Some kids with autism may have a genetic defect that affects the muscles, according to research that will be presented at the American Academy of Neurology 60th Anniversary Annual Meeting in Chicago, April 12–19, 2008.
The study looked at 37 children with autism spectrum disorders who were evaluated for mitochondrial disease, which causes muscle weakness and prevents a child from being able to participate in physical activities and sports. Mitochondrial disease occurs when genetic mutations affect the mitochondria, or the part of the cell that releases energy.
A total of 24 of the children, or 65 percent, had defects in the process by which cells produce and synthesize energy in the muscles, or oxidative phosphorylation defects in the skeletal muscles.
“Most children with autism spectrum disorders do not have recognizable abnormalities when you look at genetic tests, imaging, and metabolic tests,” said study author John Shoffner, MD, owner of Medical Neurogenetics, LLC in Atlanta, GA, and member of the American Academy of Neurology. “But a subset of these children does have significant defects in this area. Identifying this defect is important for understanding how genes that produce autism spectrum disorders impact the function of the mitochondria.”
Source: American Academy of Neurology
Related stories:
Study supports theory that rise in autism is related to changes in diagnosis
Research funded by the Wellcome Trust suggests that many children diagnosed with severe language disorders in the 1980s and 1990s would today be diagnosed as having autism. The research supports the theory that the rise in the number of cases of autism may be related to changes in how it is diagnosed.
Brain network linked to contemplation in adults is less complex in children
A brain network linked to introspective tasks -- such as forming the self-image or understanding the motivations of others -- is less intricate and well-connected in children, scientists at Washington University School of Medicine in St. Louis have learned. They also showed that the network establishes firmer connections between various brain regions as an individual matures.
Autism's origins: Mother's antibody production may affect fetal brain
The mothers of some autistic children may have made antibodies against their fetuses’ brain tissue during pregnancy that crossed the placenta and caused changes that led to autism, suggests research led by Johns Hopkins Children’s Center investigators and published in the February issue of the
Journal of Neuroimmunology.
Research may unlock mystery of autism's origin in the brain
In the first study of its kind, researchers have discovered that in autistic individuals, connections between brain cells may be deficient within single regions, and not just between regions, as was previously believed.
Study discovers link between increased white matter and poor motor skills in children with autism
A study published in the August issue of the journal
Brain demonstrates, for the first time, an association between increased white matter volume and functional impairment in children with autism.
No link found between autism and celiac disease
Contrary to previous studies, autistic children are no more likely than other children to have celiac disease, according to new research that will be presented at the American Academy of Neurology’s 59th Annual Meeting in Boston, April 28 – May 5, 2007.
Lack of fragile X and related gene fractures sleep
Lack of both the fragile X syndrome gene and one that is related could account for sleep problems associated with the disorder, which is the common cause of inherited mental impairment, said a consortium of researchers led by scientists at Baylor College of Medicine in Houston. Their findings appear in a report in the current issue of the
American Journal of Human Genetics.
Study shows 3-month-olds are sensitive to emotional cues referring to objects in the world
Scientists have discovered that three-month-old infants are sensitive to emotional signals that refer to objects in the world. It was once thought that young infants could only process social signals that were directed at them. However, in a new study published in
PLoS ONE, researchers from Hunter College and the Max Planck Institute for Human Cognitive and Brain Scientists show that three-month-old infants go beyond face-to-face social interactions: they even use social cues to process objects in the world around them.