The mission of the Interactive Autism Network (IAN) is to accelerate autism spectrum disorder research in order to improve the lives of people living with this disorder. IAN has fulfilled an important need by offering valuable services (assistance with participant recruitment and data distribution) to the research community.
Prenatal and early-life infections and associated febrile and immune responses may contribute to autism by regulating brain maturation and central nervous system function. W. Ian Lipkin, Mady Hornig and their colleagues at Columbia University aim to examine the role of infection and immunity in the pathogenesis of neurodevelopmental disorders. They plan to study a large pregnancy and birth cohort comprising more than 114,000 children and their parents.
Rhode Island is emerging as a national leader in innovative, integrated research and treatment for autism spectrum disorders. With regard to serving people with developmental disorders, the state has a deep tradition with strong relationships among academia, government, educators, service providers and families. Demographically, Rhode Island is a microcosm of the U.S.; it has a relatively stable population located within a small geographic region, which works well for longitudinal and population-based epidemiological studies.
Matthew Goodwin and his colleagues at Northeastern University in Boston and the Georgia Institute of Technology are working to develop a mobile system for recording behavior and physiology in individuals on the autism spectrum, for use in home settings.
Lauren Weiss and her colleagues used a ‘pathway’ approach — looking at a group of genes connected in a defined biological pathway — to investigate the role of the RAS/MAPK signaling pathway in autism traits. This pathway controls many cellular functions. The researchers compared a large sample representing individuals with RASopathies — genetic, developmental disorders caused by mutations activating the RAS/MAPK pathway — with unaffected siblings and individuals with autism.
Epilepsy and epileptiform encephalogram (EEG) abnormalities are common comorbidities in autism spectrum disorders. Sarah Spence at Boston Children’s Hospital proposes that these are important biomarkers of cortical dysfunction involved in the pathogenesis of autism spectrum disorders. Although treatment for epilepsy is always indicated, treating epileptiform EEG abnormalities without seizures is controversial. Data suggest, however, that epileptiform discharges — short bursts of brain activity that resemble EEG patterns during seizures — are associated with deficits in attention, language and behavior, indicating that these discharges may represent a novel treatment target in autism.
The goal of this project was to increase awareness of the need for brain tissue donation for autism research, and to thereby increase the number of people registered to donate and the number of actual donations. This project is the outreach program of Autism BrainNet.
Functional gastrointestinal (GI) symptoms have been frequently reported in children with autism spectrum disorders (ASD). The term ‘functional’ refers to the absence of structural abnormalities in the gut that can be identified by blood, radiographic or endoscopic tests. Functional GI symptoms are also common in the general population and account for a major portion of visits to gastroenterology and primary care practices. Abnormalities in the neural regulation of gut function and sensation have been implicated in the development of these complaints.
Although intellectual impairment is not one of the diagnostic criteria for autism spectrum disorders, half or more of all people with autism have an intellectual disability. Intellectual disability can present an equal or greater challenge to individuals with autism than do autism-specific deficits. To date, the intelligence quotient (IQ) is one of the best predictors of response to treatment among youth with autism, and it is also one of the best predictors of long-term outcomes.
Genetic factors are thought to play a major role in the occurrence of autism. Multiple genetic abnormalities have been identified in people with autism, and genetic mutations currently explain approximately 15 percent of autism cases. David Ledbetter and his colleagues at Emory University School of Medicine in Atlanta found in 2010 that the loss (deletion) of genetic material in chromosomal region 17q12 confers a high risk for autism and schizophrenia.