Jay Ingram reports on a mother who journaled her twin babies' every development. The girl is neurotypical, the boy is autistic. With hindsight, developmental delays began appearing at six months of age, accelerating thereafter.
Autism is one of the most devastating — and puzzling — disorders challenging medical science. Now, a McMaster University psychologist has uncovered some precious clues to its beginnings.
Autism includes a wide range of symptoms, but the most important include a withdrawal from social life, problems with language and unusual attachments either to objects or the arrangements of objects.
The diagnosis of autism is usually made when a child is 2 1/2 or 3 years old, but there are reasons to believe the seeds of the disorder are sewn much earlier, perhaps even at birth. The problem is uncovering convincing evidence of that.
So, when Dr. Melissa Rutherford was told by the mother of twins, one of whom was an autistic boy, that she had kept, from the very beginning, a daily journal detailing the twins' health and behaviour, Rutherford realized she had a unique document.
Not only was this an exhaustive record of the boy's daily life before he was diagnosed at the age of 3, but his twin, a girl, served as a control child exposed to the same possible environmental effects that might have played a role in the onset of the condition.
The journal did not disappoint, even from its first pages. For instance, birth difficulties have been linked to the development of autism in the past, and indeed the twins' birth was difficult for both, but much more difficult for the girl, suggesting, at least in this case, that birth problems had not been the decisive factor.
The daily entries showed that six months of age might have been a turning point in the lives of these children. Before that, there was little discernible difference between the two children. They were developing normally and at about the same pace. However, as the twins approached their first birthday, things began to change.
The girl began to use verbal labels for things and people; the boy did not. From the age of 6 months to a year, the boy only used two different words, whereas his sister used several words a week. At every language milestone that followed, the boy lagged further and further behind his sister.
One of the hallmarks of autism is deficient social behaviour. Again in this case such deficits did not appear before 6 months, but soon after became more and more evident as time passed.
By the age of 11 months, the two twins were noticeably different — the girl communicated with others both verbally and non-verbally, but the boy avoided eye contact, displayed less affection for others than did his sister and often failed to respond to his name when called.
By the time he was 2, he preferred to be alone and play by himself. By the age of 3, a child psychiatrist remarked that he "does not offer comfort if others are in distress and will not come for comfort if he himself is hurt" and that he "will not engage in social play." By this time he was well on his way to fulfilling all the diagnostic criteria of autism.
Rutherford argues that there are two important ideas to come from this journal. One is that until the age of 6 months, there were no apparent behavioural differences between the two twins.
What this means isn't clear. It could be that there are signs of incipient autism present, but too subtle for us to detect, at least with current techniques. However, it might also mean that the disorder has not yet set in. Which one is true obviously has huge implications for causes. Are they there from the beginning? Or can the cause be traced to something that happens to the child after birth?
The other clear finding is that, while diagnosis is usually made around the age of 3, there are, at least in this case, clear signs of autism at least two years earlier than that. This suggests that it might be possible to diagnose the condition much earlier and put in place therapies that might improve the outlook for the very young, autistic child.
Not to be greedy, but this story would have been even more fascinating had the twins been identical, thereby exposing the role of genes in the origin of the condition.
Nonetheless, I suspect that much more will come from this document — it will be a reference for autism research for years to come
The longer article from Sharon Kirkey:
Mom's diary on twins reveals clues to autism
Language, sleep differed
Friday, February 11, 2005
Nathan Fougere is good with spelling and computers, and he can make his own movies by cutting and pasting DVDs off the Internet.
But he has trouble expressing disappointment. When a favourite gym class was cancelled this week, Nathan pinched himself, scratched himself on the arm with his pencil and punched himself, hard, in the chest.
"He does those self-infliction things when really stressed, but not all the time," his mother, Tina, explains.
Nathan, 12, has autism. His twin sister, Tasha, does not. Today, thanks to their mother's journals of their first five years, hundreds of pages of meticulous notes chronicling her children's development, doctors and researchers have a rare glimpse of the early development of the disorder.
In an article in the journal Neurocase based on the diaries, researcher Melissa Rutherford of McMaster University in Hamilton describes how, by age one, the twins "already differed in language development, social development, sleep patterns and sensitivity to pain" -- work that could lead to new theories about autism and new tests to diagnose the disorder within the first six months of life.
Between six and 12 months of age, Tasha babbled and spoke several new words a week -- "hat," "duck" and "toe." Nathan attempted just two during the entire six-month period: "ta ta" and "dare."
Children who develop autism usually are not identified until they are at least two years old, or sometimes three or four.
"There's not a reliable diagnosis before age two," Ms. Rutherford says. "But I believe autism is there earlier."
Children with autism need early treatment, she says, or else they risk drifting further and further from how a normal child would behave.
More than half a century after it was first identified, autism remains a medical enigma. The condition affects two to five children in every 1,000, and, for unknown reasons, four times as many boys as girls. Multiple genes are thought to be involved, and brain scans have revealed fundamental differences in the brain anatomy of people with autism.
Researchers have tried before to find subtle and early signs of autism. One team looked back at videotapes of the first birthday parties of children who were later diagnosed with the disorder. Tina Fougere, on the other hand, began keeping journals the day she found out she was pregnant. And she took these notes with an open mind -- with no thoughts about possible autism in her family.
Ms. Fougere met Ms. Rutherford, an assistant professor of psychology at McMaster, in the spring of 2003. Ms. Fougere is a founder of the Canadian National Autism Foundation, which raises money for Canadian research. She invited Ms. Rutherford to be a keynote speaker at a fundraising event, and it was at dinner later that night she told Ms. Rutherford about the journals she could not get other researchers interested in.
The chance to observe twins offered the perfect "control," Ms. Rutherford says, because there's no difference that might be based on race, socio-economic levels, diets, chemical exposure or other factors that could explain autism
Nathan entered the world first: He was delivered vaginally, five weeks premature. Tasha was delivered via emergency Caesarean section 35 minutes later, the umbilical cord wrapped around her neck. While both babies experienced distress, Tasha's was the more traumatic birth -- which goes against the theory that a traumatic delivery causes autism.
Nathan continued at first to be the stronger twin. But then he started to show subtle signs of autism.
By age six months, Tasha started using labels for objects and people. Nathan, who suffered early hearing loss from numerous ear infections, did not, and was doing "double-phrasing," for example, "tee tee" and "po po." During the second year, he would point, or grunt at something he wanted, "because the words weren't there," Ms. Fougere remembers.
Tasha preferred family to strangers. Nathan shied away from both.
By 11 months of age, he was making less eye contact and showing less affection. He would hide behind a chair and ignore visitors. By age two, he had an intense interest in patterns and puzzles. Ms. Fougere recalls how he "dumped the puzzle out of boxes, the pieces upside down and, not looking at the face of them, grabbed the right piece to do the puzzle." He lined toys and objects up in rows, or by colour.
At age three, he started to squint and "peek through his eyes." He started banging his head against the wall and floor, and spinning in circles. If he hurt himself, he did not look for comfort.
Nathan was diagnosed with autism when he was three and a half. What is remarkable, Ms. Rutherford says, is how early he showed symptoms.
"I think that it gives us a clue about what's going on in this early development in autism."
Ms. Fougere still marks down things every day. Nathan continues to struggle with language, but he is in a regular classroom with his twin.