Although the signs and symptoms of Down syndrome are very distinct, there are still others that might confuse both doctors and patients. Knowing the characteristics, nature and triggers can be very valuable for finding immediate alleviation measures. You can also avoid complications by checking for the early signs. Here are the complete details.
Incidence and Age
About 1 out of every 1,000 births in the United States results in Down syndrome. There is no link between the condition and ethnic group, socioeconomic status, geographic location and culture. It is a genetic condition primarily, and can display characteristics like cognitive disability, developmental delays and mental retardation. The chances of a person getting Down syndrome is greatly related to the age of his or her mother. Below the age of 25, the incidence is around 1 in every 1,400. At 40 years old, the odds are an estimated 1 in every 100 and about 1 in every 350 at age 35.
Down Syndrome Types
There are 3 types of the condition namely Trisomy 21, Mosaicism and Translocation. Trisomy 21 is the first type which occurs in about 95 percent of individuals with Down syndrome. The patient 3 number 21 chromosomes, instead of 2. There are normally 23 pairs of chromosomes, with each comprised of genes. During conception, the man or woman's pair of chromosomes usually split so that there is only one chromosome found in each sperm or egg. In Trisomy 21, the 21st pair of chromosomes does not split. A double-does then goes to the sperm or egg. About 95% to 97% of the extra chromosome comes from the mother.
Mosaicism is described as a Down syndrome patient having an extra 21st chromosome in only a number of cells, but not in every single one. Other cells usually have the regular pair of 21st chromosomes. The Mosaicism type is the rarest, with only 1% to 2% of patients having it. Translocation happens in about 3% to 4% of Down syndrome patients. The extra part of the 21st chromosome usually attaches to another chromosome. One parent has the extra 21st chromosome material in hidden or balanced form.
The 24 Symptoms
The list of signs and symptoms of Down syndrome includes physical anomalies such as a protruding tongue, abnormally shaped ears, flattened face, snub nose, upward slanting eyes, short neck, flattened nasal bridge, deep palm crease, hypotonia, deep transverse crease of the palm, iris white spots or Brushfield spots, the baby not crying a lot, short stubby hands, short stubby feet and slow physical growth. Thyroid symptoms include autonomic disturbances, congenital hypothyroidism and an enlarged thyroid. The patient may also have mental retardation and developmental delay.
Other Conditions
Children may also develop other medical conditions associated to Down syndrome like cognitive disability or mental retardation. Several kids with Down syndrome have either moderate or mild cognitive disability. Heart defects may also arise in about half of kids with Down syndrome. The defects are found at birth or shortly after.
Other diseases can also be present like Celiac disease, eye conditions and hypothyroidism. Parents should be especially careful, since other health problems can also occur like hearing problems, eye infections, dental problems and respiratory infections. Tissue buildup in parts of the eye can happen. Crooked teeth may also be present later on in life, with an irregularly shaped mouth.
Signs and Symptoms of Down Syndrome
Why People Can Get Down Syndrome
Although the main causative aspect for Down syndrome is genetic, a number of findings suggest that some other factors may also be contributory to the development of the abnormality. It is vital to know about these to stay safe. Early detection and consistency in the prevention and treatment approaches can help a lot in alleviating the problem.
About Types and Causes
Normal human cells have 23 pairs of chromosomes. A chromosome in every pair stems from the father, while the other comes from the mother. There are 3 types of abnormal cell division that involves he 21st chromosome. The cause of Down syndrome is considered to be one of the three types. All three abnormal divisions lead to the extra genetic material from chromosome 21, which is functional for the unique features and developmental problems that is Down syndrome.
In the case of Trisomy 21, the condition is caused by abnormal cell division that occurs while the sperm cell or egg cell is still developing. Patients with trisomy 21 have 3 copies of the chromosome 21 instead of the regular 2. The Mosaic type is rare, caused by the abnormal cell division after fertilization. Kids in this case, have cells with an extra copy of chromosome 21. Translocation type has the regular 2 copies of the chromosome 21, as well as additional material from chromosome 21 attached to the chromosome being translocated. This occurs before or during conception. Environmental and behavioral factors are not known to cause Down syndrome.
On Inheritance
Majority of Down syndrome are actually not inherited. There are mistakes that occur during cell division as the egg, embryo or sperm develops. The translocation Down syndrome is the only type that can be passed from the parents to the kids. Only around 4% of Down syndrome patients have the translocation type. Around 50% of the cases are inherited from either parent. During the occurrences, the father or the mother is a balanced carrier of the translocation, meaning that he or she has a kind of rearranged genetic material, with no extra genetic material. A balanced carrier displays no sign or symptom of the condition, although the translocation can be passed on to the children.
The possibility of passing on the translocation type will depend on the gender of the parent that has the rearranged chromosome 21. There is a risk of around 3% if the father is the carrier. There is a 12% risk if the mother is the carrier.
On Maternal Age
Most cases of Down syndrome is caused by a random event during the formation of reproductive cells, the sperm or ovum. The incidence of Down syndrome actually grows as the mother grows older or with increasing maternal age. Not all parents with translocation trisomy 21 actually are balanced carriers. There may be zero risk in future pregnancies. As mothers grow older, the possibility of errors will grow as close as having a ratio of 1:12 when they reach 45 years old.
Increasing Risk
Several experts recommend that pregnant women age 35 years old or older should undergo prenatal tests and diagnostic procedures to find the possibility of Down syndrome. Using maternal age alone does not detect more than 75% of pregnancies that lead to Down syndrome. It is important that women consider their age as a factor to determine the cause of the problem.
