Down Syndrome – Symptoms, Causes, Diagnosis, and Treatments

Down Syndrome – Symptoms, Causes, Diagnosis, and Treatments


Down syndrome is an ailment comprised of mental and physical traits, that derive its origin from a certain Down syndrome patients gene problem which initiates even before birth. Children diagnosed with Down syndrome usually show certain features that include short neck and flat face. Apart from physically evident traits, these children tend to have a diminished intellect which can vary from one person to another. However, most cases of Down syndrome involve mild or moderate diminishing of intellect. Being a lifelong ailment, children who have Down syndrome need support and care to be happy, healthy and productive.

Symptoms – Children with Down syndrome show the following symptoms:

  • Facial features that involve small ears, flat face, slanting eyes along with small mouth.
  • Short arms, legs, and neck.
  • Loose joints with a low tone of muscles. However, the muscle tone might improve with time.
  • The intelligence that is below average.
  • Breathing issues along with heart, ear and intestine problems that can be treated in most cases.

Causes of Down syndrome –

Children affected by Down syndrome have an extra chromosome as compared to the 46 found in any normal child. A total of 47 chromosomes are found in an affected child that modifies the way their body and brain develop. The exact cause of Down syndrome affecting children is yet to be determined but jotted below are some causes that increase the risk factor.

  • Increased risk for women who get pregnant at an older age which is more than 35.
  • Having a sibling with Down syndrome.
  • Birth of a previous baby with the same syndrome.
  • Genetic counseling can help couples who are planning a baby when the first one had Down syndrome.

Diagnosis –

  • Screening Tests:
    Tests like ultrasound along with blood test at the 1st or 2nd trimester can help in determining whether your fetus is at risk.
  • Diagnostic Tests:
    Amniocentesis or Chorionic Villus Sampling can help in determining if your baby has Down syndrome.

Treatments –

A child with Down syndrome cannot be treated permanently, but he/she can lead a healthy lifestyle with proper care and medical facilities that ensure any issues arising are taken care at the right time. Identification and management at the right moment is a great treatment option for a child who has Down syndrome. Apart from these much required treatments, a child with Down syndrome can benefit from the following treatment options which include:

  • Educational Therapy and Early Intervention:
    This therapy involves a range of programs that are specialized to cater speech therapy, special education, occupational therapy, social work, and physical therapy.
  • Treatment Therapies:
    Children suffering from Down syndrome patients often find it difficult to talk or perform tasks that require physical engagement along with proper social behavior. The treatment therapies provided for the same involve intervention along with proper dispersal of the required knowledge to help the affected child gel well with the daily functional requirements.
  • Supplements and Drugs:
    Down syndrome can be controlled via consumption of supplements made of amino acid that helps the brain function better. However, the clinical test for same showed certain negative effects which led to the use of a better psychoactive drug that helps with better living conditions. Antioxidants are also used for Down syndrome patients for dementia. The same is safe but isn’t as effective.
  • Assistive Devices:
    Use of assistive devices updated with the latest technology can help assist a Down syndrome patient deal with the daily chores in an efficient manner. Use of amplification devices meant for better hearing or bands to help with proper movement or something as simple as a specially constructed pencil can help ease the lifestyle of a Down syndrome patient. Along with that patients use computers that come with large letters in the keyboard for better visibility or computers with touch screen for better performance.

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