Autism

University of North Carolina School of Medicine
 
Autism, schizophrenia and bipolar disorder may share common underlying factors, study suggests

New research led by a medical geneticist at the University of North Carolina School of Medicine points to an increased risk of autism spectrum disorders (ASDs) among individuals whose parents or siblings have been diagnosed with schizophrenia or bipolar disorder.

The findings were based on a case-control study using population registers in Sweden and Israel, and the degree to which these three disorders share a basis in causation “has important implications for clinicians, researchers and those affected by the disorders,” according to a report of the research published online July 2, 2012 in the Archives of General Psychiatry.
“The results were very consistent in large samples from several different countries and lead us to believe that autism and schizophrenia are more similar than we had thought,” said Patrick F. Sullivan, MD,
FRANZCP, professor in the department of genetics and director of psychiatric genomics at UNC.

Sullivan and colleagues found that the presence of schizophrenia in parents was associated with an almost three times increased risk for ASD in groups from both Stockholm and all of Sweden.
Schizophrenia in a sibling also was associated with roughly two and a half times the risk for autism in the Swedish national group and a 12 times greater risk in a sample of Israeli military conscripts. The authors speculate that the latter finding from Israel resulted from individuals with earlier onset schizophrenia, “which has a higher sibling recurrence.”
Bipolar disorder showed a similar pattern of association but of a lesser magnitude, study results indicate.
Our findings suggest that ASD, schizophrenia and bipolar disorder share etiologic risk factors,” the authors state. “We suggest that future research could usefully attempt to discern risk factors common to these disorders.”

Study co-authors with Sullivan are Cecilia Magnusson, MD,PhD, Christina M. Hultman, PhD, Niklas Langstrom, MD, PhD, Paul Lichtenstein, PhD, Marcus Bowman, BS, Christina Dalman, MD, PhD, Anna C. Svensson, PhD and Michael Lundberg, MPH, Karolinska Institute, Stockholm, Sweden; Abraham Reichenberg, PhD, Kings College, London, England; Michael Davidson MD, and Mark Weiser, MD, Sheba Medical Center and Tel Aviv University, Israel; Eyal Fruchter, MD Israeli Defense Force Medical Corp, Ramat Gan, Israel.
The study was funded in part by The Swedish Council for Working Life and Social Research, the Swedish Research Council and the Beatrice and Samuel A. Seaver Foundation.

A New Test for Diagnosing Autism

brian connectivity

EEG signals may reflect underlying brain connectivity patterns in autism. This brain has less dense local clusters linked by long-range connections, which may represent a normal pattern. Image::Boston Childrens Hospital

In a large new study, researchers at Boston Children’s Hospital used EEG to identify specific patterns of brain activity that can distinguish children with autism.

At present autism, is currently diagnosed purely on the basis of behavior and assessing  clinical  history.

Widely available EEG testing can distinguish children with autism from neurotypical children as early as age 2, finds a study from Boston Children’s Hospital. The study is the largest, most rigorous study to date to investigate EEGs as a potential diagnostic tool for autism, and offers hope for an earlier, more definitive test.

Researchers Frank H. Duffy, MD, of the Department of Neurology, and Heidelise Als, PhD, of the Department of Psychiatry at Boston Children’s Hospital, compared raw EEG data from 430 children with autism and 554 control subjects, ages 2 to 12, and found that those with autism had consistent EEG patterns indicating altered connectivity between brain regions – generally, reduced connectivity as compared with controls.

While altered connectivity occurred throughout the brain in the children with autism, the left-hemisphere language areas stood out, showing reduced connectivity as compared with neurotypical children, consistent with neuroimaging research. Findings were published June 26 in the online open-access journal BMC Medicine.
Duffy and Als focused on children with “classic” autism who had been referred for EEGs by neurologists, psychiatrists or developmental pediatricians to rule out seizure disorders. Those with diagnosed seizure disorders were excluded, as were children with Asperger’s syndrome and “high functioning” autism, who tend to dominate (and skew) the existing literature because they are relatively easy to study. The researchers also excluded children with genetic syndromes linked to autism (such as Fragile X or Rett syndrome), children being treated for other major illnesses, those with sensory disorders like blindness and deafness and those taking medications. [continue reading…]

by Norma Desmond

Image: Norma Desmond

A specific antioxidant supplement may be an effective therapy for some features of autism, according to a pilot trial from the Stanford University School of Medicine and Lucile Packard Children’s Hospital that involved 31 children with the disorder.

 
The antioxidant, called N-Acetylcysteine, or NAC, lowered irritability in children with autism as well as reducing the children’s repetitive behaviors. The researchers emphasized that the findings must be confirmed in a larger trial before NAC can be recommended for children with autism.

Irritability affects 60 to 70 percent of children with autism. “We’re not talking about mild things: This is throwing, kicking, hitting, the child needing to be restrained,” said Antonio Hardan, MD, the primary author of the new study. “It can affect learning, vocational activities and the child’s ability to participate in autism therapies.”

The study appears in the June 1 issue of Biological Psychiatry. Hardan is an associate professor of psychiatry and behavioral sciences at Stanford and director of the Autism and Developmental Disabilities Clinic at Packard Children’s. Stanford is filing a patent for the use of NAC in autism, and one of the study authors has a financial stake in a company that makes and sells the NAC used in the trial. [continue reading…]

Low-cost test may screen for autism

When children with autism were randomly compared with typically developing children or children with other developmental disorders, biomarkers correctly identified more than thirty percent of autistic children without incorrectly identifying a single non-autistic child. Image: istockphoto

Autism is difficult to diagnose because of a lack of specific biological markers and a variability of symptoms, ranging from mild in some individuals to severely disabling in others.

Now a team of University of Washington  and Battelle scientists have identified metabolites in urine that could potentially predict young children at risk of developing autism.

The varying degrees and manifestations of this developmental brain condition are collectively called autistic spectrum disorder.  ASD is characterized by impaired social interactions, difficulty in communicating, and repetitive behaviors. Many other symptoms also can be present, including anxiety, depression, learning disabilities, sleep disorders, and gastrointestinal problems.

Currently, diagnosing a child with ASD requires a thorough evaluation by a team of health professionals from a wide range of specialties. Early intervention often can reduce or prevent the more severe symptoms and disabilities associated with ASD.

Autism specialists and many other people look forward to a day when a test for a  biological marker might detect autism risk in young children. To this end, Seattle researchers evaluated porphyrins in the urine of children to determine if the levels of these metabolites could predict ASD. [continue reading…]