On the Spectrum: What Autism Really Is

Autism. It's a diagnosis that many families fear and is grossly misunderstood. Last month, I did a rotation in developmental pediatrics, where children with concerns of development are referred and autism is often diagnosed. I've seen a host of patients where there were concerns that turned out to be unfounded. So, in light of that, I decided a crash course in autism was warranted.

So, what is Autism? Simply put, it's a developmental disorder that affects social interactions. They don't engage socially, so they have decreased eye contact, and don't have shared social experiences. For instance, a normal child will point to show things of interest and will try to get a caregiver's attention when something interests them. Those with autism are not interested in sharing the experience, so may simply watch whatever is interesting them. Communication also plays into this, as these children don't communicate their needs and often seem more independent than normal children because they simply figure out a way to get what they want, instead of communicating that desire to another. Thus, a child who wants a glass of milk may figure out how to set up the stepstool to get a glass out of the cabinet, rather than simply ask for a glass of milk.

Children with Autism have few, detailed interests. For instance, they may enjoy trains (which is not abnormal), but know exactly how the train runs or be more interested in train schedules, much more than another child his age. Or they may be more interested in part of the toy--such as the wheels on the train, and not use the toy itself appropriately. Going along with this, they love routine, and get upset when their routine is disrupted.

Autism is defined by the Diagnostic and Statistical Manual of Mental Disorders, or DSM. In it's fourth edition (DSM-IV), there were several categories of autism: Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS), Autistic Disorder, Asperger's Disorder, and Childhood Disintegrative Disorder. Each had slightly different criteria for diagnosis. For instance, children with Asperger's disorder had to have limited social behaviors, repetitive behaviors, and no delay in language and a normal IQ. These were the 'high functioning' autistics.

The fifth edition (DSM-V) came out in 2013, and redefined these categories so that all of them fell under 'Autism Spectrum Disorders'. They made this determination because it had proven difficult to categorize all individuals with these disorders into discreet categories. That is, the same patient, seen by two different providers, may provide two different diagnoses, even though the child has the same symptoms. Thus, the DSM-V eliminated the confusion by making it a spectrum. Those who previously had Asperger's Disorder now are reclassified as having an Autism Spectrum Disorder (ASD), and being on the higher functioning end. There is thus less focus on the exact diagnosis, and more focus on the exact symptoms of the particular child. This also allows children who would not have had access to services before to fit the criteria and be labeled with an ASD so that they may have access to these school services.

In general, there are three patterns of autistic development. Previously, there had been considered to have two, but more recent data on these individuals indicates the presence of a third pattern. The first pattern is normal development to a point, and then loss of previously acquired skills. This is referred to 'regression'. The second is normal development and then failure to gain new skills. This is referred to as 'plateau'. Finally, there is early delays that never catch up with peers. This is referred to as 'no regression, no plateau' (I know, creative name, isn't it?).

So, we have the criteria. But how are children monitored for concerns? Well, each pediatrician does it slightly differently, but the American Academy of Pediatrics (AAP) recommends surveillance at every well-child check. If you are a parent, you may recognize this as either written or verbal questions along the lines of 'is your child pulling to stand?' or 'does your child use a fork appropriately?' As Pediatricians, we have a list of developmental milestones that children are supposed to reach at certain ages. In fact, we get tested on them in every test related to pediatrics starting in medical school, in order to identify children who are behind. You can look at the milestones for yourself, by age, here.

In addition to surveillance, there are certain visits where a child should also undergo formal screening. This is typically done in the form of a questionnaire, such as the M-CHAT. These help us determine whether the child should be referred to a developmental pediatrician for further evaluation. Many children who screen as abnormal do not have autism, but may have some other behavioral or developmental abnormality, especially if they are school-age and having difficulty in school.

However, the limitations in these methods are that it is primarily by parent report. One study looked at social behaviors in children diagnosed with autism by analyzing both parental reports and looking at home movies of the children. This study supported the assertion of three distinct patterns of development (as mentioned above), but showed that parents were bad at judging how their children developed.

Less than half of participants (9 of 20) whose home video displayed clear evidence of a major decline in social-communication behavior were reported to have had a regression by parents. Similarly, only 8 of 20 participants with evidence of early delays in social-communication behavior and little evidence of skill decline on video were reported as having an early-onset pattern by parents. Of the 10 parents who described a plateau in development, only three had home video trajectories consistent with such a pattern.

These difficulties are partly why the incidence of autism has climbed so dramatically in recent years. Thirty years ago, the only people being diagnosed with autism were the classic non-verbal and aggressive patients that were sent to institutions. Now, people with much milder forms of social impairment are being classified as having an autism spectrum disorder, because Early Intervention services have been shown to help those with these problems succeed more later in life.

All this is just the tip of the iceberg with regard to Autism, but I hope it was a good primer and gives you some insight into the disorder.

