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Fertile offspring from sterile sex chromosome trisomic mice
Having the correct number of chromosomes is vital for normal development and health. Sex chromosome trisomy affects 0.1% of the human population and is associated with infertility. We show that during reprogramming to induced pluripotent stem cells (iPSCs), fibroblasts from sterile trisomic XXY and XYY mice lose the extra sex chromosome through a phenomenon we term trisomy-biased chromosome loss (TCL). Resulting euploid XY iPSCs can be differentiated into the male germ cell lineage and functional sperm that can be used in intracytoplasmic sperm injection to produce chromosomally normal, fertile offspring. Sex chromosome lo...
Source: ScienceNOW - August 31, 2017 Category: Science Authors: Hirota, T., Ohta, H., Powell, B. E., Mahadevaiah, S. K., Ojarikre, O. A., Saitou, M., Turner, J. M. A. Tags: Genetics reports Source Type: news

Sequencing all 24 human chromosomes uncovers rare disorders
Bethesda, Md., Thur., August 30, 2017 - Non-invasive prenatal screening is one of the great success stories of genomics research. Now, a new NHGRI study has found that extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities in fetal growth. This approach may also reduce false positive results for Down syndrome and other common conditions. Findings were published online today, August 30, in Science Translational Medicine. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - August 30, 2017 Category: Genetics & Stem Cells Source Type: news

Treadmill interventions in children under six years of age at risk of neuromotor delay.
Delayed motor development may occur in children with Down syndrome, cerebral palsy, general developmental delay or children born preterm. It limits the child's exploration of the environment and can hinder cognitive and social-emotional development. Literature suggests that task-specific training, such as locomotor treadmill training, facilitates motor development. To assess the effectiveness of treadmill interventions on locomotor development in children with delayed ambulation or in pre-ambulatory children (or both), who are under six years of age and who are at risk for neuromotor delay. (Source: Current Awareness Ser...
Source: Current Awareness Service for Health (CASH) - August 30, 2017 Category: Consumer Health News Source Type: news

Sequencing all 24 human chromosomes uncovers rare disorders
(NIH/National Human Genome Research Institute) Non-invasive prenatal screening is one of the great success stories of genomics research. Now, a new NHGRI study has found that extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities in fetal growth. This approach may also reduce false positive results for Down syndrome and other common conditions. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - August 30, 2017 Category: International Medicine & Public Health Source Type: news

Study estimates number of births, population prevalence of Down syndrome in nine states
(Massachusetts General Hospital) A new study estimates, for the first time, both the numbers of children born annually with Down syndrome in nine U.S. states and the prevalence of Down syndrome in each of those states' populations. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - August 28, 2017 Category: International Medicine & Public Health Source Type: news

Actin protects mammalian eggs against chromosome segregation errors
Chromosome segregation is driven by a spindle that is made of microtubules but is generally thought to be independent of actin. Here, we report an unexpected actin-dependent mechanism that drives the accurate alignment and segregation of chromosomes in mammalian eggs. Prominent actin filaments permeated the microtubule spindle in eggs of several mammalian species, including humans. Disrupting actin in mouse eggs led to significantly increased numbers of misaligned chromosomes as well as lagging chromosomes during meiosis I and II. We found that actin drives accurate chromosome segregation by promoting the formation of func...
Source: ScienceNOW - August 24, 2017 Category: Science Authors: Mogessie, B., Schuh, M. Tags: Cell Biology, Molecular Biology, Online Only r-articles Source Type: news

'Safer' Down's syndrome test to be introduced in Wales
The new test - which has a reduced risk of miscarriage - will be offered from next year. (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - August 21, 2017 Category: Consumer Health News Source Type: news

The country where Down syndrome is disappearing
Iceland has almost eliminated Down syndrome by aborting virtually 100 percent of fetuses that test positive. (Source: Health News: CBSNews.com)
Source: Health News: CBSNews.com - August 17, 2017 Category: Consumer Health News Source Type: news

Down syndrome: Reimagining what ’s possible
Photo credit: Nicole Starr I first met Ella Gray Cullen in the Advanced Fetal Care Center (AFCC) of Boston Children’s Hospital, shortly after she had received a prenatal diagnosis of Down syndrome. Like many parents expecting babies with conditions that can be diagnosed prenatally, she wanted to know more. We talked about the additional medical screenings that would be recommended for her daughter to evaluate for cardiac defects and other conditions that are more common in children with Down syndrome. We discussed the developmental supports through Early Intervention and school that would be available to help her dau...
Source: Thrive, Children's Hospital Boston - August 16, 2017 Category: Pediatrics Authors: Dr. Emily Jean Davidson Tags: Our Patients’ Stories Parenting Advanced Fetal Care Center Breastfeeding Down syndrome Emily Davidson Source Type: news

