Trisomy 21 – Nova Scotia Down Syndrome Society http://www.novascotiadownsyndromesociety.com/ Mon, 11 Oct 2021 18:07:46 +0000 en-US hourly 1 https://wordpress.org/?v=5.8 https://www.novascotiadownsyndromesociety.com/wp-content/uploads/2021/07/icon-2021-07-30T230350.091.png Trisomy 21 – Nova Scotia Down Syndrome Society http://www.novascotiadownsyndromesociety.com/ 32 32 The heartbreaking story of the loss of Carshalton’s mother https://www.novascotiadownsyndromesociety.com/the-heartbreaking-story-of-the-loss-of-carshaltons-mother/ Mon, 11 Oct 2021 12:40:35 +0000 https://www.novascotiadownsyndromesociety.com/the-heartbreaking-story-of-the-loss-of-carshaltons-mother/ The mother of a baby girl born with a rare genetic condition has shared details of how little time she spent with her daughter for Baby Loss Awareness Week (October 9-15). Jodie Worsfold, 33, from Carshalton, had baby Margot in the summer of 2020. Margot was quickly diagnosed with Edwards syndrome – a rare and […]]]>

The mother of a baby girl born with a rare genetic condition has shared details of how little time she spent with her daughter for Baby Loss Awareness Week (October 9-15).

Jodie Worsfold, 33, from Carshalton, had baby Margot in the summer of 2020.

Margot was quickly diagnosed with Edwards syndrome – a rare and life-limiting condition – and lived for seven weeks.

Syndrome-related trisomies 13 and 18 are genetic disorders that affect each child differently. However, survival rates are low, and while some children survive longer, many babies do not live past their first birthday.

Moving photographs of Jodie and Margot taken by Ceridwen Hughes are now featured in an exhibition called You Are Not Alone jointly funded by the National Lottery Community Fund and Illumina, a world leader in DNA sequencing.

In partnership with the Hughes-founded organization called Same but Different, You Are Not Alone was launched this week for Baby Loss Awareness Week to help highlight the impacts of infant mortality and call for a discussion. more open to greater support for affected parents.

Jodie described how no diagnosis was given until Margot was born, with her first four weeks of life spent in the NICU, before she was finally allowed to return home where she died peacefully under care of the hospice.

Jodie said of her first visit to the neonatal intensive care unit to see her baby: “At no point did anyone say, ‘She’s your lovely daughter. Do you want to hold it? We were left alone and in shock.

“Jamie and I couldn’t be together at the incubator because of Covid, which was really traumatic and distressing. It was her welcome to the world,” she said.

Hughes said the photo project was also meant to encourage the importance of talking about loss and grief, and celebrating the lives of babies who have only lived a short time.

To that end, Jodie shared more details about her story in hopes of furthering this discussion.

“Coming home, leaving without a baby is not normal,” she said. “It was so hard to leave her. I remember falling asleep crying, with that baby belly deflated, but she wasn’t in her bed next to me either. I had checked the website. from SOFT and read the blog of a mother whose daughter is almost 5 years old. I was like “there is hope, she survived the birth and we are going to take her home.” She died on September 4th and we buried her a week later. At first it was intense heartache and shock. In the new year I was feeling quite optimistic, thinking I was handling it well, but it tumbles down and comes back to the most unexpected moments. ”

Losing a baby sometimes feels like a whispered secret, ”Hughes said of his exposure.

“No one knows what to say to a grieving parent and often people are too afraid to even say the child’s name for fear of upsetting them even more and yet the parents I have spoken to yearn to remember and celebrate their child’s life, no matter how short their life is. This short film and exhibit was created to encourage dialogue and remind people that no matter how lonely their journey is, there are people who understand. ”

To learn more about the exhibition and the short film directed by Hughes, click here.

To learn more about the National Lottery support for various causes across the UK, click here.

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Chris Nikic takes on 2 marathons this fall, inspiring the Down’s syndrome community and beyond https://www.novascotiadownsyndromesociety.com/chris-nikic-takes-on-2-marathons-this-fall-inspiring-the-downs-syndrome-community-and-beyond/ Sat, 09 Oct 2021 02:33:24 +0000 https://www.novascotiadownsyndromesociety.com/chris-nikic-takes-on-2-marathons-this-fall-inspiring-the-downs-syndrome-community-and-beyond/ PANAMA CITY BEACH, FLORIDA – NOVEMBER 07: Chris Nikic and his guide Dan Grieb cross the finish line of IRONMAN Florida on November 07, 2020 in Panama City Beach, Florida. Chris Nikic became Ironman’s first finisher with Down syndrome. (Photo by Michael Reaves / Getty Images for IRONMAN) You may know Chris Nikic as the […]]]>

PANAMA CITY BEACH, FLORIDA – NOVEMBER 07: Chris Nikic and his guide Dan Grieb cross the finish line of IRONMAN Florida on November 07, 2020 in Panama City Beach, Florida. Chris Nikic became Ironman’s first finisher with Down syndrome. (Photo by Michael Reaves / Getty Images for IRONMAN)

You may know Chris Nikic as the first person with Down’s syndrome to complete an Ironman, which he did last November; or the recipient of the Jimmy V Award at ESPY 2021; or, and more recently, the co-author of 1% better: reaching my full potential and how you can too. Some people know him simply as Chris, the always-smiling 22-year-old athlete who loves (and I mean love) Chipotle.

