Down Syndrome is a genetic disorder resulting from chromosomal aberration. Usually, a person is born with 23 pairs of chromosomes (46 chromosomes in total). In the case of a Down Syndrome, there is a total of 47 chromosomes (an extra complete or partial chromosome appearing in the 21st pair). This extra chromosome is the main wrecker in chief that triggers the behavioral and developmental alterations characteristic of Down Syndrome.

Depending on the distribution of the chromosome during cell division, Down Syndrome may be triggered by three conditions

Trisomy 21: One of the most common causes of Down Syndrome, Trisomy 21 is characterized by the presence of an extra chromosome in chromosome 21.
Translocation Down syndrome: As the name suggests, here a part of the chromosome 21 translocates itself to some other chromosome. There will be no trisomy on chromosome 21. However, there will be extra genetic material resulting from the chromosome containing the translocated portion of chromosome 21.
Mosaic Down Syndrome: This is a rare condition where some cells will have 46 chromosomes (23 pairs) while few others will have 47 chromosomes (trisomy 21).
Symptoms characteristic of Down Syndrome
Some of the symptoms synonymous to Down Syndrome include

The face appears flattened with a short mouth and a protruding tongue.
The ears, neck, arms, and legs are shorter than usual.
Children and adults with Down Syndrome usually have a short stature.
The muscles also lack proper tone.
Children with Down Syndrome are often found to have impaired cognitive ability. The condition also affects the memory, both short, as well as long-term.
Managing a child with Down Syndrome
No parent would ever want their child to suffer from Down Syndrome. Along with the medications and therapies, as a parent, you should also be prepared to manage the situation well.

The situation is by no means easy for you, but if you get weak or panic, things will only go from bad to worse. Thus, you need to be strong.
Be in constant touch with the attending physician to know the progress of your child.
If your child is still very young, get them enrolled in the special enhancement programs. These programs play a significant role in improving the language, motor movements, as well as developing the various self-help skills in the Down Syndrome children.
Connect with families dealing with identical situations. Discussing your problems with them or learning about theirs can help in better management.
Your concern for the child is understood but do not snatch their independence. Give them the freedom they deserve. They might make mistakes, but it will help build their confidence.
If the situation demands, get your child admitted to schools which are specially designed for such children.
Do not keep your child confined within the four walls of the home. Take them outside. Let them interact with people. Indulge in family outings and get-togethers.
The situation may be difficult but not impossible. Have faith and do what is in your hands.

Down Syndrome - How It Should Be Dealt With?

Down syndrome is a chromosomal disorder that is caused by the presence of an extra chromosome. A genetic condition, it causes physical and cognitive impairments and can lead to disabilities and increase the risk of a number of health problems.

Causes
Each cell in our body contains 23 pairs of chromosomes where one chromosome in the pair comes from the mother and the other comes from the father. But in the individuals with Down syndrome, the chromosome 21 has an extra copy. This means that there are three copies instead of the usual two. The reasons behind this genetic abnormality remains unknown as of yet, but there are a few risk factors that might increase the chances of the condition.

Women who are older than 35 years of age have a higher risk of their children being born with Down syndrome.
If a woman has a child with Down syndrome, then chances are that the next child might be born with the condition as well.
Though uncommon, Down syndrome has been seen to have been passed from parent to child.
Symptoms
Children born with Down syndrome exhibit certain characteristic symptoms which include flattened facial features, a short neck and eyes that slant upwards. Ears that are atypically shaped and muscles that lack tone are also symptoms of Down syndrome. Physical growth and development of the child are also hindered by the condition. A child with Down syndrome might also display social and mental disabilities that include a short span for attention, a lack of judgment and issues with impulse control.

Complications
Down syndrome can lead to a number of medical complications that include but are not limited to visual impairment, leukemia, chronic constipation, dementia, hypothyroidism and Alzheimer s disease in the later stages of life.

Homeopathic Treatments
Homeopathic treatment methods of Down syndrome focus on the development and improvement of the behavioral and cognitive abilities of a child with Down syndrome. The treatment that is usually prescribed includes homeopathic medicines and bio-neural supplements that help remedy the disorder. These also reduce the effects that the condition might exert on the physical growth and intellectual development of the child.

A child with Down syndrome might find it difficult to communicate and recognize objects and people. Homeopathic treatment can help remedy these shortcomings. Homeopathic treatment for Down syndrome should be initiated at the earliest possible in order to help the child with behavioral and physical development.

Down Syndrome - Signs & Symptoms You Must Not Ignore!

