Very Early Diagnosis and the Very Early Autism Phenotype

I believe that Charlie was autistic at birth.

Whether or not a child is born with or develops autism in her or his early years is not the main focus of a special issue of the Journal of Autism and Developmental Disorders (January 2007) on “The Very Early Autism Phenotype,” but the question hovers over each of the articles. The journal’s entire contents (17 articles) can be accessed online as PDF files. An editorial preface by Nurit Yirmiya and Sally Ozonoff explains the historical roots of the topic and summarizes the papers, which focus on the following:

• Antecedents and very early signs of autism spectrum disorders (with a focus on the infant siblings of autistic children and on the youngest children diagnosed with ASD and their parents)
• Developmental milestones and trajectories of young siblings of children with ASD and their association with the broad autism phenotype (researchers looked at infant siblings of children with ASD in regard to such factors as affective displays, joint attention, and non-verbal communication skills)
• Methodological issues (each of the 14 studies in the special issue followed one of three methodological types: prospective studies of high risk samples, prospective follow-along studies of very young children just diagnosed with autism, and retrospective investigations using parents’ reports of the early characteristics of children with autism)
• Study of the broad autism phenotype (BAP) in infants (it is noted that previous studies reports features of the BAP in 15-45% of family members of autistic persons)
• Age of diagnosis (it is noted that detecting autism before a child is 2 years old “may be particularly difficult for prospective samples” (8); here the researchers weigh the ethics of early diagnosis in considering the usefulness of diagnosing a child at the earliest possible age with the inducement of “unnecessary worries, stress and anxiety” (9) in a family who already has an autistic child)

The question raised by the studies in this special issue of the Journal of Autism and Developmental Disorders that particularly intrigues me is, indeed, the question of whether or not autism is, or is not, “always present (or at least clinically evident) ‘at birth’ as once thought” (9). Here the authors raise the question of causation and suggest that

The magnitude of the genetic predisposition, as well as that of the responsiveness to environmental influences, may be associated with various variables such as the number of children already diagnosed with ASD in the family, gender of the child (and, where applicable, also of the older sibling with autism), level of functioning, and parent-child relations. (9)

In contrast to Leo Kanner’s assertion in his 1943 study that autism is present “‘from the very beginning of life’”), Yirmiya and Ozonoff note that the papers in this issue of Journal of Autism and Developmental Disorders “contest that claim,” as signs of autism present in a child “‘far earlier than the diagnosis is currently made, yet they emerge over time and are not always evident even to the expert clinical eye before 12 months.” Is it that some children are born autistic (as is the case, I think, with my son Charlie, while others are “at risk” of developing it and may or may not, depending on circumstances (and I am not quite sure what is meant by the role of “parent-child relations” as one of the factors impinging on a child potentially developing autism)?

For myself, I would have been glad to have known even earlier than I did. Charlie was diagnosed when he was just over 2 years old in 1999, and we knew that “something was not right” when he was as young as 10 months old and had some gross motor delays. The pediatrician blamed me for catering too much to Charlie as the reason that he did not crawl, could barely sit up and could not pull himself up from a sitting to a standing position. “Let me get this right. This is what happens: He cries and you run and pick him up?” she asked me.

“Well, yes,” I said. What else was I supposed to do as the mother of my child?

It would be many months before Charlie could walk—15 months, after much encouragement and creativity on Jim’s and my part and some bad falls: Charlie had long legs like a grasshopper and a very large head, which he fell straight down on (he did not put out his hands to break his fall—this was a skill he only learned when he was 6 or 7 years old). Charlie’s daycare teachers thought it was autism and tried to communicate this at a meeting with Jim and me when he was 18 months and not talking (and exhibiting only repetitive play with the CD player). Jim took a deep breath and I proceeded to be in denial for three more months, during which I dropped off an increasingly upset Charlie at daycare and went to 9am Latin class with red eyes day after day until I finally called the St. Paul School District and had Charlie evaluated.

I am hopeful for the development of the “very early autism phenotype” such as the papers in the January 2007 issue of the Journal of Autism and Developmental Disorders describe. For yes, it would have helped if I could have known then that an autism diagnosis, especially one given to a young child, is no death sentence, but is the first step towards the beginning of a good life together with my son Charlie.