Down doesn’t mean out

Down’s Syndrome is one of the most common genetic disorders. Though the syndrome has no particular treatment, care and acceptance can go a long way

A child’s growing years, are the most important. Every child has a dream and hopes to succeed in life. But what about a child who for no fault of his/her is subjected to a lifetime of challenges, often in the form of genetic disorders? One of the most common genetic disorders is Down’s Syndrome. “Down’s syndrome is the most common genetic disorder. The disorder may occur because of an extra chromosome,” says Dr Sudhir Kumar, senior consultant neurologist, Apollo Hospital.

Explains Dr Amitava Ray, consultant neurosurgeon, “We usually have two copies of the chromosome 21 in our body, but children with Down’s tend to have three copies.” Incidentally, Chromosome 21 is the smallest chromosome of the 23 chromosomes that are present in our body.

Causes

Like many genetic disorders the exact cause is not very clear. Dr Amitava says that it is more prevalent in children born of elderly parents. Dr Sudhir says, “It may occur because of family history but the most common cause is due to a mutation at the time of conception itself.

Symptom

Children with Down’s may have certain physical features that can help people identify the syndrome. Dr Sudhir says, “Children with Down’s Syndrome may have Mongoloid features (features like those belonging to Mongolian regions), have an increased space between the eyes, an epicanthic skin fold (extra skin fold on the eyelids), small chin, a flat nasal bridge, may have only a single crease on their palms, a protruding tongue, shorter neck, white spots in the iris, little space between the toes and a reduction in muscle tone.” He mentions that children with Down’s don’t necessarily have all these symptoms. Sometimes a child may have just one symptom in prominence.

Apart from the physical appearance, children with Down’s Syndrome may also suffer from other issues. Dr Amitava says that children with Down’s may have a low intellectual capacity. Dr Sudhir says, “Because of their lower IQ they may not be able to go to regular schools, may have trouble emoting and speech may also be delayed.” He adds that children suffering from Down’s Syndrome may also suffer from Alzheimer’s at a younger age, may suffer from heart problems mainly pertaining to the valves such as CHD, VSD and blood cancer.

Diagnosis

A paediatrician or neurologist can identify a child suffering from Down’s Syndrome based on these physical symptoms itself. “The syndrome can also be diagnosed in the foetal stage itself through close monitoring, ultrasound tests and aminosynthesis which helps diagnose the syndrome,” says Dr Amitava.

Dr Sudhir mentions that many cases go undiagnosed especially when it comes to home births. In most major hospitals paediatricians will see a child after he is born and will be able to diagnose the ailment. He mentions that the ailment is not very common and effects five in 10,000 children.

Treatment

“There can be no particular treatment, children with Down’s Syndrome need support and counselling. No particular medicines can be given. The child may be treated based on their associated ailments,” says Dr Sudhir.“People with a mild form of the ailment can lead a normal life and can get employment and are friendly though they may not do well at school,” says Dr Amitava.

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Category: Health, Health News