A genetic disorder, Down s Syndrome is caused due to extra genetic material during cell division. It is the faulty arrangement of chromosomes which results in the Down s Syndrome. It approximately affects one in 800 births around the world, across a wide spectrum of race, gender, region, and socio-economy. Since it is a naturally occurring condition whose underlying cause cannot be controlled or regulated, there is nothing one can do to undo this condition. Instead, people with Down s Syndrome, because they are generally socially and intellectually underdeveloped, are equipped with learnings and interventions related to life-skills from very early in life and striving towards making them independent. Various therapies can be incorporated for improving the overall quality of life of the people born with Down s Syndrome.

Occupational Therapy and Down s Syndrome -

Development of motor skills is delayed in the children born with Down s Syndrome. This is due to their certain physical characteristics like low muscle tone (hypotonia), loose ligaments or ligamentous laxity making the joints extra flexible, and decreased strength.

The aim of the Occupational Therapy for children born with Down s Syndrome is to facilitate or enable the development of movement patterns optimally, as against accelerating the rate of development which is a general assumption. It helps in achieving developmental milestones in an efficient manner. Occupational Therapy hence helps children in developing a good or correct posture, aligning their foot properly for proper balance and movement, improving their walking pattern, and helping them generally through developing fine and gross motor skills for carrying out daily activities.

Moreover, Occupational Therapy helps in teaching self-care skills like getting dressed, eating, toileting writing, using a computer, etc. For teenagers, Occupational Therapy helps in identifying suitable skills, careers, jobs, and vocations to match with strengths, capabilities, and interests. Sensory integration activities help in teaching the child to produce an appropriate response to any situation, and in developing attention and concentration.

Occupational Therapy Assessment -

Children with Down s Syndrome have delayed gross and fine motor skills, and lack basic cognitive and communication skills among many other issues they face due to their condition. Occupational Therapy addresses all these shortcomings of development for comprehensive management of the disease.

Occupational Therapy checks the sensorimotor components like muscular tone, strength, endurance, coordination, balance, range of motion, hand function, and posture. It also checks the perceptual and cognitive components like memory, attention, figure-ground, and directionality. For checking social skills, areas like peer relationship, verbal and non- verbal communication, and group interaction are assessed.

According to the assessment results, intervention strategies and fun activities are devised for the child to promote optimal function of motor senses.

Take Away -

Down s Syndrome cannot be cured but can be managed through methods like Occupational Therapy which helps in teaching basic life skills for making the patients confident and independent to face the world on their own.

Down Syndrome - Know How Occupational Therapy Can Help!

Chromosomal abnormality happens when a cell has too many or too few chromosomes. The most common form of chromosomal anomaly is Down s syndrome. If a parent has a chromosomal anomaly, she/he will pass it on to the child. PGD or Pre-implantation Genetic Testing aims to select only the embryos with normal chromosomal count and only these embryos are implanted to achieve a healthy pregnancy and bring down the number of children affected with a chromosomal anomaly.

The risk of Aneuploid pregnancy:

The older a woman is when she tries to conceive (aged 35 or more), the higher the risk of Aneuploid pregnancy (carrying a baby with genetic or chromosomal abnormality). Most of these pregnancies end in miscarriages and the few that come to term produce babies with chromosomal abnormalities.

Causes of Chromosomal Abnormality:

Usually, chromosomal abnormalities occur due to an error in the cell division. Meiosis refers to the cell division, which the sperm and the egg undergo during the development procedure. Normally, meiosis breaks the chromosomal material into two equal halves, so that each of the parents contributes 23 chromosomes to the pregnancy. However, when the number of chromosomes in the cell goes up or down than the normal, it results in genetic/chromosomal anomalies.

PGD Procedure for a Chromosomal Anomaly:

If a couple elects to go for Pre-implantation Genetic Diagnosis, they have to undergo ICSI Cycle. ICSI cycle initiates a fertilization cycle to produce embryos. When the embryos reach upto day 5 and blastocyst are formed, they are biopsied and further sent to genetic lab for detecting the chromosomal abnormalities. The embryos are incubated for the entire duration of the genetic screening. Only the embryos that the genetic test clears are implanted. PGD never reveals the gender of the embryo.

PGD can help detect the single genetic disorders that may lead to the following ailments:

  Cystic fibrosis
  Muscular dystrophy
  Tay-Sachs
  Sickle cell anaemia
  Thalassemia
  Turner syndrome

PGD is a revolutionary science that can help root out incurable disorders linked to genetics. It ensures that pregnancy is sustained until term and a healthy baby is born.

Suffering From Genetic & Chromosomal Anomalies - Know About PGD!

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Dr. Swapnil Gawande

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Dr. Neha Agrawal

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