Monday, April 2, 2012
IACC Releases Its 2011 Summary of Advances in Autism Spectrum Disorder Research
On April 2, in honor of the fifth annual World Autism Awareness Day and HHS Autism Awareness Month the IACC has released its annual list of scientific advances that represent significant progress in the field. The twenty studies selected have given new insight into the complex causes of autism, studied clues that could lead to earlier diagnosis, and evaluated promising early intervention strategies. There have been many noteworthy findings in 2011 – a five-minute screen was shown to detect autism and other developmental disorders in 75 percent of affected toddlers, while an early intervention for two year olds led to substantial improvements in social and communication skills. Research has also added to what is known about autism risk and the underlying biology of the disorder – parents with children on the spectrum may be more likely to have another child with ASD than previously thought. New evidence suggests that spontaneous genetic mutations are found in many people with autism. Another notable finding challenges the notion that autism risk is primarily genetic, proposing that environmental factors play a greater role than suggested by previous studies. Researchers have also focused on the needs of adults – examining service use after leaving school, determining adult prevalence, and defining a research agenda to understand the needs of older adults with ASD. As scientists continue to make strides in the field, World Autism Awareness Day is an opportunity to recognize progress and assess what more must be done to fully understand the disorder and ensure that people with autism receive the support they need to achieve their maximum potential.
The articles selected for the 2011 IACC Summary of Advances are listed below. Articles are organized by question area in the Strategic Plan for ASD Research:
Question 1: When Should I Be Concerned?
- Disrupted neural synchronization in toddlers with autism – Dinstein I, Pierce K, Eyler L, Solso S, Malach R, Behrmann M, Courchesne E. Neuron. 2011 Jun 23;70(6):1218-25.
- Detecting, studying, and treating autism early: the one-year well-baby check-up approach – Pierce K, Carter C, Weinfeld M, Desmond J, Hazin R, Bjork R, Gallagher N. J Pediatr. 2011 Sep;159(3):458-465.e1-6.
Question 2: How Can I Understand What Is Happening?
- Mutations causing syndromic autism define an axis of synaptic pathophysiology – Auerbach BD, Osterweil EK, Bear MF. Nature. 2011 Nov 23;480(7375):63-8.
- Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits – Peñagarikano O, Abrahams BS, Herman EI, Winden KD, Gdalyahu A, Dong H, Sonnenblick LI, Gruver R, Almajano J, Bragin A, Golshani P, Trachtenberg JT, Peles E, Geschwind DH. Cell. 2011 Sep 30;147(1):235-46.
- Protein interactome reveals converging molecular pathways – Sakai Y, Shaw CA, Dawson BC, Dugas DV, Al-Mohtaseb Z, Hill DE, Zoghbi HY. Sci. Transl. Med. 2011 Jun 8;3(86):86ra49.
- Transcriptomic analysis of autistic brain reveals convergent molecular pathways – Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ, Geschwind DH. Nature. 2011 May 25;474(7351):380-4.
Question 3: What Caused This To Happen and Can It Be Prevented?
- Genetic heritability and shared environmental factors among twin pairs with autism – Hallmayer J, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, Miller J, Fedele A, Collins J, Smith K, Lotspeich L, Croen LA, Ozonoff S, Lajonchere C, Grether JK, Risch N. Arch Gen Psychiatry. 2011 Nov;68(11):1095-102.
- Rare de novo and transmitted copy-number variation in autistic spectrum disorders – Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M. Neuron. 2011 Jun 9;70(5):886-97.
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations – O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. Nat Genet. 2011 Jun;43(6):585-9.
- Recurrence risk for autism spectrum disorders: A Baby Siblings Research Consortium study – Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L, Bryson S, Carver LJ, Constantino JN, Dobkins K, Hutman T, Iverson JM, Landa R, Rogers SJ, Sigman M, Stone WL. Pediatrics. 2011 Sep;128(3):e488-95.
- Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism – Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Davis Wright NR, Dhodapkar RM, Dicola M, Dilullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS,Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW. Neuron. 2011 Jun 9;70(5):863-85.
Question 4: Which Treatments and Interventions Will Help?
- A systematic review of medical treatments for children with autism spectrum disorders – McPheeters ML, Warren Z, Sathe N, Bruzek JL, Krishnaswami S, Jerome RN, Veenstra-Vanderweele J. Pediatrics. 2011 May;127(5):e1312-21.
- Intervention targeting development of socially synchronous engagement in toddlers with autism spectrum disorder: a randomized controlled trial – Landa RJ, Holman KC, O'Neill AH, Stuart EA. J Child Psychol Psychiatry. 2011 Jan;52(1):13-21.
- Randomized, controlled trial of the LEAP model of early intervention for young children with autism spectrum disorders – Strain PS, Bovey EH. Topics in Early Childhood Special Education. 2011 Nov;31(3):133-154.
Question 5: Where Can I Turn For Services?
- Post-high school service use among young adults with an autism spectrum disorder – Shattuck PT, Wagner M, Narendorf S, Sterzing P, Hensley M. Arch Pediatr Adolesc Med. 2011 Feb;165(2):141-6.
Question 6: What Does the Future Hold, Particularly for Adults?
- Epidemiology of autism spectrum disorders in adults in the community in England – Brugha TS, McManus S, Bankart J, Scott F, Purdon S, Smith J, Bettington P, Jenkins R, Meltzer H. Arch Gen Psychiatry. 2011 May;68(5):459-65.
- Autism spectrum disorders in older adults: toward defining a research agenda – Piven J, Rabins P; Autism in Older Adults Working Group. J Am Geriatr Soc. 2011 Nov;59(11):2151-55.
- Emerging new practices in technology to support independent community access for people with intellectual and cognitive disabilities – Stock SE, Davies DK, Wehmeyer ML, Lachapelle Y. NeuroRehabilitation. 2011;28(3):261-9.
Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?
- Trends in the prevalence of developmental disabilities in US children 1997-2008 – Boyle CA, Boulet S, Schieve LA, Cohen RA, Blumberg SJ, Yeargin-Allsopp M, Visser S, Kogan MD. Pediatrics. 2011 Jun;127(6):1034-42.
- Prevalence of autism spectrum disorders in a total population sample – Kim YS, Leventhal BL, Koh YJ, Fombonne E, Laska E, Lim EC, Cheon KA, Kim SJ, Kim YK, Lee H, Song DH, Grinker RR. Am J Psychiatry. 2011 Sep;168(9):904-12.
The IACC is a Federal advisory committee that was created by Congress in an effort to accelerate progress in ASD research and services. The IACC works to improve coordination and communication across the Federal government and work in partnership with the autism community. The Committee is composed of officials from many different Federal agencies involved in autism research and services, as well as people with ASD, parents, advocates, and other members of the autism community. The documents and recommendations produced by the IACC reflect the views of the Committee as an independent advisory body and the expertise of the members of the Committee, but do not represent the views, official statements, policies or positions of the Federal government. For more information on the IACC, please visit: www.iacc.hhs.gov.