Help children with Down syndrome
Down syndrome is the most common genetic (chromosomal) disorder that causes delay in physical and intellectual development of a child. It is a condition in which a patient has extra one chromosome in 21st chromosome. This extra chromosome or added genetic material causes delay in development of a child by changing the finely tuned balance of the body that leads to retardation. This mix up of cells causes problems such as mental retardation and slow physical development. It is not known why this occurs. However, it is known that the error occurs at conception and is not related to anything the mother did during pregnancy. The disorder can easily be identified at birth or shortly after birth. A child with Down syndrome may be born with decreased or low muscle tone at birth, separated joints between the bones of the skull, asymmetrical or odd-shaped skull, round head with flat area at the back of the head, small skull, upward slanting eyes, unusual for ethnic group, small mouth with protruding or enlarged tongue, small ears, broad short hands, single crease on the palm, retarded growth and development, delayed mental and social skills, delays in speech and self-care skills like feeding, dressing and toilet teaching in toddlers, problems in sucking and feeding. Down syndrome can be identified at birth by observing the typical physical abnormalities associated with the disorder. However, these physical abnormalities need to be confirmed through chromosome tests called the Karyotype that provides a visual display of the chromosomes. Down syndrome can also be detected before birth through tests. For this, pre-natal diagnosis of the child is imperative. There are 2 types of procedures for diagnosis of pregnant women — screening tests and diagnostic tests. Screening tests involve the estimation of risk of the baby having Down syndrome. These tests are usually done between 15 and 20 weeks of pregnancy. Screening tests do not accurately confirm the diagnosis of Down syndrome. In fact, false positives and false negatives frequently occur. Three diagnostic tests are currently available right now. Amniocentesis — performed between 12 and 20 weeks gestation; Chorionic Villus Sampling (CVS) — conducted between 8 and 12 weeks; and Percutaneous Umbilical Blood Sampling (PUBS) — performed after 20 weeks. Unfortunately, there is no specific treatment or cure for Down syndrome. Early intervention can help in rectifying the physical limitation and develop the growth process of people suffering from this disorder through therapies and special care. Children should go to special education schools so that their needs and requirements for specialised programmes are met. More importantly as these children grow, they should be encouraged to participate in secondary and college education as others. With proper medical care, most of the children suffering from Down syndrome can be helped in leading normal and healthy lives. The article is compiled by Dr Tariqul Islam.
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