Because autism and autism spectrum disorders can be treated successfully if appropriate treatment is initiated early, otolaryngologists find themselves on the front line as clinicians who may be able to spot the disorder and, by timely referral, prevent the severe outcomes that are possible in patients with autism.
A panel of experts who work with autism spectrum disorder patients emphasized the need for early diagnosis and early treatment-illustrating that interventions when children are toddlers can result in highly functioning children just a few years later.
Our job here is to do several things, said panel moderator Scott Schoem, MD, Director of Otolaryngology at the Connecticut Children’s Medical Center in Hartford, during the 23rd annual meeting of the American Society of Pediatric Otolaryn gology, held in conjunction with the Combined Otolaryngology Spring Meeting.
Dr. Schoem said that the first of those tasks is to help you recognize these red flags. Parents want to know what is wrong with their child, and how they can help their child diagnosed with autism spectrum disorders best fit into society-not necessarily be the life of the party, but at least be able to go from this to a state where they know how to make friends and can fit into society in a positive way.
In my daily practice, I am often the first professional to see the warning signs in the autistic spectrum disorders. How do I help the primary care physician, and how do I help the parent? he said.
Said Lindee Morgan, PhD, Director of the Center for Autism and Related Disabilities at Florida State University in Tallahassee, Otolaryngologists are in a unique position to help identify children who have not been identified. The majority of referrals for middle ear infection occur from three months to 36 months. That tells us you have a great opportunity here.
The panel said that the cardinal clinical features of autism spectrum disorders are:
- Delay in speech development.
- Limited social interaction.
- Unusual stereotypic behavior patterns such as repetitive hand movements, rocking body movements, walking on toes, patterns in activity, and play that has a predictable pattern.
- Associated conditions including hypertonia; neuromotor dyspraxia and co ordination disorders; sensory integration difficulties; learning disabilities; sleep disorders; behavior problems, such as attention deficit hyperactivity disorder, obsessive-compulsive disorder, and anxiety and mood disorders; seizure and tic conditions; and gastrointestinal disorders.
Role of the Otolaryngologist
I have seen through my personal experience that early diagnosis and treatment of autism can make a big difference in outcome, said Michelle Cullen, MD, Clinical Assistant Professor of Otolaryngology at Emory University in Atlanta.
Otolaryngologists play a key role in the care and diagnosis of children with speech delay and therefore should know the early signs of autism, Dr. Cullen said, describing a picture of three apparently happy and outgoing siblings. The boy in this picture was diagnosed with autism at age three, had early intensive treatment for three years and now he is doing very well. He is seven years old, is in second grade, needs very little help, rides a bicycle-and it is difficult to see the difference between him and other children his age, she said.
Dr. Cullen said that otolaryngologists can serve an important function in early diagnosis and treatment of autism because of the prominence of speech delay in the children with the disorder. Speech delay, suggestive of hearing problems, often results in these children being referred to and seen by otolaryngologists before other clinicians or parents have begun to think about autism.
When a young child has a noticible speech delay, we are among the first specialists to be consulted by pediatricians to rule out ear conditions and hearing loss. If we as otolaryngologists are aware of some of the early signs of autism, we can suggest to the pediatrician that the child be referred for further evaluation by a developmental pediatrician for diagnosis, Dr. Cullen said.
We are not asking the otolaryngologist to make a diagnosis of autism, she continued. Otolaryngologists should perform a routine ENT physical evaluation and also observe the child’s behavior during the routine examination-without taking additional time or asking questions. We ask our otolaryngology colleagues to watch for the ‘red flags’ of autism and report these findings to a pediatrician and, if appropriate, suggest a workup including referral for further evaluation to a developmental pediatrician or other specialist, she said.
When something just doesn’t seem right about a child, then otolaryngologists should act on their hunch, said 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.
All of us as clinicians need to be sensitized to be aware when something does not quite fit, he said. We may be missing something if we don’t pay attention to the subtle differences.
Identifying Autism
Dr. Rubin said that autism spectrum disorders are neurodevelopmental conditions that have origins early in life and are identified by delays or significant differences in a child’s development. They involve function across more than one domain-we are not talking about physical illness here. We are talking about the child’s development and about function. We are talking about speech, eye contact, socialization, physical coordination, sensory integration, and possibly behavioral challenges. In the context of the autism spectrum conditions, we are talking about a greater degree of complexity than just speech delay.
These delays require early identification and immediate referral for intervention, and their families require a lot support in order to navigate the service delivery system in order to assure optimal function for the child, the family, and the community, he said. This is not a situation where we can give an antibiotic and things get better. This is a situation that is going to be life-long. It affects the child. It affects the family. It affects the community. We need to be sensitive to it, identify it as early as possible, and make the appropriate referrals.
