A project in Scotland to train up to 60 people with autistic spectrum disorder (ASD) for IT jobs has been awarded £407,036 from the Big Lottery Fund. Read more.
This guest post is by Jodi Picoult, author of “House Rules,” which is currently the top bestseller on The New York Times hardcover fiction list. “House Rules,” her 17th novel, is about a teenage boy with Asperger’s Syndrome. Picoult has a cousin who has Asperger’s Syndrome. Read more about her and “House Rules” at www.jodipicoult.com.
One of the great pleasures I’ve had on tour is meeting kids with Asperger’s Syndrome who are coming to my readings; or getting letters from people with Asperger’s who’ve already finished the book. It’s great to hear them say that they can identify with Jacob; that his voice sounds exactly like their own. One young boy stood up at an event to say that Jacob thought and spoke like he did and that he too has a special passion – not for forensics, like Jacob, but for vacuums! He got a standing ovation from the crowd, which was great for him. Last night I had an impassioned boy on the spectrum ask me how it felt when the ending of “My Sister’s Keeper” was changed in the movies – and believe me, he had the whole crowd behind him when he talked about how upset he got at the change. Then there are the letters I’ve received from parents of kids with Asperger’s who have wound up walking in Emma’s shoes, when their children are misinterpreted by the legal system. One dad wrote to share with me the story of his son’s two year trial – and how the comments made by the DA in ”House Rules” were almost verbatim what were said in the courtroom to his son. Another parent wrote to tell me about his son with Asperger’s Syndrome, who – after being bullied at school – brought one of his antique swords (his passion – collecting them) to show the school resource officer how he felt he had to protect himself. The officer, though, only saw a boy with a weapon – and shot and killed him. He said, “Our son was sweet and gentle, respectful of others. He had no history of violence. He was never even in detention. He was thrilled to be admired by younger Aspies for learning social skills to make friends with some kids at school. He delighted the entire family when he danced like Michael Jackson at his sister’s wedding, moves that he had practiced in his room. …I hope a book like yours might help other kids like Trevor and prevent a tragedy such as we’ve had to go through.”
It’s a funny thing when you write fiction – you don’t expect to change people’s lives, or to touch them so deeply. But every now and then you strike a nerve and get a letter like the one from Trevor’s dad. With 1 out of 110 kids being diagnosed on the spectrum, I expected parents who have children with Asperger’s to read ”House Rules” and be able to relate to it; to see their experiences validated. But if I had one hope for “House Rules,” it was that people who do not live with autism in their daily lives might take away the thought that “different from” doesn’t mean “lesser than”. I know that Autism Speaks is doing a lot of work to help raise awareness around the globe, and maybe reading about Jacob – and why he does what he does – will mean that the next time a reader runs across a kid who might not look her in the eye, or speaks differently than she does, or who makes a stimming motion with his hand – well, maybe that reader will think twice before dismissing the kid, or pretending not to see him at all.
This post is by Leanne Chukoskie, Ph.D. Leanne earned her Ph.D. at NYU’s Center for Neural Science studying the neural mechanisms that mediate vision during eye movements. During her postdoctoral training at the Salk Institute she studied search behavior in both humans and animals. A family connection as well as the curious manner in which people with autism tend to scan a visual scene led her to work for Autism Speaks as the Assistant Director of Science Communication and Special Projects. Leanne also continues her research as a Project Scientist at UCSD.
Studies from “identical” (monzygotic) twins show that if one twin has autism, the other twin will also have autism about 90% of the time. Because identical twins share 100% of their genes, these data offer the strongest evidence that genetic risk factors are involved in autism. However, those numbers cannot help any particular family discern what the genes or genetic abnormalities that are contributing to their child’s autism.
A new paper in the journal Pediatrics has instigated discussion over the best way to screen patients with autism in clinical settings for genetic mutations. Current practice guidelines recommend that a standard karyotype be performed, which looks at all of the chromosomes to see if there is something clearly amiss like specific chromosomal rearrangements or Fragile X Syndrome. This technique has been in use for some time, and one of its advantages is that this test is readily available and is considered the “standard of care”. The disadvantage, however, is that many individuals with autism have no karyotype-detectable genetic abnormalities and are left uncertain about the genetic contribution to their autism.
Dr. Bai-Lin Wu and colleagues have reported on another technique, chromosomal microarray analysis (CMA) that provides a more in-depth examination of genes and chromosomes. This test has been used in research settings for many years. The benefits of using CMA for clinical practice lies in its sensitivity to detect more subtle duplications or deletions in the genetic code (known as copy number variations or CNVs) that may be too small to be detected with a simple karyotype. The difficulty, however, lies in explaining to families what the “abnormal” findings mean, specifically, if they contribute to autism risk or if their occurrence is coincidental. This is important for families trying to make informed healthcare decisions, especially given the cost of the test (typically over $1000) may not be covered by insurance. Therefore, understanding the clinical implications of these potentially significant genetic findings is going to be a critical next step for clinical geneticists.
Although there is no doubt that learning more about autism susceptibility genes is critical for the field, we have to be very careful not to give parents false hope. CMA analysis may detect genetic differences that current research shows are unassociated only weakly associated with autism. This scenario would provide an inconclusive picture of the genetic contribution to one’s autism risk. On the other hand, for some other genetic differences, the benefit to individuals may be considerable. For example, research has identified an area on chromosome 22, including the Shank3 gene, that has repeatedly been associated with autism. While currently there is no rescue or specific treatment for individuals with this mutation, families that have a child with this particular mutation can support and learn from each other at the Phelan-McDermid Syndrome Foundation (http://www.22q13.org/). Scientists hope that more can be learned from individuals with autism that have known genetic disorders such as Phelan-McDermid Syndrome, Fragile X and Rett Syndromes.
There will always be a lag between research level diagnostics and the translation of that information into a clinical standard of care. Studies like this push the envelope to raise the bar for establishing higher clinical standards and guidelines. We need more research to determine how best to use this information to benefit the families.
Sheng Y. et al. (2010) Clinical Genetic Testing for Patients with Autism Spectrum Disorders. Pediatrics. Published online March 15, 2010; DOI: 10.1542/peds.2009-1684