Download Annual Update | April 2013 - Massachusetts General Hospital

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Annual Update | April 2013
Lurie Center for Autism Staff
Christopher McDougle, MD, Psychiatry
Director and Nancy Lurie Marks Professor in the Field of Autism at Harvard Medical School
Ann Neumeyer, MD, Neurology
Medical Director
Ann Giauque, MSW
Administrative Director
Julie O’Brien, LMHC, Family
Support Clinician
Carol Oakes, OT
Sara Golas, Research Coordinator
Jen Stornelli, OT, Clinical Supervisor
Timothy Buie, MD, Gastroenterolgy
Karmen Koesterer, Research
Coordinator
Kathleen Tehrany, SLP
Susan Connors, MD, Internal Medicine
Carly Moran, Research Coordinator
Gillian Erhabor, PhD, Psychology
Emily Palfrey, RN, Clinical Services
Nora Friedman, MD, Psychiatry
Ellen Roth, MSW, LICSW,
Family Support Clinician
Lurie Center Harvard Faculty
Margaret Bauman, MD, Neurology
Mass General Distinguished Scholar at the Lurie Center for Autism
Charles Henry, MD, Psychiatry
Karen Kuhlthau, PhD, Director of Advocacy and Policy Program
Katherine Martien, MD,
Neurodevelopmental Pediatrics
Maria Mody, PhD, Neuroscience
Knwaljit Singh, Research Fellow
Julia O’Rourke, PhD, Clinical
Informatics
Alyscia M. Grant, MPA, Practice
Manager
Laura Politte, MD, Psychiatry
Sylvia Lewinstein, MPA, Finance and
Operations Manager
Suzanne Bloomer, MA, Family Support
Clinician
Helana Cohen, Practice Manager
Christine Ferrone, Research Manager
Jessica Helt-Cameron, NP,
Neurodevelopmental Pediatrics
Dorothy Lucci, EdM, CAGS,
Program Director
Genna Lyons, LMFT, MS,
Clinical Assessment Coordinator
Spaulding Rehabilitation
Network Staff
Michelle Alexander, PT, Site Manager
Nicole Bahlin Short, PT
Katelyn Bruno, SLP
Kristina Duggan, SLP, AAC Coordinator
Nikki Holness, Grant Administrator
KristaRose Fothergill, SLP
Sara Kleinfelder, Medical Assistant
Jennifer Francese, SLP
Jennifer Mullet, RN, Research Manger
Tina Leonard, OT
Lurie Center for Autism Faculty
Research Collaborators
Dara Manoach, PhD, Psychiatry
Investigator, Harvard-MGH Martinos Center for Biomedical Imaging
David Gotthelf, PhD, Program Manger
Administrative, Clinical
and Research Staff
Janet Wright, OT
Aspire Staff
Lisa Nowinski, PhD, Psychology
Andrew Zimmerman, MD, Neurology
Theresa Tousignant, SLP
Martha Herbert, MD, PhD, Neurology
Director, Transcend Research
Laboratory, MGH
D. Scott McLeod, PhD,
Executive Director, Aspire
Timothy Yu, MD, Neurology
Stacey Torres, OT
Gretchen Timmel, MEd, Educational
Consultant
Aeri Moon, MD, Gastroenterology
Ronald Thibert, DO, MsPH, Neurology
Ashley Scott, OT
James Gusella, PhD, Director, Center for Human Genetic Research, MGH,
and Bullard Professor of
Neurogenetics in the Department of Genetics, Harvard Medical School
Tal Kenet, PhD, Neurology
Investigator, Harvard-MGH Martinos Center for Biomedical Imaging
Jacob Hooker, PhD, PET Chemistry
Investigator, Harvard-MGH Martinos Center for Biomedical Imaging
William Carlezon, PhD, Psychiatry and Neuroscience, Director,
Behavioral Genetics Laboratory, McLean Hospital
Mission
To advance knowledge of autism spectrum and
related disorders and to rapidly translate discovery
into exceptional clinical care over a lifetime
Our Goals
»» Set the worldwide standard for excellence in
clinical care of individuals over a lifetime
»» Lead initiatives to advocate for policies
supportive of individuals and their families
»» Educate clinicians, researchers, and others
to advance knowledge and understanding
»» Rapidly translate scientific discovery from
research to new clinical treatments
1
from the director
Hello to each of you,
Our first year directing the Lurie Center
for Autism is now complete. I have
never been more energized or happy to
be part of an organization as supportive and motivated to help patients and
families as Massachusetts General Hospital (MGH) and MassGeneral Hospital
for Children (MGHfC).
