Down syndrome is a human genetic condition that takes place when a precise chromosome (21) has a duplicate. Mutation can either be silent, beneficial, or harmful. In this case, the extra chromosome affects an individual’s cognitive ability, physical features, and development in general. Besides, it increases the chances of health problems.
Causes of Down’s syndrome
Each cell contains forty-six chromosomes that have genes grouped around them. Out of the forty-six chromosomes, half are inherited from the mother and the other half from the father. Down syndrome takes place when an individual possesses a partial or an extra copy of chromosome 21.
People with Down syndrome have issues with intellectual development, physical features, and physical problems. Examples of physical characteristics of an individual suffering from Down syndrome include:
A short neck, small ears, eyes that are almond in shape, face that is flat with a nose bridge, hands and feet are likely to be small, the tongue is often sticking out, both children and adults are short in stature, joints are loose, and the iris appears to have tiny white spots.
Individuals with Down syndrome have developmental delays such that they reach developmental milestones later after their age mates. The children have cognition issues such that they can be termed as intellectually disable. Such children take time before they learn to talk; thus, such children require speech therapy that helps them able to express themselves. Other skills that might be delayed include fine motor skills. Averagely, children with down syndrome are likely to sit at 11 months, crawl at seventeen months, and walk at twenty-six months. Individuals who have Down’s syndrome have attention issues, they are impulsive, and they continuously make poor judgments.
Individuals with Down’s syndrome are likely to suffer from various health conditions such as congenital heart defects, epilepsy, leukemia, hearing issues, respiratory issues, thyroid issues, and Alzheimer’s. Despite the conditions, other issues that are low key include the hardening of arteries and some cancers.
Down syndrome can be detected before birth, using several tests. Examples of the tests include Nuchal translucency testing, triple screen or quadruple screen, integrated screen, cell-free DNA, and genetic ultrasound. The tests are performed between 11 weeks to 20 weeks. Noteworthy is that one in seven hundred pregnancies, Down syndrome, is likely to take place for mothers above the age of 35 years. For women below 30 years of age, 1 Down syndrome case is likely to take place in 1000 pregnancies. After the age of 40, the cases ascent to 12 in 1000.
Treatment
Down syndrome lacks a precise treatment procedure. Considering the condition is associated with other health complications, people receive care for such complications. Early intervention is essential as it helps individuals to maximize their potential. Down syndrome requires the help of special educators, speech therapists, physicians, occupational therapists, social workers, and physical therapists to maximize the potential of an individual.
In 2009, a drug that boosts norepinephrine, a chemical messenger in the brain, was developed—the drug aimed at alleviating cognitive issues in down syndrome patients. The medicine worked excellently in mice. Currently, there is no news on whether it has been tested on patients with Down syndrome and its effects. Current pursuits are taken by the National Institute of Health, where they developed a new initiate in 2018. Through the project, NIH aims to evaluate the health and quality life of persons with Down syndrome to yield scientific discoveries that improve their cognitive development, health, well-being, and resilience to associated complications.