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Brookline Education Foundation, Brookline, MA

Using Yoga to Improve Self-Regulation, Motor Skills and Communication in Young Children with Special Needs

The NLM Family Foundation provided a grant to the Brookline Education Foundation to sponsor two early childhood educators’ participation in a five day teacher-training program designed to help educators of children with special needs discover the many benefits of yoga. In this program, titled “Every Kid’s Yoga: Teaching Yoga to Children with Special Needs,” participants learned a variety of yoga-based techniques to support and enhance other therapeutic modalities (occupational therapy and speech and language therapy) resulting in improved learning and school performance. This program provided ideas to address issues associated with disabilities such as Autism Spectrum Disorders, Sensory Processing Disorders, Speech and Language Based Learning Disabilities, and Attention Deficit Hyperactivity Disorder. The anticipated outcome of this project would be for Brookline educators to receive formal training by learning a systematic and integrated therapeutic approach to teaching yoga for use within their early childhood programs. The intent is for students to present with improved self-regulation, focus, organization, and ‘availability’, all necessary prerequisites for learning. Their hope is that using yoga with their students and through collaboration with other Brookline Early Education educators, they will directly improve the education of al Brookline early childhood students.

Brookline Education Foundation

Children's Hospital - Boston , Boston , MA

Principal Investigator: Isaac Kohane, M.D, Ph.D.

Small RNAs and Editing in Autistic Brains

Autism is a common neurodevelopmental disorder characterized by a spectrum of social deficits, communication impairments, stereotyped interests, and repetitive behavior. Twin and family studies provide substantial evidence that autism is among the most heritable complex disorders, but the molecular mechanism underlying the majority of autism cases remains unknown. Understanding the genetic basis of autism is needed to improve diagnosis and provide critical targets for intervention and prevention. The long-term goal of this research is to characterize the genetic and molecular mechanisms that predispose to autism spectrum disorders (ASD). The objective of this research project is to investigate the involvement of RNA-mediated post-transcriptional regulation in ASD. MicroRNAs (miRNAs) and small nucleolar RNAs (snoRNAs) are gaining increasing recognition for their key role in orchestrating complex brain development. Both molecules are heavily involved in A-to-I editing, which is crucial for appropriate animal behavior. As the regulators affect multiple transcripts, each subject to sequence variation of its own, the investigators hypothesize that alterations in these upstream regulatory mechanisms can account for the broad phenotypic spectrum and complex inheritance pattern observed in autism.

Kohane Laboratory

Harvard Medical School, Boston, MA

Nancy Lurie Marks Clinical and Research Fellowship Program in Autism

The Nancy Lurie Marks (NLM) Clinical and Research Fellowship Program in Autism will provide nearly $5 million over six years to support HMS faculty and students interested in autism and related neurological disorders. The program will fund autism-focused basic and clinical research in a range of fields, including genetics, genomics, neurology, neuroscience, psychology, informatics, developmental pediatrics, endocrinology and molecular biology.

In addition, it will integrate participants across researcher levels, providing funding for junior faculty and postdoctoral trainees, as well as medical students in the new Scholars in Medicine and HMS-PRIME (MD–MMSc) programs. As such, the Nancy Lurie Marks Clinical and Research Fellowship Program in Autism is building on HMS initiatives that enhance opportunities for student research and promote translational science.

This initiative provides research and training opportunities in autism for two groups of students.  Two NLM Clinical and Research Fellows are selected each year.  These fellows are drawn from multiple fields—from medicine as well as from pharmacy, nursing, or allied health fields.  Most will have completed an MD degree as well as one or two years of clinical sub-specialty training.  Each Nancy Lurie Marks fellow (junior faculty member or postdoctoral trainee) and scholar (medical student) will work with an expert mentor and laboratory in autism research at HMS, either on the Quad or in one of the HMS-affiliated academic medical centers.

To expose a greater number of students to work in autism, four NLM Summer Scholars in Medicine are selected each year, two of whom could continue on at a later stage in their medical school careers to become NLM Scholars in Medicine during the academic year.  These fellows and scholars will then be part of a community of autism researchers across the HMS community and will also interact with parallel groups of young researchers throughout HMS.