When POPSUGAR sat down for a video call with Nikic and his father, Nik, in August, Nikic was preparing for the 2021 Ironman World Championship as well as the New York Marathon. The first of two, in St. George, UT, has been postponed from this month until next May, due to the COVID-19 pandemic, and Nikic is now training for the Boston Marathon on October 11 and the New York Marathon on November 7. In addition to the postponed 2021 Championship, the 2022 Ironman World Championship is scheduled to take place in Kailua-Kona, HI, next October. According to an Ironman spokesperson, “the process of selecting athletes to choose which event they will participate in is underway,” and Nikic has yet to make an official decision.

With all the recognition Nikic has received in the past year alone, he wants other people with Down syndrome to believe that they too can strive to achieve whatever they are putting their energy into. This is where his motto “1% better” comes from: work slowly and with persistence until you get better, one percent at a time, one percent at a time.

Nikic is looking forward to these marathons – running is his favorite part of triathlons – but he is also very excited for the post-race celebrations. (In his mind, that will include “clubbing and drinking champagne” plus Chipotle, and we don’t blame him!) “Chris Nikic is coming to town.” Can we also suggest “Chris, you have this!” with a burrito bowl designed for good measure.

In the New York Marathon in particular, he will run alongside a team from the nonprofit KultureCity, in which one of his good friends with autism, Rachel Barcellona, ​​is involved. He wants to support her and others like her. The charity focuses on “sensory accessibility and inclusion of people with invisible disabilities” such as autism, PTSD and dementia.

Related: Amy Bockerstette Is The First Athlete With Down Syndrome To Compete In A National College Championship

Nikic aims to finish a marathon in 3 hours and 21 minutes (he first said Men’s health that this summer); 3:21 represents the extra copy of chromosome 21, called trisomy 21 – three separate copies of chromosome 21 instead of two – that causes 95 percent of cases of Down syndrome. His father says that while it’s an ambitious goal for this year’s marathon season, it might be achievable next year.

“We want the kids to really admire me,” Nikic said, adding, “not only do I do the job, but I do it for the kids.” He wants to eventually open his own gym, where athletes, whatever their level, can come and train. He aims to teach them his “1% system”, to continue to “spread the word” and to inspire “the entire Down syndrome community behind the scenes.”

Nik pointed out that following Nikic’s historic Ironman competition, Nikic and his teammates from the Special Olympics Florida unified triathlon team were invited to the 2022 US Special Olympics. They are the first team to receive an award. invitation to participate in these Games, and Nik noted that the group is made up of about 80 percent of people with autism and about 20 percent of people with Down syndrome. “These are 20 young people who would never have had the opportunity to do what they do and experience something like the USA Games,” said Nik.

“He pushed me to think bigger. To broaden my thinking beyond what I thought was possible.”

Nik witnessed his son’s growing influence with every race, public speaking and interview opportunity, and he said Nikic taught him “that we are aiming too low.” That we need to believe more in ourselves and in our abilities to do more. He continued, “And he pushed me to think bigger, to broaden my thinking beyond what I thought possible, because you can’t watch him make the kind of breakthroughs he’s making and the the way he works and the way he does everything. . . . you can’t do that without looking at yourself and saying, “What more can I do? “”

Nik describes Nikic as someone who sets an example “and creates an opportunity for others to follow so that they can realize their potential”. It is through this example, said Nik, that his son “can inspire others like him, but he can also inspire others like me and you.”

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A stem cell project to create a new model to study brain development and Down syndrome https://www.novascotiadownsyndromesociety.com/a-stem-cell-project-to-create-a-new-model-to-study-brain-development-and-down-syndrome/ Thu, 07 Oct 2021 22:06:56 +0000 https://www.novascotiadownsyndromesociety.com/a-stem-cell-project-to-create-a-new-model-to-study-brain-development-and-down-syndrome/ Researchers at the University of Wisconsin-Madison Waisman Center are creating a new approach to study how changes in brain development in the womb cause intellectual disability in people with Down syndrome. Their efforts, funded by an $ 11 million transformative research grant from the National Institutes of Health, could also reveal how brain development in […]]]>

Researchers at the University of Wisconsin-Madison Waisman Center are creating a new approach to study how changes in brain development in the womb cause intellectual disability in people with Down syndrome.

