Down’s Syndrome News and Research

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Study reveals role of SNX27 protein in brain function

What is it about the extra chromosome inherited in Down syndrome-chromosome 21-that alters brain and body development? Researchers at Sanford-Burnham Medical Research Institute have new evidence that points to a protein called sorting nexin 27, or SNX27.

25 Mar 2013

Pregnancy-associated plasma protein A predicts cardiovascular events: Study

Higher levels of pregnancy-associated plasma protein A were associated with an increased risk of cardiovascular events in people with cardiac chest pain that developed as a result of heart disease/coronary artery disease, according to a study published in CMAJ.

19 Mar 2013

Study suggests screening tests to identify children with down syndrome who have OSA

Researchers at the University of Southampton are planning to investigate tests for a breathing disorder that affects babies and children who have Down syndrome while they sleep. They aim to provide the missing evidence so that doctors can introduce affordable and simple routine screening.

16 Mar 2013

Breathing disorder tests for Down syndrome children to be investigated by researchers at the University of Southampton

15 Mar 2013

Non-invasive prenatal genetic screening: an interview with Dr. Charles Strom, Senior Medical Director, Quest Diagnostics

A new category of non-invasive genetic screening tests is gaining a great deal of interest in the medical field – including from Quest Diagnostics -- for its potential to help screen women during pregnancy for genetic abnormalities known as trisomies, the most common of which is Down syndrome.

From Quest Diagnostics 13 Mar 2013

University of Alberta researchers help children with Down syndrome

Researchers from the University of Alberta are helping children with Down syndrome who stutter find their voice and speak with ease.

26 Feb 2013

Quest Diagnostics offers access to a new non-invasive prenatal test developed by Natera

Quest Diagnostics (NYSE:DGX), the world’s leading diagnostic information services company, and Natera, a leading innovator in prenatal genetic testing, today announced that Quest Diagnostics will offer physicians access to Panorama™, a new non-invasive prenatal test developed by Natera.

From Quest Diagnostics 21 Feb 2013

Computer-based cognitive/behavioral training program can benefit patients with fragile X

Researchers at the UC Davis MIND Institute will examine whether children and youth with fragile X syndrome can improve their working memory, cognition and behavior by using an online computer-based cognitive training program, through a new $1 million grant from The John Merck Fund.

14 Feb 2013

Ultrasound signs can predict Down’s syndrome

Ultrasound markers that can be detected in the second trimester of pregnancy are strongly predictive for Down’s syndrome, show findings from a systematic review and meta-analysis.

4 Feb 2013

CUMC receives $7M to help establish Weinberg Family Cerebral Palsy Center

Seeking to bridge the transition from pediatric to adult care for people living with cerebral palsy, Debby and Peter A. Weinberg, with several of their family members and friends, have given more than $7 million to help establish the Weinberg Family Cerebral Palsy Center at Columbia University Medical Center (CUMC).

31 Jan 2013

Some second trimester markers for Down’s syndrome more telling than others

A new analysis has found that some second trimester markers for Down’s syndrome that are detected by ultrasound are more telling than others. Published early online in Ultrasound in Obstetrics & Gynecology, the study’s results will help adjust pregnant women’s risks for having a child with the condition.

30 Jan 2013

Study investigates muscle weakness in mouse model of Down syndrome

It is well known that people with Down syndrome (DS) suffer from marked muscle weakness. Even the simple tasks of independent living, such as getting out of a chair or climbing a flight of stairs, can become major obstacles. This can reduce the quality of life for those with DS and lead to a loss of independence. Now, a new study sheds light on some of the suspected causes of muscle weakness.

18 Dec 2012

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

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