Mental Retardation News and Research

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Dysregulation of CISTR-ACT causes brachydactyly type E

The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E (Greek for short fingers).

6 Nov 2012

Dysfunction in SRGAP3 protein causes developmental brain disorders

A new research discovery has the potential to revolutionize the biological understanding of some childhood psychiatric disorders. Specifically, scientists have found that when a single protein involved in brain development, called "SRGAP3," is malformed, it causes problems in the brain functioning of mice that cause symptoms that are similar to some mental health and neurological disorders in children.

1 Nov 2012

Longer looks: A Nobel for the economist behind the National Resident Matching Program; Helping Charlie end his life

A noted economist at Harvard, (Al) Roth was responsible for algorithms that matched medical students with their residency programs, children with their schools in Boston, and more recently, compatible kidney donors and transplant patients in paired donations.

19 Oct 2012

Protocol allows researchers to generate functional thyroid tissue from stem cells

The generation of functional thyroid tissue from stem cells could allow the treatment of patients, which suffer from thyroid hormone deficiency due to defective function, or abnormal development of the thyroid gland.

12 Oct 2012

Novel target identified for fragile X-linked autism

Researchers have elucidated a novel mechanism through which fragile X syndrome may contribute to behavioural symptoms of autism and identified a potential therapeutic target.

1 Oct 2012

Intellectual disability often results from genetic causes that are not inherited

New research published Online First in The Lancet suggests that a high proportion of severe intellectual disability results from genetic causes that are not inherited. These findings are good news for parents, indicating a low risk of passing on the disorder to further children.

28 Sep 2012

Combination of two neuroprotective therapies shows promise against Alzheimer's

The combination of two neuroprotective therapies, voluntary physical exercise, and the daily intake of melatonin has been shown to have a synergistic effect against brain deterioration in rodents with three different mutations of Alzheimer's disease.

27 Sep 2012

Study finds drug may aid some autism patients

An experimental drug can improve sociability in patients with fragile X syndrome and may be helpful as a treatment for autism, according to the authors of a new study.

21 Sep 2012

First Edition: September 20, 2012

Today's headlines include reports that the health law's penalty for not obtaining health insurance could hit as many as 6 million people.

21 Sep 2012

Scripps Florida designs new compound that shows promise against tremor ataxia syndrome

Scientists on the Florida campus of The Scripps Research Institute have designed a compound that shows promise as a potential therapy for one of the diseases closely linked to fragile X syndrome, a genetic condition that causes mental retardation, infertility, and memory impairment, and is the only known single-gene cause of autism.

6 Sep 2012

External stimulation impacts postnatal development of brain's white matter

A team at Children's National Medical Center has found that external stimulation has an impact on the postnatal development of a specific region of the brain. Published in Nature Neuroscience, the study used sensory deprivation to look at the growth and collection of NG2-expressing oligodendrocyte progenitor cells (NG2 cells) in the sensory cortex of the brain.

14 Aug 2012

Molecular missteps disrupt brain function in adult-onset muscular dystrophy

The molecular missteps that disrupt brain function in the most common form of adult-onset muscular dystrophy have been revealed in a new study published by Cell Press. Myotonic dystrophy is marked by progressive muscle wasting and weakness, as well as excessive daytime sleepiness, memory problems, and mental retardation.

10 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

PHF21A gene plays a big role in Potocki-Shaffer syndrome

A gene whose mutation results in malformed faces and skulls as well as mental retardation has been found by scientists.

6 Jul 2012

Researchers use mouse model of autism to treat CTD

Using a mouse model of autism, researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have successfully treated an autism spectrum disorder characterized by severe cognitive impairment.

3 Jul 2012

Scientists identify cause of double-cortex syndrome

Researchers at McGill University have discovered the cause of an inherited form of epilepsy. The disease, known as double-cortex syndrome, primarily affects females and arises from mutations on a gene located on the X chromosome. Drs. Susanne Bechstedt and Gary Brouhard of the Department of Biology have used a highly advanced microscope to discover how these mutations cause a malformation of the human brain.

22 Jun 2012

Study strengthens link between HHV-6B and mesial temporal lobe epilepsy

A ten-year NIH-funded study has determined that a third of infants with prolonged seizures and fever suffer from either a new or reactivated roseola virus infection. Roseola viruses are the cause of the common childhood rash, but can also cause limbic encephalitis, a condition that frequently progresses to epilepsy. Investigators discovered one of the roseola viruses, human herpesvirus-6B (HHV-6B) in the blood of 32% of 169 infants with prolonged seizures, a condition known as status epilepticus.

15 Jun 2012

FDA approves Menhibrix for vaccination against meningococcal and Hib diseases

The U.S. Food and Drug Administration today approved Menhibrix, a combination vaccine for infants and children ages 6 weeks through 18 months, for prevention of invasive disease caused by Neisseria meningitidis serogroups C and Yand Haemophilus influenzae type b.

15 Jun 2012

Researchers uncover insights into rare genetic disorders

Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a bracelet that encircles chromosome pairs, scientists have discovered mutations that disrupt cohesin, causing a recently recognized class of diseases called cohesinopathies.

30 May 2012

CHOC Children's research project receives $5.5M CIRM grant

A CHOC Children's research project, under the direction of Philip H. Schwartz, Ph.D., senior scientist at the CHOC Children's Research Institute and managing director of the facility's National Human Neural Stem Cell Resource, has been awarded a $5.5 million grant from the California Institute for Regenerative Medicine.

30 May 2012