Dr. Geri Dawson at the ASNC annual conference
Dr. Geri Dawson, Director of the Duke Center for Autism and Brain Development, opened the second day of our annual conference with a fact-filled presentation titled: “Autism Spectrum Disorders: What do we know? Where are we heading?”
We would like to thank her for sharing her time and knowledge with us. For those who were not able to attend her presentation, we are sharing some of the highlights here, including exciting news about effective behavioral interventions and current clinical trials for medical treatments.
Dr. Dawson started by talking about the prevalence rate of Autism Spectrum Disorder, which the CDC has reported as 1 in 68 among 8-year-old schoolchildren nationally, and 1 in 58 in North Carolina. The rising prevalence rate is also reflected in the number of clinical visits and unique patients they see at Duke, she said.
Who are these individuals with ASD?
Changes in the most recent Diagnostic and Statistical Manual of Mental Disorders, DSM-5, mean that Autism Spectrum Disorder (ASD) is not differentiated into subtypes such as Asperger’s Syndrome. ASD is diagnosed when an individual has problems with social communication and repetitive behaviors. Language delay is now categorized as a comorbidity, meaning it often is found in those with ASD, but not always, Dr. Dawson said.
Asperger’s and PPD-NOS have similar symptoms, causes, and treatments, so they are not separated out. But that does not mean that individuals cannot continue to claim these descriptors, just that doctors will not diagnose that way, Dr. Dawson said. The neurodiversity movement is “powerful and positive,” she said, adding that the Duke center supports it.
Other conditions that tend to co-occur in individuals with ASD include gastrointestinal problems, sleep difficulties, seizures, tantrums, self-injury, and aggression. Doctors are learning that by treating physical issues, such as GI problems, they can have a tremendous impact on behavioral issues, Dr. Dawson said. The challenge, though, is that individuals with ASD are not “good reporters” on health conditions.
Recent research highlights the talents and strengths of people with ASD, Dr. Dawson said, including one study that found that more than 60 percent had at least one exceptional skill in areas such as memory, visuospatial, reading, drawing, music, and computation. She said that we should be focusing on these skills to help with the employment problem among individuals with ASD. Less than one-fifth of high-functioning adults with ASD are able to find employment after high school, she reported. This high rate of unemployment cannot be blamed on their ASD, she said; often anxiety and depression are the causes.
In addition to unemployment, another sobering statistic she mentioned is the mortality rate among individuals with autism, which she said was six times higher than the general population’s. Risk factors include a tendency toward wandering, unsafe behaviors, side effects of medicines they might be using, seizures, and heart disease, which might be attributed to medicines and a lack of exercise.
What do we know about the causes and risk factors for ASD?
Autism Spectrum Disorder comes in many forms with many causes, many of which are still unknown. Breaking down the subtypes will help us to find treatments, Dr. Dawson said.
Fifteen to 20 percent of cases can be traced to genetic causes including Fragile X Syndrome, neurofibromatosis, tuberous sclerosis, and certain risk genes. Once risk genes are identified, scientists can create “mouse models” of the mutation and identify the biochemical pathway that is affected. This can lead to testing of medications for individuals with ASD. For more information about autism and genetics, Dr. Dawson recommended the website http://sfari.org/.
But ASD cannot be blamed on genetic risk factors alone – a complex interaction among genetic and environmental factors contributes to the risk. Some factors are protective, meaning they make it less likely that an individual will have ASD; two such factors are being female or folic acid being taken before or during the pregnancy.
Other factors increase the risk of ASD developing: advanced parental age, premature birth, or inflammation during a pregnancy, which can affect fetal brain development. Such inflammation could be caused by maternal infection, maternal antibodies, pesticides, or traffic pollution.
ASD disrupts long-range connections between brain regions, Dr. Dawson said. This causes problems with social interaction, which is a complex behavior that requires you to do several things at once. But at the same time, it might also explain the high level of skill in one specific area.
Promising directions in behavioral treatments for ASD
Multiple studies of infants at risk for autism have made it possible to detect ASD and begin early intervention for such children even before they are a year old. Scientists studied siblings of children diagnosed with ASD from the time of their birth, recording their characteristics in great detail. Eventually, one-fifth of those infants were also diagnosed with autism. The researchers were then able to backtrack and find symptoms of autism emerging when the children were 6 months to 1 year old. These included more interest in toys than people, less babbling than their typical peers, failure to orient to their names, reduced social smiling, and fewer consonant vowel syllables. By 12 months, the children exhibited impaired joint attention, delayed gesture, delayed language, and poor social imitation.
The exciting part of early detection is that it enables early intervention, Dr. Dawson said. With naturalistic developmental behavioral interventions, the intervention is incorporated into the child’s everyday life with their loved ones. Researchers have found that children learn about their world through active exploration and that emotional engagement keeps their attention and encourages retention. Language development is built upon joint attention, so this is also a crucial skill.
Some of the naturalistic developmental behavioral interventions that Dr. Dawson listed included Pivotal Response Treatment, created by Drs. Lynn and Bob Koegel, also conference speakers; JASPER; SCERTS; and Early Start Denver Model, which she co-created. A book she co-authored, An Early Start for Your Child with Autism, includes everyday activities and strategies parents can use for capturing attention, social engagement, nonverbal communication, imitation, joint attention and play, and language.
“Learning occurs every moment,” Dr. Dawson said. “These strategies can be used throughout the day.”
In one study conducted by Sally Rogers at UC Davis in which therapy was delivered by parents, the children had few symptoms of ASD by age 3.
Early behavioral intervention is successful because it is actually changing the course of brain development, Dr. Dawson said. Studies show that it improves IQ, language, and social behavior. Many individuals do still struggle with language and learning, so medical treatments are needed in combination to reduce the disability associated with autism.
The future: medical treatments
Currently, only two medications are FDA-approved for autism, and they address associated conditions. They are Risperdal for those ages 5-16, and Abilify, for those ages 6-17. There is hope that in the next few years, some of the clinical trials going on now will translate genetic findings into drug targets, Dr. Dawson said.
A current study at Duke seeks to determine whether infusions of umbilical cord blood – either that of the children themselves, or someone else’s – can reduce core ASD symptoms. Researchers hypothesize that the treatments might reduce neuroinflammation and are assessing behavioral and brain outcomes over one year.
Another multi-site clinical trial that Dr. Dawson mentioned involves the hormone oxytocin, which regulates emotional and social behavior. Research funded by the NIH is assessing oxytocin’s effect on social communication in 3- to 17-year-olds. The UNC-CH ASPIRE research program is conducting one of the studies; for more information, click here.
For more information about Dr. Geri Dawson and the Duke Center for Autism and Brain Development, visit its website at www.autismcenter.duke.edu. Individuals and families can join the Duke Registry for Autism Research to receive information about events and activities, information about studies for which they might qualify, and free diagnostic evaluations and referral information.
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