Their efforts, funded by an $ 11 million transformative research grant from the National Institutes of Health, could also reveal how brain development in people with Down syndrome differs from that in normally developing people, identifying characteristics who will help understand their intellectual disability and find potential targets for therapy. They will also address unanswered questions about brain development in general.

“Although Down syndrome is quite common and we know a lot about people with Down syndrome – their characteristics, their characteristics; we even know they will develop Alzheimer’s disease – what we don’t fully understand is how brain development in Down syndrome is different, ”says Anita Bhattacharyya, professor of cell and regenerative biology. “We have surprisingly little information on this.”

Bhattacharyya, his colleague at Waisman and professor of neuroscience and neurology at the UW School of Medicine and Public Health Su-Chun Zhang, and other collaborators at Waisman and the University of Washington-Seattle and the Hospital for children of Seattle, will develop a research model based on human-induced pluripotent stem cells (iPSC). Researchers say current animal models used to study the syndrome do not mimic the disorder well.

Waisman Center researchers Daifeng Wang, Anita Bhattacharyya, Su-Chun Zhang, and André Sousa are leading a new effort funded by an $ 11 million NIH grant to develop a model of brain development in Down syndrome that relies on stem cells. Courtesy of the Waisman Center

Human-induced pluripotent stem cells come from adult skin or blood cells that are reprogrammed to become virtually any other type of cell, like neurons, a type of brain cell. Using iPSCs from people with Down syndrome, researchers can turn them into neurons in the cerebral cortex – part of the brain that makes humans, humans – and study which developmental pathways are disrupted.

Down syndrome, also known as trisomy 21, is caused by an extra – or third – copy of chromosome 21. It is the most common genetic cause of intellectual disability and affects approximately 6 million people worldwide. .

With limited ability to access prenatal brain tissue to study development, Bhattacharyya hopes to compare his stem cells directly to prenatal tissue, verify that iPSCs are a suitable model, and confidently move forward with them without the need for additional tissue.

Researchers plan to build an atlas of the prenatal cortex in Down syndrome. They will identify the specific types of neurons, synapses, and molecular pathways that are altered in Down syndrome, particularly during prenatal development and immediately after birth.

“The atlas will give us a roadmap of what goes on in prenatal brain development in Down syndrome,” says Bhattacharyya.

After determining these changes, they will use iPSCs derived from individuals with Down syndrome to determine whether the stem cells mimic the differences seen in the prenatal brain.

“The model is only good if it recaps or mimics what is really going on,” Bhattacharyya explains.

“Although Down syndrome is quite common and we know a lot about people with Down syndrome… what we don’t fully understand is how brain development in Down syndrome is different. “

Anita Bhattacharyya

So far, early results show that iPSC-derived cells recapitulate some of the changes seen in the adult brains of people with Down syndrome, such as the types of neurons missing. These results give researchers confidence that their model will exhibit more of these characteristics.

Additionally, Zhang’s lab will examine how neurons in people with Down syndrome may function differently. Previous data from Zhang and Bhattacharyya suggests that the neurons of people with Down syndrome are not as active as those of people without the disorder, and the project will extend these findings by exploring the causes of this reduced activity.

“This is my dream project,” says Bhattacharyya, “and it took 15 years to make it happen because many things had to happen. First, we had to get the right people together to do this kind of project. “

The work will be carried out in collaboration with new researchers from the Waisman Center Daifeng Wang, professor of biostatistics and medical informatics and informatics, and André Sousa, professor of neurosciences. Sousa brings unique cell sequencing expertise to human brain development and Wang will bring valuable computer skills, Bhattacharyya said.

The five-year grant is part of NIH’s high-risk, high-return research program, which supports exceptionally innovative or unconventional research projects with the potential to advance their field.

The research is funded by grant 1R01HD106197-01 from the National Institute for Child Health and Human Development.

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Bangor Buddy Walk planned to promote acceptance and inclusion of Down syndrome https://www.novascotiadownsyndromesociety.com/bangor-buddy-walk-planned-to-promote-acceptance-and-inclusion-of-down-syndrome/ Tue, 05 Oct 2021 23:53:00 +0000 https://www.novascotiadownsyndromesociety.com/bangor-buddy-walk-planned-to-promote-acceptance-and-inclusion-of-down-syndrome/ BANGOR, Maine (WABI) – October is National Down Syndrome Awareness Month. In honor of the occasion, a group of local moms are hosting a Buddy Walk this weekend. The National Buddy Walk Program was started in the 1990s with the goal of promoting acceptance and inclusion of people with Down syndrome. “When we found out […]]]>

BANGOR, Maine (WABI) – October is National Down Syndrome Awareness Month. In honor of the occasion, a group of local moms are hosting a Buddy Walk this weekend.

