Progress in the diagnosis and treatment of autism spectrum disorders is being made on a number of fronts, including genetics, neurobiology, clinical features, the need for early identification and early intervention, and educational and behavioral approaches.
Explore This IssueDecember 2008
Features of the Autism Spectrum
Neurobiology researchers have determined that as many of 30% of electroencephalograms of children with autism spectrum disorders have abnormalities, and that seizures occur with increased frequency, according to Leslie Rubin, MD, President and Founder of the Institute for the Study of Disadvantage and Disability, a Visiting Scholar in the Department of Pediatrics at Morehouse University School of Medicine in Atlanta, and Director of the Autism Program at Children’s Healthcare of Atlanta’s Hughes Spalding Children’s Hospital. Research has found neuropathology in the amygdala, hippocampus, septum, mammilary bodies, and the cerebellum-mainly in the limbic system, which has to do with contact with the outside world, he said. Also, children with autism tend to have a larger head circumference, which is not necessarily present at birth, but which appears to manifest in the first couple of years of life, he added.
Genetic studies show a 75% increased risk of a sibling having an autism spectrum disorder if another child had the condition. There is a 10% to 40% increased risk of an autism spectrum disorder if there are other siblings with related disorders in the family. In studies of twins, there is a 75% to 90% concordance in monozygotic twins but only a 5% to 10% concordance in same-sex dizygotic twins.
Dr. Rubin said that in treating children on the autism spectrum, clinicians must realize they are basically in the dark in trying to evaluate the child’s intelligence levels. We do not know how clever the children are if they cannot speak to us, he said. You should not assume that if they cannot speak, they cannot do intelligent things or cannot take information in. Although intellectual abilities may vary, we have to assume that the children are intellectually capable even if they cannot demonstrate this, and we have to do everything we can as soon as we can to make sure each child reaches his or her optimal developmental function.
-Leslie Rubin, MD
Another cardinal feature of autism spectrum disorders is limited social interaction. The children tend to be by themselves and play by themselves. If there are other children around, they often drift to the periphery of the group. They also tend to have limited eye contact. It’s not that they have no eye contact with others, he said, it is that the eye contact does not have the same qualitative interactive engagement that one usually expects. Often, they are anxious about meeting new people and encountering new situations, and are reluctant to relate on terms other than their own, but you can encourage them be engaged with others.
Children with autism spectrum disorders also may engage in unusual stereotypic behavior patterns such as repetitive hand movements, rocking body movements, or walking on toes, and their play has predictable patterns, such as lining up toys or organizing them obsessively into categories or patterns.
More often than not, children on the autism spectrum have significant difficulty with change and transition. Often, minor changes can result in great distress, and children may exhibit this distress with acting out behaviors, or even tantrums. It is critically important to be aware of the factors that precipitate dramatic emotional reactions so that they can be anticipated, prevented, and mitigated.
Dr. Rubin commented that he prefers to use the term unusual when describing the behaviors and behavior patterns, because it is more positive and encouraging for the children and the family. It is important to establish and maintain a positive attitude among everyone involved, because with timely and appropriate intervention and management, the children have good potential for optimal development and, ultimately, fulfillment in life.
Role of the Otolaryngologist
Dr. Rubin suggested that one thing an otolaryngologist can do to move the child who may have a speech delay or early signs of autism in the right direction is to refer the child to a speech pathologist. There is nothing better than to get off to a good and early start in life, he said.
He advocates a triad of therapeutic approaches: speech therapy to improve language and communication, occupational therapy to improve coordination and sensory integration, and some form of behavior-based therapy, such as Floortime for younger infants and applied behavior analysis for older children and those with more challenging behaviors. Obviously, also, education and socialization are part of the formula for success. He maintains, however, that the most important positive factors in the child’s life are his or her parents and siblings or other family members. Because of their unconditional love and commitment, the children are provided opportunities for progress in growth and development.
Although studies of diagnosis and treatment of autism are limited, Lindee Morgan, PhD, Director of the Center for Autism and Related Disabilities at Florida State University (FSU) in Tallahassee, said her work as research coordinator for the First Words Project at FSU, a program funded by the National Institutes of Health and the Centers for Disease Control and Prevention, appears to show that early intervention can be successful.
The First Words Project is an ongoing nine-year-old program that involves administering autism screening to children under age 24 months in Florida’s Panhandle.
You may be aware of the recommendations of the American Academy of Pediatrics that developmental surveillance should occur at every well-child visit from nine months to 30 months and that all children should be screened specifically for autism spectrum disorder at 18 months and at 24 months, Dr. Morgan said. The First Words Project takes over the screening of these children for participating pediatricians. Most studies of babies or toddlers in autism are baby sibs’ studies. We are doing a prospective longitudinal study with a general population sample.
