A full or partial extra copy of chromosome 21 is produced as a result of abnormal cell division in Down syndrome, which results in the physical characteristics and developmental delays associated with the condition.
The most common genetic chromosomal disorder and cause of learning disabilities in children, down syndrome varies in severity across individuals and is associated with lifelong intellectual disability and developmental delays.
The quality of life and ability to lead fulfilling lives for children and adults with Down syndrome can be greatly improved by greater knowledge of the disorder and early interventions.
SYMPTOMS OF DOWN SYNDROME
Down syndrome sufferers are all unique individuals.
Mild, moderate, or severe intellectual and developmental issues are possible.
While some people have serious health issues, like serious heart defects, others are in generally good health.
The facial characteristics of people with Down syndrome vary between children and adults.
Among the more prevalent characteristics are:
- Flattened face
- Small head
- Short neck
- Protruding tongue
- Palpebral fissures, or upward-slanted eyelids
- small or oddly shaped ears
- Poor muscle tone
- Short hands that are wide and have just one crease in the palm
- small hands, feet, and fingers that are relatively short.
- Excessive flexibility
- Brushfield’s spots are minuscule white flecks that appear on the iris of the colored part of the eye.
- Short height
Even if their size is average at birth, infants with Down syndrome typically grow slowly and stay shorter than children their own age.
CAUSES OF DOWN SYNDROME
Each pair of chromosomes in a human cell typically consists of 23 copies, with one copy coming from the mother and the other from the father.
Any one of three genetic variations can cause Down syndrome, which is characterized by abnormal cell division involving chromosome 21 that results in an extra partial or full chromosome 21.
- Trisomy 21 –Trisomy 21, which results from abnormal cell division during the development of the sperm cell or the egg cell, accounts for approximately 95% of cases of Down syndrome, where the individual has three copies of chromosome 21 instead of the normal two copies in all cells.
- Mosaic Down syndrome –Only some of a person’s cells have an extra copy of chromosome 21 in this uncommon form of Down syndrome.
- Translocation Down syndrome –These children have the typical two copies of chromosome 21, but they also have additional genetic material from chromosome 21 attached to another chromosome. Down syndrome can also occur when a portion of chromosome 21 becomes attached into another chromosome, before or at conception.
Is it inherited ?
Down syndrome is frequently not inherited; instead, it results from an error in cell division early in the fetus’ development.
RISK FACTORS
Down syndrome is more likely to be born to some parents for a variety of reasons, including:
- Growing maternal age: Older ages have a higher risk of improper chromosome division, which increases a woman’s likelihood of giving birth to a child with Down syndrome.
- After the age of 35, a woman has a higher chance of becoming pregnant with a child who has Down syndrome.
- But because younger women give birth to so many more children, the majority of Down syndrome sufferers are born to them.
- Being carriers of the genetic translocation for Down syndrome-The Down syndrome genetic translocation can be passed on to future generations by both sexes.
- A genetic counselor can help parents evaluate the risk of having a second child with Down syndrome. **Having had one child with Down syndrome** Parents who have a translocation themselves and parents who have had one child with Down syndrome are at an increased risk of having another child with the condition.
COMPLICATIONS OF DOWN SYNDROME
Complications that can affect people with Down syndrome can range from the following, some of which may worsen with aging:
- Heart defects-Congenital heart defects are present at birth in about half of Down syndrome patients.
- Gastrointestinal (GI) defects –The likelihood of developing digestive issues like GI blockage, heartburn (gastroesophageal reflux), or celiac disease may be increased in some children with Down syndrome who have GI abnormalities, which can include abnormalities of the intestines, esophagus, trachea, and anus.
- Immune disorders –People with Down syndrome are more likely to develop infectious diseases like pneumonia, autoimmune diseases, and some types of cancer due to abnormalities in their immune systems.
- Sleep apnea –Children and adults with Down syndrome are more likely to develop obstructive sleep apnea because of soft tissue and skeletal changes that cause their airways to become blocked.
- Obesity: Compared to the general population, Down syndrome patients are more likely to be obese.
- Spinal problems –Atlantoaxial instability, a condition that puts some people with Down syndrome at risk for serious spinal cord damage from neck overextension, affects the top two vertebrae in the neck in some affected individuals.
- Leukemia –The risk of leukemia is higher in young children with Down syndrome.
- Dementia –The first signs and symptoms of dementia in people with Down syndrome may appear around the age of 50.
- Other problems –Along with seizures, ear infections, endocrine issues, dental issues, hearing and vision issues, and hearing and vision loss, down syndrome may also be linked to other medical conditions.
Maintaining a healthy lifestyle for those who have Down syndrome can be made easier by receiving regular medical care and seeking treatment for problems as they arise.
Life SPAN
Depending on the severity of health issues, a person with Down syndrome today can expect to live for over 60 years.
HOMEOPATHIC TREATMENT FOR DOWN SYNDROME
As in the case of Down syndrome, the characteristic physical and mental symptoms appear due to the presence of an extra gene; however, this genetic makeup cannot be altered but the expressions can.The identification of cause can be of great help.Homeopathy in such cases, the prenatal and family history is very important.
Constitutional – Individualized Medicine:The terms “constitutional” and “individualized medicines” are frequently used in homeopathy, where the goal of constitutional treatment is to determine the best individualized remedy for a case and the overall goal of such treatment is to strengthen the immune system so that a person with Down syndrome does not easily contract infections, allergies, and other diseases and can also lessen the tendency to develop a particular disease repeatedly.
Acute – Chronic Diseases:If we study a case in-depth, we can distinguish between an acute condition and an acute presentation of a chronic disease because Down syndrome patients may experience acute diseases, acute exacerbations of chronic diseases, and recurrent presentations of chronic diseases.
In homeopathy, the following drugs are frequently prescribed to people with Down syndrome as either constitutional, specific, or both:
- Baryta carb
- Calcarea carb
- Calcarea phos
- Causticum
- Phosphorus
- Silicea
- Syphilinum
- Thuja occidentalis
- Tuberculinum
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