Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of the third copy of chromosome 21. It is typically associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely. In 2015, Down syndrome was present in 5.4 million individuals globally and resulted in 27,000 deaths, down from 43,000 deaths in 1990. The figures are shocking but people in need may learn and apply Free Siddha energy remedies of Siddha Spirituality of Swami Hardas Life System, which needs no money and medicines. Hence, let us know what is a down syndrome, symptoms, causes, diagnosis, treatments, stem cell therapy, and Free Siddha energy remedies.
Down syndrome definition
A congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21, usually an extra copy (trisomy-21).
Down syndrome facts
There is no cure for Down syndrome.
Education and proper care have been shown to improve quality of life. Some children with Down syndrome are educated in typical school classes, while others require more specialized education.
Down syndrome is one of the most common chromosome abnormalities in humans. It occurs in about one per 1,000 babies born each year.
In 2015, Down syndrome was present in 5.4 million individuals globally and resulted in 27,000 deaths, down from 43,000 deaths in 1990.
Down syndrome life expectancy
Life expectancy is around 50 to 60 years in the developed world with proper health care.
Down syndrome symptoms
Those with Down syndrome nearly always have physical and intellectual disabilities. As adults, their mental abilities are typically similar to those of an 8 or 9-year-old. They also typically have a poor immune function and generally, reach developmental milestones at a later age. They have an increased risk of a number of other health problems, including a congenital heart defect, epilepsy, leukemia, thyroid diseases, and mental disorders.
|Increased skin on the back of the neck
|Low muscle tone
|Obstructive sleep apnea
|The narrow roof of the mouth
|Bent fifth fingertip
|Brushfield spots in the iris
|Single transverse palmar crease
|Proportionally large tongue
|Abnormal outer ears
|Congenital heart disease
|Separation of first and second toes
Down syndrome Physical characteristics
People with Down syndrome may have some or all of the physical characteristics:
- A small chin
- Slanted eyes
- Poor muscle tone
- A flat nasal bridge
- A single crease of the palm
- A protruding tongue due to a small mouth and relatively large tongue
These airway changes lead to obstructive sleep apnea in around half of those with Down syndrome. Other common features include:
- A flat and wide face
- A short neck
- Excessive joint flexibility
- Extra space between the big toe and second toe
- Abnormal patterns on the fingertips and short fingers
Instability of the atlantoaxial joint occurs in about 20% and may lead to spinal cord injury in 1–2%. Hip dislocations may occur without trauma in up to a third of people with Down syndrome.
Growth in height is slower, resulting in adults who tend to have short stature—the average height for men is 154 cm (5 ft 1 in) and for women is 142 cm (4 ft 8 in).
Individuals with Down syndrome are at increased risk for obesity as they age. Growth charts have been developed specifically for children with Down syndrome.
Despite growth retardation, the difference in height between the sexes is the same as that found in healthy individuals. Even though puberty appears somewhat early, the charts show that DS individuals have a decreased pubertal growth rate. Our growth charts show that European boys with DS are taller than corresponding American boys, whereas European girls with DS, although being lighter, have a similar height to corresponding American girls.
This syndrome causes about a third of cases of intellectual disability. Many developmental milestones are delayed with the ability to crawl typically occurring around 8 months rather than 5 months and the ability to walk independently typically occurring around 21 months rather than 14 months.
Most individuals with Down syndrome have mild (IQ: 50–69) or moderate (IQ: 35–50) intellectual disability with some cases having severe (IQ: 20–35) difficulties. Those with mosaic Down syndrome typically have IQ scores 10–30 points higher. As they age, people with Down syndrome typically perform worse than their same-age peers.
Commonly, individuals with Down syndrome have better language understanding than the ability to speak. Between 10 and 45% have either a stutter or rapid and irregular speech, making it difficult to understand them. Some after 30 years of age may lose their ability to speak.
