The Diagnostic Odyssey of Autism Spectrum Disorder

Making Sense of Child Differences

All participants discussed how their experiences with pediatricians, parenting books, online resources, and family and peer interactions helped them develop expectations for their own child’s development. However, some parents reported challenges making sense of differences their children exhibited compared with their peers and in relation to expected developmental milestones. These participants often did not initially view their child’s development as warranting medical attention, which led to challenges when an ASD diagnosis was introduced. One mother recalled the experience with her daughter:

She was my first [child]. I just figured she didn’t want to talk that much, I had nothing to compare to. I had some friends that had their kids, some were kind of talking a lot and some didn’t. But you aren’t supposed to compare your kids at that age so I thought nothing of it.

Another mother explained how she initially interpreted her son’s developmental trajectory in comparison with his closest peer. She said:

We have some close family friends and we were fortunate enough to be pregnant together and we raised our children together. Their baby was the girl in their family, so she was always quick to those mile markers: wow, she’s crawling, she’s talking, she’s doing all these things. And I always thought, she’s a girl and that’s probably why my son is just a little slower. But our son was always so sweet and calm and didn’t require much. It seemed like he was content that way. He never really fussed, he liked going down to bed. Up until my son was 14 months old, I thought everything was fine.

Rather than suggesting the need for a formal evaluation or diagnosis, these parents and others we interviewed initially interpreted their children’s behaviors as normal deviations from expected developmental milestones or reflections of their unique personalities. Although others we interviewed communicated concerns about their children with their pediatricians, in these cases it was often the pediatrician who raised the possibility of an ASD diagnosis with parents. As a participant explained:

I didn’t notice that my son was behind until my pediatrician said, “Look I think we have something that we are overlooking here.” She asked me a series of questions on our well check. . .She pointed out he is not pointing, he’s not making good eye contact, he’s not talking, he had a very thick glaze in his eyes, it was just like a disconnected stare. Those really frightened me. . .But I kinda thought, really? There’s something wrong? And at first, I questioned it. And every family member that we shared it with said, “That’s ridiculous, he’s just a baby, you can’t think anything of that, he’s going to grow out of it.”

In this case and many others, parents felt conflicted as they reconciled professional advice and the perspectives of trusted friends or family members. Others we interviewed were frustrated with the response they received when they brought concerns about their child’s development to their pediatrician's attention. A father explained:

I would tell [our pediatrician] these things, like little milestones that my son should be hitting. And he’s just like, “No, don’t worry about it. Boys are late. You overthink everything, you over analyze everything. Just relax, he’ll get there.” And my mother’s intuition was like, “This is not good.”

Although all our participants’ children ultimately received a formal evaluation by a developmental specialist and an ASD diagnosis, these experiences suggest the important role that pediatricians, family members, social networks, and previous perceptions of child development all play in determining when and if autism is diagnosed. In addition, these accounts reveal the personal challenges that parents often experience reconciling different perceptions of their child’s development before an ASD diagnosis takes place and the important role that a child's gender can play in this process. Understanding the influence of these contexts on caregiver experiences can assist physicians in supporting families through this initial phase of the diagnostic odyssey.

Navigating the Diagnosis

The second phase of the diagnostic odyssey conveys how structural conditions can influence the diagnosis experience while it is taking place. Many participants remarked on the long waiting periods they experienced between their child’s initial referral to a specialist and a formal ASD diagnosis. These extended periods of time caused parents to feel a profound sense of uncertainty and frustration as they waited. Although many participants reported that pediatricians provided timely referrals, families nevertheless often waited months to obtain a specialist’s assessment. One father described the process, stating:

First, you need to go to your pediatrician and the pediatrician has to make the referral to a specialist, and after you see the specialist, that’s when you get the diagnosis added. But that takes a while. The only thing I get very, very mad about is the process to get everything done takes so long. Like for my son, I had to wait months to get just an evaluation and I think it’s just wasting time… you can’t get the services during that time, because you don’t have the evaluations yet.

Others expressed similar frustrations, as another parent explained:

I felt like… when you say I’ll have to wait some months, it’s killing me, because that is time that my child could be learning or at least you could be evaluating them. You could be doing more testing, but I have to wait months. It is something that I know he already has, it’s torture, that we had to wait months.

Another parent explained the discrepancy between an emphasis on early intervention and the amount of time it took for his son to be diagnosed. He said, “The process took almost a year. So, the system is kind of bad, it’s very bad. . .If you do the process soon, you can get more therapy and more help for my kid, right? But this doesn’t happen.”

Our participants explained that an ASD diagnosis ultimately gave their children access to in-home speech and behavioral therapies, school-based services, and helpful professional and personal networks. However, nearly all the parents we interviewed felt they had lost valuable time with these resources because of the long waiting periods between referrals, assessments, and access to ASD-related services. To circumvent these delays and the feelings of frustration that often accompanied them, several participants described paying out of pocket for services while they waited for confirmation of their child’s diagnosis. This is an option that many others we interviewed could not afford.

Connecting to Services

After their son or daughter was diagnosed with ASD, nearly all of our participants expressed emotional, financial, or social challenges navigating the complex ASD-related service system. This led many to feel they had to personally advocate for their child to receive adequate services. These efforts required extensive time and energy on the part of all the parents we interviewed. Many participants described adjusting their work schedules or leaving their jobs to accommodate the new responsibilities associated with their child’s care. Others described moving to cities or school districts that had more reliable resources. Many also conveyed difficulty in gaining effective forms of personal and medical support during this period, including childcare and individual therapy. Although our sample was not varied enough to account for differences by education or socioeconomic status, reflected in this theme are experiences that are likely to be impacted by these factors. Even after parents secured services for their children, many felt they needed to remain vigilant to keep those resources in place, especially during school and life transitions.

Many of our participants described challenges navigating the systems related to autism care while juggling other responsibilities. One mother explained feeling overwhelmed after her daughter’s ASD diagnosis, stating:

I have to do everything, so I have to work, I have to take care of my daughter, I have to talk to all these people to get all these assessments and appointments. Sometimes, I forget some of these appointments because there are so many appointments.

As the quote below reflects, other parents hoped their pediatrician would provide more guidance after their child’s diagnosis:

Basically, I was the person investigating all the information, like how you get [services] and everything. My pediatrician never really told me, “Oh, you have to do this. . .” It’s more like I have to do everything. And I was thinking in the beginning that it’s the responsibility of the doctor to tell me what is right.

Even when medical professionals played a more central role in assisting families, the decentralized nature of ASD-related services meant that many parents felt personally responsible for coordinating their child’s care. Although some participants embraced this role, others felt uncertain about whether and to what extent they should engage with the services available to their child. One mother’s experience suggested the persistence she felt was involved in gaining access to ASD-related services. She explained, “You have to wake up, start walking, and start knocking doors to get the services. Because I think that the problem [is] you need to knock a lot of doors.”

After families gained access to services for their children, many described a period of adjustment not only to the complex systems of care related to ASD, but to the approach of some services. Because many interventions rely on caregivers’ active participation and reinforcement, some parents noted a personal transition that accompanied these new ways of interacting with their children. One mother described an experience that others also shared, recounting the challenges and opportunities associated with ASD-related therapy for her son:

Every child has their own personality and I thought my son’s autism was his personality. So, me trying to break into that world was something I was apprehensive to do. . .It was a challenge, it is the biggest blessing and the scariest thing at the same time.

In this instance and many others, participants conveyed the often conflicting feelings they had about providing the best care for their children as they experienced the autism diagnostic odyssey.