Patient's Complete Guide to Down Syndrome

Overview of Down Syndrome

Humans have 23 pairs of chromosomes. Each chromosome has its own unique structure. Sometimes mutations can occur in the chromosome causing abnormalities or chromosomal disorders.

Down syndrome ( منگول/Mangul) is associated with the presence of an extra chromosome. They are usually 46 chromosomes divided into pairs. Down syndrome occurs when an extra copy of chromosome 21 is formed. This extra copy is called trisomy. Down Syndrome is also known as Trisomy 21.

The extra chromosome causes changes in the baby’s features, development of the brain and body and can also cause mental and physical challenges for the baby.

Each individual with down syndrome has a different ability. They have mild to moderate IQ and are slow speakers. Down syndrome can cause lifelong challenges including developmental delays and intellectual disability.

Signs and Symptoms of Down Syndrome

Every individual having down syndrome showcases different clinical features. Some of the most common features are as follows:

  • Small head
  • Short neck
  • Flattened face
  • Poor muscle tone
  • Eyes that slant-up
  • Small ears
  • Sticking out of the tongue
  • Palmar crease
  • Loose joints
  • Short height
  • Excessive flexibility
  • Tiny white spots in the iris
  • Short fingers and small hands and feet

 

 

 

Causes of Down Syndrome

Since it is a chromosomal disorder, the cause is linked with chromosomes and hence in genetics.

  • An extra copy of chromosome 21
  • Abnormal cell division after fertilization causing some cells to have an extra copy of chromosome 21
  • Attachment of chromosome 21 to another chromosome

Risk Factors of Down Syndrome

While experts understand what's going on inside the cell of a person with down syndrome. However, there's no good explanation as to what causes these gene abnormalities to occur. But, still, they have narrowed down some of the major risk factors which are as below:

 

  • Genetic Mutation

 

A shortage of folate has been said to be the reason behind the disruption occurring when the DNA and chromosomes separate and recombine. And if a parent has a gene mutation that messes up with the body’s ability to metabolize folate. This can increase the chance of having a child with down syndrome.

 

  • Mother’s Age of Conception

 

In the majority of the cases, the 21st chromosome comes from the mother. As maternal age increases the risk for down syndrome increases. Between a woman's 20s to menopause, the risk goes up by fifty folds.

It's not clear what changes as a woman ages. As she has her eggs from the time she's born. As she grows old, the cells do too. The age of ova (reproductive cell) could have an effect on their physiology.

Down Syndrome Complications

Down syndrome can cause many health complications including:

  • Heart defects
  • Spinal problems
  • Increased risk of leukaemia
  • Increased risk of dementia
  • Sleep apnea
  • Immune disorders
  • Gastrointestinal abnormalities
  • Seizures
  • Hearing and vision disability

 

Prevention

There's no preventive measure that can stop down syndrome. It is often advised by doctors that women should get married before the age of 35 years as it decreases the risk of a baby with down syndrome. But, again more research is needed to find concrete preventive measures.

Diagnosis

Tests can be performed before the baby is born. Prenatal screening and diagnostic tests can estimate the chances of the fetus developing down syndrome. Diagnostic tests have an accuracy rate of 100 percent. 

Screening Tests include:

  • Blood test
  • Sonogram

Diagnostic Tests include:

  • Chorionic Villus Sampling (CVS)
  • Amniocentesis

Diagnostic tests carry a one percent chance of miscarriage. CVS is performed in the first trimester of pregnancy and Amniocentesis is performed in the second trimester.

Down syndrome is identified at birth by distinct physical traits and features.

Treatment of Down Syndrome | When to Consult a Doctor

There is no medical treatment for down syndrome. Instead of treatment, an intervention is done for infants and children with down syndrome. The treatment approach depends on the needs of the individual.

Help from various doctors and consultants might be needed, including:

  • Speech pathologist
  • Physiotherapist
  • Occupational therapist
  • Audiologist
  • Ophthalmologists
  • Pediatric Specialists

Down syndrome cannot be prevented. Early intervention is necessary to help your child cope in the environment. Encouraging them and supporting them and making them participate in everyday activities is very important.

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