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.

Eating Right: Infant Nutrition

My training is filled with newborn medicine. The first year, I spend one-third of the year taking care of babies, plus I see a lot of babies in my clinic each week (we have at least 2 newborn visits each week). So, naturally, I have learned a lot about infant nutrition. This post, I'm going to primarily talk about formula and transition to table foods, but in another post, I'll talk about the reported benefits of breastfeeding. We'll do this Q&A style today.

What's with all these different formulas? 

There are dozens of different types of formula. For the most part, they are marketed for different groups. There are two main categories: cow's milk based formulas, and soy formulas.

Cow's milk formulas process cow's milk heavily into something resembling human breastmilk. The proteins are broken down and adjusted to look more like human breastmilk, additional lactose (milk sugar) is added, and the milk fat is removed and replaced with different types of fat. Note that all this adjustment actually makes the formula very different from cow's milk, so there is no contraindication when we say that you should not give your child milk until they are 12 months old.

A subset of cow's milk formulas are the hydrolyzed, or hypoallergenic, or sometimes called elemental, formulas. These are based on cow's milk, but are further broken down so that the proteins are short, and thus less likely to cause allergic reactions.

Soy milk formulas are designed primarily for vegetarian/vegan parents who do not want to give their child cow's milk based formulas.

There are also a handful of special formulas for children with very specific metabolic syndromes, which are determined by the newborn screen, and not applicable for most children. They tend to be more expensive, and out of the price range of many parents as well.

So, which formula is best?

There isn't a hard and fast rule for this. For most babies, a general cow's milk formula fortified with iron is sufficient. This also tends to be the one that most people start out with, and as such, makes up a huge portion of the market. So, it also tends to be easier to find and sometimes cheaper.

When should I switch formulas? 

You want to talk this over with your pediatrician. Some reasons your pediatrician may recommend a different formula may include a significant family history of allergies (especially food allergies), a milk protein intolerance, or a metabolic disorder that requires a certain type of formula.

A significant family history of allergies may predispose your baby to getting allergies to foods, so to minimize that risk, a hypoallergenic, or elemental, formula may be recommended. These may help up to 90% of babies in these situations delay the onset of allergies or avoid them all together.

A milk protein intolerance most commonly presents as blood in the baby's stool. It does not represent a true allergy, but rather a minor reaction to the protein in the cow's milk formulas. However, there can be significant cross sensitivity to the proteins in the soy formulas, so again, a hypoallergenic formula may be recommended.

Generally, babies do not have lactose intolerance. This is something that tends to develop in older children and adults due to a deficiency in the chemical in the gut that breaks down the milk sugar. Babies are designed to break down this sugar, as human breastmilk has it in large quantities. However, there are rare cases of lactose intolerance in babies, and in these children, a lactose-free formula may be used.

How long should I give my baby formula?

You should give your baby formula or breastmilk ONLY until they are at least 4 months old, unless otherwise suggested by your pediatrician. They should not be given juices, sodas, or table food. Formula or breastmilk will provide all the nutrition they need up to about 6-7 months of age. After that, they should continue to get formula until 1 year of age, when they can be switched to cow's milk (or soy milk, etc) as their milk requirement.

How should I introduce foods? 

When the child is able to sit up on their own and express interest in the rest of the family eating, you may start introducing 'solid' foods. These should be completely pureed. Most pediatricians will recommend starting with an iron fortified rice cereal or oatmeal or something of that nature, but it's acceptable to start with another iron-rich food, such as finely ground meat.

Following that, you can start introducing different vegetables and fruits. Babies tend to like fruits more than the vegetables, because they are sweeter, but it is important for them to have a balanced diet, so introduce different vegetables early and often. You should feed your baby only single ingredient foods at first--sweet potatoes, peas, carrots, apples, whatever, so long as there is only one thing in the puree. Then, wait three days before introducing a new food. This technique allows you to monitor any allergies or intolerances that may develop in the baby, so you know exactly which food caused it.

If your baby does not like a certain food when you first introduce it, don't give up. Mix it with a food they previously did like and tolerated, and then slowly increase the amount of the new food until there is no more of the former food.

As they get older, you can start introducing new textures, and by 1 year of age, they should be able to eat small finger foods on their own.

Is there any food I can't give my child?

Infants under one year of age should not be given honey. This is because in the processing of honey, there is a change for a bacteria called botulism to get into it, which can then multiple in the infant's intestines and cause a serious illness.

You should also not give your infant under age 1 cow's milk. Yes, I know I just talked about cow's milk formula extensively, but these formulas have been heavily altered and processed to meet the needs of babies. Cow's milk does not have the nutrients babies need and has a high amount of sodium, potassium, and other solutes that may stress the kidneys of an infant. After 12 months, their kidneys have matured enough to allow this. Note that unless your pediatrician says otherwise, you should start with whole milk, because toddlers need the extra fat for brain development.

