Down Syndrome in Macon, GA
Down syndrome, also called Trisomy 21, is a genetic condition in which genetic material on chromosome 21 is altered. The result is an individual with intellectual and developmental issues. Down syndrome is the said to be the most common form of learning disability in children. Despite this, children with Down syndrome can lead productive lives as adults with early intervention.
What causes Down Syndrome?
Down syndrome is caused by a genetic defect. Genes are the blueprints for human development, growth, cell division, cell function and basic everyday functions in general. In reproduction, specific packets of genes called chromosomes are combined to form an embryo. Each parent donates 23 chromosomes (46 in total). These chromosomes form pairs. However, in the case of Down syndrome, chromosome 21 isn’t a pair, it’s a triplet. This is the case in 90% of Down syndrome cases. This extra genetic material is believed to be the cause of Down syndrome.
What about the other 10% of Down syndrome cases? These rare forms of Down syndrome are known as Mosaic Down syndrome and Translocation Down syndrome. With Mosaic, only some cells in the body have the extra chromosomal material. When these cells divide, they form a “mosaic” of sorts, interspersed between normal cells. Translocation Down syndrome is a little different. With translocation, part of the chromosome 21 pair is attached to another chromosome. Unlike Trisomy 21 or mosaic there isn’t an extra chromosome 21, just the usual pair.
Despite what some say, the vast majority of Down syndrome cases are not inherited. It’s an error in cellular division and DNA replication during conception. Translocation Down syndrome does carry a genetic component, however. Sometimes the mother or father has rearranged genetic material—it’s all there—but in a different order (this is called a balanced carrier). When they conceive, this rearrangement in genetic info within chromosomes can cause the extra chromosomal material in chromosome 21.
Down Syndrome Symptoms
Those with Down syndrome may appear normal at birth, but the slow development and growth may be the first sign something is wrong. For others it may be obvious right away as Down syndrome produces some unique physical features:
- Smaller than average head
- Shallow/flat features of the face
- Eyes that slant upwards (not as part of ethnic group features)
- Short neck
- Small or abnormally shaped ears
- Hands that are wide, short (with short fingers) and have only one crease across the palm
- Small feet
- Brushfield spots (white spots on the iris)
- Short height
- Increased flexibility
- Unusual tongue that may extend beyond the mouth
Apart from physical appearance symptoms, Down syndrome can present with some very real health complications. This condition can also cause an increased risk of developing heart defects at birth, certain cancers like leukemia, sleep apnea , obesity , seizures, hearing loss, vision issues, dementia, and several others.
Living with Down Syndrome
Many with Down syndrome can lead fulfilling lives. Thanks in large part to adequate treatment, the average life expectancy of those with Down syndrome is about equal to those without Down syndrome; many people with Down syndrome live into their 80’s.
However, due to the variety and severity of health issues surrounding Down syndrome, a dedicated team of trained specialists is required to ensure overall good health. Cardiologists (heart), gastroenterologists (digestive system), endocrinologists (immune system), neurologists (brain/nervous system), ENTs (ears, nose and throat), speech pathologist (communication), and several others may be needed.
Therapy for parents, like cognitive behavioral therapy has been shown effective in teaching coping strategies for with the challenges of raising a child with Down syndrome.
Request more information about Down syndrome treatment today. Call (770) 674-6311 or contact Dr. Gail Ravello online.
Natural Medical Solutions Wellness Center
Address1130 Upper Hembree Rd.
Roswell, GA 30076
9:00 am - 4:00 pm
Tue: 9:00 am - 4:00 pm
Wed: 9:00 am - 4:00 pm
Thu: 10:00 am - 6:00 pm
Fri: 9:00 am - 2:00 pm
Sat: 9:00 am - 2:00 pm