IAN Research Report #13, From First Concern to Diagnosis and Beyond
Date First Published: February 24, 2010
As the nation's largest online autism research project, the Interactive Autism Network (IAN) has received information from thousands of families regarding their first worries about their child, and that child's eventual diagnosis with an autism spectrum disorder (ASD). What is this journey like? What behaviors or circumstances lead a family to worry about their child? After they begin to worry, how long does it take to get a formal diagnosis? How often does this diagnosis change over time?
Please Note: These Findings Are Preliminary
The analyses presented here by the Interactive Autism Network are preliminary. They are based on information submitted via the Internet by parents of children with autism spectrum disorders (ASD) from the United States who choose to participate. They may not generalize to the larger population of parents of children with ASD. The data have not been peer-reviewed -- that is, undergone evaluation by researchers expert in a particular field -- or been submitted for publication. IAN views participating families as research partners, and shares such preliminary information to thank them and to demonstrate the importance of their ongoing involvement.
It is an arduous journey, moving from a first realization that something may be wrong with a child's development, to seeking an evaluation, to receiving a diagnosis, to arranging interventions...all while slowly adapting to a very challenging situation.
"The first time I felt real fear..."
There are a number of red flags that can occur in the early development of a child with an autism spectrum disorder. These are described in detail on the website First Signs in order to help anxious parents decide if what they are observing is some normal variation in development or something that requires expert attention and assessment. Describing behaviors they had noticed, families participating in the IAN Research project named many of the telltale signs:
- "At 20 months, our son suddenly began banging his head on floor for no reason, stopped playing with his toys, lost 2 of the 5 words he had in his vocabulary, began high-pitched screaming, and perseverated on watching Barney videos. Any attempt to shut off the TV resulted in intense panic from him."
- "Even as an infant, our daughter liked being alone.... She never cried for me when she awoke. I would either have to wake her, or she would be awake, lying sweetly looking at the ceiling. She did not make eye contact when breastfed, but looked at ceiling fans or something behind me. I could feel the disconnect, but, as mothers do, I blamed myself, and tried to be a more perfect mom. The disconnect only grew."
- "He began screaming when showering, claiming that the water felt like needles, became highly overwhelmed in loud or public places, and he also started having problems maintaining eye contact."
- "Our son would tantrum if the blocks he lined up moved even 1/16th of an inch -- he lined up toys rather than played with them."
- "The first time I felt real fear was when he did not respond to his name multiple times, even though I was looking directly at him and speaking in a loud voice. He was just sitting in his high chair, staring into space...."
For those parents whose child experienced a sudden loss of skills, concerns were abrupt and immediate. "The change was overnight," one mother said. "One day he seemed normal and the next he was screaming at everything, head banging, not babbling or learning any new words. When we picked him up, he would fling his body back almost out of our arms."
For many others, concerns grew more gradually. If a child was speaking well, liked to interact (even if in his or her own eccentric way), or had other strengths, real worry might not begin until that child was viewed in a setting where there were typical peers for comparison. "When she began preschool, the teacher expressed concern that she was very immature compared with the other students," said one mother in a case where intellectual ability had masked social deficits. "We thought this was odd given her exceptional attention span and advanced vocabulary."
Sometimes, concerns were raised by a relative, a teacher, or another person who had had some personal experience with autism. More often, a parent who expressed his or her fears was told not to worry -- by friends, relatives, or even the pediatrician. "I knew right away something was wrong, but could not put my finger on it. I remember saying to my husband, "I just don't feel like I'm bonding with him.' Every time I said something to the pediatrician he would say: "Relax, he's just a boy.'"
In fact, a number of parents of sons commented that they were told "boys are just slow" when they raised concerns. This will hopefully happen less frequently now, as pediatricians are being strongly encouraged not to dismiss any parental concerns. In an address at the Autism Society of America national conference that took place in St. Charles, Illinois, July 22-25, 2009, Judith Palfrey, M.D., president-elect of the American Academy of Pediatrics (AAP), told families that the AAP is working hard to get the word out to pediatricians that they should take a closer look whenever a parent expresses concern, even if, based on the pediatrician's limited contact with the child, the doctor does not share that concern. They are encouraged to stop, to listen, and to assess whether a more detailed evaluation is required, perhaps by a developmental pediatrician or other specialist.
Time in Limbo -- From First Concern to Diagnosis
It is very stressful to be worried about your child yet have no concrete answer about whether something is truly wrong. From the time of their first worries to the time they got an autism spectrum diagnosis, how long did IAN families wait?