How's that for a whirlwind tour of nutrition? Any additional questions, let me know at the contact button above or in the comments below.

Emergency Room Visits: When is the Right Time to come in?

It's been a crazy couple weeks. I'm on vacation now, so I'm hoping to get a few of these cranked out so that I don't miss any for a while. Apologies for not keeping up with my self-imposed schedule!

I'm on my Emergency rotation this month, and after having only worked a handful of shifts, I've learned a ton. I've also seen a wide variety of anxious and worried patients and parents. However, I've also seen families who are frustrated by a perceived lack of help.

I encourage all parents, if they think there is a problem, to first call their pediatrician. This is not idle advice... half the things I see in the Emergency Department can be seen in a pediatrician's office, not only faster, but generally cheaper for both the family and the insurance company. I also recognize that there is a trend among primary care physicians in general to refer their patients to the Emergency Department if anything is concerning to them, rather than working it up themselves. This isn't necessarily a bad thing--it can just be very frustrating for the parents.

Let's go through some cases to see who is best treated in the Emergency Department (henceforth referred to as ED), and what expectations for them are.

Patient 1: 3 week old infant comes in with a fever to 101. Otherwise looks healthy.

Should the patient come to the ED? Yes, Absolutely. Infants are not good at localizing infection because their immune system--what helps them fight off disease--is not developed yet. Virtually all their protection comes from mom--either from that protection crossing the placenta prior to delivery, or in the breastmilk afterward. So, these babies are at risk of getting serious infections, and sometimes the only outward sign of those serious infections is fever.

What should you expect in bringing this child in? Because we cannot easily identify the source of the infection, we check the major areas where infections can hide: the urine, the blood, and the spinal fluid. This means collecting urine, drawing blood, and doing a procedure called a lumbar puncture to get the fluid from around the spinal cord. The child will then have to be admitted to the hospital to await the results of those tests.

Patient 2: 3 1/2 year old girl with a few red spots on her back. Otherwise looks and feels healthy. No fever.

Should the patient come to the ED? This one can probably be treated best at the pediatrician's office. If the child has a fever and it's after hours, it's reasonable to bring her in, but without a fever, the spots are either bug bites, hives, or maybe a viral rash. In any case, there isn't a whole lot that the ED is going to do for you other than reassure you that these things are not serious, and that might be better conveyed by your local pediatrician.

What should you expect if you do bring the child into the ED? Long wait times. We have kids that are legitimately sick, so they get priority. I will not fault you for bringing your child in if you are worried, but again, you're probably going to be seen faster and have a better relationship with your pediatrician in the office.

Patient 3: 14 year old who nearly passes out on the toilet, and has gained weight and been overly tired for a year.

Should the patient come to the ED? This is a soft call. Passing out is something that raises red flags for us in the pediatric population, but in this case, there was no actual passing out. So either we're going to say he's sick with some virus, dehydrated, or something along those lines, or we're going to say that maybe he was straining a little too hard on the toilet and that's why he suddenly felt lightheaded.

What should you expect if you do bring this child in? A lot of reassurance. Maybe a few tests if something in the history raises a red flag for us. However, you should NOT expect us to magically cure your child or figure out what is wrong with him, nor should you expect us to be able to expedite your wait to get in to see a specialist. We can rule out any life-threatening causes of the passing out, but we are not going to solve the mystery as to why he has been tired so long, especially if you've already been seen recently by a pediatrician. That is not the purpose of the ED.

Patient 4: 8 year old who has had headaches on and off for months at various times of day. They go away with ibuprofen/Motrin/Advil, but usually come back.

Should this patient come to the ED? This patient was a little complex, but as he only had a minor headache when he came in, there really wasn't anything we could do for him. Since it was a chronic problem, and the headaches were going away, this is really a patient that should be seen in a general pediatrician's office.

What should you expect if you do bring this child in? Again, a lot of reassurance. While there is some diagnostic testing we can do, unless the child is getting worse, vomiting with the headaches, or they do not resolve with medication, the testing really isn't needed on an urgent basis, so we're probably going to refer him back to his primary pediatrician. If you don't have a primary pediatrician, we will gladly give you some numbers for some.


The bottom line? I won't fault you for bringing in your kid to the ED if you are worried something is wrong. But please, if the problem has been going on for a while, and your child doesn't appear to be getting worse, please call your primary pediatrician and have your child be seen there. You will probably get in and out faster anyway (since waiting times in the ED for non-urgent problems can be several hours, even after you are initially seen).