I’d like to summarize some of the
accomplishments across our mission
of clinical care, research, education
and policy. As you will see in this
report, we have experienced significant
growth in the number of children,
adolescents and particularly adults
with autism spectrum disorders (ASD)
that we serve. In parallel, on the
Spaulding Rehabilitation side of our
clinic, we are providing more occupational, physical, and speech and
language therapy — including an
expanding augmentative and
alternative communication (AAC)
program — than ever before. We continue to provide multidisciplinary care
involving child and adult neurology,
developmental pediatrics and pediatric
gastroenterology, internal medicine,
child and adult psychiatry, neuropsychology and school consultation.
2
Our research program has taken shape.
We have competed successfully for federal funding and, with this, several clinical trials are underway. One example is
the Autism Centers of Excellence (ACE)
award from the National Institutes of
Health, which is a multi-site treatment
network that will investigate the neurohormone oxytocin, given intranasally,
for social and communication impairment in children and adolescents with
autism. We have also transferred each of
our clinical medication treatment trial
grants from Indiana University focused
on improving motor hyperactivity/
inattention and anxiety in children and
adolescents with ASD.
While working to develop more
effective treatments for ASD, our team
is simultaneously focused on identifying
underlying causes. We have established
collaborations with many research
groups in the Boston area, including
those at the Athinoula A. Martinos Center for Biomedical Imaging, the Center
for Human Genetics Research at MGH
and the Behavioral Genetics Laboratory at McLean Hospital. These research
projects are focused on potential causes
of autism in different subgroups, including individuals with an extensive family
history of autoimmune disorders. Brain
imaging studies are also focusing on
individuals with autism ages seven to
35 years old who are minimally verbal
to non-verbal with the goal of evaluating the speech network in their brain
compared to typical control subjects. A
third project area relates to personalized
medicine for autism utilizing induced
pluripotent stem cells and other genetic
techniques. Summaries of each of these
studies are included in this report.
In December, we received an extraordinary philanthropic gift from Robert and
Donna Landreth of Midland, Texas, to
initiate research in neuroinflammation.
Private philanthropy, such as this, will
allow us to take a new exploratory path
which, while not certain, has the potential for a major breakthrough. At this
early stage, the study would not have
attracted large-scale federal funding
because it is considered too risky due to
its innovative and ambitious nature.
In the area of education, many more
students and trainees from medical
schools, psychiatry, neurology and
pediatric residency programs, and
neuropsychology, speech and language
and occupational therapy programs are
Right: Celebrating the establishment of the Nancy Lurie
Marks Professorship in the Field of Autism at Harvard
Medical School are Peter L. Slavin, MD, president of MGH;
Jerrold Rosenbaum, MD, chief, MGH Department of
Psychiatry; Dr. McDougle; Clarence Schutt, PhD, director
and chief scientific officer of the Nancy Lurie Marks Family
Foundation; Nancy Lurie Marks and Jeffrey Flier, MD,
dean, Harvard Medical School
Below: Dr. McDougle works with a patient’s mother.
rotating with us in the clinic. Medical
students from across the country are inquiring about special elective rotations
at the Lurie Center. We are confident in
our ability to contribute to training the
next generation of clinical providers and
researchers for future careers in ASD.
Our programs in public policy at MGH
and Brandeis University are working on
collaborative projects and goals. One
topic that is receiving increasing attention is that of the individual with autism
transitioning from school at age 22 years
into a future filled with multiple areas
of uncertainty. Our family resource
specialists and many of you serving in
volunteer roles are helping us to better
understand the challenges associated
with those in this age group so that we
can implement change and set the standard for the rest of the country to follow.