They typically do fairly well with social skills. Behavior problems are not generally as great an issue as in other syndromes associated with intellectual disability. In children with Down syndrome, mental illness occurs in nearly 30% with autism occurring in 5–10%.
People with Down syndrome experience a wide range of emotions. While people with Down syndrome are generally happy, symptoms of depression and anxiety may develop in early adulthood.
Children and adults with Down syndrome are at increased risk of epileptic seizures, which occur in 5–10% of children and up to 50% of adults. This includes an increased risk of a specific type of seizure called infantile spasms. Many (15%) who live 40 years or longer develop Alzheimer disease. In those who reach 60 years of age, 50–70% have the disease.
Hearing and vision disorders occur in more than half of people with Down syndrome. Vision problems occur from 38 to 80%. Between 20 and 50% have strabismus, in which the two eyes do not move together. Cataracts (cloudiness of the lens of the eye) occur in 15% and may be present at birth.
The rate of congenital heart disease in newborns with Down syndrome is around 40%. Of those with heart disease, about 80% have an atrioventricular septal defect or ventricular septal defect with the former being more common.
Mitral valve problems become common as people age, even in those without heart problems at birth. Other problems that may occur include tetralogy of Fallot and patent ductus arteriosus. People with Down syndrome have a lower risk of hardening of the arteries.
Although the overall risk of cancer in DS is not changed, the risk of testicular cancer and certain blood cancers, including acute lymphoblastic leukemia (ALL) and acute megakaryoblastic leukemia (AMKL) is increased while the risk of other nonblood cancers is decreased. People with DS are believed to have an increased risk of developing cancers derived from germ cells whether these cancers are blood or non-blood related.
Leukemia is 10 to 15 times more common in children with Down syndrome. In particular, acute lymphoblastic leukemia is 20 times more common and the megakaryoblastic form of acute myeloid leukemia (acute megakaryoblastic leukemia), is 500 times more common.
In Down syndrome, AMKL is typically preceded by transient myeloproliferative disease (TMD), a disorder of blood cell production in which non-cancerous megakaryoblasts with a mutation in the GATA1 gene rapidly divide during the later period of pregnancy.
The condition affects 3–10% of babies with Down. While it often spontaneously resolves within three months of birth, it can cause serious blood, liver, or other complications. In about 10% of cases, TMD progresses to AMKL during the three months to five years following its resolution.
People with DS have a lower risk of all major solid cancers including those of lung, breast, cervix, with the lowest relative rates occurring in those aged 50 years or older. This low risk is thought due to an increase in the expression of tumor suppressor genes present on chromosome 21. One exception is testicular germ cell cancer which occurs at a higher rate in DS.
Problems of the thyroid gland occur in 20–50% of individuals with Down syndrome. Low thyroid is the most common form, occurring in almost half of all individuals. Thyroid problems can be due to a poorly or nonfunctioning thyroid at birth which occurs in 1% or can develop later due to an attack on the thyroid by the immune system resulting in Graves’ disease or autoimmune hypothyroidism. Type 1 diabetes mellitus is also more common.
Constipation occurs in nearly half of people with Down syndrome and may result in changes in behavior. One potential cause is Hirschsprung’s disease, occurring in 2–15%, which is due to a lack of nerve cells controlling the colon.
Other frequent congenital problems include:
- Duodenal atresia
- Pyloric stenosis
- Meckel diverticulum
- Imperforate anus
Celiac disease affects about 7–20% and gastroesophageal reflux disease are also more common.
Individuals with Down syndrome tend to be more susceptible to gingivitis as well as early, severe periodontal disease, necrotizing ulcerative gingivitis, and early tooth loss, especially in the lower front teeth.
While plaque and poor oral hygiene are contributing factors, the severity of these periodontal diseases cannot be explained solely by external factors.
Individuals with Down syndrome also tend to have more alkaline saliva resulting in greater resistance to tooth decay, despite decreased quantities of saliva, less effective oral hygiene habits, and higher plaque indexes.
