Accomplishments

Created an innovative Family Support Program to Enhance Patient Care:

• Autism Resources Specialists (ARSs) were hired and trained across 5 hospitals; they are in contact with 150-180 families per month and have had over 5,000 contacts with families to date.
  

• Created a comprehensive Parent Information Packet which includes 13 information sheets on topics such as Transitioning to School, Community Resources, Insurance and Grants. These Parent Information Packets are available at affiliated hospitals and on this website. To download a copy or view the packet Click Here

• The Parent Information Packet has recently been translated into Spanish, Portuguese, Vietnamese, Haitian-Creole and Chinese.
  

• Developed a comprehensive and searchable Resource Database that clinicians, ARSs and families can utilize to find services and programs in Massachusetts and surrounding states. To view the Resource Database Click Here
  

• Developed a calendar of events, workshops, conferences and activities specifically designed for providing support, information, and resources to children and adults with autism spectrum disorders and their families. To view the calendar of upcoming events Click Here

• A survey of parent satisfaction (6 months before the start of the ARS program and 6 months after) 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.
  

• Clinicians across Boston meet regularly to share ideas about best practice and clinic management.

Clinical Genetics/Recruitment Network

• Panel of 3 genetic tests (Fragile X, Karyotype and Microarray/500K) was agreed upon and provided as standard of care at 5 hospitals as a part of our "Standards of Genetic Testing for ASD" study.
  

• Recruited and enrolled 517 families in under 1 year
  

• Obtained significant results to be submitted for publication by January 2008
  

• Tracked insurance coverage of tests and analyzed data to be used in efforts to increase insurance reimbursement
  

• Clinicians report a substantial increase in knowledge and ordering of genetic tests for families as a result of the study
  

• Developed successful recruitment network across 5 hospitals as well as community recruitment. Over 680 families have been enrolled in 2 IRB-approved studies to date. The majority of families enrolled to date have agreed to be re-contacted for future AC studies.
  

•  Developed a local data (Massachusetts General Hospital) and sample storage (Broad Institute) repository. 

Family Characterization

• Full teams at Massachusetts General Hospital and Children's Hospital Boston were hired and trained.
  

• Data collection efforts contiune. Since January 1, 2009 a total of 158 families have completed the characterization process and an additional 138 families have been enrolled.
  

• Preliminary participant satisfaction survey results suggest that the overwhelming majority of families were satisfied with the consent process, assessment battery performed, and report received. The majority of families completed the entire assessment battery with 3% not completing due to language or location barriers.
  

• Feedback from families suggests that the research report provided is useful in IEP planning and modifications, and is accepted by local neuropsychologists (thus adding additional information to the neuropsychology report and saving families and clinicians time).
  

• Expanded recruitment efforts to include broader community-based outreach; working collaboratively with NE area resources, including St Francis Hospital in CT and the IAN Network (through Autism Speaks).
  

• Crafted a Manual of Procedures to capture and document the history and current status of all relevant decisions made by key working group members, by core topic, as they relate to the Autism Consortium family characterization and sample collection activities.

Gene Finding

• Using the new Affymetrix GeneChip Human Mapping 500K array to scan the DNA of over 3,000 individuals, Autism Consortium researchers identified a missing or duplicated piece of chromosome 16 containing 15 genes, a chromosome not previously associated with ASDs.  The microdeletion/duplication in chromosome 16 makes an individual 100 times more likely to have an ASD.
  

• By collaborating with Children's Hospital Boston, the research team was able to immediately verify clinical significance through analysis of over 500 clinical chromosome microarray tests of patients referred for developmental disorders.
   In January 2008, The New England Journal of Medicine published the first significant results of the Autism Consortium Genome Scan. 
  

• Comparison of balanced translocations in ASD subjects confirmed neurexin 1 (NRXN1) as an autism susceptibility gene and demonstrated variable penetrance of a clearly inactivating mutation, in a paper published in the American Journal of Human Genetics in January 2008.
  

• Using homozygosity mapping in a Middle Eastern population our researchers identified a half a dozen new genes implicated in Autism.  That paper was published in Science in July 2008.
  

• In the Journal of Medical Genetics (online Sep 2008), AC investigators reported on further characterization of a second recurrent microdeletion/microduplication region in chromosome 15q13.2q13.3 associated with autism spectrum disorder, a variety of neuropsychiatric disorders, and cognitive impairment.
  

• Our researchers also completed a gene association analysis in collaboration with Johns Hopkins University that identified one SNP of genome-wide significance.  A manuscript is under review at Nature.  
  

• Researchers are also undertaking a comprehensive deep re-sequencing program using new cutting edge technology to identify the range and nature of genetic variants that contribute to ASD susceptibility in those regions identified in our scan, in comparison with genes/pathways previously suggested to participate in the disorder.

Informatics

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

• Design and build the Registry.  The registry application is essential for collecting and storing data from clinical genetics tests.  This tool is critical to integrate data from 5 sites across the city.
  

• Design and build DRGeneS.  DRGeneS is the application essential for collecting and understanding phenotypic data.  This database includes the medical and family history and all phenotyping information for each family.  This tool is critical to integrate medical information, family history information, and phenotyping assessments from 5 sites across the city.  Researchers will utilize this database to stratify families by phenotype for gene finding efforts.
  

• Design and build the Query Aggregator.  The Query Aggregator is a sophisticated tool for designed to access and analyze Autism Consortium data.  The first release included data from the Clinical Genetics project. 
  

• Design and build the Resources Database.  This database 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 greatly impacted the care that families receive and made clinicians and ARS more efficient in helping families.
  

Models and Mechanisms/Therapeutics

• Two new treatments for Autism Spectrum Disorders involving the Autism Consortium are moving into clinical trials.  
  

• Work by Dr. Mark Bear of MIT reported in Neuron in late 2007 has resulted in potential treatment for Fragile X syndrome.  Children's Hospital Boston is one of a national network of sites to be involved in the clinical trial, with support from the National Institute of Mental Health.
  

• Based on the MeCP2 mouse model for Rett Syndrome researchers have identified a candidate therapeutic that has been shown to reverse the phenotype in mice even at late stages of the disease.  A pilot clinical study protocol has been designed.
  

Cognitive Neuroscience

• Designed a complex protocol that can be used with three different imaging modalities: fMRI, ERP, and MEG.
  

• Submitted and received approval for all IRB protocols spanning the four institutions involved.
  

• Piloted the protocol with all three imaging modalities.