Space has been a limiting factor in our
desire to grow. However a solution is
in sight, and in January 2014, we will
expand into adjacent space at 1 Maguire
Road in Lexington. This will more than
double our space and allow us to do
much more. In addition, our Aspire program will establish a greater presence at
the clinic, providing children and young
adults more opportunities to develop
social and life skills that will prepare
them for the future.
Another limiting factor to growth has
been finances. As you may or may not
know, providing clinical care for persons
with ASD is a money-losing proposition.
This shouldn’t be the case but patients
with ASD take more time to care for, due
to their complex needs. Each time we
see a patient, we lose money.
In the months ahead we will be announcing a special challenge campaign
to encourage philanthropic investments
in our clinical, research, education and
policy initiatives. Each investment will
leverage additional support for core
clinical operations, ensuring patients
and their families have access to quality
comprehensive care over a lifetime.
You may also reach me via this email
address for any other reason.
We have gained tremendous momentum over the past year. We promise to
work even harder this next year to help
individuals with ASD and their families.
Thank you very much for your ongoing
support.
Sincerely,
Christopher J. McDougle, MD
Director, Lurie Center for Autism
We will need your help — both financial
and in-kind — to continue to make the
strides we have made over the past year.
Stay tuned for more details.
If you have an interest in making a
gift to support our mission or if you have
other ideas, I want you to contact me
directly at [email protected].
3
clinical update
The Lurie Center for Autism is unique in its multidisciplinary approach that integrates the following
clinical services at the Lexington site: neurology,
developmental pediatrics, gastroenterology,
psychiatry, neuropsychology, occupational
therapy, physical therapy, speech pathology,
educational services, and family support services.
Through daily interaction of providers across
disciplines and monthly multidisciplinary case
conferences, Lurie Center providers are able to
offer comprehensive, integrated care rarely
found elsewhere.
“
Our visit to the Lurie Center was
a beacon of hope. After years
of searching, I felt that perhaps
these doctors at the Lurie
Center could provide the
evaluation and care for my
son’s many unexplained and
challenging behaviors that have
baffled so many. Having a place
like the Lurie Center is hopeful
for families who have been
struggling for years.
“
-A grateful mother
4
Ann Neumeyer, MD
Dear friends,
Over the past year, the Lurie Center has
continued to grow both in the number of
patients seen and quality of services
delivered. We are pleased to have
increased the depth of our clinical
staff — our multidisciplinary team now
includes the ten disciplines of neurology,
developmental pediatrics, psychiatry,
gastroenterology, neuropsychology,
adult autism specialist/internist, educational consultation, and speech, physical
and occupational therapies.
In 2012, we recorded an unprecedented
6,071 medical visits. Since the establishment of the Lurie Center in 2009 we have
seen a 145 percent increase in patient
visits. Expediting diagnostic visits for
young children has been a high priority,
and we recruited a new psychologist,
Gillian Erhabor, PhD, during 2012 to help
us see families for initial assessments in a
timely manner.
Additionally, we have worked to improve
access to care for adults with autism
spectrum disorders. This year, there
have been 1,235 adult patient visits, a
300 percent increase over the past three
years, and adults are seen in nearly every
discipline now. Susan Connors, MD, is
leading our efforts to work with community-based primary care practices to
ensure that our adult patients can access
appropriate care close to home.
Treatments with speech, physical and
occupational therapists have also
expanded. There has been a 54 percent
increase in visits for speech-language
services since 2009 and our alternative
and augmentative communication (AAC)
visits comprised 42 percent of all speech
visits in 2012, more than double the
previous year.
I also want to thank the many friends and
families who have volunteered time and
resources to ensure that we provide our
patients with compassionate, high quality care and families with the support
they need at every stage of their journey
with autism. You inspire our continued
commitment to serve the patients and
families of Massachusetts with the best
possible care.
Sincerely,
Ann Neumeyer, MD
Medical Director
Patients come from near and far to access
the unique services of the Lurie Center.
We have seen patients from every county
in Massachusetts as well as from 23
states and many different countries this
past year. I am grateful to our dedicated
clinicians and administrative staff at the
Lurie Center who welcome and care for
all these individuals and their families.
5
clinical update
Update on Speech-Language Clinical Services
Since improving communication skills
is key to helping many patients with
autism spectrum disorders achieve their
full potential, the Lurie Center provides
speech-language services through its
on-site collaboration with the Spaulding
Rehabilitation Network. The Spaulding
Outpatient Center at Lexington specializes in services for children and adults
with autism spectrum disorders, including speech-language, occupational, and
physical therapy.
