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My son has down syndrome, and he is not gaining weight, hardly 50-60 gms per month though his diet is fair. I try to give him good varied diet but still unable to, his muscles are weak.
Can you please help in interpreting Perkin Elmer & NT Scan Test results. Down Syndrome Final Risk- 1: 55129. Edwards' Syndrome Final Risk-1: 10. Patau's Syndrome Final Risk-1: 10.
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.
Here are reasons, effects, screening and diagnosis of down's syndrome in children
My sisters double marker shows positive. Downs syndrome 1: 198 possibility. She is 29 years old. Doctors have told her to undergo CVS and amniocentesis tests. All other features of the foetus are normal. Please suggest if the baby would be normal or there is 50-50 chances of downs syndrome. Nobody else in the family has this. 2 months aho she had a spontaneous miscarriage plus she has hypothyroid which is normal now. She is now four months pregnant.
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!