TOP > Director's Blog > > Something's Strange: Treatment of Developmental Disorders in Japan (4) Premature Diagnosis!

Director's Blog

Something's Strange: Treatment of Developmental Disorders in Japan (4) Premature Diagnosis!

Japanese

The other day, two patients were brought to me for a consultation, one after the other, for the first time. Both were one-year old children. In my experience, the reasons for consulting a doctor differ according to the child's age. When children are one year old, a common worry is that they do not yet walk. After reaching the age of two, there is an increase in such worries as "my child does not talk yet" or "my child seems hyperactive."

However, on that particular day, two children came to see me: a boy who was 19 months old and a girl who was 21 months old and both were said to have "signs of autism." Autistic spectrum disorder is generally diagnosed around the age of three when the development of language and social skills becomes clearly apparent. As early diagnosis and treatment are considered to be effective, screening methods have been developed for early diagnosis.

One well-known early screening method is a checklist called M-CHAT (Modified Checklist for Autism in Toddlers). Checking off answers to 23 easy questions is an easy way for the parent (usually the mother) to assess the risk of the child having autism. Among the different behaviors on the list, the act of pointing is given particular importance, and in the case of M-CHAT, three of the 23 listed behaviors include pointing.

The girl patient, who was 21 months old, had been examined at the age of 18 months and was thought to have autism because she "did not point to anything" and she seemed to demonstrate what is called the "crane phenomenon." The so-called crane phenomenon, often seen in children with autism, refers to the action of taking the parent's hand by the wrist and moving it closer to the desired item. Non-autistic (typical developing) children will usually ask for the desired item using language such as "I want some juice, please" and point to the desired object. The crane phenomenon is not observed only in children with autism, but it refers to behavior or gestures that substitute for verbal expression when it is not possible.

When I called the girl's name in my office, she did not answer, but looked in my direction. I was told that she did not point, so I showed her a picture book and asked her "Which is the __?" It was a bit difficult at first, but after she became a little accustomed to it, I showed her a picture of a lively town. When I asked her to find the puppy and then the kitten, she scanned the image from one end to the other and then pointed to the dog and cat. When I said "Let's do banzai" in an attempt to see if she would raise her arms, she grabbed the bottom of her skirt and seemed to be trying to take it off. Parents often ask young children to do banzai or lift up their arms when they get undressed. I interpreted this girl's actions as a sign that she was able to understand the intentions of others. Needless to say, however, the cardinal symptom of autism spectrum disorder is difficulty in understanding the intentions of others.

The 19-month old boy was thought to have autism spectrum disorder because he did not respond by pointing when given an examination at the age of 18 months. He had come to me for a second opinion because although he did not point while undergoing an examination, he was able to point to pictures in a book and call out the names when playing at home. They were told that there could be consequences if he did not start his treatment soon. It was also said that he avoided eye contact, but when I called his name, he gave me a quick glance. Looking at someone's face is evidence of social behavior. His mother was also concerned because she had been told that he did not seem to understand colors, so I showed the child some crayons and asked him which crayon was a certain color. He answered nearly all the questions correctly. He didn't point during the examination, but there are individual differences in the development of pointing as a response, and there are also children at the age of 18 months who do not do it.

The aforementioned M-CHAT is effective in screening the risk of autistic spectrum disorder, but it is reported that even among children who are considered to be at risk of having autistic spectrum disorder, those later diagnosed with it are reported to be approximately half(54%)*. Furthermore, two-thirds of children diagnosed as having autism spectrum disorder are found to have a negative result (low risk of autism spectrum disorder) according to M-CHAT**.

However, I can hear the argument that if there is even the slightest risk of autistic spectrum disorder, it is important to begin treatment as soon as possible. Unfortunately, there are many things we don't know about early treatment for autistic spectrum disorder and its effectiveness.

Early diagnosis and early medical treatment are effective for developmental disabilities—this persuasive belief was one reason for the mistakes made by pediatricians like myself about forty years ago. For premature babies who have a high risk of cerebral palsy, a diagnostic procedure called the Vojta method was used for early detection of cerebral palsy, and it was thought that a physical therapy called Vojta therapy could prevent cerebral palsy. In fact, the motor development of premature infants is underdeveloped and reactions resembling those of children with cerebral palsy were mistakenly interpreted as the preliminary stage of cerebral palsy. Even without Vojta therapy, conditions improved naturally.

M-CHAT is certainly able to detect high risk conditions of autistic spectrum disorder. Nearly half of the children who test positive, indicating presence of the risk, are later confirmed to have autistic spectrum disorder. However, to put it another way, this means that nearly half of the children will not develop autism spectrum disorder.

According to a large-scale epidemiological survey conducted in the United States, the percentage of children who have been diagnosed with autism spectrum disorder from the past to the present, account for 1.8% of the total***. In simple terms, the prevalence of the autistic spectrum disorder (rate of incidence) is 1.8%, but survey concludes that the prevalence rate is 1.1%. This means that 1.1% of children today have been diagnosed with autistic spectrum disorder, and 0.7% "were diagnosed with autistic spectrum disorder in the past, but do not have autistic spectrum disorder at present."

Many parents of children who were diagnosed as cerebral palsy high-risk infants using the Vojta method had to take them for treatment over a long period of time and dealt with many worries. The concerns and hardship faced by parents were all unnecessary and I think the fault lies with the pediatricians at the time.

The two children that I treated, who were between one and two years old, were most likely over-diagnosed. However, even if positive results are achieved with effective methods, such as M-CHAT, there is no need to assume that treatment must also begin immediately. As we have learned from the Vojta method, judgments made too early may also be faulty.


References
  • * Chlebowski, C. et al. Large-scale use of the modified checklist for autism in low-risk toddlers. Pediatrics, 131:1121-1127, 2013.
  • ** Stenberg, N. et al. Identifying children with autism spectrum disorder at 18 months in a general population sample. Pediatr Perinat Epidemiol. 28:255-262, 2014.
  • *** Kogan, MD, et al. Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007. Pediatrics, 124:1395-1403, 2009.
Profile

sakakihara_2013.jpg Yoichi Sakakihara
M.D., Ph.D., Professor Emeritus, Ochanomizu University; Director of Child Research Net, Executive Advisor of Benesse Educational Research and Development Institute (BERD), President of Japanese Society of Child Science. Specializes in pediatric neurology, developmental neurology, in particular, treatment of Attention Deficit Hyperactivity Disorder (ADHD), Asperger's syndrome and other developmental disorders, and neuroscience. Born in 1951. Graduated from the Faculty of Medicine, the University of Tokyo in 1976 and taught as an instructor in the Department of the Pediatrics before working with Ochanomizu University.
Write a comment


*CRN reserves the right to post only those comments that abide by the terms of use of the website.

Facebook

Japan Today

CRN Child Science Exchange Program in Asia

About CRN

About Child Science

Links

Honorary Director's Blog

Recommended