Over the past year, the Spaulding team
at Lurie has focused on expanding its
Communication and Technology Lab
services. The lab was created to provide
comprehensive evaluations and treatment interventions for children and
young adults needing alternative or
augmentative means of communication
through either low, mid or high tech
communication devices. By combining
ongoing evaluation, treatment, training,
and support for the individual and family, the Spaulding team aims to provide
those with communication challenges a
bridge to interact with life in the richest
way possible.
Over the past year, there have been
multiple new initiatives with speechlanguage services:
»»
The Communication and Technology Lab received a grant from the
Winning Home Foundation to establish a lending library. The library
allows patients and families to test
an AAC device for a period of two
to six weeks to determine the best
device to purchase or for situations
in which insurance will not cover
the cost of a trial.
»»
A grant from the Flutie Foundation
was awarded to provide services
to adults with autism in the
community. Through this grant, the
Spaulding team has begun a project
at three local day programs which
involves introducing a communication system with adults, training
staff on how to use the system,
and providing treatment visits and
follow-ups.
»»
The Communication and Technology Lab established a process for
intake and evaluation for patients
“
6
requiring an AAC evaluation.
A three-part evaluation allows
clinicians to test several different
AAC devices and systems before
making a formal recommendation.
Five follow-up treatment visits are
provided once a device evaluation
has begun in order to educate families and staff and assist with implementation of the new system across
settings. Staff and family members
are encouraged to attend any and
all evaluation/treatment sessions.
Autism is intriguing. Many of these individuals
can communicate in ways other than talking
with their parents. They can even operate a
complex stereo system, but they do not speak
to us. The medical community knows little
about why language and speech are disrupted
in this population.
-Dr. Christopher McDougle
“
A boy uses an AAC device at the Lurie Center.
Speech visits have
increased by 54 percent
since 2009. In 2012,
alternative and
augmentative
communication visits
comprised 42 percent
of speech visits, a
113 percent increase
from 2011.
“
The Lurie Center
is one of the very
few places in the
country that takes
care of adults, even
though there are
more adults with
autism than children
with autism.
“
-Dr. Ann Neumeyer
Dr. Neumeyer examines a patient with autism.
Clinical Revenue Sources
As of 2012, more than 37 percent of the Lurie Center’s clinical operating budget was underwritten by
philanthropic support to allow the center to maintain its commitment to providing clinical care throughout
patients’ entire lives.
Provider
Contracts <1%
Provider
Contracts <1%
Philanthropy
MGH
48%
Educational
Consulting 1%
37%
12%
MGH
16%
Clinical Patient
Services
Clinical Patient
Services
39%
46%
Fiscal Year 2011
Educational
Consulting 1%
Philanthropy
Fiscal Year 2012
7
education
The Lurie Center for Autism is committed to
providing comprehensive education and teaching
to physicians, clinicians, and medical and
graduate students specializing in autism
spectrum and other developmental disabilities.
“
Based on the increased
prevalence of autism, we need
more people to provide care.
If we’re going to educate the
community of providers across
healthcare disciplines, we need
to start with the students.
“
-Dr. Christopher McDougle
Lurie Center Education Initiatives in 2012
During the past year, more than 50 interns, residents,
and medical students visited the Lurie Center from many
institutions including MGH/McLean Hospital psychiatry residency program, MGHfC pediatric residency program, Harvard
Medical School, as well as Tufts University and Yale Schools
of Medicine. Dr. McDougle states, “Based on the increased
prevalence of autism, we need more people to provide care.
If we’re going to educate the community of providers across
healthcare disciplines, we need to start with the students.”
Additionally, fellows in the Child and Adolescent Psychiatry
MGH/McLean Program, Cambridge Hospital and MGH
Neurology completed rotations during the past year.
Recognizing that finding primary care providers who can
expertly serve the medical needs of patients with autism
spectrum disorders can be challenging, the Lurie Center
also focused on educating primary care clinicians in eastern
Massachusetts. Lurie Center physicians have conducted more
than 20 presentations for physician practices and other medical groups throughout Massachusetts over the past year.
