Mental Retardation News and Research

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Study implicates Fritz's role in human genetic disorders

Mutations in a gene known as "Fritz" may be responsible for causing human genetic disorders such as Bardet-Biedl syndrome, University of Texas at Austin developmental biologist John Wallingford and Duke University human geneticist and cell biologist Nicholas Katsanis have found.

31 Jul 2010

Louisiana's Medicaid rate cuts kick in Aug. 1; Other states seek health program assistance, make tough choices to balance budgets

"The rates paid to many of the private health providers in Louisiana's Medicaid program will fall Sunday to trim spending by $168 million in the program that provides care to the poor, elderly and disabled. The latest cuts to private hospitals, home- and community-based care providers, doctors and specialty service providers are the final piece of balancing this year's $6.5 billion Medicaid budget. Department of Health and Hospitals Undersecretary Jerry Phillips said Medicaid funding was cut by $277 million in the 2010-11 fiscal year that began July 1."

31 Jul 2010

Genetics research team discovers new recurrent translocations

A genetics research team based at The Children's Hospital of Philadelphia continues to discover recurrent translocations—places in which two chromosomes exchange pieces of themselves. As many as 1 in 600 persons carry balanced chromosome translocations, which involve no loss or gain of DNA. Most such people appear healthy, but may have a child with abnormal chromosome composition and disabilities resulting from disrupted, extra or missing copies of genes.

30 Jul 2010

Researchers identify genetic mutation for Uner Tan Syndrome

A team of researchers from leading universities in Turkey and the United States have reported that they have identified the genetic mutation responsible for the Uner Tan Syndrome (UTS) using advanced genetic capture and sequencing technologies from Roche. The combined genomic technologies enabled the team of scientists to identify the causative mutation of this debilitating disease after years of mystery.

30 Jul 2010

Quest Diagnostics' Fragile X Syndrome test receives New York State health department approval

An accurate, faster testing option to identify female carriers and other patients with genetic abnormalities that cause Fragile X Syndrome is now available to physicians in all fifty states with the recent approval in New York. Fragile X is the leading cause of inherited mental retardation and the most common known single gene cause of autism.

From Quest Diagnostics 29 Jul 2010

Need for better understanding of appropriate treatment choices for children with insomnia: Study

A new survey of child psychiatrists indicates that insomnia is a major problem among children in mental health treatment and at least a quarter of these patients are given sleep medication. The results of the survey, conducted by Judith Owens, MD, a sleep expert with Hasbro Children's Hospital, and colleagues, suggests that management of insomnia in this population is a common practice, although the clinical approach varies widely. The study is published in the August 2010 edition of Sleep Medicine.

27 Jul 2010

Asuragen reports collaborative study results of advanced PCR-based molecular profiling of FMR1 gene

Asuragen, Inc. announced today the results from two collaborative studies, one with the University of California Davis M.I.N.D. Institute and another with Rush University Medical Center, that demonstrate comprehensive molecular profiling of the Fragile X Mental Retardation (FMR1) gene using advanced PCR-based methods.

26 Jul 2010

Research on new treatments for FXS to be presented at International Fragile X Conference

Accelerated research findings leading to potentially significant new treatments for fragile X syndrome will be presented to nearly 1,000 family members and professionals at the 12th International Fragile X Conference in Dearborn July 21-25.

23 Jul 2010

Olig1 and Olig2 genes are associated with Down syndrome, scientists identify

Down syndrome is a well known cause of mental retardation and other medical problems, including early onset of Alzheimer disease. It has long been known that Down syndrome is associated with an individual having an additional copy of chromosome 21. Research findings reported in the July 18 advanced online publication of Nature Neuroscience have narrowed down the critical genetic elements responsible for some aspects of Down syndrome.

19 Jul 2010

New research focuses on calcium channels in lysosome membrane

In cells, as in cities, disposing of garbage and recycling anything that can be reused is an essential service. In both city and cell, health problems can arise when the process breaks down.

