Downs syndrome

Dr. John Langdon Down was the first one to describe Down’s syndrome. It is a genetic disorder that leads to permanent mental retardation, developmental delays and learning disabilities in children. It can be moderate or severe in nature. It is estimated that one in every 700 to 800 infants is affected by Down’s syndrome.


A child with Down’s syndrome can be identified generally by the common features that are present in most of the children with Down’s syndrome. The Down’s syndrome symptoms are as follows. They are:

  • Flattened facial features with a small head and a protruding tongue

  • Eyes slant upwards and ears are unusually shaped

  • Hands are short and broad with a single crease line in the palm

Fingers are shorter than normal

  • Muscle tone is poor

  • Excessive flexibility

  • Mental retardation

  • Growth is slower than in normal children

Health problems and complications

The Down’s syndrome child is more likely to develop infections like pneumonia as their immune system is weak. The other problems that can develop are;

  • Obesity

  • Sleep apnea

  • Thyroid problems

  • Hearing loss

  • Poor vision

  • Skeletal problems

  • Gastrointestinal blockage

  • Dementia

  • Mental retardation

Coping and support

It is natural for parents to be filled with grief and fear. It is important for such parents to talk with their family physician and join a support group where they can meet similar parents who can give them advice and support.

Beating the odds

The first person in the world with Down’s syndrome who swam across the English Channel was Karren Gaffney at 23 years of age. Not only did she have trisomy 21 but also she had a hip dislocation and an atrophied left leg. Her limitations did not limit her from achieving her goals. She successfully swam across 9 miles Lake Tahoe in 6 hours and 15 minutes. Having completed her Associate Science Degree and Teacher’s Aid certificate, she is now the founder and director of The Karren Gaffney foundation that works for the inclusion of Down’s syndrome children in schools, communities, workplaces and families.

Down’s syndrome diagnosis are as follows:

Screening is done from the 11th week of pregnancy to 13th week of pregnancy which consists of nuchal screening test and blood tests.

In a test called nuchal translucency screening test, a region in the back of the baby’s neck is checked with ultrasound. Fluid more than normal collects in this region if there are abnormalities in the second trimester of pregnancy.

A procedure known as amniocentesis may be done in which a sample of amniotic fluid is taken out with the help of a needle inserted into the uterus of the mother. This fluid gives an idea about the chromosomes of the fetus.

Between 9th to 14th weeks of pregnancy, the chorionic villus sampling may be done. During this procedure, cells from mother’s placenta are analyzed to detect any abnormalities in fetal chromosomes.

In a procedure called as percutaneous umbilical blood sampling, blood is drawn from the vein in the umbilical cord and tested for any defects in the chromosomes.

Surgery may be necessary for Down syndrome treatment.

For babies who have intestinal blockages and swallowing problem, surgery is done after which the baby may not have any further problem.

For eye problems, like cloudy eyes or crossed eyes, corrective surgery may be required. For teething delays, the pediatric dentist has to be consulted.

Some Down’s syndrome children may develop cancer like Leukemia.

The Down’s syndrome children are also more prone to infections of the lung which causes breathing problem.

Digestion problems in these children lead to constipation.

There will be delay in growth, development, speech and walking skills.

Regular health checkups are necessary to diagnose and treat the various health problems effectively.

The Down’s syndrome baby may have difficulty in breastfeeding, but it is not impossible. The mother has to consult the doctor, therapist, nurse or other mothers who have breast fed Down’s syndrome children who can give advice.

For Down’s syndrome children, every state has special intervention programs in which the child is taught how to improve his or her motor skills, social skills, language, and self help skills by special therapists.

The team that helps in special care consists of pediatric cardiologist( deals with heart defects), pediatric endocrinologist( deals with endocrine gland problems like thyroid problems), pediatric gastroenterologist (deals with stomach and intestinal problems), developmental pediatrician( checks into developmental delays), physical therapist(helps in improving muscle coordination), audiologist( deals with hearing problems), occupational therapist ((deals with developing social skills)and speech pathologist( helps in improving speech).With therapy, Down’s children become adults who working and live independent lives.