Down Syndrome : Causes, Symptoms, Diagnosis and Treatment

What is down Syndrome

Down syndrome, named after John Langdon down who identified the syndrome, is one of the more common chromosomal disorders and includes some mental defect degree.

According to the research, about 1 in 700 babies in the United States is born with Down syndrome. It is a common form of a genetic disorder in the United States.

This  is a chromosomal problem caused due to chromosome 21, or “trisomy 21,” seen in 1 out of 800. it is the most frequent genetic cause of mild to moderate mental retardation.

Characteristics of Down syndrome 

It is usually associated with physical developmental delay, characteristic facial features, and mild to moderate intellectual disability.

I had earlier shared Is Autism An Intellectual Disability?: Symptoms, Causes, Treatment I hope you read the post.

Down syndrome health issues
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Table of Contents

What are the causes of down syndrome?

In family, history genes are a main cause. These genes are taken up in chromosomes. When the child’s cells develop, each cell receives 23 pairs of chromosomes, in total 46 chromosomes. Chromosomes are found from half mother and half father.

I have already covered Mentally Challenged Child: How To Deal With Them? It will defiantly help you.

In children, a chromosome is not isolated from the right. The child is born with three copies instead of two or a partial copy of chromosome 21. It causes chromosomal problems as brain and physiological characteristics develop.

Down syndrome symptoms

Symptoms of can be different for everyone. They can be divided into two physical and mental health issue, Physically Down syndrome symptoms:

  • Muscle flexion or weakening at birth.
  • Shortening of the neck, the flatness of nose.
  • Having small ears, smallmouth.
  • The separate joint between the bones of the head.
  • Palm wrinkles
  • Peek eyes upwards.
  • Having broad and short hands with tiny fingers.
  • White spots on the part of the eye.
  • Physical development is not comparable to normal children
  • Less than average height
  • Head loss
  • The inner corner of the eye is round rather than pointed.

I also wrote an article on Factors Affecting Growth and Developments of Child also you can read.

Symptoms of mental Down syndrome:

  • It takes time developmentally and socially.
  • Decreased ability to think.
  • Do not feel late for anything.
  • Learning a thing or task very slowly, such as reading, writing, speaking words, talking, etc.
  • Getting angry at small things.
  • Get frustrated about anything.

Apart from physical and mental symptoms, we can also see many health conditions in children and Adult. 

  • Congenital heart defect
  • Dementia means forgetfulness
  • Cataract difficulties may also occur.
  • Having a Listening problem.
  • Sleep apnea problem (breathing sound while sleeping) 
  • Hypothyroidism is the problem of the low making of hormones in the thyroid gland.

Suggested read: Premature Infant: Cause, Treatment, And Health Problem In Pregnancy

Types of down syndrome

Three types of Down Syndrome

Trisomy 21

The most familiar form is trisomy 21, in which there are three copies of chromosome 21, preferably of two copies in all of his or her cells.

Translocation

Then occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “Translocated to a different chromosome rather than a separate chromosome 21.

Mosaicism

In these types, some cells have three copies of chromosome 21, but other cells have the typical two copies of chromosome 21.

It occurs due to a Postconception error in chromosome division during mitosis.

Down syndrome diagnosis

To detect Down syndrome, proper examination of the pregnant lady and fetus screening.

Screening test during the first trimester

During this, the blood of a pregnant woman is examined. If the protein level in this test is abnormal, it may indicate a child with Down syndrome. Also, to detect Down syndrome in the fetus, an ultrasound is examined between the 10th and 14th week of pregnancy.

Testing with ultrasound and quadruple marker screen can identify syndrome and other brain and spinal cord errors. This test is done within 15 and 20 weeks of pregnancy.

You must read this article: Pregnancy Tips | Pregnancy Care

Extra prenatal test

Your doctor may suggest extra tests to detect Down syndrome in your child. 

Amniocentesis: This test examines a sample of amniotic fluid. We can do this test between the 15th and 20th week of pregnancy.

Chorionic Villus Sampling: A sample of the mother’s placenta is examined in this test. We can do this test between the 10th and 13th week of pregnancy.

Percutaneous umbilical cord blood sampling:  It is done between the 18th and 22 weeks of pregnancy. This carries the risk of miscarriage, so it is recommended when other tests are inconclusive.

If the test done on the mother during pregnancy gives abnormal results,

Your doctor may examine her peripheral blood sample to confirm Down’s syndrome. Which is called the karyotype test.

I have already covered: Focused Antenatal Care Planning And Providing Care During Pregnancy

Treatment of down syndrome

There is no alternative treatment. Depending on the physical and mental conditions, they may be given appropriate support and assistance in various educational programs.

Following skills based on physical and mental development

  • Sensitive development
  • Social development
  • Development of self-protection
  • Language and knowledge development
  • Motor skill (walking, getting up, sitting, running, etc.)

Children with Down syndrome may learn more slowly than other children. That’s why School is an essential part for them.

Schools support children with Down syndrome and their families with single classrooms and special education opportunities. Education allows for valuable socialization and helps students with Down syndrome build essential life skills.

You must read this article: 7 Stages Of Child Development | What Are The 7 Stages Of Development In A Child ?

Down syndrome baby

Some or all cells in an infant with Down’s syndrome have an extra copy of a particular chromosome – chromosome 21.

Makes a total of 47 chromosomes in each cell. Having an extra chromosome can affect all parts of the body, thereby hindering the baby’s development.

As a result, infants born with Down’s syndrome have distinct physical symptoms and have some degree of learning disability.

You must read this article: When to Deliver IUGR Baby?

Down syndrome life expectancy

Due to the many physical complications associated with chromosomal abnormalities, many fetuses with trisomy 21 are not known to develop correctly and undergo miscarriage.

Congenital heart disease and respiratory infections increase the risk of infant death in the first year of life.

Given the years of challenges, patients have experienced life expectancy improvements, and underlying healing situations improve.

A person with Down syndrome has a life expectancy of 50 years and above, depending on the severity of the underlying medical problems.

To learn more, you can read: What Is Neural Tube Defect?

Which day is down syndrome awareness day?

World Down Syndrome Day is 21st March

Down syndrome icd 10

Q90.9 is an eligible ICD code used to diagnose Down syndrome. A ‘billable code’ is used to specify a medical test.

Down Syndrome Actors

Actor suffer from Down Syndrome:

  • Jamie Brewer
  • Collette Divitto
  • Jay Beatty
  • Chris Burke

Conclusion

This is a genetic disorder caused by abnormal cell division due to genetic material in addition to chromosome 21. Due to this disorder, development and intellectual development are not possible, due to which the intellect is weak, development occurs late.

Related: What is Specific Developmental Disorder?: Causes, Symptoms, Treatment

Do you have any questions about choosing the best treatment for early and long lasting recovery? Ask in the comments!

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