Down syndrome is a condition that occurs due to abnormality in cell division where there is an extra copy of chromosome 21. The symptoms of down syndrome vary in different affected children and they can range from mild to severe. The condition commonly causes difficulties in learning and delayed growth or reaching milestones in the affected children.
Down syndrome cannot be prevented or cured but Newport Beach preimplantation genetic testing can help to assess the risk of having a child with Down syndrome in couples who want to go through in-vitro fertilization. Children with Down’s Syndrome can reach adulthood if they do not have life-threatening complications from the condition. There are many ways to cope with the condition like enrolling in special education.
What Causes Down’s Syndrome?
There are various causes of Down’s Syndrome but the most common one is having one extra copy of chromosome 21 in what is referred to as trisomy 21. In normal cell division, there is supposed to be only two copies of chromosome 21. Over 94% of children with Down’s Syndrome have this trisomy 21 chromosomal defects.
Another cause of Down’s Syndrome is translocation of the chromosome 21 to other chromosomes. The child will have two copies of chromosome 21 but then have another chromosome 21 attached to a different chromosome. This is less common than trisomy 21. Another genetic abnormality called Mosaic Down’s syndrome presents itself through a mixture of cells with the normal 2 copies of chromosome 21 and some cells with extra copies. This is a very rare condition.
Some factors increase the risk of downs syndrome like a higher maternal age at the time of conception. This is because the older the ova get, the higher their chances of abnormally dividing. The risk increases at a maternal age of above 35 years.
Couples who are carriers of genetic translocation of chromosome 21 are also at an increased risk of having a child with downs. Having a child with downs also increases the chances of having other children with Down’s syndrome. Down’s syndrome is not associated with environmental or behavioral triggers.
What Are the Symptoms of Down’s Syndrome?
The presentation of downs syndrome varies from child to child. Some of the common symptoms of downs syndrome include having a face that is flat in appearance, low-set ears with abnormal shapes, a smaller than average head, and a tongue that is protruding outwards. The affected children also have muscular abnormalities like reduced muscle tone or being overly flexible.
Another symptom of downs is having a very short neck. These children also have anti-mongoloid eyes where their eyelids face upwards. Symptoms of downs syndrome appearing in the hands include having small broad hands with tiny fingers and with only one palmar crease. They also have Brushfield’s spots on the iris. Children with Down’s syndrome have learning disabilities and tend to have delayed growth resulting in short height.
What Are the Complications of Down’s Syndrome?
The severity of Down’s Syndrome varies from one affected child to the other. Some of the complications include atrial septal defects in the heart that may require surgical intervention. Some children may also have abnormalities of the immune system and some may develop autoimmune conditions where the body’s immune system fights against the body.
Other complications include having a higher risk of some cancers like leukemia. Children with downs syndrome are also at a higher risk of becoming obese than children without downs. Having a short neck and being overweight increases the risk of having obstructive sleep apnea. Some children may also suffer from defects of the spinal cord and gastrointestinal system.
Down’s syndrome is a genetic condition that is caused by abnormal cell division affecting chromosome 21. Maternal age of above 35 years at conception, having a child with downs, and the parents being carriers of the genetic abnormalities increase the risk of downs. Some children may have heart, gastrointestinal, and immunity complications. Downs syndrome cannot be prevented but couples can assess their risk before conception.
