Down Syndrome

Down’s syndrome was described by John Langdon Down in 1887, but it was not until 1959 when it was discovered to be (in the majority of cases) caused by the chromosomal abnormality trisomy 21.

Down’s syndrome is the most common autosomal trisomy, and the most prevalent cause of moderate to profound learning disability.

The natural prevalence of Down’s syndrome is 1 in 600 live births, but this has been significantly reduced by prenatal screenings.

The rate of Down’s syndrome increases with increasing maternal age, such that the risk is 1 in 37 births once the mother is age 44. [1]

Learning disability i.e.:

In Down’s syndrome the degree of LD varies considerably from person to person; usually the IQ is between 20 also 50, but in 15 per cent it is greater than 50.

Many people are able to self-care (with prompting) by adolescence, and the majority to live with their families.

Temperament i.e.:

The temperament of children with Down’s syndrome is usually affectionate also easy going, and many show an interest in music.

Moreover, Most have some obsessional characteristics and behaviours, and may be very stubborn about their daily routine, but these are usually subclinical problems.

Behaviour problems i.e.:

They are less frequent than in most other forms of LD; additionally, nevertheless about a quarter of children with Down’s syndrome are chaotic and difficult to engage.

They relish attention and do very well with behavioural therapy approaches.

Ageing i.e.:

In the past, many people with Down’s syndrome died in infancy, but with improved medical care about half now live beyond the age of 50.

Besides this, Signs of ageing appear prematurely and Alzheimer-like neuropathological changes are found in the brain of most of those dying at the age of 40 years or more.

However, for unknown reasons, survivors do not show signs of dementia until later, with a mean age of onset of about 50 years.

Co-morbidities i.e.:

In brief, The most common psychiatric co-morbidities are ADHD, depression, OCD, and schizophrenia. [1]

There are three types of chromosomal aberrations in Down’s syndrome:

1. Non disjunction (94% of cases):

• One pair of chromosome 21 fail to separate at meiosis, such that one gamete has two chromosome 21s, additionally, rising to three after fertilization. [1]
• Furthermore, Trisomy-21 is the commonest where karyotype of mother is normal. [2]

2. Translocation (5%):

• An extra chromosome 21 is joined on to another chromosome (usually 14, 15, or 22), so that whilst the child has 46 chromosomes, there are three copies of the chromosome 21 material. [1]
• Lastly, The translocation is inherited, with asymptomatic carriers containing only 45 chromosomes. [2]

3. Mosaicism (1%):

• This is due to non disjunction at mitosis. Moreover, Some of the cells in the body have three chromosome 21s and others have two.
• The clinical phenotype is often less severe. [1]
• Both normal also trisomic cells are present. [2]

Screening tests:

Women aged 30–35 years or above might receive genetic screening during pregnancy. This is because the chance of having a child with Down syndrome increases as women age.

Screening tests include:

• Nuchal translucency testing: especially, At 11–14 weeks, an ultrasound can measure the clear space in folds of tissue behind the neck of a developing fetus.
• Triple screen or quadruple screen: especially, At 15–18 weeks, this measures the quantities of various substances in the mother’s blood.
• Integrated screen: This combines results from first-trimester blood and screening tests, with or without nuchal translucency, with second-trimester quadruple screening results.
• Cell-free DNA: This is a blood test that analyzes fetal DNA present in the mother’s blood.
• Genetic ultrasound: especially, At 18–20 weeks, doctors combine a detailed ultrasound with blood test results.

Screening is a cost-effective and less invasive way to determine whether more invasive diagnostic tests are needed.

However, unlike diagnostic tests, they cannot confirm whether Down syndrome is present.

Diagnostic tests:

Diagnostic tests are more accurate for detecting Down syndrome. A healthcare professional will usually perform such tests inside the uterus.

However, they increase the risk of miscarriage, fetal injury, and preterm labor.

Diagnostic tests include:

• Chorionic villus sampling: At 8–12 weeks, a doctor might obtain a tiny sample of placenta for analysis, using a needle inserted into the cervix or the abdomen.
• Amniocentesis: At 15–20 weeks, they may obtain a small amount of amniotic fluid for analysis, using a needle inserted into the abdomen.
• Percutaneous umbilical blood sampling: After 20 weeks, the doctor may take a small sample of blood from the umbilical cord for analysis, using a needle inserted into the abdomen.

A healthcare professional can also diagnose Down syndrome after a baby is born by inspecting their physical characteristics, blood, and tissue. [3]

There is no specific treatment for Down syndrome. People who have the condition will receive care for any health problems, as other people do.

However, healthcare professionals may recommend additional health screening for issues common to the condition.

Early intervention can help a person maximize their potential and prepare them to take up an active role in the community.

Physicians, special educators, speech therapists, occupational therapists, and physical therapists, as well as social workers, can all help.

The National Institute for Child Health and Human Development:

It urge all specialists to provide stimulation and encouragement.

Children with specific learning and development difficulties may be eligible for educational support, either in a mainstream or specialized school.

In recent years, the tendency has been to attend mainstream schools, often with additional support to help them integrate and progress.

Some children will make use of an Individualized Education Program (in other words; IEP), which various specialists will support. [3]

Following medicines are commonly used in homeopathy as constitutional or specific or both in Down syndrome individuals:

• Baryta carb
• Calcarea carb
• Calcarea phos
• Causticum
• Phosphorus
• Silicea
• Syphilinum
• Thuja occidentalis
• Tuberculinum

Frequently Asked Questions

What is Down Syndrome?

Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21 and associated with intellectual disability.

Homeopathic Medicines used by Homeopathic Doctors in treatment of Down Syndrome?

• Baryta carb
• Calcarea carb
• Calcarea phos
• Causticum
• Phosphorus
• Silicea
• Syphilinum
• Thuja occidentalis
• Tuberculinum

What are the 3 types of Down Syndrome?

• Non disjunction
• Translocation
• Mosaicism

What are the symptoms of Down Syndrome?

• Flat occiput
• Round face
• Flat nasal bridge
• Short ears
• Visual problems
• Leukaemia
• Atlantoaxial instability
• Speech and language delay
• Early-onset Alzheimer’s disease