Down syndrome: When should one seek medical advice?

By  , Expert Content
May 30, 2012

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Down’s syndrome is common genetic disorder which causes delay in physical and mental development of the child.

If you have a baby or very young child with Down syndrome, consult a doctor if he or she shows signs of some significant medical problem such as:

  • Obstruction of intestine (such as severe pain in abdomen, vomiting, and possibly swelling of the stomach).
  • Congenital heart problems, (such as bluish discolouration of the lips and fingers, difficulty in feeding, rapid breathing, or a sudden change in eating or activity level).
  • Changes in behaviour such as signs of depression, anxiety, or other mental or behavioural health problems.
  • Symptoms of dislocated neck bones (atlantoaxial dislocation). Atlantoaxial dislocation usually occurs after an injury. Some symptoms suggestive of dislocated neck bones  include:
  1. neck pain
  2. decreases movement of neck
  3. weakness in the arms and legs
  4. difficulty in walking.
  5. loss of control of bowel or bladder.

People with Down’s syndrome (children and adults) may not be able to tell you or the doctor if they are ill or are in pain. Their behaviour may change and this is a fairly good indicator of some medical problem.

Watchful Waiting

Watchful waiting or wait-and-see approach can be adopted in a child with Down’s syndrome, if he or she has no significant problem. You should follow up regularly with a paediatrician (a doctor who specialises in diagnosis and treatment of disease in children)—he or she can help to co-ordinate early diagnosis and treatment of all the problems the child may develop. During these regular follow-ups, the doctor can decide if your child's treatment plan needs adjusting.

Who to See

Health professionals who can be consulted to diagnose and/or treat a person with Down syndrome:

  • Geneticist.
  • Genetic counsellor
  • Paediatrician, including those who specialise in development and behaviour.
  • Family medicine physician.
  • Internist.
  • Nurse practitioner.
  • Physician assistant.

Other health professionals who may be involved in the care of your child include:

  • Speech-language pathologist.
  • Physical therapist.
  • Dietician
  • Occupational therapist.

Specialist doctors who may have to be consulted if complications arise include:

  • Cardiologist.
  • Ophthalmologist.
  • ENT specialist.

The risk of having a second child with Down’s syndrome is higher if you have a child with Down syndrome. Consultation with a genetic counsellor is recommended if you are thinking about having another child.


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