Published: May 3, 2007
Updated: Dec. 16, 2009
Autism is now constantly in the news. Autism research discoveries make headlines, while pictures of people with autism appear on magazine covers. Almost everyone knows someone with the condition.
Dr. Gordon Worley, a neurodevelopmental pediatrician with Duke's Department of Pediatrics and co-director of the Duke Autism Program, tells us what autism is and what can be done to help.
-- Dennis Clements MD, PhD, MPH
Autism, a developmental disability, involves abnormal social relationships, communication skills, and unusual behaviors that occur by age three.
These characteristics can look very different in different individuals. Here are only a few examples of how autism may appear.
Autism exists as a spectrum from mild to very severe. People with autism often develop skills unevenly, showing delays in some areas and average or above average skills in other areas.
Usually these skills are also seen in the general population. However, sometimes people with autism develop exceptional, or savant, skills in a few areas, such as solving extremely complex math problems in their heads or having incredible memory skills.
The diagnosis of autism can be made by age three, but often can be made earlier. Parents should be concerned if their 18- to 36-month-old child shows the following traits:
The answer to this question is unknown. Twenty-five years ago reports stated that three out of 10,000 children had autism. This year the CDC reported that as many as one in 150 children may have autism in some communities.
Is this increase real? Or is the population prevalence the same but more children are diagnosed today? There is evidence to support both points of view. For instance, the psychological tests used to diagnose autism 25 years ago would only diagnose some of those diagnosed today, not all.
Many neurological conditions can cause autism including congenital infection (German Measles), neonatal brain injury, genetic abnormalities (Fragile X syndrome, Rett syndrome, tuberous sclerosis, Down syndrome, CHARGE syndrome, and others), and metabolic conditions (PKU, organic acidurias, and others).
It is known that genetics plays a role. Parents of one child with autism have a 5 to 8 percent chance of having another child with the condition. Boys outnumber girls three to one. Ninety percent of identical twins share autism.
Specific genes have been identified in some families that are associated with autism, but this is rare. Studies show that autism is a very complex disorder that probably results from a combination of genes and environmental factors. Numerous research studies are currently underway to determine which genes and environmental factors are involved.
Some children with autism have "developmental regression" that begins generally between 15 and 30 months of age. These children "go backwards," losing skills they once had. They need to be evaluated carefully for metabolic diseases and for a kind of epilepsy called LKS. Treatments of these conditions can be helpful.
A genetic workup is indicated for many patients. Overall a cause of autism is found in less than 10 percent of cases.
It is important for parents not to blame themselves for having a child with autism. Doing so is bad for them and bad for the children. There is nothing known at this time that they could have done to prevent autism.
The diagnosis of autism should be made as early as possible, so therapies can begin. The diagnosis can be made by experienced clinicians on the basis of history and observation.
Standardized tests, especially the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview (ADI), can show where a child falls on the autistic spectrum and are useful for getting services in the school system and community.
In North Carolina, the TEACCH Program has served people with autism since the 1970s. Started by Professor Eric Schopler of the University of North Carolina, TEACCH was one of the first programs to take a positive attitude toward making a difference in the lives of people with autism.
People with autism are eligible for services throughout life and should be registered for a TEACCH evaluation as soon as the diagnosis is suspected. Although there is often a long wait to be seen, the wait is worth it. TEACCH Regional Center contact information can be found online.
Early treatment is best. The cornerstone of treatment for children with autism is language/communication therapy.
Other therapies such as occupational therapy, behavior management, and social skills training are also often helpful. Classrooms for children with autism in schools are appropriate for some but not all children. The treatment of autism is beyond the scope of this brief essay.
The Autism Program at Duke began 15 years ago under the leadership of Dr. G. Robert DeLong, Professor of Neurology Emeritus, a distinguished investigator into autism and autism related disorders.
The program now consists of two physicians, Dr. Richard D’Alli, a child psychiatrist, and myself, as well as two speech therapists and a clinic coordinator. Dr. DeLong has remained involved as the research director. The principal roles of the program are diagnosis and pharmacological management.
The diagnosis is made clinically by the physicians. For those families willing to participate in the Neurogenetics Unit Study (see below), the tests mentioned above (ADOS and ADI) can be done free of charge within eight weeks.
A substantial minority of patients with autism have an associated behavioral or developmental problem for which pharmacological management can be helpful. These problems include selective mutism, obsessive behaviors, attention deficit/hyperactivity disorder, aggressive behavior, and mood instability.
Our philosophy is that zero is the right number of medications for a child with autism. For us to continue a medication, both parents and observers who are unaware that the child is on medication must see an undeniable improvement in the child’s behaviors. Parent education and help in finding community services are also provided. We make an effort to stick with families over the long haul and to help them solve problems as they arise.
Duke contributes at all levels from thinking of new ideas to the publication of results. Advances cannot be made without the help of patients and their parents. Parents will be offered the opportunity to participate in this study when they visit us.
For referrals to Dr. D’Alli, please call 919-668-5559. For referrals to Dr. Worley, please call 919-684-3173.
-- Gordon Worley, MD, is a neurodevelopmental pediatrician with Duke’s Department of Pediatrics and co-director of the Duke Autism Program.
-- Dennis Clements, MD, PhD, MPH, is the chief of primary care pediatrics at Duke Children's Hospital.