Down, But Not Out!

March 21 st is World Down Syndrome Day. To mark the occasion, we tell you what Down Syndrome is all about, its causes, effects, treatment and more…

- Dr Seema Thakur MS

Down Syndrome, also known as trisomy 21, is a common chromosome abnormality that occurs amongst new-borns when they have a full or partial extra copy of chromosome 21 (the nucleus of each cell is typically supposed to have 23 pairs of chromosomes). This happens because of a process known as ‘nondisjunction’, i.e. when genetic materials fail to separate during the formation of the nuclei. Usually, this extra chromosome comes from the mother. The addition of this genetic material changes the development pattern and manifests itself thorough various characteristics which are associated with Down Syndrome. One of the leading causes of mental retardation, the incidence of Down Syndrome, worldwide is one in every 1,000 people.

PHYSICAL CHARACTERISTICS

Children, who have been diagnosed with Down Syndrome, typically have dysmorphic facial features which include up slanting eyes (palpebral fissures and epicanthic folds), flat facial profile, flat nasal bridge, irregularly shaped (folded or dysplastic) ears which are usually low-set, a relatively large tongue in comparison to the mouth and decreased muscle tone.

They also have the ability to extend the joints beyond the usual capacity and have short broad hands and sandal gap toes (a large spacing between the big toe and its neighbouring toe).

ASSOCIATED PROBLEMS

About 40-50% of children afflicted with Down Syndrome have associated malformation in other organs like the heart (congenital heart disease) or the gastrointestinal tract (intestinal abnormalities).

They are also more prone to developing Alzheimer’s, leukaemia, seizure disorders, sleep apnea and skin disorders.

60-80% have hearing defects.

They tend to have several eye related problems and develop obesity in their adolescence and early childhood.