Behind the Lens: Iceland's Down syndrome dilemma
More than 90 percent of Icelanders trace their ancestors back to the Vikings; they're also remarkably unified on the ethical questions posed by genetic testing (Source: Health News: CBSNews.com)
Source: Health News: CBSNews.com - August 15, 2017 Category: Consumer Health News Source Type: news

The country where Down syndrome is disappearing
Iceland has almost eliminated Down syndrome by aborting virtually 100 percent of fetuses that test positive. Should the rest of the world follow suit? (Source: Health News: CBSNews.com)
Source: Health News: CBSNews.com - August 14, 2017 Category: Consumer Health News Source Type: news

Behind the Lens: Iceland's Down syndrome dilemma
More than 90 percent of Icelanders trace their ancestors back to the Vikings; they're also remarkably unified on the ethical questions posed by genetic testing (Source: Health News: CBSNews.com)
Source: Health News: CBSNews.com - August 11, 2017 Category: Consumer Health News Source Type: news

Preview: Down's Dilemma
Over the past decade, Iceland has virtually eliminated new cases of Down syndrome through widespread use of genetic testing. But some are troubled by a society that can "pick and choose" which children get born. Elaine Quijano went to Iceland to look at the impact for "CBSN: On Assignment." The full report airs Monday, August 14, at 10 p.m. ET/PT on CBS and our streaming network, CBSN. (Source: Health News: CBSNews.com)
Source: Health News: CBSNews.com - August 8, 2017 Category: Consumer Health News Source Type: news

Preview: Down Dilemma
Over the past decade, Iceland has virtually eliminated new cases of Down syndrome through widespread use of genetic testing. But some are troubled by a society that can "pick and choose" which children get born. Elaine Quijano went to Iceland to look at the impact for "CBSN: On Assignment." (Source: Health News: CBSNews.com)
Source: Health News: CBSNews.com - August 8, 2017 Category: Consumer Health News Source Type: news

Parents of Down syndrome kids admit their fears
Amy and Ben Wright, from North Carolina, admit they were scared of raising kids with Down syndrome. But now they are overjoyed - and have opened a cafe staffed by people with disabilities. (Source: the Mail online | Health)
Source: the Mail online | Health - July 19, 2017 Category: Consumer Health News Source Type: news

Down's syndrome
"We're sorry, your son has Down's syndrome" (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - July 12, 2017 Category: Consumer Health News Source Type: news

No Good Predictor of Sleep Disordered Breathing in Down Syndrome Children No Good Predictor of Sleep Disordered Breathing in Down Syndrome Children
There are no reliable clinical predictors of sleep disordered breathing (SDB) in children with Down syndrome, researchers from Canada report.Reuters Health Information (Source: Medscape Allergy Headlines)
Source: Medscape Allergy Headlines - June 30, 2017 Category: Allergy & Immunology Tags: Pediatrics News Source Type: news

Medicaid Is Getting Killed. Here's What You Need to Know.
We haven’t been hearing any updates about the new “health care” bill that is being written, and that is for good reason: the bill is being written in secret. The rules are being changed behind the scenes and roadblocks removed. The plan is to put it all together in one big amendment and substitute it for the House version very quickly on June 26 and go straight to floor for vote. No further discussion allowed, no additional amendments. Funding will wither away year by year, waitlists will grow even more, and people with disabilities will have less opportunities to contribute, be independent and healthy, a...
Source: Healthy Living - The Huffington Post - June 14, 2017 Category: Consumer Health News Source Type: news

Mom Of Son With Down Syndrome Issues Simple Plea To Parents
An Illinois mom’s Facebook post is shedding light on the experiences of kids with special needs.  Kristen Miller Rumphol has two children, a 12-year-old daughter named Mackenzie and an 11-year-old son named Brandon, who has Down syndrome.  After spending a day with her kids at a public pool in Algonquin, she felt inspired to write an open letter about Brandon’s experience there.  “Today while at the swimming pool my heart was breaking!” she wrote. “You see NO ONE wanted to play with my son. He would go up to other kids and say ‘hi boy or hi girl.’ He is still ca...
Source: Healthy Living - The Huffington Post - June 13, 2017 Category: Consumer Health News Source Type: news