We work with pediatricians’ offices. Parents fill out a 24-item checklist that we have developed. They fill it out right in the office. We get those checklists. We score them. If the child fails, we call the family directly and schedule an autism-specific screen. We also bring them in for a face-to-face evaluation. We always videotape this session.
We have screened hundreds and hundreds of children thus far. We get them in as early as nine months or 12 months of age, and we follow them every three months. We have this fabulous dataset to look at children prospectively. Following the face-to-face evaluations, if we start to see some red flags for autism, we will invite them in for follow-up diagnostic observation. We are doing diagnoses as early as 18 months and we are repeating that diagnostic battery at 30 months, she said.
Dr. Morgan said that in most practices, parental concern about the child’s not talking or isn’t listening may result in the clinician considering autism as a problem. But data collected by the project indicates that parental concern isn’t a good bellwether for problems with young children.
I think we need to be looking out for kids whose parents aren’t necessarily concerned, Dr. Morgan said in her panel lecture. In the checklist that we use, which we have now administered to more than 6000 children in trying to identify all communication disorders, we are sensitive to true positives [82% to 98%, depending on the age groups] and we have a good rate of true negatives [78% to 89%].
On the other hand, when looking at parent concern, the true positive rate ranges from 24% to 60%-generally increasing with the age of the child-whereas the true negative correlation ranged form 84% to 39%, as the age of the child increased.
You cannot go on parent concern alone, she said. You cannot fear having these conversations with families or to refer children if you do see red flags.
The project appears to have determined that that there is a deceleration-not a regression-in growth of social communication skills over the second year in children with autism spectrum disorders. We are seeing these repetitive behaviors and sticky attention to objects, she said. Children who are engrossed in objects are not getting the face time, the social learning that typical children, or even children with developmental delay, are. We are also seeing that social deficits increase over the second year.
The holy grail, though, is whether intervention can pull the children out of this focus on objects and repetitive behavior and pull them away from this lack of social interaction and create a healthier pathway to improve social communication skills, she said.
We do no know very much at all about treatment programs for autism spectrum disorder, she acknowledged. We don’t have data to tell if any one of the promoted approaches is more effective than others. We also don’t know which approach is going to be ideal for which child.
It really is a challenge for families who are vulnerable and are feeling a time crunch and want to give something for their child and they want guidance. They are also in the situation of being marketed to and going on the Internet and seeing claims.
However, Dr. Morgan said there are certain attributes of programs that appear to be ingredients for success:
- Use of planned teaching opportunities, organized around relatively short periods of time.
- Sufficient amounts of adult attention, one-to-one or in small play groups.
- Educational priorities, with goals and supports targeting function and communication, behavior, social, and academic challenges.
Intensity is huge. Early is better. It has to involve the family. Goals need to be individualized, she said. She said that if the program urges family members to stay in the waiting room, she would say that would raise a red flag in her mind over the value of that program. Family involvement is essential, she said.
Red Flags and Referrals: How Otolaryngologists Can Assist Patients with Autism Spectrum Disorders
Although pediatricians are often the ones who diagnose and care for children with autism spectrum disorders (ASDs), otolaryngologists can find themselves presented with the dual challenge and opportunity of encountering undiagnosed patients. For otolaryngologists, red flags and referrals are two useful phrases to help them appropriately treat children with ASDs.
The American Academy of Pediatrics (AAP) calls for developmental surveillance at every well-child visit at the nine-, 18-, 24-, and 30-month marks, as well as specific ASD screening at 18 and 24 months. However, many young children are brought to otolaryngologists because of speech or hearing problems, and otolaryngologists should know the warning signs of ASDs to facilitate timely diagnosis.
Red flags for ASDs include:
- Communication deficits, such as lack of speech, repetition of another’s speech, or speaking without apparent stimulus or intent.
- Social deficits, such as seldom making eye contact, often content being alone, or rarely seeking connectedness with others.
- Stereotypic behaviors, such as repetitive hand movements or rocking body movements, or even predictable patterns of play.
Even physical and genetic components factor into autism. For example, a larger head circumference has been shown to be a common physical trait among children with ASDs, and research has shown that ASDs are complex, heritable disorders, with increased risk if there is a sibling with an ASD.
However, because autism symptoms are diverse and a diagnosis requires a targeted evaluation, otolaryngologists should conduct a standard ENT evaluation and report any autism symptoms to a child’s pediatrician, with recommendations for further examination by specialists if necessary.
Referrals may perhaps result in a consultation with medical experts, including:
- Developmental pediatricians,
- Child neurologists, and
- Child psychiatrists.
Related professionals with ASD experience may also be of assistance, such as child psychologists, speech pathologists, and social workers, especially in communities lacking ASD medical specialists.
For further information, including the most recent AAP clinical report on ASDs, please visit www.aap.org/healthtopics/autism.cfm .
©2008 The Triological Society