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A Barbie With Down Syndrome Is Already Selling Out. Here's How Kids With The Genetic Disorder Are Reacting.
© Provided by Yahoo Life A Barbie with Down syndrome has been featured in the Fashionistas line. (Photo: Mattel; Illustration by Aisha Yousaf for Yahoo)Barbie may have started off as a tall, busty, blonde, but Mattel has created many iterations of the classic doll over the years. She has used a wheelchair, become curvier, and had a range of skin tones. Now, for the first time, Barbie has Down syndrome.
Kate Green's 9-year-old daughter, Lorelei, already has a large Barbie collection. When Green first showed her daughter, who has Down syndrome, the iconic doll's latest update — created in partnership from the National Down Syndrome Society (NDSS) — the young girl lit up.
"What? No way!" Lorelei gushed, her mother tells Yahoo Life. "Yay. Mommy .. Look … mine." According to Green, Lorelei is "really just now recognizing that she has Down syndrome," and "may not even notice [that the new Barbie has] Down syndrome right off the bat." But Green sees it as a step in the right direction in helping her daughter "take pride in herself."
"She sees a pretty doll and Lorelei knows she's pretty too," she says.
Created as part of the Fashionistas line, the just-released Barbie with Down syndrome doll is part of Mattel's commitment to help "counter social stigma through play," says Lisa McKnight, executive vice president and global head of Barbie & Dolls. The toymaker sought out input from people with Down syndrome and the organization that represents their interest, the NDSS, on the doll's design and messaging.
"As a woman with Down syndrome, I was proud to contribute to these meetings with my other colleagues, offering guidance on the design and style of the Barbie doll," Kayla McKeon, the manager of grassroots advocacy at NDSS, tells Yahoo Life. "I'm going to be so proud seeing this doll on shelves," she adds.
Based on input from NDSS, the new Barbie with Down syndrome includes "a single line in the doll's palm, a body with a shorter frame, longer torso and low muscle tone, a new face sculpt, featuring a rounder shape, tinier ears and a flat nasal bridge," McKnight tells Yahoo Life.
NDSS president and CEO Kandi Pickard adds that process was "purposeful with every design choice …from the new face and body sculpt to the accessories which feature colors and symbols that are associated with Down syndrome awareness." Those accessories include a necklace with three chevrons representing the three copies of chromosome 21 that cause Down syndrome and leg braces that some people with Down syndrome wear to help them walk. The Barbie also wears a dress decorated with butterflies, a symbol of the Down syndrome community.
McKeon says she believes "that the impact will be huge for people with Down syndrome" like herself. Indeed, the reaction has been overwhelming. "To all the girls out there with Down syndrome, THIS IS US!!!" Grace Strobel, a model with Down syndrome, wrote on social media in response to the Barbie.
"This is the greatest ever!!" Strobel shared. "When I got this Barbie it made me so incredibly happy and so proud. Tears of joy because it shows that although we are all different we all belong! This brought so many emotions to my mom and I because now this is one step further to acceptance. To feel good about ourselves and who we are. Thank you Barbie for recognizing the importance of representation and inspiring the next generation."
Meriah Nichols posted a video of her 13-year-old daughter Moxie, who has Down syndrome, reacting to the new Barbie. "Barbie has Down syndrome just like me!" Moxie says excitedly. "She was just thrilled that there is a Barbie with Down syndrome out there," Nichols tells Yahoo Life.
For Austin Carrigg, whose 8-year-old daughter Melanie also has Down syndrome, the new Barbie is long overdue.
"I appreciate so much that there is now a Barbie that is modeled after an individual with Down syndrome, but frankly the fanfare over it I just don't understand," Carrigg says. "This should have become commonplace years ago. … Why aren't all manufacturers of dolls creating toys that look like all of their consumers?"
Carrigg hopes Mattel will start producing a Barbie with Down syndrome in different skin tones so her daughter, who is Asian, can see herself better reflected in Barbie. She notes that while this is "a step in the right direction," there still isn't a doll that looks like Melanie.
