Down syndrome has the same level of intellectual impairment, but all the affected persons experience some cognitive delay.


Chromosomes are strands of DNA carrying packs of genes that determine a person's physical and mental state at birth. The human body should have a calculated number of chromosomes to grow healthy. Individuals with Down syndrome have a full or partial extra chromosome. This extra chromosome becomes a root cause of various physical and mental issues faced by individuals having Down syndrome.


The additional copy of the chromosome changes the child's developmental process, causing several mental and physical issues linked with Down syndrome. Some of the general bodily characteristics of Down syndrome are an upward tilt of the eyes, muscle tone is low, small stature, and across the palm only a single crease. These characteristics are present in almost all individuals with Down syndrome but not with the same severity level, and in some cases, not present.


Physical, medical, and intellectual problems associated with Down syndrome vary extensively in every person. Some people with this condition can lead a healthy life without any help, while others need medical attention.


How common is Down syndrome?

Every 1 out of 700 pregnancies is affected by Down syndrome. Although the real cause of this condition is unknown and there is no method to prevent it, the study shows that mothers getting pregnant after 35 years of age have an increased chance of carrying a baby with this condition. The rate of occurrence of Down syndrome in mothers before the age of 30 is only 1 in 1,000. However, after 40 years of age, this number is increased to 12 in 1,000 pregnancies.


Causes

The human body is made of numerous cells, and each of these cells has a nucleus filled with genetic information stored in genes. These genetic codes are inherited from mother and father and are responsible for all our inherited traits. Genes are grouped in a rod-like structure which is named a chromosome. Usually, the nucleus of every cell holds 23 pairs of these chromosomes, which are inherited from both mother and father. When an individual has a full or partial additional copy of chromosome 21, this syndrome occurs.


Even though Down syndrome is sometimes inherited from the parents, most of the time, it is not inherited. Mostly a fault in the division of the cells during early pregnancy causes this genetic disorder. Translocation Down syndrome is the condition where this syndrome is inherited from the parent, but that is very rare. Only 3-4% of the children with Down syndrome have it passed from a parent. Other 96% of the time, this syndrome is caused by chromosome 21(trisomy 21), which means the person has three copies of this chromosome in every cell instead of the normal two copies.


This process starts right from the early stage of fetus development, where either sperm cell or egg cell has an abnormal division. This abnormal or altered division hinders the proper development of the fetus and causes characteristics linked with this syndrome.


Risk factor

Although the real reason behind the occurrence of Down syndrome is not known, one major factor that increases the chances of this syndrome is the mother's age. After 35 years of age, women getting pregnant are more likely to have a baby with Down syndrome than younger mothers. However, the rate of babies with Down syndrome to younger mothers is greater as the number of babies born in younger women is more.



Symptoms

Even though individuals with Down syndrome might proceed and appear similar, but they have different abilities. Usually, they have a slightly lower IQ, making it difficult for them to speak and do other tasks normally.


Cognitive, intellectual, and physical symptoms are caused by Down syndrome. Not all individuals show the same level of symptoms, but these are present in most cases.


Some of the common physical symptoms are as follow:

● Upward slanting eyes, iris with a white spot, slanted fissure, and have epicanthic folds of skin on the inner corner of the eye

● The nasal bridge is flat

● Muscles are of low tone

● Short neck and small physique

● The tongue can stick out long

● A single line on the palms of both hands

● Wider space between the second and large toe

● In fifth finger flexion, the furrow is single


Mild to severe intellectual disability is seen among individuals having Down syndrome. However, this delayed cognitive development is highly variable in all the affected persons.


Common symptoms related to cognitive development are as follow:-

● Slow development of speech and language

● Low level of attention

● Problems in sleep

● obstinacy and bad temper

● Slow learning


Along with these common symptoms, there are also health problems relating to organs and body functions. Most individuals with Down syndrome also have heart-related issues that need medical attention.


Treatment

There is no precise cure for Down syndrome. People having this syndrome may have some other health issues and will receive care for that specific problem. This syndrome is incurable. There are only management programs to make the life of the patients better and treat some underlying health issues. Physical, educational, or speech therapies may be offered so that individuals with Down syndrome can live productive and happy life.


It is a lifelong condition, and certain early therapies can help individuals with Down syndrome improve their skills. Although many children with Down syndrome go to regular schools, some may need extra attention and help at school to deal with things better.


Down syndrome is a condition that may limit a person's performance, but it cannot stop them from performing their usual tasks. Children may take longer than normal to acquire basic life skills like language development, motor skills, and physical growth. Still, with a little help and the right stimulation, they can lead a normal life and, in some cases, better than a normal person.


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