Down syndrome is a genetic condition that results when there is an extra copy of a specific chromosome, chromosome 21.
It is not an illness but a term that describes the features resulting from this change.
The extra chromosome can affect the physical features, intellect, and overall development of an individual.
It also increases the likelihood of some health problems.
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Down's Syndrome
What is Down syndrome?
Causes
Down syndrome happens when there is an extra copy of genetic material on all or part of the 21st chromosome.
Every cell in the body contains genes that are grouped along chromosomes in the cell's nucleus. There are normally 46 chromosomes in each cell, 23 inherited from the mother and 23 from the father.
When some or all of a person's cells have an extra full, or partial, copy of chromosome 21, the result is Down syndrome.
Every cell in the body contains genes that are grouped along chromosomes in the cell's nucleus. There are normally 46 chromosomes in each cell, 23 inherited from the mother and 23 from the father.
When some or all of a person's cells have an extra full, or partial, copy of chromosome 21, the result is Down syndrome.
Characteristics
People with Down syndrome often have distinct physical features, unique health issues, and variability in cognitive development.
Physical features
Physical characteristics include:
- eyes that have an upward slant, oblique fissures, epicanthic skin folds on the inner corner, and white spots on the iris
- low muscle tone
- small stature and short neck
- flat nasal bridge
- single, deep creases across the center of the palm
- protruding tongue
- large space between large and second toe
- a single flexion furrow of the fifth finger
Developmental delays
Individuals with Down syndrome usually have cognitive development profiles that suggest mild to moderate intellectual disability. However, cognitive development and intellectual ability are highly variable.
Children with Down syndrome often reach developmental milestones later than their peers.
There may be a delay in acquiring speech. A child may need speech therapy to help them gain expressive language.
Fine motor skills may also be delayed. They can take time to develop after gross motor skills have been acquired.
On average, a child with Down syndrome will:
Children with Down syndrome often reach developmental milestones later than their peers.
There may be a delay in acquiring speech. A child may need speech therapy to help them gain expressive language.
Fine motor skills may also be delayed. They can take time to develop after gross motor skills have been acquired.
On average, a child with Down syndrome will:
- sit at 11 months
- crawl at 17 months
- walk at 26 months
There may also be problems with attention, a tendency to make poor judgments, and impulsive behavior.
However, people with Down syndrome can attend school and become active, working members of the community.
However, people with Down syndrome can attend school and become active, working members of the community.
Health issues
Sometimes, there are general health problems that can affect any organ system or bodily function. Around half of all people with Down syndrome have a congenital heart defect.
There may also be a higher risk of:
There may also be a higher risk of:
- respiratory problems
- hearing difficulties
- Alzheimer's disease
- Childhood leukemia
- epilepsy
- thyroid conditions
However, there also appears to be a lower risk of hardening of the arteries, diabetic retinopathy, and most kinds of cancer.
Diagnosis
Women with a higher chance of having a child with Down syndrome may receive screening and diagnostic tests.
Screening tests can estimate the probability of Down syndrome being present. Some diagnostic tests can definitively tell whether the fetus has the condition.
Screening tests can estimate the probability of Down syndrome being present. Some diagnostic tests can definitively tell whether the fetus has the condition.
Screening tests
Women aged 30 to 35 years or older may receive genetic screening during pregnancy because the risk of having a child with Down syndrome increases as women age.
Screening tests include:
Screening tests include:
- Nuchal translucency testing: At 11 to 14 weeks, an ultrasound can measure the clear space in folds of tissue behind the neck of a developing baby.
- Triple screen or quadruple screen: At 15 to 18 weeks, this measures the quantities of various substances in the mother's blood.
- Integrated screen: This combines the results of first-trimester blood tests and screening tests, with or without nuchal translucency, with second-trimester quadruple screening results.
- Cell-free DNA: A blood test that analyzes fetal DNA found in the maternal blood.
- Genetic ultrasound: At 18 to 20 weeks, a detailed ultrasound is combined with blood test results.
