Downsyndrome, Risk and Its Treatment
Generally, human cells contain 22 pairs of autosome and 2 sex chromosome. Down syndrome, commonly known as Trisomy 21, is a complex genetic condition, where anindividual have a part or an extra whole chromosome 21 in all cells or some cells. It is the most common chromosomal aberration, occurring in every 1 of 691 babies born each day.The most common feature of Turner syndrome is short height, which can be significantly verified by the age of 5. It also hampers the normal development. Children with Down syndrome have facial development delays as characterised by small chin, slanted eyes. The genetic disorder also alters the social behaviour and intelligence. Most common feature is low muscle tone in the affected. Individuals with Down syndrome may have birth defects like heart and digestive problem. As there is no way of prevention of this abnormality, it becomes a somatic change in the offspring and is inherited with generations. Down syndrome is chromosomal aberration, so medicines can’t be used to treat this, as medicine will not work on chromosome. The symptoms can only be minimized with some hormonal therapy, which helps affected people to grow taller or to alter the muscle tone problem. Genetic cause: Down syndrome is associated with the autosome. Normal people have two chromosome 21. In Down syndrome, the affected ones have three copies of the chromosome 21. This trisomy affects the development in individuals. Symptoms: Symptoms of Down syndrome can vary person to person. Depending on the severity, the symptom comes. Developmental delays, disability in learning, and behavioural problems are major symptoms of this abnormality. In addition, short stature, small fingernails, extra skin on neck are some of the common features. Children affected with Down syndrome can be detected by their physical features like a flat nasal bridge or slanted eyes. Diagnosis: Down syndrome can be diagnosed in both prenatal and postnatal stage. In case of prenatal finding, features can be detected through abnormal ultra-sound result. Amniocentesis can be done also to diagnose Turner syndrome. Nowadays, genetic counselling is a common treatment for families, having a record of offspring with Down syndrome. In case of, postnatal diagnosis, chromosomal karyotyping is the best suited method to detect this abnormality. Treatments available: As Down syndrome is a chromosomal aberration, there is no cure of this. However, some therapies can alter the phenotypic state to some extent. But these are temporary. So, to get the continuous benefit, one have to continue the therapy. But there are certain things which can help the patient.
- Use of growth hormones: Doctors may use growth hormone like Genotropin which will help an affected to grow taller.Growth hormone alone or if is applied with low dose of androgen in early life, the major symptoms can be minimized.
- Pregnancy in Down syndrome: Females with Down syndrome can get pregnant normally, but if an affected female decides to get pregnant, modern reproductive technologies are advised, such as IVF.
- Oral replacement therapy: Most common feature of Down syndrome is abrupt facial features with slanted eyes, small chin, flat nose bridge. Oral replacement therapy are coming out on light nowadays as a solution. With this, facial features can be corrected.
- A person with Down syndrome can live like others, only if she is under the close watch of the physician.
- Obesity can increase the problem in children and adults. So, early measure must be taken to withdraw the risk.
- Special education or training may be offered to children with delay in intelligence development.
Children with Downs Syndrome, frequently has "Open Mouth", which is usually secondary to low muscle tone & weak senses & this may affect their Speech Development. So, particular attention to these issues - very early in the age, might help in the development of Speech.
Because these Children usually have a low muscle tone, many of these children has a delayed development. So, Physical therapy since a very Young age also helps facilitate the overall development of the Child.