Down syndrome is a genetic disorder that is caused by the presence of an extra chromosome at birth. A chromosome is the cell structure that contains genetic information. A person with Down syndrome is born with part or all of an additional copy of chromosome number 21. Down syndrome may cause certain physical characteristics, affect physical and mental development, and cause other health problems. However, your child can still lead a very active, successful, and happy life.
This condition is caused by having an extra copy of a full or partial chromosome 21. It is not known what causes this extra copy of chromosome to occur.
What increases the risk?
A child is more likely to have this condition if:
- The mother was 35 years or older when she became pregnant with the child. The risk of having a child with Down syndrome increases with age.
- The mother had previously given birth to a child with Down syndrome.
What are the signs or symptoms of Down Syndrome?
Physical signs of this condition include:
- Small head.
- Small or low-set ears.
- Short neck.
- Flat nose.
- Large tongue.
- Short, broad hands.
- Short height.
- Large space between the first and second toes.
- Muscles that seem flabby or have a low muscle tone.
- A single line (crease) across the palm of the hand (palmar crease).
Children with Down syndrome may also have:
- Developmental delays. They may be slow to crawl or walk.
- Learning disabilities.
- Poor coordination.
- Mental (psychiatric) conditions.
- Heart problems.
How is Down Syndrome diagnosed?
This condition may be diagnosed before or after a child is born.
- Before a child is born, a woman can have prenatal screening tests that check for the likelihood of Down syndrome. These tests screen for the disease, but they do not diagnose. These tests include a blood test and ultrasound. More tests will be required to confirm a diagnosis. They are:
- After a child is born, Down syndrome can be diagnosed based on physical appearance. A blood sample may also be taken to check the child's chromosomes. This test can confirm the diagnosis of Down syndrome.
How is Down Syndrome treated?
There are many possible treatments for Down syndrome. Your child's treatment will depend on his or her current symptoms and any other symptoms that develop over time. Treatment almost always requires a team of healthcare providers and support from other caregivers. Your child's treatment plan may include:
- A heart specialist (cardiologist).
- A digestive system specialist (gastroenterologist).
- Physical therapy for bone or joint problems.
- Mental health providers or special education teachers to help with any behavioural or learning problems.
- A skin specialist (dermatologist).
- A brain specialist (neurologist) if your child has neurological changes, such as seizures.
- An eye specialist (ophthalmologist) if your child has eye problems, such as cataracts.
- A hormone levels specialist (endocrinologist) if your child has thyroid problems.
- A cancer specialist (oncologist) if your child develops leukaemia.
- A sleep specialist if your child has sleeping problems.
- A child life specialist or social worker to help with support, resources, and special programs for children with Down syndrome.
Follow these instructions at home:
- Learn as much as you can about your child's condition.
- Give over-the-counter and prescription medicines only as instructed by your child's healthcare provider.
- Work closely with your child's team of healthcare providers.
- Ask your healthcare provider about doing genetic counselling.
- Put in place a good support system to help you at home. Seek out support groups and local resources for additional support. This is very important.
- Keep all follow-up visits as told by your health are provider. This is important.
Contact a healthcare provider if:
- your child has new symptoms.
- you do not have enough support to care for your child at home.
Get help right away if your child:
- has difficulty breathing while eating, playing, or during other activities as this can indicate a heart problem.
- Down syndrome is a genetic disorder that is caused by having an extra chromosome at birth.
- It is not known what causes this extra copy of chromosome to occur, but the risk of having a child with Down syndrome increases as the mother ages.
- Down syndrome may cause certain physical characteristics, affect physical and mental development, and cause other health problems. However, children with Down syndrome can still lead a very active, successful, and happy life.
- A child's treatment will depend on his or her symptoms and medical conditions. Treatment for someone with Down syndrome requires a team of healthcare providers and support from other caregivers.
This information is not intended to replace advice given to you by your health care provider. Make sure you discuss any questions you have with your healthcare provider.
de Wert G., et. al.: Fetal therapy for Down syndrome: an ethical exploration. Prenat. Diagn. 2017; 37: pp. 222-228.
Esbensen A.J., et. al.: Outcome measures for clinical trials in Down syndrome. Am. J. Intellect. Dev. Disabil. 2017; 122: pp. 247-281.
Hart S.J., et. al.: Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: strides to date. Am. J. Med. Genet. A 2017; 173: pp. 3029-3041.
Stagni F., et. al.: Timing of therapies for Down syndrome: the sooner, the better. Front. Behav. Neurosci. 2015; 9: pp. 265.
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