Screening is a cost-effective and less invasive way to determine if more invasive diagnostic tests are needed. However, unlike diagnostic tests, they cannot confirm whether Down syndrome is present.
Diagnostic tests
Diagnostic tests are more accurate in detecting Down syndrome and other problems. They are usually performed inside the uterus, and they increase the risk of miscarriage, fetal injury, or preterm labor.
Diagnostic tests include:
Diagnostic tests include:
- Chorionic villus sampling: At 8 to 12 weeks, a tiny sample of placenta is obtained for analysis, using a needle inserted into the cervix or the abdomen.
- Amniocentesis: At 15 to 20 weeks, a small amount of amniotic fluid is obtained for analysis, using a needle inserted into the abdomen.
- Percutaneous umbilical blood sampling: After 20 weeks, a small sample of blood is taken from the umbilical cord for analysis, using a needle inserted into the abdomen.
Down syndrome can also be diagnosed after a baby is born by inspecting the infant's physical characteristics as well as blood and tissue.
Treatment
There is no specific treatment for Down syndrome.
People with the syndrome will receive care for health problems, just as other people do. However, additional health screening for common problems may be recommended.
Early intervention can help the individual maximize their potential and prepare them to take an active role in the community.
Apart from physicians, special educators, speech therapists, occupational therapists, physical therapists, and social workers can all help. The National Institute for Child Health and Human Development (NICHHD) urge all participants to provide stimulation and encouragement.
Children who have specific difficulties with learning and development may be eligible for educational support, either in a mainstream or specialized school. In recent years, the tendency has increasingly been to attend mainstream schools, often with additional support to help them integrate and progress.
Some children will have an Individualized Education Plan (IEP), supported by various specialists.
People with the syndrome will receive care for health problems, just as other people do. However, additional health screening for common problems may be recommended.
Early intervention can help the individual maximize their potential and prepare them to take an active role in the community.
Apart from physicians, special educators, speech therapists, occupational therapists, physical therapists, and social workers can all help. The National Institute for Child Health and Human Development (NICHHD) urge all participants to provide stimulation and encouragement.
Children who have specific difficulties with learning and development may be eligible for educational support, either in a mainstream or specialized school. In recent years, the tendency has increasingly been to attend mainstream schools, often with additional support to help them integrate and progress.
Some children will have an Individualized Education Plan (IEP), supported by various specialists.
Types
The most common form of Down syndrome is known as trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46.
Trisomy 21 is caused by an error in cell division called nondisjunction. This leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. This variant accounts for 95 percent of Down syndrome cases.
The remaining 5 percent of Down syndrome cases are due to conditions called mosaicism and translocation.
Mosaic Down syndrome results when some cells in the body are normal while others have Trisomy 21.
Robertsonian translocation occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome, usually chromosome 14. The presence of this extra part of chromosome 21 causes some Down syndrome characteristics.
A person with a translocation does not have any special physical features, but they are more likely to have a child with an extra 21st chromosome.<
Trisomy 21 is caused by an error in cell division called nondisjunction. This leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. This variant accounts for 95 percent of Down syndrome cases.
The remaining 5 percent of Down syndrome cases are due to conditions called mosaicism and translocation.
Mosaic Down syndrome results when some cells in the body are normal while others have Trisomy 21.
Robertsonian translocation occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome, usually chromosome 14. The presence of this extra part of chromosome 21 causes some Down syndrome characteristics.
A person with a translocation does not have any special physical features, but they are more likely to have a child with an extra 21st chromosome.<
Outlook
A person with Down syndrome will be able to do many of the things that other people do. Children may take longer to acquire skills such as walking and talking, but with stimulation, they can acquire key life skills and attend school and, in some cases, college.
Depending on how the syndrome affects the individual, it is often possible for someone to work and to live semi-independently with Down syndrome.
Like anyone else, people with Down syndrome need friendships and relationships. Some will live with a partner or get married, and have an independent life. However, it is worth bearing in mind that if one partner has Down syndrome, there is a 30 to 50 percent chance that any children will too.
Average life expectancy is around 60 years, and many people with Down syndrome now live into their 70s.
Depending on how the syndrome affects the individual, it is often possible for someone to work and to live semi-independently with Down syndrome.
Like anyone else, people with Down syndrome need friendships and relationships. Some will live with a partner or get married, and have an independent life. However, it is worth bearing in mind that if one partner has Down syndrome, there is a 30 to 50 percent chance that any children will too.
Average life expectancy is around 60 years, and many people with Down syndrome now live into their 70s.
We proudly Thanks to m/s: medicalnewstoday.com
To give this useful articles to know about the Down's Syndrome
To give this useful articles to know about the Down's Syndrome
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6 days ago
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6 days ago
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6 days ago
எனது குழந்தையின் பெயர் N.மகிழன் நான் நடக்க இயலாமலும் பேச்சு திறன் இல்லாமலும் பிரைட் தெரபியில் சேர்த்து தற்பொழுது 1வருடம் ஆகிறது . தற்போது நன்றாக நடக்கிறார் ஒரளவு பேச்சு வந்தது விட்டது.எனது கணவரின் இடமாற்றம் காரணமாக அங்கு தொடர வாய்பில்லாமல் போய்விட்டது. பிரைட் நிறுவனத்திற்கு மிகவும் கடமை பட்டு இருக்கின்றேன்.நன்றி
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7 days ago
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7 days ago
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7 days ago
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1 week ago
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1 week ago
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1 week ago
Bright children stands out for its holistic approach to education.the school's and centre curriculum is centered to meet the unique needs of each child.and staffs are passionate about helping kids.the facilities could be improved,but the school's commitment to inclusivity and diversity is inspiring.I highly recommend this special school and centre to all.
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1 week ago
In this educational and therapy centre and school the variety of therapies offered such as occupational, speech therapy , ABA therapy, behavioural therapy have made a huge difference in my child's development just in 6 months. I thank to all therapists and caring lovely staffs and especially sir ( Sathish Babu ) very much.
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2 weeks ago
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2 weeks ago
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2 weeks ago
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4 weeks ago
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4 weeks ago
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16 August 2023
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11 July 2023
Right place to see improvements in ASD kids
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11 July 2023
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11 July 2023
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USHA RANI
10 July 2023
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ABDUL KHAN S
10 July 2023
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leka bhavani
10 July 2023
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9 July 2023
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9 July 2023
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S Karthik
9 July 2023
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Dr. KCh. Rajachenguttuvenn K. Chandrasekaran
9 July 2023
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9 July 2023
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9 July 2023
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9 July 2023
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9 July 2023
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9 July 2023
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9 July 2023
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9 July 2023
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9 July 2023
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8 July 2023
Best School in Madurai. They give all the necessary training to the children and make the students excel in it.
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8 July 2023
Service is excellent. Staff members are caring and committed to the well-being and growth of their students. Their passion for education was evident, and it created an encouraging and nurturing environment. The facilities are specifically designed to serve unique needs of the students. The classrooms are well-equipped, and thoughtfully arranged to ensure an optimal learning experience. It was evident that they took the time to know each student individually, tailoring their teaching methods to accommodate their specific strengths and challenges.
K M
8 July 2023
Wonderful place for kids who is affected by Autism spectrum disorder. Well trained therapist and strict management which is what we needed to achieve our goal in developing kids from ASD.
I have a 4 year old son diagnosed with ASD, I joined him at Bright children special school about an year ago, I could see him with lot of improvements over the past year and I have a hope that he will be at mainstream school in an year or so. Bright children school has US based 1 on 1 therapy session which will help to understand kids specific needs and area of improvement. They have a process of set up monthly goal and working towards that.
I strongly recommend Bright children school to parents who is looking for good therapy center for their autistic kids.
I have a 4 year old son diagnosed with ASD, I joined him at Bright children special school about an year ago, I could see him with lot of improvements over the past year and I have a hope that he will be at mainstream school in an year or so. Bright children school has US based 1 on 1 therapy session which will help to understand kids specific needs and area of improvement. They have a process of set up monthly goal and working towards that.
I strongly recommend Bright children school to parents who is looking for good therapy center for their autistic kids.
Guide Muthu
8 July 2023
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ARAFA Health Care
7 July 2023
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Ramarethinam .k
25 June 2023
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24 June 2023
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Durgadevi Ravichandran S.R
24 June 2023
A amazing school out standing every way. My daughter was supported by the dedicated staff to enable him to teach his full potential .I would recommend bright school to any one. A top class special school
Bhuvana Ramanathan
24 June 2023
Lovely school and lovely staff who seek to provide endless possibilities for all ensure that the pupils flourish and develop the best that they possibly can!
Shalini Sinagravel
24 June 2023
Not just a special school but a family the care and attention given to the children.Hard working honest and friendly bright school really is a special place.
Padi Selvi
24 June 2023
My son has just finished bright special school and this year joined normal school they have done an amazing job giving him the best start possible I cannot thank then enough. The teaching staff are fantastic both loving and truly talented. Keep up the good work and a massive thank.
vairavel mahilan
22 June 2023
Non profit organisation....with almost dedication and caring...Excellent training centre.🙏
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8 June 2023
The best
Mohamed Ali
8 June 2023
Good coaching. Appreciate all the teachers for giving individual care
Nagendran Ganeshan
3 June 2023
This is one of the best therapy Center in Madurai and seen good improvement for my daughter.. appreciating all their staffs for taking care our daughter
Karthika R
30 May 2023
Completely satisfied with their service....
Music World
30 May 2023
Feeling positivity in this place . God bless these children always
Karthigai Selvan
29 May 2023
Good job. Keeping Rocking. Thank you.
MS Madhavan
29 May 2023
super therapy centre , nice staffes
meenaelangovan 2019
29 May 2023
They set individual goal for each therapy very good class arrangements
Bala murugesh
29 May 2023
Mulaikada vidayum mulaika vaikirargal
KKV VI A Harini.R
7 April 2023
The best school for special children. They are treating well the student. Good improvement in the child condition
MR Rengaraju
19 January 2023
Best place ever for special childrens
MARGARET FATIMA RANI AUGUSTIN
8 February 2022
A place where children are treated with dignity. Motherly care is given. Therapies are effective and helps the child's progress. Highly recommended.
gautham balaji
3 August 2021
A good community with professional instructors and caretakers.Much suitable place for blessed specials.
Sayee Sri
3 August 2021
Special care is given for each and every kid individually
Srividya Dachepalli
2 August 2021
Good school for overall development of the kids with special needs and schooling.
Thilaga Pandis
2 August 2021
Very good care and therapy
Rengaraju RajaDhanaSekar
2 August 2021
Good Service For Special Childrens
digambar mane
2 August 2021
Best school autism children treatment
Ajith Kumar
2 August 2021
Great Team Excellent Service Needed For Children. 😀😀😀😀😀 Carry on Your Great Service Good Care of Special Children 👍
Jeba Shanthi
19 September 2020
Excellent
Baby coder T
9 September 2020
The best.
Mahadass Saisanjay
5 September 2020
Just as their name suggests, they work together in helping the special children shine bright in day-to-day activities. They have a specialised skilled team giving good attention to each and every kid, working towards the progress of that kid.
SRC - The Source
4 September 2020
Centre is putting sincere efforts in the development of the special kids.
Keerthana Ashok
3 September 2020
A dedicated team of people taking good care of special children
Veerameena R
25 November 2019
Good Service For Autism Children
vibu gokul
26 September 2019
Good Service And Special Care for autism child
kalai chelvi
26 September 2019
Good Service
nava meena
26 September 2019
Good Service And Special Care For Special Kids
Deepak
26 September 2019
Good Service and Special Care for Special Child
esther antony
26 September 2019
Good For Special Kids
Shalini Muthiah
4 May 2019
Good
Sureshbabu Srinivasan
4 May 2019
I knew Mr Satish since 2004. Visited the school on few occasions. Could sense the dedicated efforts of the team there. Wishing all of them the very best and thanking for thier services
Bala Murugan
9 November 2018
Good . . .