In collaboration with Friends of Lurie (FOL), a parent volunteer organization, the Lurie Center continues its commitment
to supporting parents, families, and caregivers through
education. The FOL Roger A. Bauman Parent Lecture Series
offers monthly educational events on a variety of topics
related to autism spectrum disorders for families in the Boston
community. Additionally, the center has developed
evidence-based information on a variety of topics — such as
types of complementary and alternative treatment — for its
website, www.luriecenter.org.
Lurie Center Fellows
Rebecca Grant, PhD
Postdoctoral Fellow in
Neurodevelopmental
Disabilities and Assessment
Rebecca Grant, PhD, was recruited
for the Lurie Center Postdoctoral
Fellowship in Neurodevelopmental Disabilities and Assessment
through a partnership with McLean
Hospital. This one-year fellowship
focuses on neuropsychological assessment of children, adolescents,
and adults with autism spectrum
disorders and other neurodevelopmental disabilities, and it accepts
candidates with a PhD/PsyD in
clinical psychology.
Agnies van Eeghen, MD
Lurie Center Research Fellow
Agnies van Eeghen, MD,
was the first Lurie Center
physician research fellow to
be recruited for the Lexington
based clinic. Dr. van Eeghen is
working on research related to
pharmacological treatment for
interfering behavioral symptoms in patients with tuberous
sclerosis and Williams syndrome. She also works in the
neurofibromatosis clinic.
Susanna Mierau, MD, PhD
Nancy Lurie Marks
Postdoctoral Fellow
Susanna Mierau, MD, PhD, a
Nancy Lurie Marks Postdoctoral Fellow through Harvard
Medical School, was based
in the laboratory of Michela
Fagiolini of Children’s Hospital
and provided clinical care at
the Lurie Center. Dr. Mierau is
investigating the synaptic basis
of cortical function decline
using the MeCP-2 deficient
mouse model.
9
policy
At the Lurie Center for Autism, we are leading
initiatives to advocate for policies supportive of
individuals and their families.
“
“
This is an excellent opportunity
to examine and improve policies
that influence the lives of
children and adults with ASD
and their families.
-Dr. Karen Kuhlthau
Karen Kuhlthau, PhD, New Leader
of the Lurie Policy and Advocacy Program
The analysis, development, and advocacy of policies to address critical issues
in autism facing individuals with ASD,
as well as their families, government,
schools, and community organizations,
is one of the four key components of the
Lurie Center for Autism mission.
During the past year, Karen Kuhlthau,
PhD, associate professor of Pediatrics
at Harvard Medical School and the
Center for Child and Adolescent Health
Research and Policy at the MGHfC has
assumed leadership of the Lurie Center
Policy and Advocacy Program.
Dr. Kuhlthau received her doctorate
degree from the University of Michigan
in sociology where she focused on
demography and health. Dr. Kuhlthau
has a long and successful history of
research and policy analysis related to
understanding the implications of childhood chronic illness for child development and behavior, and for families. Her
work regarding families has documented the substantial effects of long-term
childhood illness on parents’ mental
health and on parents’ ability to remain
productive in the workforce. This work
forms the basis for family support programs to aid households in caring for
children with autism and similar conditions. Dr. Kuhlthau has also pioneered
the development of measures of quality
of life in autism and other conditions,
such as children’s brain tumors. This
work offers much opportunity to
understand the impact of illness on
parents and daily life experiences.
Dr. Kuhlthau expressed her excitement
about her new role as director of the
Lurie Center’s policy initiatives, stating, “This is an excellent opportunity to
examine and improve policies that influence the lives of children and adults
with ASD and their families.”
James Perrin, MD, FAAP, professor of
Pediatrics at Harvard Medical School
and associate chair, MGHfC, stepped
down from his leadership of the Lurie
Policy and Advocacy Program because
of his new responsibilities as president-elect of the American Academy
of Pediatrics (AAP), the preeminent
child health organization. Dr. Perrin
will continue his work to improve the
care and lives of children with various
chronic health conditions, including
autism spectrum disorders. He has
expanded his work in child health policy
through the AAP, with an emphasis on
making the Affordable Care Act work for
children, families, and pediatricians; on
transforming pediatric practice to expand capacity to care for children with
chronic health conditions; and on work
to address both prevention and better
treatments to enhance the lives of children with chronic conditions and their
families. He will continue to work with
Dr. Kuhlthau and the team in autism
policy efforts.