The National Buddy Walk Program was started in the 1990s with the goal of promoting acceptance and inclusion of people with Down syndrome.

“When we found out we had Brielle they told us we had a 5% chance of her coming out with Down syndrome, but they ruled her out,” said Shelley Sargent, Brielle’s mother. “Once we got it, surprise! We have a beautiful little girl with Down’s syndrome.

Getting her daughter’s diagnosis was a moving experience for Sargent.

“I know when I heard the news you were a little sad. You’re heartbroken and you don’t even know who to turn to or where to look, ”Sargent said. “It helps to talk to other parents, other moms to know that we are not alone and that what we are facing is going well. “

Sargent is one of half a dozen mothers in eastern Maine who logged in through Facebook. They call themselves T21 Moms, after Down’s syndrome, another name for Down syndrome.

“One of the mothers also has a child who was in the NICU at the same time as Francesca,” said Elise DelMonaco, Francesca’s mother. “We connected that way and she reached out one day and said, ‘Would you be interested in getting together with other moms who have kids with Down syndrome and maybe we can, you know, connect us and help each other and navigate this journey? ‘ And from there it’s kind of exploded, in a good way.

A few months ago, they started meeting for play dates and other face-to-face meetings. They celebrate each other’s victories, while supporting each other and offering guidance in difficult times.

“This group, we have a few different challenges and I think sometimes it’s just to know that you’re still on the right track and that it’s okay. Everything will be fine no matter what you come across, ”said DelMonaco. “You can reach out and have a network there.”

In order to reach even more families, they organize a Buddy Walk in Bangor. They hope this will help provide information and a support system that was not immediately available to them.

It is scheduled for Saturday October 9 at 11:00 am at the Bangor Waterfront.

“We have activities planned for the start of the walk, so it’s not just a walk,” said Erin Hatch, Maddox’s mom. “There are therapists arriving, sign language interpreters who have got their hands on it. We have a lot of people who have come together to support us.

“Come on! Come and join us. Support us. See them, meet them and you won’t regret it,” Sargent said.

The route is what they call “a little extra 5K”. It’s a 3.21 mile loop that circles the community – and their kids.

“My boy brings so much joy to our family every day, and we are so grateful to him,” Hatch said. “We would never swap his extra chromosome.”

“Heads up. We’ve got you. We’re here to support you, and they are wonderful children with a great future ahead of them,” Sargent said.

Hatch says they already have 130 people registered for the event, which will also include pumpkin painting and lunch. This participation would far exceed their expectations.

For more information or to register, visit their website: https://runsignup.com/Race/ME/Bangor/BangorBuddyWalk?fbclid=IwAR1IenUCev915epBb51CtDmhfwKD9z_gz1bW-xaG2mEI3nJ0YONL9a7HH3nJ0YONL9a7H.

Copyright 2021 WABI. All rights reserved.

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October is National Down’s Syndrome Awareness Month https://www.novascotiadownsyndromesociety.com/october-is-national-downs-syndrome-awareness-month-2/ Tue, 05 Oct 2021 06:03:18 +0000 https://www.novascotiadownsyndromesociety.com/october-is-national-downs-syndrome-awareness-month-2/ October marks Down’s Syndrome Awareness Month and it’s a time to celebrate people with Down’s syndrome and educate others about their abilities and achievements.Down syndrome is one of the most common genetic diseases caused by an extra copy of chromosome 21, known as trisomy 21.This extra chromosome alters the cause of development both physically and […]]]>

October marks Down’s Syndrome Awareness Month and it’s a time to celebrate people with Down’s syndrome and educate others about their abilities and achievements.
Down syndrome is one of the most common genetic diseases caused by an extra copy of chromosome 21, known as trisomy 21.
This extra chromosome alters the cause of development both physically and cognitively.
So it’s no surprise that every October we recognize Down Syndrome Awareness Month to raise awareness of the disease and advocate for acceptance and full inclusion in society.
This year, Down Syndrome South Africa (DSSA) and its associations are calling on South Africans to connect through kindness.

Also read: Breast cancer awareness

Isolation has become the new normal because of the pandemic.
DSSA believes that the random acts of kindness from Covid-19 may be just what you need to rebuild the spirits of your families, friends, and communities.
Through this year’s theme, we can see that no act of kindness, no matter how small, is ever wasted.
So in October embrace cuteness with concepts like empathy, gentleness, friendship, stewardship, love, and giving. Kindness can create a positive feedback loop during these difficult and trying times.
Former President Nelson Mandela declared October 20 National Down Syndrome Day in South Africa. In the spirit of celebrating the month, DSSA calls on individuals, businesses, organizations and other entities to give a little and help a lot.
Due to Covid-19, DSSA and its members across the country will be holding limited outreach activities to celebrate National Down Syndrome Day.
These awareness events play an important role in positive changes in attitudes towards people with Down’s Syndrome and other intellectual disabilities.

