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.

A newly discovered genetic condition called TMLHE deficiency results in the loss of the ability to make carnitine in the body. Arthur Beaudet and his colleagues at Baylor College of Medicine in Houston, Texas, hypothesize that carnitine deficiency in the brain can cause autism, and that dietary supplementation with carnitine may prevent or reverse autism symptoms associated with TMLHE deficiency.

A hallmark of autism is impairment in reciprocal social interaction, including inadequate eye contact and failure to recognize emotions. Research shows that the neuropeptide oxytocin modulates social behavior. In mice, rats, monkeys and sheep, for instance, administration of oxytocin enhances social recognition, memory of peers, and development of partner preference and bonding. In people, including those with autism, oxytocin nasal spray can significantly enhance social cognition.

Several genes have been identified that contribute to the risk of developing autism spectrum disorders. Studies of infants at high risk (‘baby siblings’ of children with autism) have yielded exciting new findings about the earliest signs of the disorder, raising the hope that children could be diagnosed and therefore treated at an earlier age.

There is an immense need to find new treatments for children with autism. While some current therapies are effective, there is a lack of treatments that have a clear scientific basis. There is significant evidence to show that children with autism have decreased antioxidant defenses. This may lead to changes in the way cells function and contribute to the symptoms that children experience.

Inflammatory mechanisms have been implicated in autism. Treatments that modulate the immune system and inflammatory response, such as Trichuris suis ova (TSO), a parasitic worm called whipworm helminth, may be an experimental therapeutic option. Individuals with autism may have an increased immune response due to excess type 1 T-helper cells, which increases chronic inflammation. Individuals with autism may also have less of anti-inflammatory cytokines released by type 2 T-helper cells, which decreases chronic inflammation. It has been noted that some individuals with autism have improvements in behavioral symptoms when they have a fever, which further suggests that factors that influence the immune system and inflammation may have a role in autism etiology and potential treatments.