McKeon says it's not just people with Down syndrome who will benefit from the new Barbie. "Everyone should be playing with a Barbie doll with Down syndrome because kids and adults need to see the world in a different way. We are all diverse and the Barbie dolls that we play with should represent that. It's going to be so meaningful for children with Down syndrome to have peers who play with a doll that represents them," she tells Yahoo Life.
Nichols, who is deaf, also hopes that typically developing children will play with the new Barbie. "There have been dolls with hearing aids," the mom notes. "On one hand, yay! Yes, representation! But on the other hand, I really want to see these types of dolls being played with by kids who do not have our respective disabilities. In other words, these dolls are for everyone, just like dolls with different skin colors can be played with and enjoyed by all kids."
For now, the tricky part may be getting ahold of the Barbie, which is already sold out online, in the first place. Neither Green nor Nichols were able to find one in stock anywhere.
"I desperately searched how to find one," Green says. "I tried to order but they are sold out."
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What To Know About Down Syndrome
Down syndrome is a genetic condition that occurs when an error in cell division results in an extra chromosome 21. It can affect a person's cognitive ability and physical growth, and there may be a higher risk of some health problems.
Down syndrome can affect a person's cognitive ability and physical growth, cause varying developmental differences, and present a higher risk of some health problems.
Healthcare professionals can use a series of screenings and tests to detect Down syndrome before or after birth.
Down syndrome occurs in around 1 in every 700 babies born.
This article discusses the causes or contributing factors of Down syndrome, the characteristics of the condition, the diagnosis, types of Down syndrome, and whether this condition is genetic or linked to autism.
Down syndrome is a genetic condition that occurs when there is an extra copy of a specific chromosome: chromosome 21. The extra chromosome can affect a person's physical features, intellect, and overall development. It also increases the likelihood of some health problems.
Many factors contribute to Down syndrome, but the prevalence is higher in older pregnant people. There may be a higher chance if a pregnant person is over age 35.
A pregnant person at age 25 has about a 1 in 1,250 chance of conceiving a child with Down syndrome. At age 40, the incidence becomes approximately 1 in 100.
All cells in the body contain genes, which have a specific code or set of instructions for creating the cells. These genes sit inside chromosomes in the cell nucleus. There are typically 46 chromosomes in each cell — 23 inherited from the mother and 23 from the father.
Down syndrome occurs when some or all of a person's cells have an extra full or partial copy of chromosome 21.
In most cases, Down syndrome is not inherited and does not run in families. Though Down syndrome comes from the genes themselves, this is generally due to errors between a sperm and an egg, when the genetic information that forms a child first combines and copies.
Down syndrome can have links to genetics. There may be some links between parents of a person with translocation Down syndrome and their likelihood to have more children with Down syndrome in some cases.
The Genetic and Rare Diseases Information Center notes that in parents of a child with Down syndrome due to translocation, there may be an increased chance of Down syndrome in future pregnancies if one of the parents has a genetic rearrangement called a balanced translocation. However, this does not occur in every case of translocation Down syndrome.
Individuals with Down syndrome commonly have distinct physical features, unique health issues, and changes in cognitive development.
Physical featuresSome common physical characteristics of Down syndrome can include:
People with Down syndrome usually have cognitive development profiles that suggest mild to moderate intellectual disability. However, cognitive development and intellectual ability are highly variable.
People with Down syndrome also experience learning difficulties that lead to developmental delays. A person with Down syndrome has a specific pattern of cognitive and behavioral features. These differ from what is seen in typically developing children and children with other causes of intellectual disability.
Children with Down syndrome often reach developmental milestones a little later than their peers. They may be slow to sit, turn over, and stand.
There may also be a delay in coordination and fine motor skills (movements using small muscles in the hands and wrists). These skills can take time to develop after the child acquires gross motor skills, which involve movement of the whole body.
