Accomplishments

Created and fostered multi-disciplinary and multi-institutional collaboration:

• By providing a framework for regular meetings and discussion, different groups of scientists and clinicians have regularly come together to discuss their work in autism, share knowledge and ideas to improve care and treatment, assess and plan for research, and most importantly collaborate across institutions and disciplines.

• The intellectual dynamism of this collaborative effort has helped to attract many new scientists and clinicians into the field of autism in the Boston area, and has spurred interest in copying the model in other parts of the United States, notably the Southeast.

• Now in our 6th year, and with relationships with so many professionals in the field and the multi-faceted institutions where they are based, the Consortium continues to use its unique ability - through the board and staff - to make connections where there is opportunity for progress or when there is a perceived impasse.  Cooperative engagement and collaboration continue to be paramount for rapid advancement in this complex field.

Created an innovative Family Support Program to Enhance Patient Care and encourage families into research:

• Created a Family Support Network, beginning with establishing a network of five hospital sites including: Children's Hospital Boston, Lurie Family Autism Center (MGH), The Floating Hospital for Children at Tufts Medical Center, Boston Medical Center and UMass Medical Center. Clinicians meet regularly to share ideas about best practices and to share challenges in clinic management. 

• Created a team of five autism resource specialists who were trained and placed in each of the five clinics to assist the clinicians by directly helping families (~150 per month) locate the services they need over the first year, make the clinics more efficient so more patients can be seen, and importantly, establish a relationship with the family for potential later engagement in autism research. To date, the team has helped more than 4,500 families.  

  • A survey of parent satisfaction survey revealed a substantial increase in satisfaction with the overall clinical experience and overwhelming satisfaction with the Autism Resource Specialist role in providing enhanced support and resources.

  • Clinicians report that the addition of the Autism Resource Specialists enables them to provide a higher quality of care and see substantially more patients with a reduction in wait lists.

• Created comprehensive resource materials including a Parent Information Packet (available in six languages including Spanish, Portuguese, Chinese, Vietnamese, Haitian-Creole), an on-line searchable database for autism services throughout MA, and an on-line events calendar for workshops and conferences.  A very successful parent education series for underserved and minority populations augments this and is coordinated in conjunction with the clinics.  To read more about these resources please visit our Parent Information Packet page.

• Created a manual titled “Transitioning Teens with Autism Spectrum Disorders: Resources and Timeline Planning for Adult Living”.  Beyond providing concise guidance that is desperately needed as many young people age out of school services, the manual further expands our outreach to families and provides another mechanism for potentially encouraging them toward autism research.  The manual is available for free download on the AC website and is being widely marketed to organizations focused on the autism community. To read or download this resource please visit our Transitioning Teens with Autism Spectrum Disorders page.

• Built an extensive network of community partners. The Consortium intentionally and continually cultivates partnerships with community organizations in order to expand our reach to many more families than those served in the clinics, to facilitate trainings and to augment our calendar offerings. 

Created collaborative research opportunities involving families as partners:

• Established and funded a coordinated team of genetic counselors within each hospital/clinic site to work with the doctors and families to enhance participation in two research studies.  We also established consistent presence at autism community events to reach more families and convey the importance of being involved in this and other on going autism research.

• Nearly 1,000 families were recruited and enrolled in two AC studies in less than four years; 75% of these families have agreed to be re-contacted for future studies.

  • An initial study was funded involving 500 local families demonstrated that chromosomal microarray analysis (CMA) is better able to identify genetic abnormalities than other clinically available genetic tests, and therefore should be part of the initial evaluation as the standard of care for patients with ASDs. These results were published in Pediatrics March 2010, volume 125. To discover more on CMA please visit our Press Releases page.

  • A second study was initiated and funded to increase understanding of the many subtypes of autism, by collecting biological samples and extensive phenotype data on affected individuals and families. 483 families were enrolled and 43 more are in completing their study participation at Children’s Hospital Boston.  Participating families have received an extensive feedback report for their use in individual education planning and for working with neuropsychologists and other medical professionals.

• The Consortium now has a local repository of over 1,700 biological samples and associated phenotype data.   Samples were contributed to the national repository of biological samples and data at the NIMH. A local set of these samples is also stored at the Broad Institute.