15 Jul 2010

Subtle mutation affecting epigenome may lead to inherited form of mental retardation: Researchers

A subtle mutation affecting the epigenome –- a set of dynamic factors that influence gene activity -- may lead to an inherited form of mental retardation that affects boys, find researchers at Children's Hospital Boston. The disorder, which also involves cleft lip or cleft palate, appears to hinge on an enzyme working in a biological pathway that may offer several potential drug targets.

12 Jul 2010

Scientists identify potential disease genes in humans and mice

An international consortium of scientists of Helmholtz Zentrum München and the University of Toronto has identified previously unknown potential disease genes in humans and mice. Genes on the X chromosome, which regulate embryonic development, are the focus of the current publication in the renowned journal Genome Research. Men have only one X chromosome, and therefore mutations on this chromosome disproportionately affect males, frequently leading to serious diseases such as hemophilia, muscular dystrophy and mental retardation.

7 Jul 2010

Rubella epidemic played a major role in shifting public attitudes toward abortion laws

Ten years before the 1973 Supreme Court decision legalizing abortion - which likely will be a focus of Senate confirmation questions for Supreme Court nominee Elena Kagan next week - German measles probably played the biggest part in starting to shift public attitudes about the criminal abortion laws, University of Illinois historian Leslie J. Reagan says in a new book.

29 Jun 2010

Mutation in ion channel that changes its dynamics is implicated in epilepsy: Scientists

In 2004, Washington University in St. Lous researcher Jianmin Cui was handed a puzzling clue to the structure of an ion channel his lab had been studying for five years.

24 Jun 2010

Studies suggest role for IL-10 in prevention and treatment of neurological disease in newborns

This bacterium, Escherichia coli K1, is the most common cause of meningitis in premature infants and the second most common cause of the disease in newborns. "The ineffectiveness of antibiotics in treating newborns with meningitis and the emergence of antibiotic-resistant strains of bacteria require new strategies," explains Nemani V. Prasadarao, PhD, associate professor of infectious disease at Childrens Hospital Los Angeles.

17 Jun 2010

Fertility drugs cause multiple and premature births

The widespread use of fertility drugs, not just high-tech laboratory procedures, plays a major role in causing multiple births and contributes to the problem of premature birth in the United States, experts said today at the March of Dimes National Communications Advisory Council luncheon.

17 Jun 2010

Researchers study science and clinical treatment of FAS

It's long been known that alcohol use in pregnancy can lead to children with mental retardation and birth defects, but researchers who study fetal alcohol syndrome have not made definitive progress on preventing the disorder, detecting it early, or effectively treating it, say researchers from Georgetown University Medical Center.

16 Jun 2010

Protein IL-10 removes Escherichia coli K1 bacterium from blood and reverses brain damage

A team of researchers at Childrens Hospital Los Angeles (CHLA), along with colleagues from the Keck School of Medicine of the University of Southern California and the Universite Auvergne, France, have discovered an important role for a small, naturally occurring protein called interleukin-10 (IL-10) in removing bacteria from the blood of infected mice and reversing damage to the brain.

11 Jun 2010

Brain stimulation with ultrasound may enhance cognitive function

The ability to diagnose and treat brain dysfunction without surgery, may rely on a new method of noninvasive brain stimulation using pulsed ultrasound developed by a team of scientists led by William "Jamie" Tyler, a neuroscientist at Arizona State University. The approach, published in the journal Neuron on June 9, shows that pulsed ultrasound not only stimulates action potentials in intact motor cortex in mice but it also "elicits motor responses comparable to those only previously achieved with implanted electrodes and related techniques," says Yusuf Tufail, the lead author from ASU's School of Life Sciences.

10 Jun 2010

Research findings hold promise for debilitating emotional symptoms of FXS

The study, which appears in the journal the Proceedings of the National Academy of Sciences, is also of potential therapeutic significance-it showed that a brief pharmacological treatment is capable of correcting some of these synaptic deficits in mice genetically engineered to model FXS.

9 Jun 2010