Development of speaking and grasping a language may also take longer than expected. With this said, people with Down syndrome eventually meet many of these milestones.
People with Down syndrome may also experience:
With engagement and regular therapy, most people with Down syndrome can attend school and become active members of the community.
Health issuesSometimes, general health problems can affect any organ system or bodily function. About 40–60% of all people with Down syndrome have a congenital heart defect.
There may also be a higher risk of:
Children with Down syndrome are also more likely to develop some infections, such as:
There seems to be a lower risk of hardening in the arteries, diabetic retinopathy, and most kinds of cancer.
People with a higher chance of having a child with Down syndrome might receive screening and diagnostic tests.
There are two categories of screening tests that doctors can perform.
Prenatal screens can estimate the probability of a person having a baby with Down syndrome and justify further tests, but they do not diagnose Down syndrome.
Diagnostic tests can definitively tell whether a fetus will have the condition and identify certain abnormalities.
Screening testsDue to the increased chances of having a child with Down syndrome, people aged 30–35 or older might receive genetic screenings during pregnancy.
These tests are completely optional, and not everyone will choose genetic screening while pregnant.
There are several screening tests, which include:
Screening tests cannot confirm whether Down syndrome is present.
Screening is a cost effective and less invasive way to determine whether doctors may need to order further diagnostic testing.
Diagnostic testsDiagnostic tests are more accurate at detecting Down syndrome.
A healthcare professional will usually perform such tests inside the uterus.
However, diagnostic tests can increase the risk of:
Diagnostic tests include:
A healthcare professional can also diagnose Down syndrome after a baby is born by inspecting their:
There is no specific treatment for Down syndrome. People who have the condition will receive care for any health problems, as other people do.
However, healthcare professionals may recommend additional health screening for issues common to people with the condition.
The National Institute of Child Health and Human Development recommends early intervention with specialized programs to help a person maximize their potential and prepare to take an active role in the community. Early intervention may help improve outcomes for people with Down syndrome.
Working with a team of specialists can provide stimulation and encouragement to the child as they grow. This can include many specialists in different fields to help the person develop. These specialists may include:
Children with specific learning and developmental difficulties may be eligible for educational support in a public or specialized school.
Children with Down syndrome are entitled to an appropriate educational environment that fits their needs, often with additional support to help them integrate and make progress.
Some children will make use of an Individualized Education Program (IEP), which various specialists will support.
There are a few different types of Down syndrome:
Down syndrome and autism spectrum disorder are two types of conditions that can cause cognitive changes in a person. These conditions do have some key differences.
Unlike with Down syndrome, there are no distinct or easily recognizable physical characteristics to identify a person with autism.
Down syndrome is a genetic condition stemming from changes to the genes themselves. Autism is a neurological condition, and the exact cause of autism is not quite clear.
Compared with an average child of a similar age, both conditions may cause communication differences or learning disabilities, and how this appears can vary in each condition and individual.
There are no cures for either condition. Most people will use many treatment and therapy methods to help manage their condition or make improvements in important areas they choose to.
A person with Down syndrome can do many things that other people do. Children may take longer to acquire skills such as walking and talking, but they can develop at their own pace and attend school with early stimulation and treatment.
Depending on how the condition affects a person, they may work and live semi-independently with Down syndrome.
People with Down syndrome need friendships and relationships. Some will live with a partner or get married, having an independent life.
The Centers for Disease Control and Prevention (CDC) note that the life expectancy of a person with Down syndrome has increased significantly with modern advancements in medicine and treatment. In 1960, a person with Down syndrome lived an average of 10 years. By 2007, a person with Down syndrome lived an average of 47 years.
A person born with Down syndrome today has the best chance at leading a long, engaging life due to modern advancements in healthcare, early treatments, and successfully managing congenital issues such as heart conditions.
