Faulty energy production in brain cells leads to disorders ranging from Parkinson's to intellectual disability
Neuroscientist Patrik Verstreken of VIB (Flanders Institute for Biotechnology) and KU Leuven has shown for the first time that dysfunctional mitochondria in brain cells can lead to learning disabilities. The link between ...
Parkinson's & Movement disorders
May 17, 2013 |
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A cautionary tale on genome-sequencing diagnostics for rare diseases
Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing ...
Genetics
May 10, 2013 |
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Advance in tuberous sclerosis brain science
Doctors often diagnose tuberous sclerosis complex (TSC) based on the abnormal growths the genetic disease causes in organs around the body. Those overt anatomical structures, however, belie the microscopic ...
Neuroscience
May 09, 2013 |
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Geneticists find causes for severe childhood epilepsies
(Medical Xpress)—Using a state-of-the-art DNA sequencing technique, UA researchers have discovered genetic mutations underlying seizure disorders in previously undiagnosed children.
Neuroscience
May 07, 2013 |
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New study examines social isolation of young adults with autism spectrum disorder
Young adults with an autism spectrum disorder (ASD) are more likely to never see friends, never get called by friends, never be invited to activities and be socially isolated.
Autism spectrum disorders
May 02, 2013 |
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Bigger birth weight babies at greater risk of autism
(Medical Xpress)—The biggest study of fetal growth and autism to date has reported that babies whose growth is at either extreme in the womb are at greater risk of developing autism.
Autism spectrum disorders
May 01, 2013 |
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Relationship of medical interventions in childhood and prevalence of later intellectual disability
A study by Jeffrey P. Brosco, M.D., Ph.D., of the University of Miami, Florida, and colleagues examines the relationship between medical interventions in early childhood and the increasing prevalence of later intellectual ...
Pediatrics
Apr 29, 2013 |
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In autism, age at diagnosis depends on specific symptoms
The age at which a child with autism is diagnosed is related to the particular suite of behavioral symptoms he or she exhibits, new research from the University of Wisconsin–Madison shows.
Autism spectrum disorders
Apr 09, 2013 |
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New genetic evidence suggests continuum among neurodevelopmental and psychiatric disorders
A paper published this month in the prestigious medical journal The Lancet Neurology suggests that a broad spectrum of developmental and psychiatric disorders, ranging from autism and intellectual disability to schizophrenia, should ...
Genetics
Apr 05, 2013 |
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Autism linked to increased genetic change in regions of genome instability
(Medical Xpress)—Children with autism have increased levels of genetic change in regions of the genome prone to DNA rearrangements, so called "hotspots," according to a research discovery to be published ...
Autism spectrum disorders
Apr 03, 2013 |
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Researchers discover that errors in RNA splicing lead to a class of neurological disorders
(Medical Xpress)—Researchers have found that missteps in a basic cellular process, RNA splicing, is the culprit behind a class of rare neurological disorders manifested by intellectual disability and stunted development.
Genetics
Mar 29, 2013 |
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Down syndrome trial may hold key to learning
(Medical Xpress)—An ingredient used for decades in cough syrup, and to treat a variety of conditions, could hold the key to improving memory, language, and learning in people with Down syndrome.
Diseases, Conditions, Syndromes
Mar 26, 2013 |
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New mechanism for long-term memory formation discovered
UC Irvine neurobiologists have found a novel molecular mechanism that helps trigger the formation of long-term memory. The researchers believe the discovery of this mechanism adds another piece to the puzzle in the ongoing ...
Neuroscience
Mar 25, 2013 |
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New technology is key to better epilepsy treatment
(Medical Xpress)—University of Adelaide scientists are making a major impact on the understanding and diagnosis of epilepsy, which will lead to individualised treatments for sufferers.
Neuroscience
Mar 22, 2013 |
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Huge hospital burden for kids with intellectual disability
New research from the Telethon Institute for Child Health Research has shown that children with an intellectual disability or autism are up to ten times more likely to be admitted to hospital than unaffected children.
Pediatrics
Mar 01, 2013 |
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