Down Syndrome News and Research

Latest Down Syndrome News and Research

Picaa app helps children and teenagers with some kind of cognitive, visual or hearing disability

This application -named Picaa- can be used on iPhone, iPad and iPod touch and has been translated into several languages (English, Galician, Arab, etc.). This application has topped the 20,000 downloads from App Store -mainly from Spain and the USA- since its release. Picaa is a system designed for the development of learning and communication activities to be performed in class.

12 Dec 2012

Microarray analysis ‘best test for prenatal diagnosis’

Chromosomal microarray analysis is able to identify significantly more clinically relevant information for prenatal diagnosis than is karyotyping, and is equally able to highlight aneuploidies and unbalanced rearrangements, US study findings suggest.

10 Dec 2012

Microarray technology provides comprehensive result during prenatal care of women

A new method for detecting abnormalities in unborn children is providing physicians with more information to analyze the results than conventional, microscopic testing, according to two George Washington University researchers.

7 Dec 2012

New prenatal genetic test results in more clinically relevant information

A large, multi-center clinical trial led by researchers from Columbia University Medical Center (CUMC) shows that a new genetic test resulted in significantly more clinically relevant information than the current standard method of prenatal testing.

6 Dec 2012

NAP and SAL injection during pregnancy improve memory, learning tasks in offsprings

Mice with a condition that serves as a laboratory model for Down syndrome perform better on memory and learning tasks as adults if they were treated before birth with neuroprotective peptides, according to researchers at the National Institutes of Health.

30 Nov 2012

First Edition: November 27, 2012

Today's headlines include reports about how increasing the Medicare eligibility age and making other entitlement program changes are a part of the ongoing "fiscal cliff" discourse.

27 Nov 2012

Chromosome 22q11.2 deletion syndrome anxiety linked to poorer adaptive behaviors

UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety -- but not intelligence -- is linked to poorer adaptive behaviors, such as self-care and communication skills, that affect daily life. The developmental syndrome, which is associated with a constellation of physical, cognitive and psychiatric problems, usually is apparent at birth or early childhood, and leads to lifelong challenges.

6 Nov 2012

ESDM improves social skills and brain responses to social cues

The Early Start Denver Model, a comprehensive behavioral early intervention program that is appropriate for children with autism spectrum disorder as young as 12 months, has been found to be effective in improving social skills and brain responses to social cues in a randomized controlled study published online today in the Journal of the American Academy of Child & Adolescent Psychiatry.

29 Oct 2012

Researchers identify how mosquito's immune system attacks specific infections

Researchers at the Johns Hopkins Bloomberg School of Public Health have determined a new mechanism by which the mosquitoes' immune system can respond with specificity to infections with various pathogens, including the parasite that causes malaria in humans, using one single gene.

20 Oct 2012

GENNET, BGI enter collaborative agreement for non-invasive fetal trisomy test

BGI, the world's largest genomics organization, and GENNET, a center for genetics, fetal medicine and assisted reproduction, jointly announced that they have entered a collaborative agreement on non-invasive fetal trisomy (NIFTY) test with the aim to significantly improve reproductive health in Czech and Slovak Republic. Th

17 Oct 2012

Study documents women's experiences after abnormal prenatal chromosomal microarray testing

We often hear that "knowledge is power." But, that isn't always the case, especially when the knowledge pertains to the health of an unborn child, with murky implications, at best. A new study, led by researchers from the Perelman School of Medicine at the University of Pennsylvania, begins to document this exception to the general rule.

24 Sep 2012

Maternal choline intake could essentially change fetal genetic expression into adulthood

Just as women are advised to get plenty of folic acid around the time of conception and throughout early pregnancy, new research suggests another very similar nutrient may one day deserve a spot on the obstetrician's list of recommendations.

24 Sep 2012

Clinton skewers GOP on Medicare, offers strong defense of Obama on health law

In former President Bill Clinton's speech to nominate Barack Obama for re-election, he made a point-by-point case to return Obama to a second term, lauding his efforts to strengthen Medicare and Medicaid and to pass the health law.