• Requests for access to the AC data and samples are reviewed by the Steering Committee and numerous studies are underway. 

Contributed to Cross Institutional Research:

• Contributed funding and expertise to undertake a whole genome scan for autism, using Affymetrix’s state of the art 5.0 chip on Autism Speaks’ AGRE sample of  3,000 individuals.  Analysis identified a de novo deletion and duplication on Chromosome 16 (16p11.2) that makes an individual 100 times more likely to have an ASD.    Affiliated researchers at Children’s Hospital Boston immediately verified the clinical significance through genetic testing of more than 500 patients referred for suspected ASD and found additional deletions/duplications on Ch 16. These results were published in The New England Journal of Medicine in January 2008.   A test specifically targeting the chromosomal region 16p11.2 was subsequently made available at CHB.

• Building on genetic findings, the AC assembled a multi-institutional, multi-disciplinary group of researchers in Boston to begin elucidating the role of the 25 genes in the 16p11.2 region, in autism spectrum disorders.   Researchers are addressing the mechanisms of these genes by studying the signaling networks that regulate synapse and neural circuit development and assessing how disruptions in the 25 genes can lead to ASDs.  They are also using electrophysiological approaches to studying synaptic and neural circuit development and plasticity in mouse models of ASDs.

• Funded a first-of-its-kind multimodal neuro-imaging study using fMRI, ERP and MEG at three collaborating institutions: MIT, Children’s Hospital Boston and Massachusetts General Hospital.  Analysis of the data is underway and the results will contribute to understanding the underlying neurological causes of autism.

Funded Informatics Tools to encourage data collection, sharing, and research, and provide ready access to autism resources:

• Designed and built Caspar, a sample tracking application essential for our multi-site study with multiple biological samples generated and stored both in Boston and with a national repository. 

• Designed and built the Registry, an application for collecting and storing data from clinical genetics tests.  This tool is critical to integrate data from five hospital sites across the Boston area.

• Designed and built DRGeneS, an application essential for collecting and understanding phenotypic data.  This database includes the medical and family history and all phenotyping information for each family in our study.  This tool is critical to integrate medical information, family history information, and phenotyping assessments from 5 sites across the Boston area.  Researchers are using this database or numerous research projects.

• Designed and built the Query Aggregator, a tool for designed to access and analyze Autism Consortium data.  The first release included data from the Clinical Genetics project. 

• Designed and built the Autism Resources Database, which provides clinicians and Autism Resource Specialists with specific and tailored information for families.  The database includes over 600 programs and services in New England.  This information and tool has very positively and directly impacted families’ ability to access resources that have been recommended by the clinicians and made clinicians and ARS more efficient in their work in helping families.  

Contributed to Developing Therapeutics:

• Building on work on the pathophysiology of autism and new understanding of some the pathways involved, a number of AC researchers are engaged in developing novel therapeutics for ASDs, including Rett Syndrome, Tuberous Sclerosis and Fragile X.   Specifically, in Rett Syndrome, the AC helped to engage Dr. Mriganka Sur in the autism field and contributed funding for his work on MeCP2.  The AC also engaged the National Rett Syndrome Association to support Mriganka’s efforts and an associated clinical trial at CHB.   More recently, the AC made a vital connection to venture capital investors, one of whom has provided additional funding towards a clinical trial.

• The AC was also a funder for Dr. Mark Bear's research which has lead to an exciting new therapeutic for Fragile X that is now in clinical trials. 

• In addition, many Consortium clinicians are eager to work with the pharmaceutical industry to hasten the development of therapeutic treatments, and pharma is equally interested in working with our academic partners toward the same end.

Future Plans:

• Social networking outlets will be leveraged to further expand our connections with families, encourage their involvement in research and to engage more community partners in our work.

• We continue to strongly encourage our members to make use of the Autism Consortium biological samples and phenotypic and demographic data.  Numerous research studies are currently underway.

• Based on initial dialogue with ten companies begun at our 2010 Fall Scientific Symposium, the Consortium is ready to embark on its next collaboration in the therapeutic arena.  We intend to engage industry, researchers and clinicians in a set of meetings to set priorities toward impacting autism, gain consensus on clinical targets and explore models for how best to work together.