Karen Kuhlthau, PhD, director of the Lurie Center Policy
and Advocacy Program
James Perrin, MD, FAAP, associate chair, MGHfC
11
research
At the Lurie Center for Autism, the goal is
to partner with individuals and families to
incorporate groundbreaking research into
the heart of clinical practice. The integration
of clinical care and clinical research has
expanded over the past two years with the
initiation of clinical treatment protocols.
There are several additional initiatives related
to translational research that were launched over
the past year. These are described in the following pages.
“
Basic science connects with
clinical care at MGH as it does
nowhere else, which makes
MGH the ideal place to move
discoveries from the lab into
the clinical arena as quickly as
possible. This is where genetics
becomes genetic medicine.
“
-Clarence Schutt, PhD
Director and Chief Scientific Officer
Nancy Lurie Marks Family Foundation
8
An Investigation of Minimally
Verbal Individuals with Autism
Impaired communication is a core
feature of autism. Verbal and communicative deficits are highly disabling,
resulting in poor self-expression, frustration, anxiety, aggression, self-injury and
social and/or vocational withdrawal.
Even with years of intervention, about
30 percent of children with autism remain minimally verbal. Little is known
about the neural bases of communication deficits in this group since most
studies of autism have focused on
high-functioning individuals who are
better able to comply with research.
In collaboration with the Martinos
Center, the Lurie Center, under the direction of Dr. McDougle is launching a
comprehensive investigation of patients
with autism who are minimally verbal
to understand the basis of communication deficits and to develop effective
treatment.
Over the past decade, the Martinos
Center has been a pioneer in the development of new neuroimaging techniques that make it possible to map the
functional and structural connectivity
of the human brain without requiring
active participation in a task. Because of
the lack of task demands, studies of the
brain during the ‘resting state’ reduce
requirements of subject compliance
and training, making it feasible to study
the neural basis of speech/language
deficits in minimally verbal individuals
with autism.
The primary goals of this research
are to:
»»
Characterize abnormalities in the
brain networks underlying speech
in minimally verbal individuals with
autism
»»
Characterize network changes
that result from therapeutic
intervention
»»
Identify neural markers that predict
successful therapeutic outcomes
This project is a collaboration between
experts across multiple disciplines
and institutions. Clinical characteri-
zation and therapeutic intervention
will be completed at the Lurie Center
by Spaulding’s Katelyn Bruno, SLP,
along with Mass General’s Maria Mody,
PhD. Magnetoencephalography will
be carried out by Tal Kenet, PhD, Matti
Hamalainen, PhD, and Dara Manoach,
PhD. Frank Guenther, PhD, at the
Martinos Center at Mass General, will
lead the MRI component of the project.
Additional aspects of the project related
to study design, theoretical interpretation, stimulus generation, and MRI
data analysis will be performed at
Dr. Guenther’s Speech Laboratory at
Boston University.
A young patient uses an AAC device at the Lurie Center.
13
research
Neuroinflammation and Autism
Children and adults with autism also
show signs of chronic immune system
activation and inflammation that affect
the brain. Many researchers think that
this chronic inflammation starts before
birth and may be triggered by a mother’s infection, allergies, or autoimmune
responses. The Lurie Center for Autism
is developing parallel preclinical and
clinical studies to investigate maternal
inflammation as a pathogenic mechanism underlying a subtype of autism.
On the preclinical side, researchers
have developed three different models
of maternal inflammation in pregnant
mice. One model is based on bacterial
infection; a second model is based on
viral infection; and the third model is
based on an environmental toxin. The
newly born mice are then characterized
behaviorally with regard to the three
core symptom domains of autism: social
behavior, communication (vocalization
utilizing a sensor designed to capture
the vocalizations of bats), and repetitive
behavior. Thus far, it appears that the
viral-induced model of maternal inflammation produces the most accurate
model of autism in the mice. Next steps
are to begin examining the brains of
the mice with “autism” via electrophysiology, neurochemistry, neuroimaging
and genetics. Additional plans include
administering immune-modulating
drugs in an effort to prevent and reverse
the “symptoms of autism.”
