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Second (Mid) Trimester Risk Assessment (Weeks 14 - 20) Health Feed

31 years old female with 8 weeks pregnancy a previous child having trisomy 21 down syndrome. Should I go for NIPT or amniocentesis to confirm if this pregnancy is okay!

Pediatrician, Allahabad
31 years old female with 8 weeks pregnancy a previous child having trisomy 21 down syndrome.
Should I go for NIPT or ...
Definately. U should go for amniocentesis. This is the right time to do it. Since chance of having down syndrome is quite high in this pregnancy. If you want more information on it kindly consult via private mode. Thank you.
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Hello Sir, My son has down syndrome from birth, due to this problem his growth of body and mind is law, now how is 9 year old. Before 2-3 years he is suffering from that I concern child specialist, he suggest me valparin syrup (7 ml 2 times) for 3 years. But problem is increase, what to do? Kindly suggest me for that.

Bachelor of Naturopathy & Yogic Sciences (BNYS), M.sc in yoga and naturopathy, Bachelor of Ayurveda, Medicine and Surgery (BAMS), Bachelor of Physiotherapy
Ayurveda, Delhi
Hi Lybrate user, Since Down syndrome is genetic in origin, there is no known cure. While the root cause of the disease cannot be treated, there are several therapies that can be used to treat the various symptoms that are associated with Down syndrome Mental retardation, the most universal symptom associated with Down syndrome, can be treated using ayurvedic drugs so in ayurveda we have treatments for mental retardation, treatment for dysfunction and depletion, strengthening and calming the mind. With the above, we have panchakarma therapy, meditation, pranayam, diet and mantra and rasayana therapy. You can privately chat with us for more information.
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What Conditions Can Be Treated With Pediatrics?

BPTh/BPT, MPT
Physiotherapist, Pune
What Conditions Can Be Treated With Pediatrics?
What conditions can be treated with pediatric PT?

Cerebral Palsy, Autism, Down Syndrome, Muscular Dystrophy and associated disorders, Spina Bifida, Juvenile Rheumatoid Arthritis, Arthrogyposis, Cardio-Pulmonary Disorders, Cystic Fibrosis, Cancer,and Traumatic Brain Injury. In addition, many children present with hypotonia and developmental coordination disorder without a formal diagnosis. Orthopedic conditions - scoliosis, back pain, sports injuries, fractures, and orthopedic surgeries.

What is the pediatric PT srole?

Pediatric physical therapist evaluates and provides treatment for delays in motor skills by developing the strength and range of motion that children need to move easily and effectively. In addition to assessment of flexibility, strength, posture, gait, sensory processing, balance,coordination and skill.Long-term goal - Gross motor skill development solid to age with good quality to both sides of the body.

Despite variations depending on the child, neuro motor development stages occur in a specific order in the first years of life.
The order of a normal motor development for an infant is:
At 3 months old baby should be able to:Raise the head while on the stomach
Open and close the hands Bring the hand to the mouth Catch and shake objects at hand reach
At 4 to 7 months -Baby learns to:Roll back on the belly on both sidesTo pull himself to sit down Keep sitting with the support of his hands forward
At 8 to 12 months she should be able to:Sit down still unaidedCrawlUse his hands when topples forward or sidewaysCrawlHold stand upMove from one position to anotherWalk aided by holding on to objects or when moving objectsOf course, depending on the child s abilities, these learning stages may vary by a few months, but it is important to stimulate -and yet not over-stimulate the baby- with the help of games, educational hugs and massages to guide your child towards a proper development.

If your baby does not have any neurological disorder but you have doubts about her/him progress, our specialist will do a complete assessment and give you all the appropriate advices to monitor and guide your baby s progression.
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I have down syndrome with trisomy 14/21, can tell me risk about these. One baby is died after 28 days she is positive in down syndrome. Again when I was conceived the chrosome test is done and it is again positive .please help me.

MBBS
General Physician, Mumbai
I have down syndrome with trisomy 14/21, can tell me risk about these. One baby is died after 28 days she is positive...
Its a genetic defect and nothing can be done to cure it but I will suggest you to accept whatever it is and even the child can live longer
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Down Syndrome - How It Should Be Dealt With?