As clinicians, we do not know everything about everything, but we can identify conditions and make appropriate referrals for assessment and management; for example, if I hear a heart murmur in a child I am going to send that child to a cardiologist. By the same token, if a child has a speech delay or a more complex set of developmental features, then we need to refer the child to the appropriate specialist-a speech pathologist, a developmental pediatrician, or a child neurologist.
Dr. Rubin said that-according to data from the Centers for Disease Control and Prevention-about one child in 150 develops autism or a related disorder, such as pervasive developmental disorder or Asperger’s syndrome, by age eight. You may have even heard about an ‘autism epidemic.’ You pick up a newspaper, you look in a magazine, you turn on the television, and every single day there is something about autism or related disorders.
We ask our otolaryngology colleagues to watch for the ‘red flags’ of autism and report these findings to a pediatrician and, if appropriate, suggest a workup including referral for further evaluation to a developmental pediatrician or other specialist.-Michelle Cullen, MD
Dr. Rubin said that the so-called epidemic of autism has more to do with our expanded diagnosis of the autism spectrum disorders than to actual increases in the numbers of children with the condition.
The Autism Spectrum
The autism spectrum consists of three major conditions. There is a classic autism, which was first described in the 1940s, where the child does not communicate or make eye contact, is prone to repetitive ritualistic behaviors, and does not connect or engage with others, Dr. Rubin said.
The other conditions on the autism spectrum were described in the 1970s and 1980s. We noticed that there are some children appeared to have some features of autism but not the full picture, and the term ‘pervasive developmental disorder of childhood,’ or PDD, was coined and codified.
Asperger’s syndrome came to our awareness in the late 1980s and 1990s. These were children who were very articulate and had very keen and focused interests and topics. They could speak to you and tell you about esoteric information about whatever was the focus of their interest at the time. In the 1980s we also became aware of a condition called Rett’s syndrome. This is a much rarer condition with an identified genetic disorder on the X chromosome. While the other conditions on the autism spectrum are much more common in boys, Rett’s syndrome affects mainly girls.
Thus, although the prevalence of autism spectrum disorders has increased, Dr. Rubin suggested that the increase occurred because we have now included the diagnoses of pervasive developmental disorder and Asperger’s syndrome in the autism spectrum; thus we have increased our diagnostic range. In many medical fields, we often identify the most dramatic presentation of a disease, disorder, or condition first and then, over the course of time, we expand our criteria and then we may realize that we are not be dealing with just one entity, but with multiple entities with common features.
Link Between Autism and Immunization?
Dr. Rubin also considered the controversy surrounding immunization and a possible link to autism. The hallmark of autism is delay and unusual pattern of speech development. Dr. Rubin said in many cases a child may have normal speech development, may start to say some words at the usual time, and then at about 18 months, the child stops speaking. Coincidentally, in the 1980s when MMR [the measles-mumps-rubella vaccine] was introduced, it was given at 18 months. In my opinion, the putative link between immunizations and autism began at that time and has branched out to implicate thimerosal, the mercury-containing preservative. Interestingly, despite the removal of thimerosal from the vaccines, the prevalence continued to rise. Eighteen months seems to be a turning point, whether or not children have immunizations at that time, he said.
Dr. Rubin said he subscribes to a theory that states, Infants are born with billions and billions of brain cells and there are phases of apoptosis-periods of mass destruction of brain cells-a kind of pruning process, he said. Those periods of cell destruction rid the brain of cells that are no longer useful-perhaps due to adaptation of the child’s brain to the immediate environment and particular language acquisition.
One of the theories on the neuropathology of autism is that there is a major phase of apoptosis that is supposed to occur around 18 months, but does not occur in some children with autism, which creates a kind of neural traffic jam, he said. It takes another six to 18 months for the brain to find uncrowded neural side roads to create new pathways, he suggested. He said that when these children start speaking again, they very often repeat words and phrases. I believe that the children on the autism spectrum learn to speak as if they are developing new neural pathways and are, in fact, learning a complete new language, rather than the intuitive process of language acquisition that typically occurs in infancy, he said.
He admitted that this theory has not been validated, but I like it anyway.
In the meantime, progress is being made on several fronts, Dr. Rubin said. We are learning about genetics. We are learning about neurobiology. We are learning about clinical features. We are learning about the need for early identification and early intervention. We are learning about educational and behavioral approaches. We are learning about social awareness and acceptance.
Part 2 of this article will discuss features of autism spectrum disorders and what otolaryngologists can do to help children with these disorders.
©2008 The Triological Society