Read also: The actors of the theater sensitize the school of Tsakani to albinism

How to make a difference and support?
Donate your time for a good cause, offer a food basket to a family in need, sponsor a gift certificate, donate your unused clothes to a daycare center.
You can also wear your jeans and purchase a “Perfect Just Down Right Awareness Sticker” for R20 in recognition of this National Awareness Day.
All funds raised through this initiative will be used to support families in local support groups in disadvantaged areas.

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October is National Down’s Syndrome Awareness Month https://www.novascotiadownsyndromesociety.com/october-is-national-downs-syndrome-awareness-month/ Mon, 04 Oct 2021 06:44:09 +0000 https://www.novascotiadownsyndromesociety.com/october-is-national-downs-syndrome-awareness-month/ October marks Down’s Syndrome Awareness Month and it’s a time to celebrate people with Down’s syndrome and educate others about their abilities and achievements. Down syndrome is one of the most common genetic diseases caused by an extra copy of chromosome 21, known as trisomy 21. This extra chromosome alters the cause of development both […]]]>

October marks Down’s Syndrome Awareness Month and it’s a time to celebrate people with Down’s syndrome and educate others about their abilities and achievements.

Down syndrome is one of the most common genetic diseases caused by an extra copy of chromosome 21, known as trisomy 21.

This extra chromosome alters the cause of development both physically and cognitively.

So it’s no surprise that every October we recognize Down Syndrome Awareness Month to raise awareness of the disease and advocate for acceptance and full inclusion in society.

This year, Down Syndrome South Africa (DSSA) and its associations are calling on South Africans to connect through kindness.

Isolation has become the new normal because of the pandemic.

DSSA believes that the random acts of kindness from Covid-19 may be just what you need to rebuild the spirits of your families, friends, and communities.

Through this year’s theme, we can see that no act of kindness, no matter how small, is ever wasted.

So in October embrace cuteness with concepts like empathy, gentleness, friendship, stewardship, love, and giving. Kindness can create a positive feedback loop during these difficult and trying times.

Former President Nelson Mandela declared October 20 National Down Syndrome Day in South Africa. In the spirit of celebrating the month, DSSA calls on individuals, businesses, organizations and other entities to give a little and help a lot.

Due to Covid-19, DSSA and its members across the country will be holding limited outreach activities to celebrate National Down Syndrome Day.

These awareness events play an important role in positive changes in attitudes towards people with Down’s Syndrome and other intellectual disabilities.

How to make a difference and support?

Donate your time for a good cause, offer a food basket to a family in need, sponsor a gift certificate, donate your unused clothes to a daycare center.

You can also wear your jeans and purchase a “Perfect Just Down Right Awareness Sticker” for R20 in recognition of this National Awareness Day.

All funds raised through this initiative will be used to support families in local support groups in disadvantaged areas.

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18th edition of “Dash for Down Syndrome” raises funds and raises awareness https://www.novascotiadownsyndromesociety.com/18th-edition-of-dash-for-down-syndrome-raises-funds-and-raises-awareness/ Sun, 03 Oct 2021 22:40:32 +0000 https://www.novascotiadownsyndromesociety.com/18th-edition-of-dash-for-down-syndrome-raises-funds-and-raises-awareness/ COLLEGE STATION, Texas – Katy Foley knows firsthand what it’s like to raise a child with Down syndrome. His son, Lincoln, was born with it. Down syndrome, also known as trisomy 21, is a disease caused by the birth of a person with an extra chromosome. It affects about 6,000 babies each year, according to […]]]>

COLLEGE STATION, Texas – Katy Foley knows firsthand what it’s like to raise a child with Down syndrome. His son, Lincoln, was born with it.

Down syndrome, also known as trisomy 21, is a disease caused by the birth of a person with an extra chromosome. It affects about 6,000 babies each year, according to the Centers for Disease Control and Prevention.

“There are about one in 700 children born with Down syndrome,” said Jason James, board member of the Brazos Valley Down Syndrome Association.

Common physical characteristics of Down syndrome include:

  • Flattened face, especially the bridge of the nose
  • Almond shaped eyes that tilt upwards
  • Short neck
  • Small ears
  • Tongue that tends to stick out of the mouth
  • Small white spots on the iris
  • Little hands and feet
  • Small little fingers that sometimes curve towards the thumb
  • Poor muscle tone or loose joints

Source: CDC

But like everyone else, people with Down’s syndrome want to live normal lives.