MBBS, MD-Pediatrics, DM - Medical Genetics
Geneticist, Gurgaon
Down Syndrome - How It Should Be Dealt With?
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.
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Act wanted to ask about down syndrome. I am pregnant 5 months down according to quadruple test it tell my fetus is affected by down syndrome that's at low risk what should I do. Please guide me.

MD Pediatric
Pediatrician, Mumbai
Hi As the test result says, there is lower chances of your baby getting affected by Down's syndrome. But these tests doesn't have 100 percent detection rate so best result that they can give is low risk. So relax and follow up with your gynaecologist regularly. Best wishes.
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What is down syndrome. Please risk of 1: 232?how grave the risk for a 28 year woman?

Master of Occupational Therapy (MOT), PG Diploma in Hospital Management, Bachelor in Occupational Therapy, CAS - Certified Autism Specialist, Sensory Enrichment Therapy, Early Childhood Special education, Drama Therapy
Occupational Therapist, Bangalore
What is down syndrome. Please risk of 1: 232?how grave the risk for a 28 year woman?
Its a genetic disorder. Risk is higher as maternal age is higher. But you need not worry about it. There is anomaly scan done in 5th month of pregnancy to rule out the presence of any disorder in fetus.
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Hello I am 17 years old. I am very feared that I have Klinefelter syndrome though I have never visited a doctor. My height is 5.11 and weight 78 kgs. I do not have facial hair just a light moustache and female like pubic hair with erect penis length 5 inch. Please help.

C.S.C, D.C.H, M.B.B.S
General Physician, Alappuzha
Hello I am 17 years old. I am very feared that I have Klinefelter syndrome though I have never visited a doctor. My h...
Klinefelter's syndrome isn't inherited, but rather occurs only as a result of a random genetic error after conception. Males born with Klinefelter's syndrome may have low testosterone and reduced muscle mass, facial hair and body hair. Most males with this condition produce little or no sperm. Treatment may include testosterone replacement and fertility treatment.
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How to Deal with Stress of Raising a Child with Special Needs?

MBBS
Sexologist, Jammu
How to Deal with Stress of Raising a Child with Special Needs?
Parenting in the recent past has become extremely stressful than what it used to be a couple of generations earlier. This stress has increased manifold if the child has special needs. Be it a physical or an emotional disability, the caretaker has a lot of additional responsibilities when raising a child with special needs. Also bringing up such a child is extremely rewarding in the long run, when you see them accomplish things in life, for which your contribution is far greater than in normal children.

Read on to for some guidance on how to manage a child with special need.

Understand the problem your child is facing: The problem may become evident prenatally, at birth, or sometimes it will reveal itself as the child grows up. Whatever the case, once identified, understand the various issues it brings along. This is true especially in case of syndromes like Down's or learning disabilities, which have more implications. Review the medical history thoroughly with the doctor to understand the child better and play your role better.
Supportive community: There are a lot of supportive communities, which will consist of similar people and so a lot of mutual support and help would be available. The emotional components of empathy and sympathy play an equally important role here.
Let s face it: Caring for such a child is an ongoing process. The sooner this fact is accepted, the easier the journey will be. The children need to be reassured that they are not alone, they are differently perfect, they need to forgive themselves, to not be hard on themselves, and not to lose heart. The parent and the caretakers also need to realize that it is like a never-ending marathon and bracing up for this long haul is very important. There might be times when mistakes happen, tough decisions are taken, and you have to be hard on the child and yourself. However, don t lose heart and encourage both the child and yourself. It is okay for these slips to happen, just accept them.
Live for today: On a daily basis, forgive small wrongs both for your child and yourself. Trust your instincts, celebrate the little wins, don t compare your child to anybody else, and protect him from getting bullied. The child needs to be told that you are unique and special and to set your own pace and compete against yourself. Work on your sense of humor and get professional help for both the child s needs and your additional responsibilities.
While the stress of caring for a child with special needs is quite high, these are very small and simple ways to deal with the stress of raising a child with special needs.
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