Down's syndrome is a genetic disorder caused by the presence
of an extra copy of chromosome 21 in a baby's cells. In the vast majority of
cases, this isn't inherited and is simply the result of a one-off genetic mistake
in the sperm or egg. The disorder is unique to human species
There is a small chance of having a child with Down's syndrome
with every pregnancy, but the risk increases with the age of the mother. For
example, a woman who is 20 has about a 1 in 1,500 chance of having a baby
with the condition, while a woman who is 40 has a 1 in 100 chance.
There is no evidence that anything done before or during pregnancy
increases or decreases the risk of having a child with Down's syndrome. Although there is no "cure" for Down's syndrome, there
are many ways to help children Down ’s syndrome develop into healthy and
fulfilled individuals who are able to achieve the level of independence right
for them.
This includes:
- · access to good healthcare, including a range of different specialists
- · early intervention programmes to provide support for children and parents
- · good parenting skills and an ordinary / normal family life
- · education and support groups to provide information and help for parents, friends and families
Improved education and support has led to more
opportunities for people with Down's syndrome. These include being able to
leave home, form new relationships, gain employment and lead largely
independent lives.
One in every 691 babies in the United States is born
with Down syndrome, making Down syndrome the most common genetic condition.
Approximately 400,000 Americans have Down syndrome and about 6,000
babies with Down syndrome are born in the United
States each year.
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| March 21st is celebrated as the Down's Syndrome Day |
Life expectancy for people with Down syndrome has increased
dramatically in recent decades – from 25 in 1983 to 60 today. People with Down syndrome attend school,
work, participate in decisions that affect them, have meaningful relationships,
vote and contribute to society in many wonderful ways. All people with Down syndrome experience
cognitive delays, but the effect is usually mild to moderate and is not
indicative of the many strengths and talents that each individual possesses.
Quality educational programs, a stimulating home environment, good health care
and positive support from family, friends and the community enable people with
Down syndrome to lead fulfilling and productive lives.
However, it is important to remember each child is different and
it is not possible to predict how individuals will develop. However social
acceptance and finding a trustworthy peer group is the foremost requirement for
the successful upbringing of them.
Illustration of a diagnostic case history
-by Champa Jaiprakash.
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| A Baby born with Down's Syndrome |
Sanjay, an infant of just fifteen days was taken to the
paediatrician for a general check-up. The doctor referred him to a paediatric
Cardiologist, as he heard murmuring sounds along with the heartbeat.
Shrihari and Sangeetha , parents of Sanjay, sat in Dr.Mohanda’s
Cardiac clinic, silently waiting for their turn, with worried faces. When
Sanjay’s name was called out, they went in to the Doctor’s cabin and wished him.
The nurse took the child and removed his wraps, weighed him, measured his
height, circumference of the head, and placed him ready on the table for further
examination.
Meanwhile the Doctor read the reference letter handed over by
Sangeetha and as he came near Sanjay, he murmered, “Oh, Down’s syndrome”. He
checked the baby for more than ten minutes and in between, asked few questions
to Sangeetha.
As the doctor sat in his
chair, Sangeetha eagerly asked with moist eyes, “Doctor, how is the baby’s
heart? Does he require surgery or can he be cured with medicines? Will he be
alright?” her anxiety poured out with a shower of questions. The doctor
patiently observed her face. After a few seconds, he said, “As you believe,
there is nothing to worry about his heart.” Hearing his words, there was a bit of
a relief among the parents. “There is an extra hole in his heart”, he continued
“but in ninety per cent of such cases the hole closes naturally as the child
grows. Suppose if it does not by the age of five or six we may have to consider
it for surgery. Now there is nothing to worry!”
The doctor gave a break and furthered sharing his diagnosis. “What
you need to be more concerned, is about his respiratory system. He tends to get
cold frequently; if it is not treated properly it may turn into pneumonia. So
never neglect his common cold.” The cautious doctor was sure that every one’s
mind was diverted, he added, “One important thing is – he is a Down’s syndrome
baby- has anybody mentioned about this to you before?” He looked at Sangeetha
and asked. She nodded her head with a no. His gaze turned towards Shrihari and
continued “You know something sir, Parents of Down’s babies are very lucky it
seems”. He was preparing their mind to receive a bigger blow! Removing the pen
stand, he asked Sangeetha to put the baby on his table. “Let me explain about
Down’s syndrome, when a baby is created twenty three pairs of chromosomes are
required. Twenty three chromosomes from you and another set of twenty three
chromosomes from his father, this carries genetic qualities of both your
families. For some unknown reasons some times, may be one in many thousands, an
extra chromosome gets attached on the twenty first chromosome, just like extra
toppings on the Ice-cream scoop. This extra chromosome is dominating and
stronger than all the remaining twenty two pairs. This will hamper the physical
and the mental development of the baby.” He was being very careful in revealing
a serious information to the parents. He
knew how difficult it was for the parents to accept the fact – ‘disability a
problem for the life time’. He
continued, imagining their emotional state, “As soon as I saw the baby I realised
him to be a Down’s syndrome baby but you
may confirm it with a genetic test called karyotype test.
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| John Longdon Down 1886 |
Dr.Mohandas began explaining the features of the downs child. “You
can observe Sanjay’s eyes are slanting, there is a line of fold near the eyes
and they are proportionately smaller to the face than of other babies. The ear
lobes are smaller” he held both the ears in his hands. “Check his hands, there
is only one single line in the centre of the hand, the fingers are shorter than
the palm.” Handling the nimble limbs of the child he said that they are not
firm and can bend the fingers backwards just as we can bend forward, and his.
His tongue being thick he can’t close his mouth fully. This is the reason why
these children get frequent infections in their respiratory system, his speech
may also be effected. Their nose ridge is not sturdy. Just observe his feet, its shape is not like
other children, there is a wide space between the big toe and the other toes.
He also has excess skin on the back of his neck.
The doctor re emphasised the common physical traits of Down
syndrome such as low muscle tone, small stature, an upward slant to the
eyes, and a single deep crease across the center of the palm. Although
each person with Down syndrome is a unique individual and may possess the
same characteristics to different degrees, or not at all they are all
different.
You know something, if we collect all the Down’s children from across
the world, they resemble each other and we feel that they all are siblings. All
of them look so cute. A special quality that we observe in them is that they
mingle with every one very soon and they are very happy with any one. They love
music and dance, they can learn any simple task and do it with at most care and
perseverance.
It is a bit difficult for
them to get formal education and go for higher studies. Their immune system is
not very strong hence they may fall sick frequently. Sangeetha and
Shrihari felt like they had travelled through a new
world after listening, to the information that the Doctor had poured out was
spinning in their minds. He had very tactfully provided all the tough
information with ease, clearly and smoothly. Sangeetha had a woofing whirl wind
inside her. Cute Sanjay was sleeping while all this turmoil was going on around
him.
This is the condition of a child with Down’s syndrome. They need constant
follow up of medical treatment for heart, respiratory system and general health.
For their other physical and mental
development they need physiotherapy, speech therapy and special education. Though their life span is a little lesser than a normal
person they can bloom to their fullest with good training and ample exposure to
nature.
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