Down Syndrome: Symptoms, Risk Factors and Complications

 Down Syndrome: Symptoms, Risk Factors and Complications

A second whole or partial copy of chromosome 21 is produced due to faulty cell division, resulting in the genetic condition known as Down syndrome. This extra genetic material brings on down syndrome’s physical characteristics and developmental abnormalities.

People who have down syndrome may experience different intellectual disabilities and developmental delays. It is the most common genetic chromosomal abnormality and the cause of the learning difficulties that children experience. In addition, other medical conditions, like cardiac and digestive issues, are frequently the result of it.

The rate of life for youngsters and grown-ups with Down syndrome can improve, and early interventions can help them lead fulfilling lives.

Symptoms of Down Syndrome

Individuals with Down syndrome might suffer from mild, intermediate, or intense philosophical and developmental issues. While some people have substantial health issues, including severe heart defects, others generally have good health.

Down syndrome youngsters and grown-ups have unique facial features. Although not all individuals with Down syndrome share the same features, some of the more typical ones are as follows:

  • Flattened face
  • Little head and short neck
  • Erupting tongue
  • Eyelids that are inclined upward (palpebral fissures)
  • Tiny or unusually shaped ears
  • Muscle tone issues
  • Hands that are small and broad with just one wrinkle in the palm
  • Relatively short fingers and little hands and feet
  • Too much flexibility
  • Brushfield’s spots are small white dots on the iris, the coloured portion of the eye.
  • Brief height
  • While babies with Down syndrome may be of average size, they frequently grow slowly and remain smaller than kids their age.

Causes of Down Syndrome 

Human cells typically contain 23 pairs of chromosomes. One chromosome from your mother and one from your father make up each pair of chromosomes. Faulty cell division linked to chromosome 21 results in Down syndrome. These mistakes in cell division development in a new complete or incomplete copy of chromosome 21. This extra genetic material brings on down syndrome’s distinctive characteristics and developmental problems. Any one of the following variations of three types can cause down syndrome:

Trisomy 21

Trisomy 21 accounts for about 95% of cases of Down syndrome. It happens due to irregular cell division that occurs during the growth of sperm or egg cells. 

Mosaic Down syndrome

Few cells in a person with this unique form of Down syndrome carry an extra copy of chromosome 21. Aberrant cell division produces a mosaic of healthy and unhealthy cells after conception. 

Translocation Down Syndrome

Chromosome 21 can also combine with another chromosome before or during birth, producing this syndrome. These kids have the typical two copies of chromosome 21, but they also have extra genetic material from chromosome 21 linked to another chromosome. Down syndrome is not known to be brought on by environmental or behavioral causes.

Down Syndrome Risk Factors

A child with Down syndrome is likelier to be born to confident parents. Risk components include:

Raising the maternal age

Age raises a mother’s risk of having a child with Down syndrome because older eggs are more likely to undergo an erroneous chromosomal division. As a result, after the age of 35, a woman is more likely to encounter a pregnancy with Down syndrome. However, because younger women have more children, more Down syndrome children are born to moms under the age of 35. 

If you are a Down syndrome genetic translocation carrier

The genetic rearrangement that results in Down syndrome can be passed down to future generations by both sexes. 

If you have one child that has Down syndrome:

Compared to parents who already have one, parents of translocated children are less likely to give birth to a kid with Down syndrome. Parents can estimate their chances of having more children with Down syndrome with the help of a genetic counsellor. 

Complications related to Down Syndrome

Many challenges can be faced by people with Down syndrome, some of which become more obvious as they get older. The following factors may contribute to these problems:

Heart problems

Congenital heart abnormalities afflict roughly half of all newborns with Down syndrome. Therefore, a professional uses a specific ultrasound machine to examine the hearts of all newborns with Down syndrome.

Problems in the digestive system

Some children with Down syndrome develop gastrointestinal abnormalities such as gastrointestinal, oesophagal, anus, and tracheal abnormalities. A higher risk of having digestive issues like celiac disease, heartburn, or gastrointestinal blockage may also exist. 

Immunity problems

People with this syndrome are more susceptible to developing autoimmune illnesses, some malignancies, and infectious diseases, including pneumonia, because of immune system abnormalities.

Apneic sleep

Children and adults with Down syndrome are more likely to develop obstructive sleep apnea due to changes in their skeletal and soft tissues. Their airways become obstructed as a result. 


Obesity is more common in people with Down syndrome than in general. 