In parallel, researchers are developing
projects to better characterize patients
with autism, as well as their family
members, with respect to autoimmune
disorders. A detailed questionnaire
that will be used to screen first- and
second-degree family members of
persons with autism, ages 18 years
and older, for up to 100 different
“
Dr. McDougle leads a team of researchers.
14
autoimmune disorders, has been
developed. This study is based upon
encouraging pilot data collected
and published previously in independent studies by Drs. Zimmerman
and McDougle.
New tools for examining brain anatomy
and function will also be employed in
these studies. In collaboration with
investigators at the Martinos Center,
PET/MRI scans will be done on adults
with autism, utilizing a new ligand that
binds to activated microglia — a marker
of active neuroinflammation — in the
brain. This will be the first study in the
world to use this ligand with combined
PET/MRI to study autism. The “autistic”
mice will also receive PET scans using
this same ligand. Plans are also being
developed to treat persons with autism
with immune-modulating medications
in an effort to improve their social and
communication limitations.
Our goal is to identify a meaningful subtype of
autism, defined by one or more biomarkers
of pathophysiology, that is predictive of
improvement with a safe, targeted treatment.
We believe that Boston is one of the only
places in the world that has the talent and
resources to make this a reality at this point
-Dr. Christopher McDougle
in time.
“
A body of research points toward a
link between autism and autoimmune
disorders. This research includes independent studies by Dr. McDougle and
Andrew Zimmerman, MD, which found
a higher rate of autoimmune disorders
in relatives of persons with autism compared to a control group. Autoimmune
diseases such as rheumatoid arthritis,
lupus and type 1 diabetes develop when
antibodies that normally fight infectious
organisms instead attack the body itself.
Ronald Thibert, MD, Lurie Center neurologist, works with a young patient.
Personalized Medicine in Autism
The Lurie Center is developing a
partnership with investigators at Mass
General’s Center for Human Genetic
Research, under the direction of James
Gusella, PhD, to use human genetic
information to enhance the clinical care
of people with autism.
of autism and possible treatments, the
PMARG will establish an infrastructure
for translational research in collaboration with the Lurie Center for Autism, as
well as valuable data and reagent repositories, both of which will significantly
facilitate future research.
The heterogeneity of autism spectrum
disorders suggests that optimal treatment will need to be personalized. The
overarching goal of the Personalized
Medicine in Autism Research Program
(PMARG) is to define the underlying
biology leading to the development of
different subtypes of autism through research studies in human patient-derived
and mouse model-derived nerve cells
(neurons). The studies will take advantage of cutting-edge genetic techniques
in conjunction with multi-level neuroscientific analysis.
The aims of the PMARG are to develop a
panel of induced pluripotent stem cells
transformed into nerve cells bearing
genetic variants of interest directly from
patients with autism. These neurons
from individual patients simply require
obtaining a skin cell from a patient.
From this, the neuroscientists can con-
Engagement of the Lurie Center’s
patients in translational research is an
integral component of the project. Investigations will focus on genetic causes
of autism that perturb the function of
genes, based on recent data suggesting
that dysregulation of neuronal gene
expression is a central causative mechanism in autism. In addition to providing
new insights into the potential causes
vert the skin cell to that patient’s individual nerve cell. In parallel with studying how these individual neurons from
patients look, function and connect to
other neurons, neurons in the brains
of novel mouse models of autism will
be analyzed. The ultimate goal of this
research is to identify new compounds
that more specifically target the biologic
abnormalities in the brain, and possibly
other organs, in those with autism.
Research Revenue Sources for Fiscal Year 2012
All other <1%
Industry 1%
Non-profit 9%
Philanthropy
61%
Federal: Other 12%
NIH
17%
15
philanthropic partnerships
Philanthropy is an important component of the
Lurie Center initiatives since, according to a
recent Autism Speaks report, ASD receives less than
five percent of the research funding of many less
prevalent childhood diseases. In addition,
current healthcare reimbursement models
penalize programs such as the Lurie Center
that are labor-intensive for physicians and
psychologists and require regular, lifelong
follow-up care from the providers.