“They want to get married. They want to have jobs. They want to live independently, “Foley said.” They are able to do all of this, especially when they are given guidance and support. “

On Sunday, DSABV hosted its 18the Annual Dash for Down Syndrome – a mile-and-a-half walk – at College Station to raise funds and raise awareness about the disease.

“Brazos Valley Down Syndrome Association is an association that helps many aspects of families with children with Down’s syndrome through resources, education, life skills classes,” said James. “A lot of these members that we have, we haven’t seen in a while. They’ve been quarantined and just trying to stay safe, and that’s a good way out… It’s great to see everyone.

Click here if you would like to donate to DSABV.

By the way, October is Down Syndrome Awareness Month.

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If you have any news, feature, sports or other ideas, please send them to yourstories@krhdnews.com

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The offensive past tense of the term for Down syndrome https://www.novascotiadownsyndromesociety.com/the-offensive-past-tense-of-the-term-for-down-syndrome/ Thu, 30 Sep 2021 19:41:19 +0000 https://www.novascotiadownsyndromesociety.com/the-offensive-past-tense-of-the-term-for-down-syndrome/ Source: Metropolitan Museum of Art, New York, used with permission. Some disability-related names have been dropped because they are now considered offensive due to their origins. Down syndrome (Trisomy 21) is just one example. The history and name of Down syndrome Down syndrome is a genetic disease caused by an extra chromosome, and it is […]]]>

Source: Metropolitan Museum of Art, New York, used with permission.

Some disability-related names have been dropped because they are now considered offensive due to their origins. Down syndrome (Trisomy 21) is just one example.

The history and name of Down syndrome

Down syndrome is a genetic disease caused by an extra chromosome, and it is the most common chromosomal abnormality in humans. The condition was originally called “Mongolism”. This term dates back to the 1860s when British physician John Langdon Down first described the disorder.

In 1866, Down published the academic article “Observations on an ethnic classification of idiots,” claiming that it was possible to categorize different types of conditions by ethnic classification. He believed that people with this disorder shared facial features with people of Mongolian descent., ethnic group,So he called it ‘Mongolism’. Down further believed that this condition was a return to an inferior race. race.The term quickly became offensive because it was racist, implying that the Mongols were inferior.

The original name was also offensive as it misrepresented the condition. But in 1959, the French geneticist Jerome Lejeune discovered its genetic cause, which is an extra copy of chromosome 21. In 1961, Lejeune and other international experts and Down’s grandson Norman asked the medical community to come up with a new name because Mongolism was a misnomer.

In 1965, the World Health Organization finally withdrew the name at the request of a delegation from the Mongolian People’s Republic who wanted to recover the name of their indigenous people. The condition has been renamed Down syndrome, after John Langdon Down, while “Down’s syndrome” is also used. (“Down Syndrome” is still in use in the UK.) When the name was changed to a more clinical and, therefore, more precise name, it helped to increase public understanding of the disease and to encourage the empathy for people born with the disease.

Representations of Down syndrome in art

During the 1960s, some thought that Down syndrome was a relatively new disease. Supporting this “modern theory,” they noted that people with the disease were not represented in ancient art. In response, others have observed historical paintings that appear to depict subjects with Down syndrome and have proposed that the disease has existed throughout human history. For example, the crib in Flemish painting The Adoration of the Child Jesus (Circa 1515, by a disciple of Jan Joest) may be one of the earliest representations of Down syndrome in Western art.1

An angel and a shepherd depicted in the painting have facial features suggestive of Down syndrome. A few years ago, the first confirmed case of Down’s syndrome was discovered: the skeleton of a child who died in medieval France.2 The way the child was buried, like anyone else buried around this time, suggests that Down’s syndrome was not necessarily stigmatized in the Middle Ages.

Obsolete and offensive

Today, it is seen as misleading and offensive to use “Mongoloid” to refer to people with this disease, although not everyone is aware of it.

In November 2017, nutritionist Libby Weaver apologized and recalled 20,000 copies of her book What am I supposed to eat? following complaints about its use of “mongolism” to refer to Down syndrome. Mongoloid, Mongolian, Mong and Mongy are still used as insults towards people with intellectual disabilities and in general terms of abuse.

In October 2011, English comedian Ricky was criticized when he shared the joke “Two mongs don’t make a right” on Twitter. He refused to apologize and even added a “mong” skit to his comedy routine. Finally, after much public pressure, he backed down. He apologized, admitting that he had offended people by using the term and had not realized that it was still being used as a derogatory term for people with Down syndrome and other disabilities.

When prominent people like Gervais brandish the old diagnosis as an insult, it can have the effect of popularizing the term as an insult, further stigmatizing and marginalizing those involved.

