Down Syndrome

There are three types of Down Syndrome –
• Trisomy 21 –
This is the most common form of Down syndrome. Trisomy 21 means there’s an extra copy of chromosome 21 in every cell.
• Mosaicism –
Mosaicism occurs when a child is born with an extra chromosome in some but not all of their cells. People with Mosaic Down syndrome tend to have fewer symptoms than those with trisomy 21.
• Translocation –
In this type of Down Syndrome, children have only an extra part of chromosome 21. There are 46 total chromosomes. However, one of them has an extra piece of chromosome 21 attached.
Symptoms –

Each person with Down syndrome in an individual – intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects.
As Down syndrome is Trisomy 21still not all people with Down syndrome have the same features, some of the more common features include-

• Flattened face
• Small head
• Short neck
• Upward slanting eyelids
• Tiny white spots on the colored part (iris) of the eye called Brushfield’s spots
• Protruding tongue
• Unusually shaped or small ears
• Broad, short hands with a single crease in the palm
• Relatively short fingers and small hands and palm
• Poor muscle tone
• Excessive flexibility
• Short height
Infants with Down syndrome having trisomy 21 may be average size, but typically they grow slowly and remain shorter than other children of same age.
Most children with Down syndrome have mild to moderate cognitive impairment. Language is delayed and both short and long term memory is affected.Mental and social development delays may mean that the child could have –
• Impulsive behaviour
• Poor judgement
• Short attention span
• SIow learning capabilities
Causes of Down syndrome – Trisomy21 

In all cases of reproduction, both parents pass their genes on to their children. These genes are carried in chromosomes.When the baby’s cells develop, each cell is supposed to receive 23 pairs of chromosomes,for 46 chromosomes total. Half of the chromosomes are from the mother and half are from the father.
In children with Down syndrome, one of the Chromosomes doesn’t separate properly. The baby ends up with three copies or an extra partial copy of chromosome 21, instead of two. This extra chromosome causes problems as the brain and physical features develop.
Risk factors –
• Advancing maternal age
• Having one child with this disease previously
• Being carriers of the genetic  translocation for Down syndrome
Complications –
People with Down syndrome can have a variety of complications, which becomes prominent with growing age. These complications include –
• Heart defects
• Gastrointestinal defects
• Immune disorders
• Obesity
• Leukemia
• Dementia
• Sleep apnea
• Spinal problems
• Other problems like endocrine problems,dental problems, seizures and hearing and vision problems.
Diagnosis – 
Two types of diagnosis criteria is used to rule out Down Syndrome –
• Screening tests during pregnancy can indicate the likelihood or chances that a mother is carrying a baby with Down syndrome.
First trimester combined test
* Blood test – measures the levels of pregnancy associated plasma protein -A(PAPP-A) and the pregnancy hormone known as Human Chorionic Gonadotrophin (HCG).
*Nuchal translucency test – During the test, an ultrasound is used to measure a specific area on the back of your baby’s neck.
Second trimester test
* The quad screen measures your blood level  of four pregnancy associated substances – alpha fetoprotein, estriol, HCG and inhibin A.
• Diagnostic test during pregnancy when comes positive or worrisome, you might consider more testing to confirm the diagnosis.
Diapostic tests that can identify Down Syndrome include –
* Chorionic villus sampling (CVS)
* Aminocentensis
Diagnostic tests for newborns
After birth, the initial diagnosis of Down syndrome is often based on the baby’s appearance. But the features associated with Down syndrome can be found in babies without Down syndrome, so your health care provider will likely order a test called a Chromosomal karyotype to confirm diagnosis. Using a sample of blood, this test analyses your child’s chromosomes.
Treatment  –
There’s no cure for Down syndrome – Trisomy21, but there’s a wide variety of support and educational programs that can help both people with the condition and their families.
Special education teachers and therapists will help your child learn –

 

 

• sensory skills
• social skills
• motor skills
• self-help skills
• language and cognitive abilities
Children with Down syndrome often meet age related milestones. However, they may learn more slowly than other children because Down Syndrome is trisomy21.
School is an important part of the life of a child with Down syndrome, regardless of intellectual ability.Public and private schools support people with Down syndrome and their families with integrated classrooms and special education opportunities.Schooling allows valuable socialization and helps students with Down syndrome build important life skills.
Ayurvedic Perspective-
Down syndrome – Trisomy21 can be categorized as Adhi Bala Pravrutta. This means that they occur before conception. In Ayurvedic text the cause of Down Syndrome in Karmaja(born out of effort).
It is mentioned by Ayurvedic experts that Adhyatmika disorders are basically known to affect One’s intellect, learning capacity and memory.
Panchkarma Procedures-
• Abhyanga –

• Shirodhara- 

• Nasya –