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Fetal Autopsy-diagnosis & counseling
Testing for Neurological Disorder
Counseling for abnormal Genetic Sonogram
Genetic tests for Male infertility
Counseling & Genetic Testing for Familial Cancers
Treatment of Recurrent Abortions
Genetic Counseling Services
Treatment of Primary Amenorrhoea
Preconception / Premarital Counseling
Diagnosis & Testing for Neuromuscular Disorders
Counseling for Intrauterine Infections (TORCH)
Prenatal Diagnosis By Amniocentesis
Prenatal Diagnosis By CVS
Interpretation & Analysis of Microarray
Whole Genome Sequencing Analysis
Whole Genome Sequencing Analysis
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Patient Review Highlights
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.
In case you have a concern or query you can always consult an expert & get answers to your questions!
Hi, please suggest a diet for 2 years baby boy. His weight is 9 kgs. He has Down syndrome. He had a heart surgery but now ut is totally curried. His muscle tone is very poor. So please suggest a good diet plan Thanks.
Hello doctor I have done my quadruple screen test it shows The calculated risk for Trisomy 21 is above the cut off which represents an increased risk. My nt scan is gud there is not any problem. My doctor suggested me to do amniocentesis test. I'm so tensed that can I go for this test or not. What will I do I just dont understand.
If your kid is affected by Duchenne muscular dystrophy (DMD), it is important for you to know about the best ways of dealing with the condition. Muscular dystrophy consists of group of diseases, which result in the weakening of muscles along with reduced flexibility. DMD accounts for being the most common type of muscular dystrophy. It occurs because of flaws in the gene, which controls how your body keeps the muscles healthy. This disease affects boys and the symptoms start appearing from early childhood.
There is no specific treatment for DMD. However, there are several ways, including medicines and therapy, to deal with the symptoms and to protect the muscles.
- Several steroids such as prednisone help in slowing down muscle damage. Children taking this medicine are able to walk for two to five years longer than they would usually do. Lung and heart functions are also improved.
- DMD leads to heart problems and hence, you should take your child to a heart doctor for regular checkups until the age of 10.
- In some cases, a surgery may be required to fix their shortened muscles, for straightening the spine, or for treating a heart or lung problem.
Taking care of your child
If your child has DMD, it does not mean that he will have to refrain from activities such as school, sports and spending time with friends. By sticking to the right treatment plan, you will be able to make your child active.
- Stand and walk: Being in an upright position will keep your child’s bones strong and the spine straight. You can get your child braces or standing walkers, which will help him in terms of balance and mobility.
- Eat right: Although there is no special diet for DMD, several food items should be taken for preventing problems related to weight. Your child should eat the proper amount of food with a proper balance of nutrients and calories regularly.
- Stay active: You should ensure that your child exercises regularly. Regular stretching exercises help in keeping the muscles and joints limber, which makes him feel better. You can avail the help of a physical therapist for an exercise schedule.
You can look for and join local support groups associated with DMD, as other families living with DMD can be a source of good advice and understanding about life with DMD. If you wish to discuss about any specific problem, you can ask a free question.