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Mutant mice show key autism traits

Researchers found that mutant mice displayed major abnormalities in social interactions, including reduced interest in new mice and impaired nest-forming behavior. The mice also showed hyperactivity, anxiety-like behaviors, seizures, and decreased learning, all characteristic of autism spectrum disorder (ASD).

SourceCell Press·JournalNeuron·DateMay 3, 2006

Researchers identify new childhood-onset epilepsy disorder and its genetic cause

A new childhood-onset epilepsy disorder, cortical dysplasia-focal epilepsy syndrome (CDFE), has been identified in a group of Old Order Amish children. The disorder is caused by a genetic mutation in the CASPR2 protein, which plays a crucial role in maintaining physical contacts between neurons and neighboring glial cells.

SourceThe Translational Genomics Research Institute·JournalNew England Journal of Medicine·DateMar 29, 2006

Brain research wins $1 million

Dr Anthony Hannan from the Howard Florey Institute has won a $1 million Pfizer Australia Research Fellowship to study environmental factors that delay degenerative brain diseases. His recent work showed that mental and physical exercise can slow down HD progression in mice, challenging genetic determinism.

Brain enlargement may be characteristic of autism

Researchers found significant brain volume enlargement in children with autism, particularly in white and gray matter, which affects the cerebral cortex responsible for thought, perception, and memory. The study suggests that this enlargement may begin as late as the first year of life, during the postnatal period.

SourceJAMA Network·JournalArchives of General Psychiatry·DateDec 5, 2005

Autism problems explained in new research

Research using fMRI technology found reduced activity in the caudate nucleus, a critical part of prefrontal brain circuits, in boys with autism. This impairment affects attention, problem-solving, and learning abilities. The study's findings may help develop better therapies for children with autism.

SourceResearch Australia·JournalAmerican Journal of Psychiatry·DateOct 24, 2005

Multiple genetic 'flavors' may explain autism

Recent studies suggest that multiple rare mutations within a single gene may increase risk for autism. The SERT gene regulates brain levels of serotonin, which is involved in various biological processes and has been found to be elevated in about 25% of people with autism. SSRIs have improved some symptoms, leading scientists to propos...

SourceVanderbilt University Medical Center·JournalProceedings of the National Academy of Sciences·DateJul 25, 2005

Three reasons not to believe in an autism epidemic

Researchers identify three reasons to be cautious about an autism epidemic, including a flawed California study and the lack of reporting category for autism in public schools. They propose that the increase in diagnoses may be due to broadened diagnostic criteria and increased public awareness.

SourceBlackwell Publishing Ltd.·JournalCurrent Directions in Psychological Science·DateJun 29, 2005

Study strengthens link between Foxp2 gene and language development

Researchers have found that disruption of the Foxp2 gene affects the ability of infant rodents to emit ultrasonic vocalizations, which is crucial for social communication. The study suggests that Foxp2 subsumes communication across species, enabling researchers to learn about human speech and articulation.

SourceThe Mount Sinai Hospital / Mount Sinai School of Medicine·JournalProceedings of the National Academy of Sciences·DateJun 21, 2005

Treating autism 'right the first time'

A new study developed a predictive profile of children likely to respond to Pivotal Response Training (PRT), a child-directed behavioral intervention. The study successfully matched autistic children with an appropriate therapy, leading to significant gains in language skills, play skills, and social behaviors.

SourceUniversity of California - San Diego·JournalJournal of Consulting and Clinical Psychology·DateJun 1, 2005

Gene mutated in cancer found in some with autism

Research led by Ohio State University found a mutation in the PTEN gene in three people with autism and large heads, raising concerns about an increased cancer risk. The study suggests that individuals with autism and macrocephaly should be offered genetic counseling and testing for PTEN mutations.

SourceOhio State University·JournalJournal of Medical Genetics·DateApr 7, 2005

Mayo Clinic study suggests no link between autism and immunizations

A Mayo Clinic study analyzed data from the Rochester Epidemiology Project and found a stable incidence of autism until 1988-1991, then increased with new diagnostic criteria and special education laws. Researchers identified 124 children meeting current diagnostic criteria for autism out of 3,000 with related diagnoses.

SourceMayo Clinic·JournalArchives of Pediatrics and Adolescent Medicine·DateJan 3, 2005

Brain inflammation found in autism

Researchers have found brain inflammation associated with autism, suggesting immune activation plays a role in the disorder. The study's findings support the theory that immune activation is involved in autism, but further research is needed to understand its benefits and drawbacks.

SourceWiley·JournalAnnals of Neurology·DateNov 15, 2004