4 questions parents have about moyamoya disease
Last month, families from across the country gathered at Boston Children’s Hospital to celebrate World Moyamoya Day. The expert speakers at the Moyamoya Family Day Symposium shared the latest information about this rare but very serious condition with parents and patients alike. Moyamoya disease occurs when the walls of the internal carotid arteries — the vessels that supply blood to important areas of the brain — become thickened and narrowed. As a result, blood flow to the brain slows, making blood clots more likely. Kids with moyamoya disease are at significantly higher risk of having a stroke, as well...
Source: Thrive, Children's Hospital Boston - June 13, 2017 Category: Pediatrics Authors: Jessica Cerretani Tags: Ask the Expert Diseases & Conditions Dr. Edward Smith moyamoya Moyamoya Disease Program Source Type: news

Mom's Speech About Her Baby With Down Syndrome Will Take Your Breath Away
A mother’s heartbreaking and honest speech about what it was like to learn her daughter had Down syndrome is captivating the internet. In 2015, comedian Bethany Van Delft teamed up with The Moth, a nonprofit organization dedicated to storytelling, to share her experience of being a mother of a child with Down syndrome. In her nearly 15-minute story, Van Delft discussed her “perfect pregnancy,” her weekly ultrasounds and the expectation of that “rush of love that new mothers talk about.” She then unflinchingly told the audience that she was “terrified” the moment she learned her dau...
Source: Healthy Living - The Huffington Post - June 6, 2017 Category: Consumer Health News Source Type: news

Toronto police officers caught on video mocking woman with Down syndrome
A Toronto family has demanded a public apology after two police officers were caught on dashcam footage mocking a woman with Down syndrome during a traffic stop, describing her as disfigured and less than a whole person. (Source: CBC | Health)
Source: CBC | Health - June 5, 2017 Category: Consumer Health News Tags: News/Canada/Toronto Source Type: news

Down Syndrome model blasts lack of diversity in fashion
Katie Mead, from Des Moines, Iowa, last year became the first model with Down Syndrome to front a beauty brand and has seen her career go from strength to strength ever since. (Source: the Mail online | Health)
Source: the Mail online | Health - June 2, 2017 Category: Consumer Health News Source Type: news

Alzheimer ’s drug candidate shows positive outcome in Phase II trial for Down syndrome
A Phase II clinical trial conducted at the Massachusetts General Hospital in the US to evaluate scyllo-inositol (ELND005) for the treatment of young adults with Down syndrome has demonstrated a positive outcome. (Source: Drug Development Technology)
Source: Drug Development Technology - June 1, 2017 Category: Pharmaceuticals Source Type: news

Link between stress in pregnancy and ADHD unfounded
Conclusion Despite the media headlines and scaremongering, ADHD is never mentioned in the study. The researchers cite animal studies which suggest increased levels of the stress hormone cortisol may speed up development before birth. They say this may prevent proper maturation of the organs and so could cause any "mental or physical illness" occurring later in life, such as ADHD. However, for ethical reasons, the levels of stress hormones in the amniotic fluid were only measured once in this study. This means we are unable to tell whether they changed during periods of maternal stress or during the pregnancy. Tho...
Source: NHS News Feed - May 31, 2017 Category: Consumer Health News Tags: Pregnancy/child Mental health Source Type: news

Clinical trial investigates Alzheimer's disease drug in people with Down syndrome
(Massachusetts General Hospital) A phase 2 clinical trial in young adults with Down syndrome of a drug being investigated for the treatment of Alzheimer's disease supports further investigation of its potential. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 31, 2017 Category: International Medicine & Public Health Source Type: news

Children ’ s Hospital Employee With Down Syndrome Inspires Doctors, Patients
BOSTON (CBS) – Anyone interested in the secret to success should take a lesson out of Nathan Simons’ playbook. Nathan is the first full time employee with Down syndrome at Boston Children’s Hospital. “I just love it! I love the people who come here and give good feedback,” Simons said. Nathan Simons (WBZ-TV) The 28-year-old first starting working in the Down syndrome program part-time. His superiors noticed he takes directions well and his go-go attitude caught on quick. Before he knew it, he was offered a full time position. “It’s amazing and my parents are like ‘Yes Nathan ...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - May 16, 2017 Category: Consumer Health News Authors: Health – CBS Boston Tags: Health Local News Syndicated Local Boston Children's Hospital Down Syndrome Paul Burton Source Type: news