7 Sep 2012

$Fetal fraction of cfDNA does not vary significantly among pregnant women regardless of trisomy risk$

Fetal fraction of cfDNA does not vary significantly among pregnant women regardless of trisomy risk

A study published in The Journal of Maternal-Fetal and Neonatal Medicine demonstrates that the fraction of fetal cell-free DNA (cfDNA) in maternal blood is unaffected by the mother's presumed risk for trisomy, offering support for the use of non-invasive prenatal testing (NIPT) for detecting genetic conditions such as Down syndrome in a broad patient population.

28 Aug 2012

Walnuts provide key nutrients that may be essential in male reproductive health

Research published in the recent issue of Biology of Reproduction Papers-in-Press reports that 75 grams (approximately 2.5 ounces) of walnuts consumed per day improved sperm vitality, motility, and morphology (normal forms) in a group of healthy young men between 21-35 years of age.

17 Aug 2012

Associate director of Clinical Genetics receives Angelo DiGeorge Medal of Honor

Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the "22q and You" Center at The Children's Hospital of Philadelphia, received the Angelo DiGeorge Medal of Honor on July 6 at the 8th Biennial International 22q11.2 DS Conference in Lake Buena Vista, Florida. Ms. McDonald-McGinn, who began her career at CHOP in 1985, is the second person to receive this highly esteemed honor.

6 Aug 2012

Similar molecular pathways involved in intellectual disability due to Fragile X and Down syndromes

Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regulate the way nerve cells develop dendritic spines, the small extensions found on the surface of nerve cells that are crucial for communication in the brain.

3 Aug 2012

Adult human brain remarkably malleable and capable of new feats

There is growing evidence that, beyond what was previously believed, the adult human brain is remarkably malleable and capable of new feats -- even in the last decades of life.

2 Aug 2012

Many patients may benefit from day 5 embryo biopsy

Over the last several years Carolina Conceptions has been offering embryo biopsy to rule out chromosomal abnormalities and genetic diseases in future pregnancies. One of the downsides of the technique was that biopsies were performed after 3 days of embryo culture, which was later discovered to limit the ability of the embryo to undergo normal development. This actually reduced the chance of pregnancy, often erasing any advantage that was provided by the biopsy procedure.

21 Jul 2012

Memantine boosts memory function in people with Down syndrome

Researchers at the University of Colorado School of Medicine have found a drug that boosts memory function in those with Down syndrome, a major milestone in the treatment of this genetic disorder that could significantly improve quality of life.

18 Jul 2012

Down Syndrome News and Research

Latest Down Syndrome News and Research

Picaa app helps children and teenagers with some kind of cognitive, visual or hearing disability

Microarray analysis ‘best test for prenatal diagnosis’

Microarray technology provides comprehensive result during prenatal care of women

New prenatal genetic test results in more clinically relevant information

NAP and SAL injection during pregnancy improve memory, learning tasks in offsprings

First Edition: November 27, 2012

Chromosome 22q11.2 deletion syndrome anxiety linked to poorer adaptive behaviors

ESDM improves social skills and brain responses to social cues

Researchers identify how mosquito's immune system attacks specific infections

GENNET, BGI enter collaborative agreement for non-invasive fetal trisomy test

Study documents women's experiences after abnormal prenatal chromosomal microarray testing

Maternal choline intake could essentially change fetal genetic expression into adulthood

Clinton skewers GOP on Medicare, offers strong defense of Obama on health law

Fetal fraction of cfDNA does not vary significantly among pregnant women regardless of trisomy risk

Walnuts provide key nutrients that may be essential in male reproductive health

Associate director of Clinical Genetics receives Angelo DiGeorge Medal of Honor

Similar molecular pathways involved in intellectual disability due to Fragile X and Down syndromes

Adult human brain remarkably malleable and capable of new feats

Many patients may benefit from day 5 embryo biopsy

Memantine boosts memory function in people with Down syndrome

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

Down Syndrome News and Research

Latest Down Syndrome News and Research

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

Newsletters you may be interested in