Spinal issues

Some Down syndrome sufferers may have their top two cervical vertebrae misplaced. Due to their condition, they are at a high risk of suffering serious spinal cord damage through neck extension. 


Leukaemia risk is higher in youthful kids with Down syndrome. 


Around the age of 50, people with Down syndrome may begin to exhibit initial dementia signs and symptoms. After that, Alzheimer’s disease is more likely to manifest in people with Down syndrome.

Other issues

Other illnesses include endocrine issues, seizure disorders, dental issues, ear infections, and issues with vision and hearing may also be connected to down syndrome.

Getting regular medical attention and resolving problems as they arise can support persons with Down syndrome to lead healthy lives. 

Diagnosis of Down Syndrome

Screening and diagnostic tests are the two main categories of testing available to identify Down syndrome during pregnancy. A screening test can inform the expectant mother and her healthcare practitioner of the likelihood of Down syndrome in the baby. Although screening tests can not offer a definitive diagnosis, they are safer for the woman and the unborn child. Diagnostic tests can usually tell whether a baby will have Down syndrome or not, but they can also put the mother and growing infant in greater danger. Nobody can foresee the full effects of Down syndrome on a baby; neither screening nor diagnostic techniques can do so.

Treatments for Down Syndrome

Down syndrome is a chronic illness. Early intervention services can frequently assist babies and young children with Down syndrome in developing their physical and intellectual capacities. Most of these programs are toward promoting the full development of kids with Down syndrome. These remedies, which typically come under earlier intervention schedules in every stage, include speech, occupational, and physical therapy. Even though many of them integrate into ordinary courses, children with Down syndrome may require additional support or attention in the classroom.

What role do parents play in down syndrome?

If you discover that your child has Down syndrome, you might initially experience grief, guilt, and apprehension. You might find it helpful to deal with your worries and figure out how to look into the future by speaking with other parents of children with Down syndrome. Many parents discover that gaining as much knowledge about the condition as they can reduce their anxieties.

They should provide early intervention treatments to children with Down syndrome as soon as possible. Early childhood educators can work with your child to stimulate and boost growth, as can physical therapy, occupational therapy, speech/feeding therapy, and other therapies.

From birth to age three, states offer early intervention programs to children with disabilities. To identify resources in your region, speak with a healthcare professional such as a doctor, nurse, developmental paediatrician, or social worker.

The Individuals with Disabilities Education Act guarantees educational services to children with Down syndrome when they age three. Local school districts require IDEA to offer each child an individualized education program and “a free, suitable education in the least restrictive environment.”

Choosing your child’s school might be challenging. Some Down syndrome children’s requirements are addressed in a customized program. But many children with Down syndrome attend regular schools and participate in the same extracurricular activities as normal children their age. When appropriate, including a child with Down syndrome in a typical classroom (also known as inclusion), is beneficial for both the child and the other students.


Each year, thousands of people are affected by Down syndrome, one of the most prevalent genetic diseases in the world. The early stages of pregnancy can identify trisomy 21 symptoms thanks to modern medical technology. However, many children can only be diagnosed with Down syndrome after delivery since many women choose out of utilizing particular diagnostic procedures due to high risks. Children typically experience physical problems as well as intellectual difficulties as a result. Authorities take the necessary steps to put specific interventions into place to improve the quality of their lives. Each state in the nation offers, for instance, educational, behavioural, and physiological therapy. Combining these treatments is anticipated to aid people with this hereditary disease in leading fulfilling lives.


How likely is it to have a child with Down syndrome?

Down syndrome can occur regardless of age, ethnicity, or financial status. As the mother’s age at the time of pregnancy rises, the risk of Down syndrome increases.

Additionally, the risk rises if:

  • One parent carries Down syndrome genetic translocation.
  • One of the parent’s children has Down syndrome already.
  • The most effective way for parents to evaluate risk factors is to consult a genetic counsellor. 

How are infants with Down syndrome recognized?

Most of the time, the identification of Down syndrome is at or shortly after birth. However, a diagnosis cannot be based solely on physical features. Chromosome testing will validate worries and offer a specific diagnosis.

What is the lifespan of a child with Down syndrome?

A child with Down syndrome now has a much longer average life expectancy. A child’s lifespan was nine years on average in the 1920s. Today, a person can expect to live for about 60 years on average.

Also Read: World Down Syndrome Day: History and Facts

Priya Singh

Priya writes about women's health and yoga & meditation and loves exploring different places and clicking on natural landscapes when she is not working. She has been in the industry for over five years and has worked with different insurance companies and health startups.

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