Cambridge mum produces book about positives of Down's syndrome
Tania Khan sent the book to maternity wards around the country to help fellow parents. (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - May 10, 2017 Category: Consumer Health News Source Type: news

We Have No Idea How States Will Treat Pre-Existing Conditions
Like most things in life and certainly in health care, the devil is in the details of Republicans’ American Health Care Act. So when Rep. Cathy McMorris Rodgers (R-Wash.) wrote an op-ed in The Washington Post explaining that her son Cole, born with Down syndrome, was at the heart of her support for the bill, the devil probably did a little happy dance. Though McMorris Rodgers wrote that the GOP bill would still protect people with pre-existing conditions like her son, the reality is that she doesn’t really know how they’ll be affected. None of us do.  But one glimpse at recent his...
Source: Healthy Living - The Huffington Post - May 5, 2017 Category: Consumer Health News Source Type: news

For people with Down Syndrome, varying test results can make it harder to get the right vision prescription
Even objective, automated vision testing —using a device called an autorefractor—gives variable results in patients with Down syndrome, reports a new study. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - May 4, 2017 Category: Science Source Type: news

For people with Down syndrome, varying test results can make it harder to get the right vision prescription
(Wolters Kluwer Health) Even objective, automated vision testing -- using a device called an autorefractor -- gives variable results in patients with Down syndrome, reports a study in the May issue of Optometry and Vision Science, the official journal of the American Academy of Optometry. The journal is published by Wolters Kluwer. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 4, 2017 Category: Global & Universal Source Type: news

Down Syndrome Symptoms
(Source: eMedicineHealth.com)
Source: eMedicineHealth.com - April 24, 2017 Category: Journals (General) Source Type: news

Heartwarming Special Olympics Ad Has Everyone In Tears
A beautiful ad from the Special Olympics is highlighting the power of sibling bonds. Titled “Born Apart,” the one-minute video tells the story of twin brothers. One has Down syndrome, and the other does not. As they grow up together, they develop a special relationship and pursue the same interests, like competitive running. Over 7 million people have watched the touching video. As the captioning at the end notes: “Born 4.36 seconds apart. It’s the only difference between us.” -- This feed and its contents are the property of The Huffington Post, and use is subject to our terms. It may be used...
Source: Healthy Living - The Huffington Post - April 14, 2017 Category: Consumer Health News Source Type: news

Urine test used to diagnose sleep apnea in Down syndrome children
Researchers have found a way to diagnose obstructive sleep apnea in children with Down syndrome through a non-invasive urine test. (Source: Health News - UPI.com)
Source: Health News - UPI.com - April 6, 2017 Category: Consumer Health News Source Type: news

Mayo Clinic PathWays: What's the diagnosis?
This week's case study highlights a 42-year-old woman with trisomy 21 (the most common form of Down syndrome) and an unrepaired heart defect. She was admitted for vomiting blood and blood in her stool, both thought due to a tear in her esophagus?caused by forceful vomiting.?Coagulation test results included an elevated prothrombin time (a blood [...] (Source: News from Mayo Clinic)
Source: News from Mayo Clinic - April 5, 2017 Category: Databases & Libraries Source Type: news

Nigeria: Handle Down Syndrome Children With Care, Expert Tells Parents, Caregivers
[Guardian] Counsellor and founder, Moyinoluwa Rainbow Foundation, Mrs. Tola Makinde, has advised parents, caregivers and communities to always show love and give adequate care to children living with Down Syndrome. (Source: AllAfrica News: Health and Medicine)
Source: AllAfrica News: Health and Medicine - April 3, 2017 Category: African Health Source Type: news

Peterborough family's year of autism and Down's syndrome selfies
The nightly photographs have become a "routine" that the little girl's parents look forward to. (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - March 30, 2017 Category: Consumer Health News Source Type: news

Peterborough autistic girl's year of selfies video
Lucy Harris, from Peterborough, who also has Down's syndrome, refused to go to bed without a selfie. Her family have released a video of her year in pictures. (Source: the Mail online | Health)
Source: the Mail online | Health - March 29, 2017 Category: Consumer Health News Source Type: news