Higher rates of tooth wear and bruxism are also common. Other common oral manifestations of Down syndrome include:
- Enlarged hypotonic tongue
- Crusted and hypotonic lips
- Mouth breathing
- Narrow palate with crowded teeth
- Class III malocclusion with an underdeveloped maxilla and posterior crossbite
- Delayed exfoliation of baby teeth and delayed eruption of adult teeth
- Shorter roots on teeth
- Missing and malformed (usually smaller) teeth
Less common manifestations include cleft lip and palate and enamel hypocalcification (20% prevalence).
Males with Down syndrome usually do not father children, while females have lower rates of fertility relative to those who are unaffected. Fertility is estimated to be present in 30–50% of females. Menopause typically occurs at an earlier age.
The poor fertility in males is thought to be due to problems with sperm development; however, it may also be related to not being sexually active.
Down syndrome Causes
Down syndrome is caused by having three copies of the genes on chromosome 21, rather than the usual two. The parents of the affected individual are typically genetically normal.
The extra chromosome content can arise in several different ways. The most common cause (about 92–95% of cases) is a complete extra copy of chromosome 21, resulting in trisomy 21.
The other common mechanisms that can give rise to Down syndrome include:
- A Robertsonian translocation
- Ring chromosome
These contain additional material from chromosome 21 and occur in about 2.5% of cases. An isochromosome results when the two long arms of a chromosome separate together rather than the long and short arm separating together during egg or sperm development.
Trisomy 21 (also known by the karyotype 47, XX,+21 for females and 47, XY,+21 for males) is caused by a failure of the 21st chromosome to separate during egg or sperm development. As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 chromosomes.
When combined with a normal cell from the other parent, the baby has 47 chromosomes, with three copies of chromosome 21. About 88% of cases of trisomy 21 results from nonseparation of the chromosomes in the mother, 8% from nonseparation in the father, and 3% after the egg and sperm have merged.
The extra chromosome 21 material may also occur due to a Robertsonian translocation in 2–4% of cases. In this situation, the long arm of chromosome 21 is attached to another chromosome, often chromosome 14.
In a male affected with Down syndrome, it results in a karyotype of 46XY,t(14q21q). This may be a new mutation or previously present in one of the parents. The parent with such a translocation is usually normal physically and mentally; however, during the production of egg or sperm cells, a higher chance of creating reproductive cells with extra chromosome 21 material exists.
This results in a 15% chance of having a child with Down syndrome when the mother is affected and a less than 5% probability if the father is affected. The probability of this type of Down syndrome is not related to the mother’s age.
Some children without Down syndrome may inherit the translocation and have a higher probability of having children of their own with Down syndrome. In this case, it is sometimes known as familial Down syndrome.
Down syndrome diagnosis
When screening tests predict a high risk of Down syndrome, a more invasive diagnostic test is needed to confirm the diagnosis. If Down syndrome occurs in one in 500 pregnancies and the test used has a 5% false-positive rate, this means, of 26 women who test positive on screening, only one will have Down syndrome confirmed.
Down syndrome abortion
About 92% of pregnancies in Europe with a diagnosis of Down syndrome are terminated. As a result, there are almost no people with Down’s in Iceland and Denmark, where screening is commonplace.
In the United States, the termination rate after diagnosis is around 75% but varies from 61% to 93% depending on the population surveyed. Rates are lower among women who are younger and have decreased over time.
The diagnosis can often be suspected based on the child’s physical appearance at birth. An analysis of the child’s chromosomes is needed to confirm the diagnosis, and to determine if a translocation is present, as this may help determine the risk of the child’s parents having further children with Down syndrome. Parents generally wish to know the possible diagnosis once it is suspected and do not wish pity.
