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March 18, Sunday 2018 5:37 AM       

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       DOWN SYNDROME-What Families should know?
         Posted on :17:37:05 Mar 13, 2018
       Last edited on:17:37:05 Mar 13, 2018
         Tags: down syndrome, families

1. What is Down syndrome?

Down Syndrome is a condition where the affected person will have an extra chromosome  21 and thus a total of 47 chromosomes. (All normal human beings have 46 chromosomes). This extra chromosome makes the affected person unique, having many of the possible health, learning and related differences that can occur with this condition and demanding the need for regular follow up.

2. Can we diagnose the condition before a baby is born?

 Mostly, there are tests that can be done during early pregnancy which will guide in the diagnosis. Two types of tests are available, Screening tests and Diagnostic tests. Screening tests, as the name implies are tests which are not confirmatory, if the screening test is positive, diagnostic tests should be offered to the family. Screening tests can be done in the early period of pregnancy i.e., within the first 12 weeks (first trimester screening) or in the second half of pregnancy between 15 and 20 weeks (second trimester screening). First trimester screening includes blood tests and ultrasound and is better than second trimester screening in detecting women at risk, identifying approximately 80 % of affected pregnancies. If the screening test is positive, confirmatory tests like amniocentesis should be offered to the family (where baby’s cells are collected from amniotic fluid by ultrasound guided needle aspiration and chromosome analysis is done). There is a very minimal risk of foetal loss associated with this procedure.

3. Can Down syndrome recur?

 In less than 5% of cases the genetic change that happens in Down syndrome can be inherited from parents, in which case there are chances of recurrences. This can be identified by doing chromosomal analysis of both parents. Consultation with a genetic specialist can be helpful in getting the proper guidance.

4. How can the diagnosis be made after birth?
 The affected baby will have some special features which suggest the possibility of Down syndrome. The disease can be confirmed by genetic tests like FISH (Fluorescent in situ hybridization) and Karyotyping.

5. What is the care plan in the initial days after birth?
 In addition to routine newborn care which includes establishment of  breast feeding, maintenance of warmth, prevention of infections  and routine  immunizations  a Down syndrome baby needs  some extra  screening tests to rule out any associated medical problems . This includes screening for heart defects which can sometimes be serious requiring urgent diagnosis and treatment, intestinal defects which may require emergency surgery and screening for other concerns like eye and ear problems, thyroid hormone deficiency, hip dislocation etc. Very rarely baby can have abnormal blood counts, hence blood counts should also be checked. Affected babies may have feeding concerns and may need extra help in feeding.

6. What is the plan for follow up?
 A Down syndrome baby needs regular follow up with a co-ordinated medical team including  paediatrician, paediatric cardiologist if  baby is diagnosed with a cardiac condition, ENT specialist for the risk for hearing defects, middle ear infections and airway problems, ophthalmologist  as there can be associated refractory problems and cataract,  paediatric neurologist, development specialist, physiotherapist etc. Evaluation of eye, hearing and thyroid should be done at 3-6 months intervals before 1 year and at 6 months interval in second year and annually till adolescence. These children are usually heavier than their peers, growth should be regularly monitored.  

 7. What are the development concerns?
Down syndrome is a diverse condition; affected individuals can have varying range of abilities. Some will have only minor developmental concerns; some will have severe concerns and majority fall somewhere in between. Babies will attain all developmental milestones, but at a slower pace. As the muscles are more floppy motor milestones are usually delayed. They may have learning problems and speech and language concerns and hence they need early interventions in the form of speech therapy, physiotherapy and occupational therapy .Children with Down syndrome are thought to be visual learners and learning is better through visual aids. Most of them will be able to join regular schools later.

8. What other precautions are needed?
Because of laxity of ligaments of spine at the neck region (risk of atlanto axial joint dislocation) before participating in any competitive sports they have to get medical clearance. Due to the same concern too much extension of neck should be avoided prior to anaesthesia or any ENT procedure.

For any sleep disturbances, snoring, mouth breathing etc ENT doctor should be consulted. There is also an increased risk of respiratory infections compared to their peers

 9. Do they need extra immunizations?
As they are more prone for respiratory infections they need pneumococcal vaccine and influenza vaccines apart from all routine vaccinations.

10. How do they manage during adult life?
Most of them are mobile, active and are able to manage their own basic self care needs. They can read and write. Appropriate early interventions and medical supportive care can make them able to live independently or semi-independently.  They do not need sympathy, what they need is acceptance and encouragement by the society.

11. Advice for parents
Mostly, the birth of a baby with Down syndrome will bring a lot of stress and confusion in the family. This is quite natural and it may take some time to cope up with the situation. But knowing the facts about Down syndrome and that with your support and care your baby can make a steady progress, shall definitely relieve stress and bring enjoyment and a positive attitude towards life.

Dr Jyothi Prabhakar
Consultant Neonatologist
KIMS Hospital

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