Harvard Medical School

Massachusetts Advocates for Children, Boston, MA

Establishment and Support of the Autism Special Education Legal Support Center

The goal of this project is to provide training, technical assistance, and advocacy services necessary to ensure that children with autism receive equal educational opportunities. Goals include: Providing parents with information about state-of-the-art services and programs available to meet individual needs of students with disabilities; Insuring that children with autism receive special education services necessary to reach their potential in areas impacted by their disability; Increasing public awareness and understanding of the potential and competency of individuals with autism, targeting policy makers, media, educators, service providers, as well as the general public. The Autism Special Education Legal Support Center will accomplish these goals by: providing community-based workshops for parents, educators, and medical professionals regarding legal rights and range of service options available for children with autism; providing a hotline to give legal and technical assistance to families of children with autism; training attorneys to increase representation of low-income students with autism to ensure that children receive legally mandated special education services; and providing information to the media, the legislature, and other policy makers regarding changes necessary to ensure children with autism receive services that reflect their potential.

Click here to read the NLMFF Interview with Massachusetts Advocates for Children

Massachusetts Advocates for Children

Massachusetts General Hospital, Boston, MA

Establishment of the Lurie Family Autism Center

In 2009, Nancy Lurie Marks and the NLM Family Foundation donated $29 million to Massachusetts General Hospital (MGH) to create the Lurie Family Autism Center, a model multidisciplinary center which will provide diagnosis, research and treatment for autism spectrum disorders. The NLM Family Foundation and MGH share a passionate commitment to developing a world-class multidisciplinary center in autism dedicated to comprehensive clinical care, cutting-edge research, advocacy and public policy analysis, as well as providing training for a new generation of clinicians and researchers – all focused on meeting the needs of autistic individuals from early childhood through adulthood.

The center’s director will occupy an endowed chair at Harvard Medical School and through this gift and the ongoing commitment of MGH to outreach and fundraising, will be provided with the resources to create an environment promoting the discovery and testing of new treatments and the training of future leaders specializing in delivering medical care to the autistic population. The center will build upon the clinical practice at LADDERS, a program of the MassGeneral Hospital for Children providing expertise in neurology, developmental pediatrics, gastroenterology, psychiatry and psychopharmacology for children with autism.

The new Lurie Family Autism Center will increase the core services comprising LADDERS, as well as offer families and individuals occupational, communication and physical therapies. The gift will allow the expansion of the clinical program into adult internal medicine, augmentative communication, nutrition, audiology, vocational and transitional planning support, and a key element, care coordination between clinicians, therapists, educational and family counselors and researchers. The gift will also establish a two-year fellowship program for young physician-researchers in training to work actively with patients at the center, informing their work as physicians and as researchers. The center will also be a participant in a separate multi-institutional medical training program at Harvard Medical School, also funded by the NLM Family Foundation, to educate a new generation of physicians in the modern care of patients with autism.

Patients who visit the Lurie Family Autism Center will be seen by a well-integrated team of doctors attuned to their individual medical and therapeutic needs. The center will have specialists such as gastroenterologists on site, and will operate under a model where interdisciplinary response teams will develop strategies to deal with the highly complex set of issues facing individuals with autism.

Lurie Family Autism Center/LADDERS


Massachusetts Institute of Technology, Cambridge, MA

Principal Investigator: Damon Page, Ph.D.

5-HT2x Receptor as a Candidate Regulator of Social Circuitry and Therapeutic Target for ASD

Do the genes of autism influence the development of brain circuitry involved in social behavior, and if so, then how does this happen? A specific aim of this research is to test the hypothesis that the social behavioral abnormalities present in Pten haploinsufficient mice arise from the dysregulation of 5-HT2cR and from the resulting disruptions in the circuitry underlying social behavior. To test this hypothesis, Dr. Page plans to examine whether a drug that antagonizes 5-HT2cR activity, SB 242084, is capable of modifying social approach behavior in Pten haploinsufficient mice. He will carry out testing using a three-chamber social approach apparatus. In parallel, Dr. Page will use the expression of an activity-regulated gene product (cFos) to test the hypothesis that one or multiple areas of the brain involved in social behavior (prefrontal cortex, nucleus accumbens, amygdala, VTA, parventricular nucleus) are differentially activated upon exposure to social cues in Pten haploinsufficient mice. If data obtained from these experiments are consistent with these hypotheses, Dr. Page will use SB 242084 to test whether antagonism of 5-HT2cR in Pten haploinsufficient mice can normalize patterns of neural activity in response to social cues. If these data are inconsistent with these hypotheses or inconclusive, he will then test the hypothesis that the Oxytocin system may be disrupted in Pten haploinsufficient mice.  The Oxytocin system is normally involved in pro-social and social recognition behaviors, and Dr. Page has pilot data that suggests that expression of Oxytocin is reduced in Pten haploinsufficient mice. He will test whether administration of Oxytocin can modify social approach behavior in Pten haploinsufficient mice, making use of the same approach described for SB 242084.

