Thank you to all our supporters, whose funding made the following discoveries possible in November. Explore more of the studies we’re funding with our Grant Search.
* Empathic Responding in Toddlers at Risk for an Autism Spectrum Disorder. McDonald NM and Messinger DS. J Autism Dev Disord. 2011 Nov 1. [Epub ahead of print]
* Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders. Malenfant P, Liu X, Hudson ML, Qiao Y, Hrynchak M, Riendeau N, Hildebrand MJ, Cohen IL, Chudley AE, Forster-Gibson C, Mickelson EC, Rajcan-Separovic E, Lewis ME, Holden JJ. J Autism Dev Disord. 2011 Nov 3. [Epub ahead of print]
* An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males. Chung RH, Ma D, Wang K, Hedges DJ, Jaworski JM, Gilbert JR, Cuccaro ML, Wright HH, Abramson RK, Konidari I, Whitehead PL, Schellenberg GD, Hakonarson H, Haines JL, Pericak-Vance MA, Martin ER. Mol Autism. 2011 Nov 4;2(1):18.
* Epigenetic Signatures of Autism: Trimethylated H3K4 Landscapes in Prefrontal Neurons. Shulha HP, Cheung I, Whittle C, Wang J, Virgil D, Lin CL, Guo Y, Lessard A, Akbarian S, Weng Z. Arch Gen Psychiatry. 2011 Nov 7. [Epub ahead of print]
* Risperidone-Related Improvement of Irritability in Children with Autism Is not Associated with Changes in Serum of Epidermal Growth Factor and Interleukin-13. Tobiasova Z, Lingen KH, Scahill L, Leckman JF, Zhang Y, Chae W, McCracken JT, McDougle CJ, Vitiello B, Tierney E, Aman MG, Arnold LE, Katsovich L, Hoekstra PJ, Volkmar F, Bothwell AL, Kawikova I. J Child Adolesc Psychopharmacol. 2011 Nov 9. [Epub ahead of print]
* Neuron Number and Size in Prefrontal Cortex of Children with Autism. Courchesne E, Mouton PR, Calhoun ME, et al. JAMA.2011;306(18):2001-10.
* Behavioral and Physiological Responses to Child-Directed Speech of Children with Autism Spectrum Disorders or Typical Development. Watson LR, Roberts JE, Baranek GT, Mandulak KC, and Dalton JC. J Autism Dev Disord. 2011 Nov 10. [Epub ahead of print]
* Sex differences in repetitive stereotyped behaviors in autism: Implications for genetic liability. Szatmari P, Liu XQ, Goldberg J, Zwaigenbaum L, Paterson AD, Woodbury-Smith M, Georgiades S, Duku E, Thompson A. Am J Med Genet B Neuropsychiatr Genet. 2011 Nov 16. [Epub ahead of print]
* Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement? McGrew SG, Peters BR, Crittendon JA and Veenstra-Vanderweele J. J Autism Dev Disord. 2011 Nov 17. [Epub ahead of print]
* Participation in Social Activities among Adolescents with an Autism Spectrum Disorder. Shattuck PT, Orsmond GI, Wagner M, Cooper BP. PLoS One. 2011;6(11):e27176. Epub 2011 Nov 14.
* Exploring the Relationship Between Autism Spectrum Disorder and Epilepsy Using Latent Class Cluster Analysis. Cuccaro ML, Tuchman RF, Hamilton KL, Wright HH, Abramson RK, Haines JL, Gilbert JR, Pericak-Vance M. J Autism Dev Disord. 2011 Nov 22. [Epub ahead of print]
* Normal Rates of Neuroradiological Findings in Children with High Functioning Autism. Vasa RA, Ranta M, Huisman TA, Pinto PS, Tillman RM, Mostofsky SH. J Autism Dev Disord. 2011 Nov 22. [Epub ahead of print]
* QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders. Lu AT, Yoon J, Geschwind DH, Cantor RM. Mol Psychiatry. 2011 Nov 22. [Epub ahead of print]
* Very Little High-quality Evidence to Support Most Medications for Children with Autism Spectrum Disorders. Coury D. J Pediatr. 2011 Nov;159(5):872-3.
Having one comprehensive “medical home” is crucial for families of children with special medical needs. That’s the conclusion of a new report in the journal Pediatrics. And it’s the philosophy at the heart of Autism Speaks Autism Treatment Network. Read more on our science news page …
By Geri Dawson, Chief Science Officer, Autism Speaks
Last week, a paper was published in Pediatrics that argued against the routine screening for autism by pediatricians. Three investigators who are part of the Autism Speaks Baby Siblings Research Consortium and I submitted a letter to the editor in response to this paper, which has now been published. The link to the original article and the letter are provided below. Our letter provides a strong rationale and empirical evidence to support the American Academy of Pediatrics recommendations that all children be screened for autism at their 18 and 24 month checkups.
This exchange highlights the important role of the scientific research in directly influencing policy and clinical practice. We were able to cite research, much of which was conducted by Autism Speaks Baby Siblings Research Consortium investigators, to counter the inaccurate statements by the authors of the Pediatrics paper.
A new report was released yesterday in the journal Pediatrics that questions the value of uniform early screening for autism spectrum disorders. The premise behind the report titled, “Early Autism Detection: Are We Ready for Routine Screening?” was a desire to evaluate the usefulness of universal screening for infants at 18 to 24 months of age given what is known about the quality of screening tools, the availability of effective treatments, and other considerations.
The authors argue that there have not been enough quality studies comparing screening tools. The availability of effective treatments for those who screened positive is also far from wide or uniform causing the authors to question the value of screening overall.
Autism Speaks remains in support of American Academy of Pediatrics recommendation that all infants be screened for autism spectrum disorders.
The sense of urgency of our mission to create a world in which suffering because of autism no longer exists demands identification and intervention as early as possible, where we do, in fact, have data for the effectiveness for intervention. Dr. Geraldine Dawson, chief science officer of Autism Speaks says, “Early intervention has been shown to result in significant increases in cognitive and language abilities and adaptive behavior, allowing children the best chance for a positive outcome.
Instead of closing the door to an opportunity to guide the development of an infant who is headed toward struggles with an atypical development, we must create new opportunities for those infants to thrive. Indeed, the path to obtaining effective treatments that target the unique needs of your child is still shadowy, but it is something to which are bringing light together. Autism Speaks supports research on effective early screening methods as well as finding best ways to deliver interventions that were shown to be effective to all those who need them today.
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