Researchers turn urine into research tools
Researchers have developed a breakthrough technique to harvest cells directly from urine, and grow them into durable, clinically relevant stem cells to study Down syndrome. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - March 28, 2017 Category: Science Source Type: news

Africa: At UN Event, People With Downs Syndrome 'Speak Up' to Influence Government Policy and Action
[UN News] Today, the call that people with Down Syndrome be included to fully and equally participate in all aspects of society echoed widely throughout United Nations Headquarters in New York. (Source: AllAfrica News: Health and Medicine)
Source: AllAfrica News: Health and Medicine - March 22, 2017 Category: African Health Source Type: news

At UN event, people with Downs Syndrome ‘ speak up ’ to influence government policy and action
Today, the call that people with Down Syndrome be included to fully and equally participate in all aspects of society echoed widely throughout United Nations Headquarters in New York. (Source: UN News Centre - Health, Poverty, Food Security)
Source: UN News Centre - Health, Poverty, Food Security - March 21, 2017 Category: Global & Universal Source Type: news

Down's syndrome teenager addresses the UN in Geneva
A teenager with Down's syndrome has addressed the United Nations in Geneva asking them "why all this testing?" (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - March 21, 2017 Category: Consumer Health News Source Type: news

This teenager with Down's syndrome addressed the UN in Geneva
A teenager with Down's syndrome has addressed the United Nations in Geneva asking them "why all this testing?" (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - March 21, 2017 Category: Consumer Health News Source Type: news

Down's syndrome mum: 'Don't feel sorry for us'
A mother who has two children with Down's syndrome says she wants the world to know she's proud of them. (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - March 21, 2017 Category: Consumer Health News Source Type: news

'So proud of my children with Down's syndrome'
A mother who has two children with Down's syndrome says she wants the world to know she's proud of them. (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - March 21, 2017 Category: Consumer Health News Source Type: news

Teen With Down Syndrome Got Asked To Prom In The Sweetest Way
Sure, it’s a little cheesy but this just might be the most thoughtful prom proposal ever. On Sunday, the Facebook page Love What Matters posted a heart-meltingly cute video of 18-year-old Shaedon Wedel asking his best friend’s little sister to the prom.  Carlie Wittman, 15, has Down syndrome and her favorite chips are Doritos. Naturally, Shaedon tried to work some nacho cheese-inspired comedy into his prom invite. “I decided on the Doritos theme because I have known her for seven years and there has not been a day that I have not seen her eat Doritos,” the high school senior told The ...
Source: Healthy Living - The Huffington Post - March 20, 2017 Category: Consumer Health News Source Type: news

EU research funding targets help for people with Down syndrome
World Down Syndrome Day on 21 March 2017 raises awareness and informs policymaking and action at all levels of society. For its part, the EU has been a major funder of projects and initiatives aimed at promoting inclusion, boosting knowledge and improving the lives of people with Down syndrome and their families. (Source: EUROPA - Research Information Centre)
Source: EUROPA - Research Information Centre - March 20, 2017 Category: Research Source Type: news

Lily Beddall: Girl with Down's syndrome models for Matalan
A two-year-old toddler with Down's syndrome has been chosen as one of the new faces of Matalan. (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - March 18, 2017 Category: Consumer Health News Source Type: news

How Murder Victims With Disabilities Get Blamed For Their Own Deaths
Alex Spourdalakis was 14 when his mother and godmother decided to kill him. The women tried to poison the boy, who had autism, with sleeping pills. When that failed, Dorothy Spourdalakis stabbed her son four times in the chest with a kitchen knife, twice hitting his heart. She slit one of his wrists so deeply she nearly severed his hand, according to court records. Then she handed the knife to Jolanta Agata Skrodzka, who used it to kill the family cat so it wouldn’t have to live in a shelter after their arrests.  A year later, 11-year-old Raashanai Coley, another child in Illinois, died from a stomach ruptu...
Source: Healthy Living - The Huffington Post - March 14, 2017 Category: Consumer Health News Source Type: news

Response abilities of children with Down Syndrome and other intellectual developmental disorders - Rao PT, Guddattu V, Solomon JM.
Efficiency with which a task is performed results from the precise timing and force with which the task is executed. We aimed at assessing the influence of change in task constructs on the response abilities of children who are known to have impaired perce... (Source: SafetyLit)
Source: SafetyLit - March 1, 2017 Category: Global & Universal Tags: Distraction, Fatigue, Chronobiology, Vigilance, Workload Source Type: news