Today, the World Health Organization works to ensure that places and people are not stigmatized when it names new diseases and conditions.

Read about this topic and more in Karen Stollznow’s new book, On the offensive: prejudices in past and present language.

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The offensive past tense of the term for Down syndrome https://www.novascotiadownsyndromesociety.com/the-offensive-past-tense-of-the-term-for-down-syndrome-2/ Thu, 30 Sep 2021 19:41:19 +0000 https://www.novascotiadownsyndromesociety.com/the-offensive-past-tense-of-the-term-for-down-syndrome-2/ Source: Metropolitan Museum of Art, New York, used with permission. Some names related to disability have been dropped because they are now considered offensive due to their origins. Down syndrome (Trisomy 21) is just one example. The history and name of Down syndrome Down syndrome is a genetic disease caused by an extra chromosome, and […]]]>

Source: Metropolitan Museum of Art, New York, used with permission.

Some names related to disability have been dropped because they are now considered offensive due to their origins. Down syndrome (Trisomy 21) is just one example.

The history and name of Down syndrome

Down syndrome is a genetic disease caused by an extra chromosome, and it is the most common chromosomal abnormality in humans. The condition was originally called “Mongolism”. This term dates back to the 1860s when British physician John Langdon Down first described the disorder.

In 1866, Down published the academic article “Observations on an Ethnic Classification of Idiots,” claiming that it was possible to categorize different types of conditions by ethnic classifications. He believed that people with this disorder shared facial features with people of Mongolian descent., ethnic group,So he named it ‘Mongolism’. Down further believed that this condition was a return to an inferior race. race.The term quickly became offensive because it was racial in nature, implying that the Mongols were inferior.

The original name was also offensive as it misrepresented the condition. But in 1959, the French geneticist Jerome Lejeune discovered its genetic cause, which is an extra copy of chromosome 21. In 1961, Lejeune and other international experts and Down’s grandson Norman asked the medical community to come up with a new name because Mongolism was a misnomer.

In 1965, the World Health Organization finally withdrew the name after a request from a delegation from the Mongolian People’s Republic who wanted to recover the name of their indigenous people. The condition has been renamed Down syndrome, after John Langdon Down, while “Down’s syndrome” is also used. (“Down Syndrome” is still in use in the UK.) When the name was changed to a more clinical and, therefore, more precise name, it helped increase public understanding of the medical condition and encouraged empathy for people born with the condition.

Representations of Down syndrome in art

During the 1960s, some thought that Down syndrome was a relatively new disease. Supporting this “modern theory,” they noted that people with the disease were not represented in ancient art. In response, others have observed historical paintings that appear to depict subjects with Down syndrome and have proposed that the disease has existed throughout human history. For example, the crib in Flemish painting The Adoration of the Child Jesus (Circa 1515, by a disciple of Jan Joest) may be one of the earliest representations of Down syndrome in Western art.1

An angel and a shepherd depicted in the painting have facial features suggestive of Down syndrome. A few years ago, the first confirmed case of Down’s syndrome was discovered: the skeleton of a child who died in medieval France.2 The way the child was buried, like anyone else buried around this time, suggests that Down’s syndrome was not necessarily stigmatized in the Middle Ages.

Obsolete and offensive

Today, it is seen as misleading and offensive to use “Mongoloid” to refer to people with this disease, although not everyone is aware of it.

In November 2017, nutritionist Libby Weaver apologized and recalled 20,000 copies of her book What am I supposed to eat? following complaints about its use of “mongolism” to refer to Down syndrome. Mongoloid, Mongolian, Mong and Mongy are still used as insults towards people with intellectual disabilities and in general terms of abuse.

In October 2011, English comedian Ricky was criticized when he shared the joke “Two mongs don’t make a right” on Twitter. He refused to apologize and even added a “mong” skit to his comedy routine. Finally, after much public pressure, he backed down. He apologized, admitting that he had offended people by using that term and hadn’t realized that it was still being used as a derogatory term for people with Down syndrome and other disabilities or infirmities.

When prominent people like Gervais brandish the old diagnosis as an insult, it can have the effect of popularizing the term as an insult, further stigmatizing and marginalizing those involved.

Today, the World Health Organization works to ensure that places and people are not stigmatized when it names new diseases and conditions.

Read about this topic and more in Karen Stollznow’s new book, On the offensive: prejudices in past and present language.