Families participating in IAN Research were asked specifically when they had experienced their first concern about their child. For children eventually diagnosed with autism, the average age at this time of first concern was 1.4 years, while for children with pervasive developmental disorder-not otherwise specified (PDD-NOS) it was 1.6 years. First concerns arose somewhat later for parents of children with a diagnosis of Asperger syndrome -- the average age of first concern for these children was 2.6 years. This is likely because children who receive an Asperger diagnosis generally have no speech delay or cognitive impairment. They may also, despite social deficits, seek out social contact -- they can smile and talk at length about their favorite things. (Talking "at" people rather than "to" them is one hallmark of Asperger syndrome.) 1 2
The gap between the time parents began to worry and the time they got a formal diagnosis was often lengthy -- a real problem when early intervention is so crucial. IAN families with a child with autism reported waiting an average of 1.7 years for a diagnosis, while families of children with PDD-NOS waited an average of 2.1 years. For children with Asperger syndrome, the average wait between first concern and diagnosis was especially long: 4.6 years. (See Table 1.) The average age of diagnosis was around 3 years for children with autism, closer to 4 for children with PDD-NOS, and about 7 for children with Asperger's.
|Initial Diagnosis||Average Age at
|Average Age at
Initial ASD Diagnosis
Between First Concern
and Initial ASD Diagnosis
A Bewildering Range of Possibilities
Part of what makes diagnosing and understanding ASDs so difficult is their complexity. First of all, they affect nearly every area of functioning, which is how they came to be called pervasive developmental disorders. At the same time, they are "spectrum disorders," which means functioning in each of these many areas can be at a different level, depending on the individual. It's not nearly so simple a thing as deciding whether someone is "low functioning" or "high functioning." One must also decide how low or high functioning, and in which areas. Verbal ability? The ability to read social cues? Repetitive behaviors? Obsessive interests? These are commonly considered the core aspects of autism. But there are many other areas of difficulty people with ASDs experience, including sensory sensitivities, problems with executive function and the ability to organize oneself, attention difficulties, aggression or meltdowns, anxiety, mood issues, gastrointestinal problems, and seizures. If people with ASD can be anywhere on a spectrum for each of these and many other factors, no wonder it is often said, "If you know one person with autism, you know one person with autism." 3
If you would like to learn more about autism spectrum disorders in general, see "About ASDs."
If you would like to learn more about challenging behaviors associated with ASD, see "Challenging Behaviors."
Diagnoses Given Before the ASD Diagnosis
Sometimes a person on the autism spectrum may have received a different label before a formal ASD diagnosis was given. For example, very young children sometimes receive a more general diagnosis as evaluators attempt to get services for the child while waiting to see how the child develops. Parents participating in IAN Research whose children were diagnosed at a young age often mentioned that they'd been given designations like "speech delay," "general developmental delay," "communication disorder," or "sensory-integration disorder" at some point before they received their child's ASD diagnosis. Children diagnosed at an older age, on the other hand, often had received diagnoses that got at aspects of the ASD, or perhaps at co-occurring conditions, before the ASD was formally identified. Such children "are frequently misperceived as having willful or defiant behavior problems in the classroom, at home, or in the community." 4 IAN parents mentioned a variety of labels their children had received prior to the ASD diagnosis, including obsessive-compulsive disorder (OCD), bipolar disorder, attention deficit hyperactivity disorder (ADHD), or oppositional defiant disorder (ODD). One mother described how her child was given many labels before he finally received an ASD diagnosis:
"For the first 6 years of my son's life, we were told it was something he would grow out of. After beginning school it was apparent he was not developing socially at the same rate as his peers. When he was finally 9 years of age he was diagnosed with ADHD, OCD, Social Anxiety, and ODD. We spent 4 years in mental health treatment for all of the above with no mention from his doctors or therapist of autism. Then I stumbled on the word autism while web searching. I immediately contacted our local department of disabilities and special needs to request an evaluation. Our son was finally given the diagnosis of autism."
Going through a series of such diagnoses was tough on parents, and made even worse if they were told their poor parenting was responsible for their child's behavior. One mother confided, "The very first of the learning or social diagnoses my son got was ADD/ADHD, and that I was a bad mom and he was a bad, uncooperative kid. Then it was ODD and bipolar disorder...."
An ASD diagnosis could even come as a relief, especially if it brought home that a child's extreme behaviors were not the result of poor parenting. A formal ASD diagnosis could also open the door to needed services or treatments, and the possibility of some real help at last.
What autism spectrum diagnoses did children first receive?
Of all the children participating in IAN Research, 39% received an initial diagnosis of autism, and 32% received an initial diagnosis of PDD-NOS. About 14% received Asperger syndrome as their first diagnosis, with the remaining 15% receiving the more generic "Autism Spectrum Disorder" or "Pervasive Developmental Disorder" designation. (See Figure 1.)
"Other ASD": generic Autism Spectrum Disorder or Pervasive Developmental Disorder
There are many potential places to go for a diagnosis. IAN families told us they had received an initial diagnosis from developmental pediatricians (22%), psychologists (19%), neurologists (17%), a "team of health care specialists" (14%), or one of many other alternatives, including psychiatrists or school-based teams.
