Terisa P. Gabrielsen, PhD, Assistant Professor of School Psychology at Brigham Young University, specializes in autism spectrum disorder. She talked to Dr. Tony Nimeh of PracticeUpdate Primary Care about the benefits of early diagnosis and intervention in very young children suspected of having autism and how to identify the early signs, even in infants as young as 2 months.

Dr. Nimeh: Dr. Gabrielsen, how did you develop an interest in autism?

Dr. Gabrielsen: I came to the field of psychology after 25 years in a different career. I actually taught accounting in a community college setting for 25 years, and then I became interested in autism and switched fields completely. I have a PhD in school psychology from the University of Utah, where I was very fortunate to have been involved with researchers at the Utah Autism Research Project. My mentor there, Judi Miller, has an interest in early identification, which is how I got into the field of working with pediatricians and, actually, working across all disciplines to do a better job of identifying tiny kids with autism as soon as we can pick it up. I also was an intern at the Children’s Hospital of Philadelphia, and I completed a post-doctoral fellowship at the Center for Autism Research there prior to joining the faculty at Brigham Young University.

The earlier the better

Dr. Nimeh: What is the earliest age that we can hope to diagnose autism, and what are the benefits of early identification and early intervention?

Dr. Gabrielsen: The research is pretty solid in supporting 2 years as an age when we can identify autism. At age 2 years, that diagnosis will typically hold as the child gets older. So, in other words, we’re not misinterpreting what we see by age 2. However, autism researchers are always trying to push that age younger and younger, and the impetus for that is that the earlier we catch the signs of autism, the more we can do to intervene, and the better the outcome will be for the child. The theoretical underpinnings are that the brain is still rapidly developing, and, if we intervene early enough, we can have an impact on how that brain develops.

So, the earlier we can identify the signs, the more successful we think we can be in intervening and changing the outcome for the child and the family.

Dr. Nimeh: Do studies show a significant improvement in long-term outcomes if intervention is undertaken earlier?

Dr. Gabrielsen: There is quite a large body of research focused on a family of therapies classified as applied behavioral analysis (ABA) techniques. Some of the more classic studies actually looked at older children, but some of the newer ones have looked at children under the age of 2 years, as early as 18 months, and some even earlier than that. We’re looking at methods of working, not only with therapists, but with families to deliver interventions in fairly naturalistic settings.

One of the “treatment packages” that has had a lot of research lately and has received a lot of attention is called the Early Start Denver Model. It is a combination of therapeutic techniques based on ABA, with an emphasis on early language, communication, play, and developing relationships. It depends quite a bit on the parents becoming involved so that they can deliver intervention on a daily basis, not in a formal sit-in-a-chair–type setting, but in a very natural setting at home, although there are also formal activity goals that the parents are trying to accomplish each day

Therapists work with the parents and also directly with the children. The thing about autism intervention that a lot of people don’t understand is that it’s always individualized to what the child needs. So, we can have 100 children with autism who are exactly the same age, and we could have 100 different intervention plans going, depending on the particular skill that a child needs, how quickly he or she is acquiring new skills, and how responsive the child is to certain therapeutic techniques.

Although we would wish we could say, “Here’s your box of autism interventions,” that’s not how it works. If all children with autism had exactly the same symptoms, we could do that, but it’s such a diverse disorder. All of the interventions that we deliver have to be individualized. Although the theoretical foundations and the evidence base behind the techniques are sound, the interventions do look a little bit different for each child.

The challenge of diagnosing autism at a very young age

Dr. Nimeh: Why is diagnosing autism at a young age so challenging?

Dr. Gabrielsen: The thing that’s tricky for a physician is that what he or she sees in the exam room may not represent the child accurately. If you think about it, the doctor’s office is a very novel environment. The child is only there for a short period of time and may not be behaving in a manner that’s typical for him because he isn’t in his typical environment. Although there may be signs that the parent may have noticed and reported to the physician, the physician might not see them in a brief period of time.

In some children, you’ll see it immediately because their signs are so prominent. You could ride in an elevator with a child for 30 seconds and see enough signs to be able to know there is a developmental disorder of some kind. In other children, especially children in whom the symptoms are just barely starting to show up, you may not see it within a short period of time, and you may see a lot of really typical behavior that would seem to contradict the parents’ report. The physician, by training, has a tendency to reassure the parent that the child is developing normally based on observation, when that may not actually be the case. It’s not the physician’s fault. What he or she is seeing seems to support the conclusion that the child is normal.¹

But, the truth is, the parent is cataloging much more subtle signs that are occurring over long periods of time and may be the more accurate source of information for the physician to consider.

Signs that might raises suspicion

Dr. Nimeh: What are the signs that physicians can observe that might raise their suspicions?

Dr. Gabrielsen: We can discuss three categories of tools available to physicians:

• Screening instruments;
• Developmental milestones; and
• Early signs.

Screening

The American Academy of Pediatrics has recognized that every single child should be screened for autism with an autism-specific screening instrument at age 18 months and 24 months. So, this is screening twice during the toddler years.

One of the most commonly used instruments is called the M-CHAT, which stands for the Modified Checklist for Autism in Toddlers. It has recently been revised to make it more physician-friendly. It’s freely available in many languages. Adding screening to direct observation and parent report of information is the recommendation.

Developmental milestones 

Developmental milestones are very important. The CDC has a campaign called “Learn the Signs. Act Early,” which is targeted to parents to help them know what to talk about with their physicians. On the CDC website, there are developmental milestone checklists for each age starting at 2 months going all the way up to 6 years, and these developmental checklists tell a parent that this is what your child should be doing by about this age.

There is also a list of red flags. If certain developmental milestones are not happening by a specific time, these are things that parents need to talk to the pediatrician about. So, when parents are somewhat isolated, either because they don’t have family support or they’re not around a lot of other kids, or their child is a first child, they may have really very little idea of what is a typical developmental milestone and if their child is on track developmentally. These checklists can give those parents an idea of how their child is doing across all of the developmental domains, and they give them something to talk to the physician about regarding what they’ve noticed at home.

Early signs

One of the very earliest signs we’re looking for in babies—and we’re talking as young as 2 months old—is where the baby’s gaze is. We want them to be making eye contact at those early ages. We’re using very sophisticated equipment that shows us that, after age 2 months, we can start to see some very subtle differences in where a baby is looking. In other words, the baby may not be looking at eyes as much. She may be looking at mouths or hands, but she is missing the information that comes from looking at her parent’s eyes when the parent is trying to communicate.

We want to see social reciprocity developing, even in an infant. We’re looking for those great big baby smiles. We look for smiles that come when the adult smiles at the baby and the baby smiles back, or the baby just lights up when he sees the adult. So, if those smiles aren’t happening by about 6 months, we want to bring that to the attention of the pediatrician. In terms of language, we want to hear babbling with consonant sounds before 12 months and we want to start to hear some “mama,” “dada,” and repetition of sounds. If we’re not hearing those sounds—and not necessarily identifying mommy and daddy—by 12 months, we want to alert the physician.

By 2 years, if the child is not putting together two-word phrases like “more milk,” “go out,” and “want up,” that is a significant concern. Between 12 and 24 months, we’d expect a lot of words; between ages 2 and 3 years, we want the language development to just explode.

So, reciprocity is what we’re looking for in social communication before language comes in, and then we’re really paying attention to the language abilities.

Some of the restrictive and repetitive behaviors that are characteristic of autism in the later years aren’t very evident at all in those early years, and some people look at that as evidence that a child doesn’t have autism, but those restrictive, repetitive, lining-up, and visual inspection behaviors, some of those kinds of odd behaviors, may not yet show up in the tiniest little kids. Sometimes we can see them when we look back at home videos, but we’re primarily looking at these social and communication abilities when we’re looking for the very earliest signs of autism. Most parents will report delays in developing language as the symptom that first made them start talking with their pediatricians.