Down syndrome screening
The different screening techniques in use are able to pick up 90–95% of cases with a false-positive rate of 2–5%:
|Week of Pregnancy when performed
|Uses ultrasound to measure nuchal translucency in addition to blood tests for free or total beta-hCG and PAPP-A
|Measures the maternal serum alpha-fetoprotein, unconjugated estriol, hCG, and inhibin-A
|Is a combination of the quad screen, PAPP-A, and NT
|Cell-free fetal DNA
|From 10 Wks
|A blood sample is taken from the mother by venipuncture and is sent for DNA analysis.
Down syndrome Ultrasound
Ultrasound imaging can be used to screen for Down syndrome. Findings that indicate increased risk when seen at 14 to 24 weeks of gestation include a small or no nasal bone, large ventricles, nuchal fold thickness, and an abnormal right subclavian artery, among others.
The presence or absence of many markers is more accurate. Increased fetal nuchal translucency (NT) indicates an increased risk of Down syndrome picking up 75–80% of cases and being falsely positive in 6%.
Several blood markers can be measured to predict the risk of Down syndrome during the first or second trimester. Testing in both trimesters is sometimes recommended and test results are often combined with ultrasound results.
In the second trimester, often two or three tests are used in combination with two or three of:
- Unconjugated estriol
- Total hCG
- Free ?hCG detecting about 60–70% of cases
Testing of the mother’s blood for fetal DNA is being studied and appears promising in the first trimester. The International Society for Prenatal Diagnosis considers it a reasonable screening option for those women whose pregnancies are at high risk for trisomy 21.
Accuracy has been reported at 98.6% in the first trimester of pregnancy. Confirmatory testing by invasive techniques is still required to confirm the screening result.
Down syndrome Management
Efforts such as early childhood intervention, screening for common problems, medical treatment where indicated, a good family environment, and work-related training can improve the development of children with Down syndrome.
Education and proper care can improve quality of life. Raising a child with Down syndrome is more work for parents than raising an unaffected child. Typical childhood vaccinations are recommended.
A number of health organizations have issued recommendations for screening those with Down syndrome for particular diseases. This is recommended to be done systematically.
Hearing aids or other amplification devices can be useful for language learning in those with hearing loss. Speech therapy may be useful and is recommended to be started around nine months of age.
As those with Down syndrome typically have good hand-eye coordination, learning sign language may be possible. Augmentative and alternative communication methods, such as pointing, body language, objects, or pictures, are often used to help with communication.
Behavioral issues and mental illness are typically managed with counseling or medications.
Education programs before reaching school age may be useful. School-age children with Down syndrome may benefit from inclusive education, provided some adjustments are made to the curriculum. Evidence to support this, however, is not very strong.
In the United States, the Individuals with Disabilities Education Act of 1975 requires public schools generally to allow attendance by students with Down syndrome.
Individuals with Down syndrome may learn better, visually. Drawing may help with language, speech, and reading skills.
Children with Down syndrome still often have difficulty with sentence structure and grammar, as well as developing the ability to speak clearly.
Several types of early intervention can help with cognitive development. Efforts to develop motor skills include:
Physical therapy focuses specifically on motor development and teaching children to interact with their environment.
Speech and language therapy can help prepare for later language.
Lastly, occupational therapy can help with skills needed for later independence. To watch a video clip, please click.
Down syndrome & Stem Cell Therapy
Stem cell technology provides plenty of novel means for disease treatment. Down syndrome is one of the diseases that is known as untreatable.
So far, there is no effective treatment for Down syndrome except for physiotherapy and special education. However, physiotherapy and special education can only help children with Down syndrome to a certain level.
Neural stem cell transplantation therapy is used in treating patients with Down syndrome. 300 Down syndrome patients have been treated with neural stem cell transplantation therapy.
Patients’ age is from 8 months to 8 years. Most of the patients showed different levels of improvements in intellectual development, gait, speech, muscle strength and reaction velocity. Desirous persons can contact “Journal of Stem Cell Research & Therapy” at +441902928240 for further inquiries.
Down syndrome & Free Siddha Energy Remedies
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