Diagnosis

ICare4autism To Create World's First Global Autism Research And Education Center

Source: 
Medical News Today
Date Published: 
December 13, 2010
Abstract: 

The International Center for Autism Research and Education (ICare4autism), a New York-based charity, announced plans to create the world's first Global Autism Center on Mt. Scopus in Israel, dedicated to catalyzing breakthrough innovation in autism research and treatment. In a ceremony at Jerusalem's City Hall hosted by Mayor Nir Barkat, ICare4autism's President Joshua Weinstein signed an agreement paving the way for ICare4autism to acquire the campus of Bezalel Academy of Art in 2013, and convert it into a center.

Mitochondrial Dysfunction in Autism

Source: 
Journal of the American Medical Association, Giulivi et al
Date Published: 
December 2010
Year Published: 
2010

Children with autism are far more likely to have deficits in their ability to produce cellular energy than are typically developing children. While the study is small (10 test subjects) and requires replication, it furthers previous research which has revealed hints of a mitochondrial dysfunction/autism connection. The researchers found that mitochondria from children with autism consumed less oxygen than mitochondria from the group of control children. For example, the oxygen consumption of one mitochondrial enzyme complex, NADH oxidase, in autistic children was only 33% of that found in control children. While Giulivi cautions that this study has not found the cause of autism, she states that it "...furthers the understanding of autism on several fronts and may, if replicated, be used to help physicians diagnose the problem earlier."

Describing the Brain in Autism in Five Dimensions-Magnetic Resonance Imaging Assisted Diagnosis of Autism Spectrum Disorder Using a Multiparameter Classification Approach

Source: 
Journal of Neuroscience, Ecker et al
Date Published: 
December 2010
Year Published: 
2010

The study tested a group of 20 high functioning adults with autism, together with 20 control adults, to determine whether MRI scans can detect autism. Using left hemisphere cortical thickness, the algorithm could achieve 90% accuracy, however the right hemisphere was worse at differentiating between the two groups. The study shows that it is feasible to use analytic techniques in MRI to investigate differences in the autistic brain.

Children With Autism Have Mitochondrial Dysfunction, Study Finds

Source: 
Science Daily
Date Published: 
November 30, 2010
Abstract: 

Children with autism are far more likely to have deficits in their ability to produce cellular energy than are typically developing children, a new study by researchers at UC Davis has found. The study, published in the Journal of the American Medical Association (JAMA), found that cumulative damage and oxidative stress in mitochondria, the cell's energy producer, could influence both the onset and severity of autism, suggesting a strong link between autism and mitochondrial defects.

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

Source: 
Cell, Marchetto et al
Date Published: 
November 2010
Year Published: 
2010

Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which different combinations of genetic mutations may contribute to the phenotype. Using Rett syndrome (RTT) as an ASD genetic model, we recapitulate early stages of a human neurodevelopmental disease, using induced pluripotent stem cells (iPSCs) from RTT patients' fibroblasts, which essentially creates a "disease in a dish". The data uncovered early alterations in developing human RTT neurons and suggest evidence of an unexplored developmental window, before disease onset, in RTT syndrome where potential therapies could be successfully employed. Our model represents a promising cellular tool for drug screening, diagnosis and personalized treatment.

Scientists One Step Closer to Diagnosing Autism with MRI

Source: 
Sify News
Date Published: 
October 13, 2010
Abstract: 

Researchers at the University of Utah (U of U) are one step closer to diagnosing autism using MRI, an advance that eventually could help health care providers identify the problem much earlier in children and lead to improved treatment and outcomes for those with the disorder.

Neonatal Jaundice Linked to Autism

Source: 
MedPage Today
Date Published: 
October 11, 2010
Abstract: 

Full-term neonates with jaundice are at greatly increased risk of later being diagnosed with a disorder of psychological development, a Danish study found. Neonatal jaundice typically is caused by increased bilirubin production and inadequate liver excretory function. Recent research has suggested that even moderate bilirubin exposure in very young children can be harmful, possibly leading to impairments in their development. They found that jaundice was more common among boys, infants born preterm, infants with congenital malformations, and low-birthweight infants.

New Genetic Risk Factor for Both Autism and Schizophrenia

Source: 
Science Daily
Date Published: 
November 4, 2010
Abstract: 

Researchers have uncovered a prominent genetic risk factor for autism spectrum disorders and schizophrenia is a small genomic deletion. Remarkably, they found the same deletion on chromosome 17 in 24 separate patients. This CNV was absent in 52,448 controls, making the finding statistically significant. Someone with this deletion is 13.58 times more likely to develop ASD or schizophrenia than is someone lacking this CNV. This gene mutation is also known to cause kidney disease (renal cysts and diabetes syndrome, RCAD).

Language Delays Found in Siblings of Children with Autism

Source: 
Medical News Today
Date Published: 
October 3, 2010
Abstract: 

A new study, led by researchers at Washington University School of Medicine in St. Louis, found mild traits, not strong enough to provoke a diagnosis of autism, seem to be present in the siblings of affected children at significantly higher rates than seen in the general population.

Siblings of children with autism have more frequent language delays and other subtle characteristics of the disorder than previously understood. Girls also may be mildly affected more often than recognized in the past.

Link to Autism in Boys Found in Missing DNA

Source: 
Science Daily
Date Published: 
September 15, 2010
Abstract: 

If a boy's X-chromosome is missing the PTCHD1 gene or other nearby DNA sequences, they will be at high risk of developing ASD or intellectual disability. Girls are different in that, even if they are missing one PTCHD1 gene, by nature they always carry a second X-chromosome, shielding them from ASD.