A new study, published by Cell Press in the journal Neuron, discovers several genes associated with autism and finds evidence for a shared genetic mechanism underlying autism and fragile X syndrome, the most common genetic cause of intellectual disability. It is well established that genetic variation caused by mutation can lead to autism spectrum disorders, and research has repeatedly implicated "de novo" (new) mutations, those that show up for the first time in affected children, as being particularly relevant. Identification of the specific genes associated with autism may lead to much needed advances in the diagnosis and treatment of autism spectrum disorders. The current study, led by Dr. Michael Wigler from Cold Spring Harbor Laboratory, used gene sequencing methods to look at nearly 350 families with healthy children and children on the autistic spectrum, part of the larger Simons Simplex Collection.
A recent study finds that a new compound reverses many of the major symptoms associated with Fragile X syndrome (FXS), the most common form of inherited intellectual disability and a leading cause of autism. The paper, published by Cell Press in the April 12 issue of the journal Neuron, describes the exciting observation that the FXS correction can occur in adult mice, after the symptoms of the condition have already been established. Fragile X patients suffer from a complex set of neuropsychiatric symptoms of varying severity which include anxiety, hyperactivity, learning and memory deficits, low IQ, social and communication deficits, and seizures. Previous research has suggested that inhibition of mGlu5, a subtype of receptor for the excitatory neurotransmitter glutamate, may be useful for ameliorating many of the major symptoms of the disease.
With autism on the rise and an increasing concern for parents, doctors have searched for ways to treat the problem. Repetitive and other behavioral traits associated with the syndrome can hold children back in school and put stress on family life. It seems, however, that using anti-depressants is not necessarily the best solution. Analysis of five published articles and five unpublished completed trials is showing that serotonin receptor inhibitors (SRIs), generally used as anti depressants, have been over rated in terms of treating autism. The article, "Pharmacologic Treatment of Repetitive Behaviors in Autism Spectrum Disorders: Evidence of Publication Bias", is published by the The American Academy of Pediatrics. The researchers used meta-analysis to discover that studies with positive results for treating autism with serotonin receptor inhibitors are more likely to be published than those showing negative or neutral results.
An experimental medication was found to reduce autism symptoms in mice, resulting in improved social skills and fewer repetitive behaviors, researchers from the NIH (National Institutes of Health) reported. The study has been published in Science Translational Medicine. The authors explained that so far, no cure has been found for ASPs ( autism spectrum disorders). The experimental drug is currently called GRN-529, and has been developed by pharmaceutical giant, Pfizer. The researchers stressed that although the results of the animal trial show promise, therapies which work on animals do not necessarily do the same with humans. It is thought that approximately 1% of children suffer from some kind of ASD, ranging from mild to severe. Signs and symptoms may include delayed language skills, repetitive movements, social difficulties, obsessions, high anxiety, and an extremely strong desire for routine and structure.
New Genes Contributing To Autism And Related Neurodevelopmental Disorders Uncovered By Researchers Studying Chromosomal Abnormalities
When chromosomes replicate, sometimes there is an exchange of genetic material within a chromosome or between two or more chromosomes without a significant loss of genetic material. This exchange, known as a balanced chromosomal abnormality (BCA), can cause rearrangements in the genetic code. Researchers from 15 institutions in three countries including Brigham and Women's Hospital (BWH), Massachusetts General Hospital, Harvard Medical School, and the Broad Institute found that due to these rearrangements, BCAs harbor a reservoir of disruptions in the code that could lead to autism and other neurodevelopmental disorders. The researchers also uncovered 22 new genes that may contribute to or increase the risk of autism or abnormal neurodevelopment. The study will be published in the print issue of Cell on April 27, 2012.