Down syndrome is a genetic disorder that impacts physical growth, intellectual skills, and health. It is diagnosed in nearly 1 in 700 U.S. births, which makes it the most common of the chromosomal disorders. What is Down syndrome and how does it play out for individuals and their families?

Let’s quickly cover everything you want to know — from causes and symptoms of Down syndrome to diagnosis, treatment, and living with the condition.

What Is Down Syndrome?

This Syndrome, also known as trisomy 21 is a genetic issue in which a person has an extra copy of chromosome 21. We see that usually human beings have 46 chromosomes which come in 23 pairs.

In the case of this syndrome there are 47 chromosomes which is a result of the extra chromosome 21. That extra genetic material changes the course of development which in turn presents the features related to the condition.

Types of Down Syndrome

There are 3 forms of Down Syndrome which present with different features:

  • Trisomy 21 (95% of cases): In the main form, what we see is that each cell in the body has 3 sets of chromosome 21.
  • Trans__cpLocation Down Syndrome (3-4%): Part at birth of chromosome 21 to another chromosome happens at or before conception.
  • Mosaic Down Syndrome (1-2%): Some cells have an extra chromosome in them, in others they do not. This type may present with mild symptoms.

What Causes Down Syndrome?

The syndrome is caused by a genetic mutation at the time of cell division. The extra chromosome 21 may be the result of:

  • Nondisjunction: A chromosome separation error that occurs when pairs of chromosomes fail to divide properly.
  • Trans__cpLocation: A break in chromosome 21 which then attaches to another.
  • Mosaicism: A variety of cells that have different chromosome numbers.

Factors that may increase your risk of having a baby with this Syndrome:

  • Maternal age: Women over 35 also have a greater chance of having a child with Down Syndrome which is also mostly born to younger mothers.
  • Family history: A parent which has a trans__cpLocation gene may pass it along.
  • Previous child with this Syndrome: In some what of further pregnancies.

Common Symptoms and Characteristics

Individuals with Down Syndrome present the same set of health issues and growth patterns which may include certain physical features but it is also true that each person is a unique case.

Physical Features

  • Flattened facial profile
  • Almond-shaped eyes that slant upward
  • Small head and ears
  • Short neck
  • Poor muscle tone (hypotonia)
  • Single crease across the palm

Developmental and Cognitive Delays

  • Mild to moderate intellectual disability
  • Speech and language delays
  • Learning difficulties
  • Delayed motor skills

Medical Conditions Associated with this Syndrome

In around 50% of cases that which of the congenital heart defects

  • Hearing and vision problems
  • Thyroid disorders
  • Gastrointestinal issues
  • Increased risk of infections
  • Sleep apnea
  • Increased chance of Alzheimer’s disease as we age.

How Is Down Syndrome Diagnosed?

Prenatal Testing

Doctors may put forth the use of prenatal screenings and diagnostic tests:

At Birth

Physical symptoms and a karyotype study (which looks at chromosomes) confirm the diagnosis.

Is there a treatment for Down Syndrome?

No cure exists for this Syndrome yet we see that early intervention, education, and supportive therapies play a large role in quality of life.

Treatment Options

  • Early intervention programs: At birth we also begin including speech, occupational and physical therapy.
  • Special education: Tailored education plans for each child.
  • Medical care: Routine checkups and treatment of related conditions (eg, heart defects, thyroid issues).
  • Behavioral therapy: Improves social and emotional skills.
  • Supportive community programs: Enable persons with this Syndrome to live full lives.

Life Expectancy and Quality of Life

Thanks to medical progress we have seen a great increase in life expectancy for people with Down Syndrome. Many now live into their 60s or even 70s.

Quality of Life : With appropriate support, individuals with Down Syndrome can:

  • Attend school
  • Work and earn a living
  • Have relationships and families
  • Participate in sports and hobbies
  • Participate fully in your community.

Families report that they find raising a child with this Syndrome very joyful and at the same time very transformative.

Myths and Misconceptions About Down Syndrome

There is a great deal of misinformation out there regarding Down Syndrome.

Let’s go over a few:

Myth: People which have this Syndrome are always happy.

Reality: They live out a full spectrum of feelings as do most.

Myth: They can not live on their own.

Reality: With support many achieve a great deal of independence, we see them in the workforce and watching them thrive.

Myth: It is rare.

Reality: It is the world’s most common chromosomal disorder.

Myth: Only mothers of advanced age have children with Down Syndrome.

Reality: Most of the time we see reports of this Syndrome in women under 35 which is due to the high rate of births in that age group.

How do you support someone with Down Syndrome?

  • Support is of many kinds, as a parent, friend, teacher, or member of a community.
  • Practice patience and understanding.
  • Promote diversity at school, work, and in society.
  • Learn more about the issue and break up with negative stereotypes.

Support groups for issues related to this Syndrome which include:

  • National Down Syndrome Society (NDSS)
  • Global Down Syndrome Foundation
  • Down Syndrome International
  • Raising Awareness and Celebrating Abilities
  • World Down Syndrome Day which takes place every March 21st is a global awareness and advocacy event. The date 3/21 represents the trisomy of the 21st chromosome.

The goal is to:

  • Promote rights and inclusion
  • Honor the achievements and gifts of people with this Syndrome.
  • Educate the public and challenge stigma

Accepting All and Supporting Each Individual’s Journey

Down Syndrome presents challenges but also brings love, joy, and resilience. We see that individuals with Down Syndrome achieve great things when given the right support and chance.

Supporting, accepting, and educating is what it takes. We value every life and see in each person the ability to flourish.

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