Change in ASD Diagnosis
The first ASD diagnosis a child received changed over time in about 25% of cases. The most stable diagnoses were autism and Asperger syndrome. In other words, most children who received an Asperger syndrome or autism diagnosis initially kept that diagnosis; it was changed later only about 10% of the time. Children who received a first diagnosis of PDD-NOS, or one of the more generic ASD or PDD diagnoses, on the other hand, were much more likely to receive a more specific ASD diagnosis later. As shown in Figure 2, about 25% of those who received an initial diagnosis of PDD-NOS received an autism diagnosis eventually, with another 10% ending up with an Asperger diagnosis. Similarly, those with "Other ASD" (that is, generic ASD or PDD) were changed to autism about 17% of the time, to Asperger about 7% of the time, and to PDD-NOS about 7% of the time.
The diagnoses currently held by children with ASD participating in IAN are shown in Figure 3. The number of children who started out with a PDD-NOS diagnosis decreased by about 10% (from 32% whose first diagnosis was PDD-NOS to 22% who have that diagnosis currently), while the number with autism increased by about 8% (from 39% to 47%) and the number with Asperger syndrome increased by about 4% (from 14% to 18%).
Diagnoses in Flux
What do the different ASD diagnoses really mean? Do the various labels -- autism, Asperger syndrome, PDD-NOS -- actually stand for different conditions? The answer is: yes and no.
Our current ASD diagnoses come from the Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV) 5 -- the psychiatric handbook that defines all kinds of mental and developmental disorders. The diagnoses now described under the "Pervasive Developmental Disorders" section include autism, Asperger disorder, and PDD-NOS. The criteria for each were arrived at by experts pooling their knowledge and clinical experience to define these categories. Right now, these labels are based mostly on developmental history and observed behavior, plus clinical judgment. They are not based on biology, that is, on differences in blood factors, brain structures, genetics, or other measurable physical traits. No one can do a brain scan or genetic test and then declare, "Ah, yes! It's autism!" or "It's Asperger's!"
Researchers do hope to identify distinct autism subtypes based on biology in the future. There may be a variety of autism types, and each may have its own distinct profile, developmental pattern, and ideal treatments. Imagine a time when families will be told that their child has Autism Type 1 (or 2 or 3 or...), and we already know which treatments or medications work best for that type. Unfortunately, we are not there yet. Although there are some single gene conditions associated with autism, such as fragile X syndrome and tuberous sclerosis, these explain only a small percentage of ASD cases. 6 7 8 9 Exciting research is going on in the realm of genetics, including genome-wide association studies, but most findings are still very new and apply only to a small number of ASD cases. 10 11 12 13 14
The DSM-IV is undergoing a revision process at the moment, and at some point in 2012 the DSM-V will be published. 15 Acknowledging that we have not yet discovered different autism subtypes based on biology, those creating the new edition are considering having only one diagnosis: autism spectrum disorder. This will eliminate a great deal of confusion for parents and clinicians. In an April 2009 report, the Neurodevelopmental Disorders Work Group responsible for developing the autism spectrum criteria stated:
"The Workgroup is considering a change in the DSM-V that would replace the Pervasive Developmental Disorder (PDD) category with the title 'Autism Spectrum Disorders' (ASD). The change would utilize a single diagnosis for the disorders currently entitled: Autism, PDD-NOS, and Asperger disorder. Several factors support making this change:
- A single spectrum better reflects the pathology and symptoms.
- Separation of ASD from typical development is reliable and valid, while separation of disorders within the spectrum is variable and inconsistent.
- Individuals with autism, PDD-NOS, and Asperger disorder often are diagnosed by severity, rather than unique, separate criteria defining the three diagnoses." 16
Such a change may also help eliminate another factor muddling the picture in autism: the influence of external systems. Currently, parents or providers may prefer a label that gets the most services and support for a child, while larger institutions may resist a label that requires more effort or expenditure on their part. For example, one parent told us, "We were told up front that our son had Asperger's syndrome, but for insurance and school purposes he would be labeled PDD NOS or we wouldn't get any help at all." Said another, "In retrospect, I realized that the people diagnosing him knew he was autistic, but did not diagnose him with autism, only with PDD, because, at that time and location, the public schools did not have to provide as many services for a child diagnosed with PDD as for a child diagnosed with autism."
Although a new diagnostic system will take some getting used to, it is hoped by many that the DSM-V will be an improvement over the DSM-IV. Not only will it make it impossible to quibble over all these different labels and what services they entitle a person to, but it may also play a useful role for researchers. If the search for subtypes requires us to go back to the beginning and not depend on the old non-biologically based categories, having a new, all-inclusive ASD diagnosis may prove valuable. It will certainly emphasize that researchers need large sample sizes in order to look at all kinds of differences between individuals with ASD -- something that we hope IAN Research and our participating families will be able to provide.
- About ASDs - basic information about the autism spectrum.
- Autism Speaks' First 100 Days Kit - for families whose child has recently been diagnosed with an ASD.
- Autism Speaks' Autism Response Team (ART) responds to family inquiries and requests at 888-AUTISM2 (288-4762) and firstname.lastname@example.org.
- National Public Radio stories on proposed DSM-V changes: