Down syndrome is a term that describes a genetic disorder that results when a child has an extra copy of chromosome 21.
Chromosomes found in human cells contain DNA that controls some characteristics. For example, it will determine if an individual will have straight or curly hair, light or dark skin. Down syndrome is also referred to as trisomy 21. It is associated with a decrease in physical and mental development.
The disabilities resulting from down syndrome are lifelong, and they may shorten an individual's life expectancy. However, individuals with down syndrome can as well live fulfilling and healthy lives.
Current medical advancements, institutional and cultural support systems for individuals with trisomy 21 and their loved ones provide numerous opportunities to overcome challenges associated with the condition.
Down syndrome is the most common among the genetic disorders, and it impairs learning ability in children. It is also associated with gut and cardiovascular conditions. A good understanding of the disorder and early intervention significantly improves the quality of life among kids and adults with the disease.
Causes of Down Syndrome
Genes passed from parents to children during reproduction are in the chromosomes. As cells develop, each should have 23 pairs of chromosomes. Half of these chromosomes are obtained from the father, while the other half from the mother.
In babies with trisomy 21, one of the chromosomes failed to separate appropriately, making the baby have three copies or an additional partial copy of chromosome 21. It is the extra chromosome responsible for the mental and physical disorders observed in those with down syndrome. Research indicates that one out of 700 kids in the US has down syndrome.
Types of Down Syndrome
The three types of down syndrome are:
- Trisomy 21
In most cases, down syndrome is not inherited but caused by mistakes during cell division in the early stages of fetal development. Some parents are at an increased risk of having kids with the condition than others. The risk factors include:
- Advanced Maternal Age - The risk of having an infant with trisomy 21 increases with the mother's advancing age because the eggs are at risk of inappropriate chromosome division. Studies indicate that women above 35 are more prone to getting babies with the down syndrome than those below 35 years.
- Carriers of Genetic Translocation - Both women and men may pass the translocation gene for the down syndrome to the babies.
- Having Had a Child with Down Syndrome - Parents who have had a baby in the previous delivery with down syndrome are at increased risk of getting another baby with the condition. For such parents, it is advisable to seek advice from genetic counselors. They will help you assess the risk of getting another child with the disorder.
Symptoms of Down Syndrome
Although screening during pregnancy may reveal a fetus with down syndrome, mothers will not notice any unusual symptoms. Symptoms associated with down syndrome will be evident at delivery because the baby may have:
- Poor muscle tone
- Atypically shaped ears
- Bulging tongue
- Short neck
- Small head and ears
- A flat face
Babies with down syndrome may be of average size. However, they will experience slow development. The developmental disability in people with down syndrome is mild to moderate. The delay in social and mental development may imply that the baby could be having:
- Slow learning ability
- Reduced concentration
- Poor judgment
- Impulsive behavior
Medical complications associated with the down syndrome include hypothyroidism, cataracts, late growth of tooth, congenital heart defects, spinal problems, sleep apnea, dementia, Alzheimer's disease, and poor vision.
Living With Down Syndrome
There isn't a definitive therapy for the condition. However, various educational and support programs have proven to be effective in assisting the patients and their loved ones. They begin with interventions in the early stages. In the US, federal law requires the state to provide therapy programs for the qualification of families.
In the programs, the therapists and teachers will assist the child in learning motor skills, self-help skills, social and sensory skills. The child will also develop cognitive and language abilities. Regardless of the child's intellectual capacity, schools are vital components of the lives of children with down syndrome.
Both private and public schools support individuals with down syndrome with exceptional education opportunities and integrated classrooms. Schooling enhances valuable socialization and helps the kids to develop vital life skills.