Down syndrome occurs due to an error in chromosome 21. This error copies into the genes, creating a set of characteristics common to Down syndrome. This includes physical characteristics, developmental delays, and risks of other health conditions.
While there is no treatment for Down syndrome, early engagement can help a child develop and progress at their own pace. Modern advancements in healthcare and treatment give people with Down syndrome a better outlook than ever before, which may continue as more medical advancements occur.
Researchers Show Genetic Basis Of Facial Changes In Down Syndrome
Researchers at the Francis Crick Institute, King's College London and University College London have shed light on the genetics behind changes in the structure and shape of the face and head in a mouse model of Down syndrome.
Described in a paper published today in Development, the researchers found that having a third copy of the gene Dyrk1a and at least three other genes were responsible for these changes taking place in development—called craniofacial dysmorphology—which involve shortened back-to-front length and widened diameter of the head.
Affecting 1 in 800 live births, Down syndrome is known as a "gene dosage disorder"—meaning that it involves changes in the number of copies of a gene. People with Down syndrome have three copies of chromosome 21 instead of two. Having three copies of certain genes on this chromosome causes aspects typical of Down syndrome, but it's not yet known which genes are responsible.
Using genetic engineering, teams led by Victor Tybulewicz of the Francis Crick Institute and Elizabeth Fisher of University College London created mouse strains with duplications of three regions on mouse chromosome 16, which mimics having a third chromosome 21. The mice show lots of traits associated with Down syndrome, including changes in the shape of the face and skull.
Previous research has linked a gene called Dyrk1a to aspects of Down syndrome, so the researchers wanted to test how it impacted craniofacial dysmorphology.
Now working with Jeremy Green's group at King's College London, they showed that mice with an extra copy of Dyrk1a had a reduced number of cells in the bones at the front of the skull and in the face. Also, cartilaginous joints at the base of the skull called synchondroses were abnormally fused together. These effects were partly reversed when the third copy of Dyrk1a was removed, showing that three copies of Dyrk1a are necessary to cause these changes in the skull.
The researchers believe that having a third copy of Dyrk1a hinders the growth of neural crest cells that are needed to form the bones at the front of the skull.
In addition to Dyrk1a, the research showed that three other genes also contribute to the changes in the skull, but more research is needed to confirm their identity.
Victor Tybulewicz, Group Leader of the Down syndrome Laboratory at the Crick, who worked with first author Yushi Redhead, said, "There's currently limited treatments for the aspects of Down syndrome which have a negative impact on people's health, like congenital heart conditions and cognitive impairment, so it's essential we work out which genes are important.
"Understanding the genetics involved in the development of the head and face gives us clues to other aspects of Down syndrome like heart conditions. Because Dyrk1a is so key for craniofacial dysmorphology, it's highly likely that it's involved in other changes in Down syndrome, too."
Researchers at King's College London used shape-measuring tools to map the changing skull shape of the mice. These showed changes in skull shape that were remarkably similar to those seen in people with Down syndrome.
Jeremy Green, Professor of Developmental Biology at King's College London, said, "With the help of great collaborators at the University of Calgary in Canada and a medical imaging software group here at King's, we were able to apply both quite traditional and some very novel methods for comparing complex anatomical shapes. These were sensitive enough to pick up differences even at fetal stages. This helped us pin down not only the locations of genes that cause Down syndrome but also get clues as to how those genes cause the differences that they do."
This research forms part of an ongoing project to understand the genetics of Down syndrome. The researchers will next aim to identify the genes involved in heart defects and in cognitive impairment, bringing us a step closer to understanding how to develop targeted treatments for aspects of Down syndrome which impact health.
More information: Yushi Redhead et al, Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes, Development (2023). DOI: 10.1242/dev.201077
Citation: Researchers show genetic basis of facial changes in Down syndrome (2023, April 26) retrieved 28 April 2023 from https://medicalxpress.Com/news/2023-04-genetic-basis-facial-syndrome.Html
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