Diagnosing Autism in Infancy?

Two juxtaposed slides presented at a talk by William Singletary on autism at last years annual American Psychoanalytic Association's meetings capture, in my opinion, the essence of the disorder. In one, a baby is held in the soft embrace of mother's arms, gazing back into her adoring face. In another, a baby screams as he looks into the wide open mouth of a fang bearing snake. These photographs vividly demonstrate that these children experience the world not as as soft and loving, but rather as harsh and frightening.

When the gene for autism is finally discovered, I believe it will be closely linked to the processing of sensory input. While non-autistic newborns experience touch and a loving face as comforting, autistic children are overwhelmed, and so retreat to the world of inanimate objects.

A New York Times article this past week At the Age of Peekaboo, in Therapy to Fight Autism describes current research into diagnosis and treatment in infancy, using an intervention based on the Early Start Denver Model. I referred to this intervention in my Boston Globe op ed about the limits of medication in treatment of autism.

An intervention, the Early Start Denver Model, was offered in the homes of families, with parent, child, and therapist playing together. In the two-year study period, toddlers diagnosed with autism showed significant improvement in behavior, language, and IQ. The authors attribute the success of their intervention to the fact that it is “delivered within an affectively rich, relationship-focused context.’’

While I have some concerns about diagnosing autism in infancy (more about that below) I feel strongly that a relationship based intervention is the way to go. If I am correct, and the primary problem lies in the way an infant experiences his environment,it is a quality with which he enters the world. But immediately after birth, this genetic vulnerability begins to wreak havoc on the environment.

Holding, feeding, comforting-these are the actions that give a new mother not only pleasure, but growing confidence in her mothering capacities. When she fails at even one of these, such as with a spitty baby who has difficulty tolerating feeds, a sense of inadequacy can follow. But if you multiply that to cover all the senses-if being held is not comforting, if singing provokes screaming,smiles are too much, that inadequacy can be devastating. Mothers may become depressed. Marriages are severely strained. Siblings may be neglected, become resentful and act out. For these reasons, it is essential that from the very beginning these problems are treated in the context of relationships.

Another study published this past week described in a Reuters article Autism risk gene may rewire brain looks at the brains of children with autism using functional MRI.

The team measured the strength of brain connections as the children worked. They found children with the version of the gene linked with autism called contactin associated protein-like 2 or CNTNAP2 had strong brain connections within the frontal lobe, but weaker connections to the rest of the brain."In children who carry the risk gene, the front of the brain appears to talk mostly with itself," Ashley Scott-Van Zeeland, now at Scripps Translational Science Institute, said in a statement.

In a previous blog post, I have describe the way in which early mother infant interactions wire the brain.

When a parent gazes into her baby’s eyes, she literally promotes the growth of her baby’s brain, helping it to be wired for a secure sense of self. The medial prefrontal cortex(MPC) has been referred to as the “observing brain.” It is where our sense of self lies. When a mother looks at a baby in a way that communicates with him, not with words but with feelings, “I understand you,” he begins to recognize himself, both physically and psychologically. This mutual gaze, literally and figuratively being “seen,” actually facilitates the development of the baby’s brain. As the MPC matures in this kind of secure loving relationship, the brain is wired in a way that will serve him well for the rest of his life. He will be able to think clearly and to regulate feelings in the face of stressful experiences.

It makes perfect sense that if this mutual gaze process goes awry from the start, the projections from the frontal lobe to the rest of the brain would not develop properly. Again this leads back to the critical importance of relationship based treatments.

All of which leads to my concern with the labeling of young infants with a devastating psychiatric disorder. I wish there were a way to recognize the infant's experience of the world, and to support parents efforts to interact with their infants in a way that reflects this understanding, without pathologizing it from the start. This would mean acknowledging that there is something different about these children that makes caring for them extremely challenging. It would mean offering services to families, such as the Early Start Denver Model, but without necessarily labeling infants as autistic.

Some parents may find comfort in a label. It demystifies their difficulties and relieves alot of the guilt and sense of inadequacy. But there is a process of mourning that goes along with receiving such a label and may affect the way parents see their child for the rest of his life. Also there is a risk that the family context of the problem is overlooked when the problem is seen as residing exclusively in the child.

I don't have an easy answer for this dilemma. But these news stories have motivated me to put the ideas out there, and I hope start a discussion about these challenging questions. Of one thing I am certain. The answer lies in continuing to devote resources to identifying these problems early, and supporting early parent-child relationships, with the long term goal of facilitating the healthy emotional development of the next generation.