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Non-invasive Prenatal Testing Market Expected to Grow at a CAGR of 10.70% During 2021-2026 – Stillwater Current https://www.novascotiadownsyndromesociety.com/non-invasive-prenatal-testing-market-expected-to-grow-at-a-cagr-of-10-70-during-2021-2026-stillwater-current/ Thu, 30 Sep 2021 10:44:23 +0000 https://www.novascotiadownsyndromesociety.com/non-invasive-prenatal-testing-market-expected-to-grow-at-a-cagr-of-10-70-during-2021-2026-stillwater-current/ According to the latest IMARC group report, entitled “Non-invasive Prenatal Testing Market Report: Global Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2021-2026,“The global non-invasive prenatal testing market has shown strong growth during the period 2015-2020. Looking ahead, IMARC Group expects the global non-invasive prenatal testing market to grow at a CAGR of 10.70% in […]]]>

According to the latest IMARC group report, entitled “Non-invasive Prenatal Testing Market Report: Global Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2021-2026,“The global non-invasive prenatal testing market has shown strong growth during the period 2015-2020. Looking ahead, IMARC Group expects the global non-invasive prenatal testing market to grow at a CAGR of 10.70% in 2021-2026. The non-invasive prenatal test (NPNT) refers to a type of non-invasive prenatal screening used to determine whether a fetus is at increased risk of being born with genetic abnormalities. Some pieces of DNA from the fetus usually pass into the bloodstream of the pregnant person, called cell-free DNA. This test analyzes the genetic information of cell-free DNA to determine the health of the fetus. NIPT involves the use of a needle and syringe to draw blood and eliminates the requirement of traditional invasive procedures. The test can be done after nine weeks of pregnancy and is used to diagnose genetic disorders such as Down, Edwards, and Turner syndrome.

We regularly monitor the direct effect of COVID-19 on the market, as well as the indirect influence of related industries. These observations will be incorporated into the report.

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Global non-invasive prenatal testing market trends:

The market is primarily driven by the increasing prevalence of fetal chromosomal abnormalities across the world. As a result, NIPT is increasingly used by healthcare professionals to accurately diagnose genetic disorders during the first trimester of pregnancy. It largely replaces the costly and risky invasive amniocentesis and chorionic villus sampling (CVS) procedures due to the convenience associated with the non-invasive approach to testing, which in turn creates a positive outlook for the market. . Along with developments in DNA sequencing technologies, regenerative drugs, and breakthroughs in molecular research, these disorders are further treated effectively in the early stages of fetal development. In addition to this, the growing awareness among the masses of the importance of antenatal care and advancements in the health sector that facilitate the treatment of the fetus during the gestation period act as major growth factors. In addition, increasing maternal age can often lead to life-threatening pregnancy complications, such as high risks of miscarriage and genetic abnormalities. As a result, pregnant patients are increasingly opting for prenatal testing to diagnose their condition at an early stage.

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Key market segmentation:

Competitive landscape:

The competitive landscape of the market has been studied in the report along with detailed profiles of major players. Some the best companies in the non-invasive prenatal testing industry being Agilent Technologies, Inc., Berry Genetics, Inc., BGI Genomics Co., Ltd., Eurofins Scientific Services Limited, F. Hoffmann-La Roche Ltd, GE Healthcare, Igenomix, Illumina Inc., Laboratory Corporation, Natera Inc., PerkinElmer Inc., Thermo Fisher Scientific Inc. and Yourgene Health plc.

Breakdown by product type:

On the basis of Product Type, the market has been divided into Consumables and Instruments.

Breakdown by type of test:

  • Maternity 21
  • Harmony
  • Panaroma
  • To verify
  • HELLO
  • Others

Based on the type of test, the market has been divided into materni 21, harmony, panaroma, verifi, NIFTY and others.

Breakdown by technology:

On the basis of technology, the market has been categorized into NGS, WGS, and others.

Breakdown by type of test:

  • Ultrasonic detection
  • Biochemical screening tests
  • Cell-free DNA in maternal plasma tests
  • Fetal cells in maternal blood tests
  • Others

On the basis of test type, the market has been categorized into Ultrasonic Detection, Biochemical Screening Tests, Cell-free DNA in Maternal Plasma Tests, Fetal Cells in Maternal Blood Tests, and others.

Breakdown by application:

  • Down’s syndrome
  • Microdeletion syndrome
  • Others

Based on Application, the market has been segmented into Down Syndrome, Microdeletion Syndrome, and others.

Breakdown by end user:

  • Hospitals
  • Diagnostic laboratories
  • Others

On the basis of the end user, the market has been divided into hospitals, diagnostic laboratories, and others.

Breakdown by region:

  • North America
  • Europe
  • Asia Pacific
  • Middle East and Africa
  • Latin America

Geographically, the market has been separated into North America (United States and Canada), Europe (Germany, France, United Kingdom, Italy, Spain, Russia and others), Asia-Pacific (China, Japan, India , Korea, Australia, Indonesia and others), Latin America (Brazil, Mexico and others) and the Middle East and Africa.

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