Beyond stigma

When I’ve talked to researchers about the reportedly low prevalence of autism outside of the U.S., Canada and the U.K., the word that comes up repeatedly is ‘stigma.’ Some South Korean families, to use an oft-cited example, think of autism as a mark of shame, and are hesitant to seek medical help for their child’s developmental problems.

Less talked about are the parents in developing countries who do, in fact, seek help — sometimes hundreds of miles from home — but have trouble getting it because of poor healthcare infrastructure, high costs, long lines and, most dishearteningly, doctors’ lack of awareness. That was what struck me the most in a survey about Rett syndrome in Chinese families, published 21 November in the American Journal of Medical Genetics Part A.

Reported rates of autism prevalence in China are notoriously low. The most recent, published 11 November in Epilepsy & Behavior, is based on a survey of 771,797 households in 31 provinces. The researchers found an autism prevalence of just 0.02 percent in children aged 17 years or younger, far lower than the 1 percent reported in the U.S.

This is one of a handful of autism prevalence studies done in China, most of which have looked at specific regions and are in Chinese. Even the highest rate reported so far, 0.11 percent, is an underestimate, according to the researchers on the new study.

It’s not surprising that these studies have found low rates, because doctors, parents and teachers in China apparently don’t know enough about autism to flag troubling symptoms. When researchers led a rigorous autism screening study in South Korea, for example, they found a prevalence of 2.65 percent, but three-quarters of the children identified had not been diagnosed before the study.

Identifying rare forms of autism, such as Rett syndrome, is even more difficult because the symptoms are less known and require genetic testing for a definitive diagnosis. Based on Rett prevalence in other countries, the authors of the new Rett survey estimate that about 1,000 girls are born with the syndrome in China every year. Yet only around 200 cases have been identified to date.

The researchers found 74 Chinese families of children with Rett syndrome who had joined an international online resource called the International Rett Syndrome Phenotype Database. Of these, the team contacted 14 for more comprehensive surveys and phone interviews about their interactions with the healthcare system.

Many of their stories are similar to those of American parents. For example, some of the children were initially misdiagnosed with cerebral palsy or intellectual disability. Many families complained of long waits, high fees and short consultations with doctors.

But other anecdotes are striking.

Some families traveled hundreds of miles to get to a hospital, only to wait many hours, or even days, to see a doctor. One doctor accused a mother of lying because her daughter, who is non-verbal, smiles well. Three families, despite their repeated inquiries, were never given the results of the genetic tests performed on their child. Many families complained that, even after getting a definitive diagnosis, they received no guidance or further information. As one mother said, even at the specialist hospitals, “they don’t know about genetics or Rett. So why would we go there for medical help?”

This is a small sample of children with an extremely rare genetic condition. But I think some of these trends — lack of resources, empathy and awareness about developmental disorders — hold true for many areas of the world with low autism prevalence rates. Combating stigma is important, but there are many other challenges to be tackled to raise autism awareness across the globe.