“
The family is committed to
research and to translating
discoveries into treatments for
autism and related disorders.
The foundation’s decision to
partner with Mass General to
create the Lurie Center for
Autism was based on a shared
commitment to sustaining and
advancing autism clinical and
research programs. Our gift is a
building block for future autism
philanthropy at the hospital.
“
-Dick Denning
Trustee and Chief Operating Officer
Nancy Lurie Marks Family Foundation
Dedicated advocates: From left, Bob and Donna Landreth,
Dr. McDougle and Dr. Schutt.
FCCC Organizer, Bob Forlenza with son, Chris.
Staff volunteer at the annual FOL holiday party.
Lurie Center Receives
$10 Million in Gifts
Full Court Charity
Challenge Tops $2 Million
FOL Supports Lurie
Center Through Events
Ever since their grandson Luke “Tug”
Bailey, 11, was diagnosed with autism,
Robert E. (Bob) and Donna Landreth of
Midland, Texas, have sought help and
answers. Over the years, the couple have
become dedicated advocates for autism
research and awareness. As part of this
commitment, they recently donated
$5 million to establish the Robert E.
and Donna Landreth Fund for the Study
of Neuroinflammation in Autism at Mass
General’s Lurie Center for Autism.
The funds will support the work of
Dr. McDougle who is investigating how
inflammation within the brain may be
related to the cause of autism in some
people who have the disorder. “We knew
a solid source of funding was needed so
that Dr. McDougle and his team could
pursue this research without interruption over a five-year period. We thought
this was a way for us to give back and to
do some good,” Bob Landreth said.
The Lurie Center for Autism has been
one of the beneficiaries of the annual
Full Court Charity Challenge. Created
and organized by Bob Forlenza, a Lurie
Center Leadership Council member,
the tournament has raised more than
$2 million since its inception 14 years
ago to support organizations serving
children and adults with autism. At the
Lurie Center, the funds aid the clinic’s
patient and family support initiatives.
Friends of Lurie (FOL) is an organization that includes individuals with
ASD, as well as parents, civic leaders,
professionals, and other volunteers
committed to supporting children,
adolescents and adults affected by
ASD through education, outreach and
community-based fundraising and
social events. The annual holiday party
for Lurie Center patients and families,
sponsored by FOL, is always a highlight
of the year.
The Lurie Center also received a
$5 million challenge grant from Nancy
Lurie Marks and the Nancy Lurie Marks
Family Foundation, which helped establish the center in 2009 through an initial
$29 million donation. This most recent
gift will provide an additional two years
of funding support for the Lurie Center’s
clinical operations.
To learn how you can support the
Lurie Center for Autism, please contact:
Anne MacLean
Massachusetts General Hospital
Development Office
165 Cambridge Street, Suite 600
Boston, MA 02115
Phone: 617-643-0463
Email: [email protected]
To make a gift online visit: www.luriecenter.org
17
Billy enjoys listening to music as he paints and finds music
and the works of other artists as sources of inspiration.
About the Artist
Cover painting by Billy Megargel
William “Billy” Megargel is a 23-year-old artist who uses
an arsenal of tools — artists’ brushes, ball tip whisks, paint
rollers, rubber colanders, bamboo salad utensils and bubble
wrap — to create expressive modern paintings that command
attention with their physical and emotional power.
Billy is also an individual with autism who has lived the past
several years with acute episodic pain. His medical realities
coincide with his diagnosis of autism, one of many people
on the autism spectrum who faces medical challenges as
complex as his social challenges.
The evolution of Billy as an artist inspired his mother, Eve
Megargel, to establish the Voice Colors Communication
Resource Model. The VCCRM educational mission is to
provide people on the autism spectrum opportunities to
learn, develop, and cultivate independent self expression
grounded in social relationships.
With the planned expansion of the Lurie Center in
January 2014, we would like to display the work of other
individuals with autism spectrum disorders throughout
our clinic. Please call us at 781.860.1783 or email us at
[email protected] if you would like to donate art
to be displayed.
»» Lurie Center for Autism | 1 Maguire Road | Lexington, MA | 02421
»» 781-860-1700 | www.luriecenter.org