What is Down Syndrome? – Express Urdu

It is very important for us to know what is Down syndrome and what are its symptoms in children suffering from it. Down syndrome is a genetic condition that gradually causes serious physical and developmental problems.

People with Down syndrome are born with an extra chromosome. Chromosomes are bundles of genes, and your body depends on having the right number of them. With Down syndrome, this extra chromosome causes many problems that affect you mentally and physically.

Down syndrome is a lifelong condition. Although it cannot be cured, doctors now know more about it than ever before. If your child has this disease, getting the right care as early as possible can help them live a full and meaningful life, which can make a big difference.

Physical symptoms

Although not all people with Down syndrome have the exact same physical symptoms, there are certain characteristics that are common to this genetic disorder. This is why people with Down syndrome have the same appearance.

Three features that are found in almost everyone with Down syndrome are: the epicanthic fold, the extra skin on the inner eyelid, which gives the eyes an almond shape. High palpebral fissures, drooping eyes. Brachycephaly, a small head somewhat flattened posteriorly.

Other symptoms that are seen in people with Down syndrome, but not in everyone: These include light-colored spots in their eyes.

These are called brush field spots. A small, somewhat flattened nose, a small open mouth includes a protruding tongue and small ears. People with Down syndrome may have abnormal teeth, a narrow palate and deep fissures on the tongue, known as a furred tongue. They may have round faces, short necks with extra skin at the nape of the neck.

Other physical characteristics seen in Down syndrome include a crease in the palms of their hands, as well as small fingers with a fifth finger or pinky that is curved inward, known as clinodactyly. They often have straight hair that is fine and thin. In general, people with Down syndrome are short in stature with short limbs.

They may also have more than normal space between the big and second toes and extra flexor joints. It is important to understand that none of these facial or other physical features are abnormal in themselves, nor do they cause any serious problems. However, if a doctor sees these characteristics together, he or she will likely suspect that the child has Down syndrome.

Health problems

In addition to facial and physical characteristics, children with Down syndrome are at increased risk of developing a number of medical problems. People with Down syndrome may experience the following health problems:

(1) Muscle weakness

Almost all infants with Down syndrome have decreased muscle tone, or muscle tension or resistance, called hypotonia. That is, their muscles are weak and some appear to hang loose. Muscle weakness can make rolling, sitting, standing, and talking more difficult.

In infants, hypotonia can also cause feeding problems. Hypotonia cannot be cured, but it usually improves over time. Physical therapy can help improve muscle tone. Hypotonia can lead to orthopedic problems, another common problem associated with a diagnosis of Down syndrome.

(2) Vision problems

Vision problems are common in Down syndrome and are more likely to occur with age. Examples of such vision problems include nearsightedness, myopia, farsightedness, hyperopia, crossed eyes, strabismus, or rhythmic eye movement, nystagmus. It is very important that children with Down syndrome have eye exams early, as most of their vision problems can be corrected.

Initial eye tests should always be done by a qualified doctor, as his report will depend on the diagnosis and treatment of your possible disease.

(3) Heart defects

About fifty percent of children with Down syndrome are born with heart defects. Some of these heart defects are mild and can resolve on their own without medical treatment. Other heart defects are more severe, requiring surgery or medication.

(4) Hearing loss

Hearing problems are common in children with Down syndrome, particularly otitis media, which affects about fifty to seventy percent and is a common cause of hearing loss. About 15 percent of children with Down syndrome have hearing loss at birth.

(5) Gastrointestinal problems

About five percent of infants with Down syndrome will have gastrointestinal problems such as a narrowing or obstruction of the bowel or anus. The anus is the opening where the gastrointestinal tract ends and exits the body. Most of these deformities can be corrected with surgery.

Absence of nerves in the colon, this is more common in people with Down syndrome than in the general population but is still quite rare.

(6) Thyroid problems

People with Down syndrome may also have problems with the thyroid gland, a small gland located in the neck. In this they do not produce enough thyroid hormone, which can result in hypothyroidism. The medicine of this disease should be taken for the whole life.

(7) Blood cancer

Very rarely, about one percent of the time, a person with Down syndrome can develop leukemia. Leukemia is a type of cancer that affects the blood cells in the bone marrow. Symptoms of leukemia include bruising easily, fatigue, pallor, and an unexplained fever. Although leukemia is a very serious disease, the survival rate is high. Leukemia is usually treated with chemotherapy, radiation, or a bone marrow transplant.

It’s important to remember that not everyone living with Down syndrome will have all the symptoms, characteristics, health conditions, or mental problems described here. Nor does the number of physical problems a person with Down syndrome has correlates with their mental ability. Each person with Down syndrome has their own unique personality and strengths.

In nutritional matters, a patient or child with Down syndrome should be prescribed a diet based on his physical health, digestive system and physical and mental exertion. Do this in the light of nutritionist and doctor’s opinion, self-medication whether it is herbs or other medicine should not be used.

(Mahnaz Qamar is a nutritionist and a team member of the Public Awareness Department of the Pakistan Islamic Medical Association (PIMA) Women’s Wing.)