Laboratory of Mriganka Sur

Massachusetts Institute of Technology, Picower Institute for Learning and Memory, Cambridge, MA
2009- 2010

Principal Investigator: Damon Page, Ph.D.

MAPK3 as a Chr 16p11.2 Autism Candidate Gene

The chromosomal region of 16p11.2 has emerged from genetic screening in humans as a significant susceptibility locus for ASD. This interval contains 25 genes; however, the link between these genes and the symptoms of ASD is not clear. This project seeks to bridge this gap in our understanding by investigating the role of candidate genes from the 16p11.2 region in the development of brain and behavior, using the mouse as a model system. The first candidate gene that Dr. Page will focus on is MAPK3. He selected this gene as a candidate for the following reasons: 1) He had previously found that ERK, the Drosophila homologue of MAPK3, influences regionalized growth in the embryonic brain by controlling proliferation of specific populations of neural stem cells in response to activation of the receptor tyrosine kinase EGFR in these cells (Page, 2003), 2) MAPK3 is known to act in the PTEN/PI3K pathway to influence a variety of cellular processes relevant to growth (Cully et al., 2006). Dr. Page has found that haploinsufficiency for Pten leads to brain overgrowth as well as social behavioral deficits (Page et al., 2009), two phenotypes relevant to ASD. And, 3) MAPK3 acts in several additional pathways that have been implicated in ASD pathogenesis, including: Serotonin (Launay et al., 1996), Oxytocin (Blume et al., 2008) and IL-6/immune signaling (D'Arcangelo et al., 2000). Dr. Page’s studies indicate that Pten intersects with these pathways in the developing brain. Thus, the possibility that MAPK3 might act as an intermediary across these pathways is one worth exploring. As an initial investigation of the function of Mapk3 in ASD-relevant endophenotypes, Dr. Page will make use of assays of social approach behavior and brain growth.

Damon Page

Massachusetts Institute of Technology, Cambridge, MA

Principal Investigator: Deb Roy, Ph.D.

Language Development and Outcome in Children with Autism

Language development in typical children follows specific developmental sequences and demonstrates inherent biases at certain stages. It is not known to what degree language development in children with autism follows the same developmental rules or achieves language comprehension via different routes. This project begins a collaboration between a developmental psycholinguist specializing in typical and atypical language development, Letitia Naigles, and a cognitive scientist, Deb Roy. The project will build on a parent NIH-funded project led by Naigles that investigates whether the processes of language acquisition and development in autism are similar to that of typically developing children, and what language comprehension measures reveal about the processes and products of language acquisition in children with autism. A "Speechome Recorder", developed by the Roy's team, will be employed to collect ecologically valid, dense samples of child speech and visual context, which will then be analyzed using novel algorithms to reveal children's developing transition from context-boundedness to extendability. Six families already participating in the parent longitudinal study (three with a child with autism, three with a typically developing child) will have a Speechome Recorder installed in one room of their home for up to 12 months. The Speechome Recorder will make daily recordings, 2-3 hours in duration, of the target child's speech, social activity, and physical activity, as well as of the speech and activity of others in the room with the child. Entropy and grammatical analyses of the utterances and their contexts will reveal the extent to which children use their speech about more varied referents, in response to more varied utterances and prompts, and in more varied social situations, across time. These findings will be compared with comprehension measures from the parent project, and will be used as additional early predictors of ASD children's language abilities at ages 6-8.

Deb Roy

Syracuse University, Facilitated Communication Institute, Syracuse, NY

Principal Investigator: Douglas Biklen, Ph.D.

Core Funding for the Facilitated Communication Institute

This grant to the Facilitated Communication (FC) Institute provides core funding for research, demonstration/training, and dissemination of public information about FC. The core activities for 2009-2010 include: Increasing web content on research, policy, and model practices and expanding awareness of advances that are being made in relation to communication and autism; enhancing the visibility of FC and of individuals who can type without physical support or who can speak before and as they type; completing a documentary on independent typing by FC users internationally; convening the fourth annual Summer Institute on FC, augmentative and alternative communication and inclusion strategies; expanding improvements in web presence for the FC Institute; providing updates on new publications, research findings, and training opportunities; providing support to practitioners, policy specialists, and researchers who are introducing content on FC into mainstream policy and literature; increasing the Institute’s training for young students; expanding the participation of FC users in training activities; and deepening the Institute’s training activities. This grant will provide support for an Assistant Professor, one doctoral student to intern at the Institute, and the Assistant Director/Director of Training, and provide funding for basic operational activities.

Click here to read the NLMFF Interview with Dr. Biklen

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