KOCHI: 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 need for regular follow up.
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 within the first 12 weeks or in the second half of pregnancy between 15 and 20 weeks. 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.
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 a chromosomal analysis of both parents.
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.
What is care plan in the initial days after birth?
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 and deficiency A Down syndrome baby needs regular follow up with a coordinated medical team including a paediatrician, paediatric cardiologist if the baby is diagnosed with a cardiac condition, ENT specialist for the risk of hearing defects, middle ear infections and airway problems, ophthalmologist as there can be associated refractory problems and cataract, paediatric neurologist, development specialist and physiotherapist etc.
What are the development concerns?
Down syndrome is a diverse condition, affected individuals can have a varying range of abilities. Some will have only minor developmental concerns and some will have severe concerns and majority fall somewhere in between. Babies will attain all developmental milestones, but at a slower pace. 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.
What are other precautions needed?
Because of laxity of ligaments of the 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 the neck should be avoided prior to anaesthesia or any ENT procedure.
Do they need extra immunizations?
As they are more prone to respiratory infections they need pneumococcal vaccine and influenza vaccines apart from all routine vaccinations.
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.
Advice for parents
Mostly, the birth of a baby with Down syndrome will bring a lot of stress and confusion in the family. But knowing the facts about Down syndrome and with your support and care your baby can make a steady progress, shall definitely relieve stress and bring a positive attitude towards life.