Vaccines: Building Our Immunity One Shot at a Time

I hope I'm not just preaching to the choir with this post, but I feel like I can't have a blog written from the Pediatrician's perspective and NOT talk about vaccines. It's too big a part of our practice.

Vaccines truly form one of the cornerstones of a pediatric practice. They are among the few interventions that are cost-saving. One of the others is providing clean drinking water. In the US, we have a schedule of vaccines for all children, and will provide them to everyone because they are cost-saving. These include Hepatitis A and B, Diptheria, Tetanus, Pertussis, Measles, Mumps, Rubella, Polio, and Chicken Pox. It is because of these vaccinations that polio no longer exists in the Western Hemisphere (the reason it has not been eradicated in the Eastern Hemisphere is because there is resistance to vaccination efforts), and partly the reason smallpox only exists in labs.

And yet, despite all the data showing that vaccines work, there is a huge anti-vaccine movement in industrialized nations. Organizations such as the Vaccine Liberation and the Think Twice Global Vaccine Institute advocate to parents not to get their children vaccinated.

Don't get me wrong. I'm all about informed consent and vaccine safety. I think all vaccines should be rigorously tested before they are given to millions of children. I think vaccine reactions should continue to be monitored, and that vaccines aren't necessarily a one-size fits all thing. There are some children who can't get vaccines, either because they are allergic to something in the vaccine itself, or because they do not have a strong enough immune system to make the vaccine effective (or worse, they could contract the disease if a live vaccine is used). But, considering that, all children who are able to get vaccines should, in order to protect those who can't. When the healthy population doesn't get vaccinated, they serve as possible source of infection to those children.

Let's look a little more in depth into their arguments.

First, the supposed link with autism. While this could be a blog post in and of itself, let's run through a quick history of this argument. Back in 1998, Andrew Wakefield, a surgeon from the UK, published a paper in Lancet, a well renowned medical journal, claiming that MMR vaccines had a link to autism. Around this same time, the FDA published guidelines requesting the removal of mercury based products from foods. Thiomersal, a mercury-based solvent and preservative, was being used at that time in several vaccines, and the CDC and AAP requested vaccine manufacturers to remove it. Note that these two episodes were linked in time, but not by anything else. In the ensuing decade, thousands of studies have been done. None have been able to replicate Wakefield's results, and none have shown harm to thiomersal, though it is no longer used in vaccines. In 2004, the Lancet partially retracted Wakefield's paper, after Brian Deer (a reporter in London) demonstrated that there were conflicts of interest that were not disclosed. Then in 2009, Deer determined that Wakefield had actually falsified much of his data. In 2010, the Lancet fully retracted the paper, and Wakefield was banned from practicing medicine by the General Medical Council in the UK.

Moral of the story: vaccines do not cause autism. There has not been a single study that shows that it does. The vaccine schedule is set up in a way that children are going to have developmental changes shortly after administration of the vaccines. That's what happens when kids get older.

Vaccine Liberation makes the claim that cleanliness can prevent all diseases, and 'proves' this with graphs showing that the death rate of several vaccine-preventable diseases and several where there is no vaccine available. The primary problem with these graphs is that they only look at death rates. Death isn't what we're concerned about in most cases. Polio, for instance, causes paralysis. We can prevent death through a variety of interventions, including the ventilator. It's the paralysis that we want to prevent. Mumps? It rarely causes a complication resulting in death; we give the vaccine to prevent inflammation of the testicles or ovaries, which can result in infertility. It also just doesn't sound like a fun illness to have. Complications from measles are more common, but it's especially bad to be pregnant and exposed to measles (same with chicken pox; most complications are in pregnant women). The graphs don't take into account any of these complications; they just look at the death rate.

Think Twice claims "Recently vaccinated children do carry the disease germ and are able to spread it to other children. Many so-called epidemics are initiated and spread in this manner, even though the unvaccinated are blamed." It is true that some vaccines are live vaccines, meaning that the virus was altered to cause an immune response, but not disease, and the virus itself is still functional. These vaccines tend to be more effective than other vaccines, because they act more like a disease-causing virus than the segments that are used in the inactivated or subunit vaccines. These include the varicella (chicken pox), oral polio, and MMR vaccines.

However, the idea that children can spread disease after getting these vaccines, especially that this accounts for most of the cases of these diseases, is incorrect. Most measles cases are imported, meaning that they were brought back from people traveling overseas, usually to Asia. These were most commonly unvaccinated people who contracted the illness, though some vaccinated people remain susceptible. Of course, the recent outbreaks of measles may change that assumption in the near future.

This post is already getting long, so I'll end it here, but if you know of any other arguments against vaccines, please feel free to bring them to my attention and I will do my due diligence in examining the data. But in the meantime, please vaccinate your children. For the good of society, and for their own health.

Need more evidence that parents not vaccinating their children is causing harm? Check out this map. It shows the vaccine-preventable diseases Measles, Mumps, Rubella, Polio, and Whooping Cough (Pertussis) on a world map where all the epidemics are occurring, along with how many cases are in each epidemic.