New research has found that routine screening using a non-invasive test that analyzes fetal DNA in a pregnant woman’s blood can accurately detect Down’s syndrome and other genetic fetal abnormalities in the first trimester. Published early online in Ultrasound in Obstetrics & Gynecology, the...
A recent study has found that parents play an important part in screening for sleep problems in children with Down syndrome. These children often suffer from obstructive sleep apnoea, a condition which affects their breathing during sleep. Health professionals rely on parents' reports about...
Johns Hopkins researchers believe they may have discovered an explanation for the sleepless nights associated with restless legs syndrome (RLS), a symptom that persists even when the disruptive, overwhelming nocturnal urge to move the legs is treated successfully with medication.
Neurologists...
Researchers at the University of the Basque Country (UPV/EHU) and the Achucarro neurosciences centre have discovered a new therapy for the fragile X chromosome syndrome. This new therapy proposes the modulation of the cerebral endocannabinoid system in order to ameliorate the symptoms of the...
Transplants of blood-forming stem cells from umbilical cord blood may be an effective alternative to transplants of matched donor bone marrow stem cells to treat children with a rare, debilitating disease known as Hurler's syndrome (HS), according to results of a study published online in Blood...
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. The...
Researchers from the University of Alberta are helping children with Down syndrome who stutter find their voice and speak with ease. Stuttering is a common problem that affects almost half of all children with Down syndrome, yet despite the scope of the problem, little research exists about...
A syndrome common in women of reproductive age may place them at greater risk for hardening of the arteries, which predisposes them to heart attack and stroke, according to research published Feb. 15 in the American Journal of Physiology, Endocrinology and Metabolism. Glucose can stimulate an...
In the journal PLoS Biology, a team of scientists reports experiments showing how the gene defect of Angelman syndrome disrupts neurological processes that may be needed for memory and learning. In tests in mice, the team showed that a novel compound could restore the healthy processes. In a new...
Research led by Queen Mary, University of London, has shown that recovery from chronic fatigue syndrome (CFS) is possible for some patients, and has identified two treatments most likely to lead to recovery. The latest results from the PACE trial* show that cognitive behaviour therapy (CBT) and...
When dozens of people die in a seemingly random act of violence, we all need somebody or something to point fingers towards in order to make sense of it all. Many of those things being pointed at are completely valid; for example, gun control is important to think about as a contributor to...
I once went out with a guy who had Asperger's syndrome, something I knew because he told me, on our first date, by way of warning me that he might not always pick up on things like sarcasm.*Had he not disclosed this, I don't think I would have picked up on anything (I've seen much less ability...
Children with Prader-Willi syndrome may receive relief from sleep disorders after undergoing an adenotonsillectomy, suggests a new study from Nationwide Children's Hospital published in the November print issue of the Archives of Otolaryngology-Head and Neck Surgery. "Patients with Prader-Willi...
An Australian study reveals that people with the rare genetic disorder known as Prader-Willi Syndrome may have an impaired autonomic nervous system. This discovery opens up a new way of looking at the insatiable appetite experienced by all sufferers, as well as their very high risk of...
Almirall, S.A. (ALM:MC) and Ironwood Pharmaceuticals, Inc. (NASDAQ: IRWD) have announced that the European Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion recommending the marketing approval for Constella® (linaclotide 290 micrograms), for the symptomatic...
Inflammation and cell stress play important roles in the death of insulin-secreting cells and are major factors in diabetes. Cell stress also plays a role in Wolfram syndrome, a rare, genetic disorder that afflicts children with many symptoms, including juvenile-onset diabetes. Now a molecule...
they argue with you? Appeals to emotion are irrelevant. The triumph of logic and reason is inevitable. Resistance is futile. You will be assimilated. Thank you, drive through.
@Omar: Troll deez nutz.
@Homosexual Agenda: No doubt. But you have to admit, we get to channeling Spock pretty...
C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in 1969. This is what a study in The American Journal of Human Genetics...
The drug rituximab, an antibody that targets the immune system and is often used to treat immune disorders such as lymphoma and arthritis, has recently emerged as a potential treatment for a childhood kidney disorder known as idiopathic nephrotic syndrome (INS). While the cause of INS is not...
Photographs of children with Down syndrome elicit less positive attitudes than photographs of typically developing children do, reports new research published in the open access journal PLoS ONE. This effect was strongest for photographs of children with features that are "strongly typical" of...