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| Single Gene
Disorders and Disability (SGDD) |
CDC is working with a number of
organizations and researchers on several projects to improve
services for people who have DBMD and their families. These projects
include raising awareness about DBMD and using surveys to gather
more information about DBMD.
Education and Communication
Projects
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Single Gene Resource Network
CDC is working with the Genetic Alliance and other partners to
develop a resource center for information about single gene
disorders. The Access to Credible Genetics Resources Network,
known as the
ATCG Resources Network, has been established, and
information about DBMD is being gathered and evaluated to help
ensure that people get reliable information. The project was
awarded to the Genetic Alliance in September 2005.
Contact for the Single Gene
Resources Network:
Sharon F. Terry, MA, LHD
President and CEO, Genetic Alliance
4301 Connecticut Avenue, N.W.
Suite 404
Washington, DC 20008
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The Parent Project Muscular
Dystrophy (PPMD) Outreach Program
CDC is working with PPMD on several activities to raise
awareness about DBMD. Educational materials are being developed
for different groups of people, such as healthcare providers,
individuals who have DBMD and their families, and communities.
An educational program on DMD was developed for
BrainPOP, a website for
kids, which features short animated movies. Additional materials
will be developed with practical information about educational
programs and physical activities.
Principle investigator for the outreach program:
Pat Furlong, Founding President and CEO
Parent Project Muscular Dystrophy
Executive Office
1012 North University Boulevard
Middletown, OH 45042
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Developing
Care
Considerations for DMD
Currently, there are no comprehensive care considerations to
guide disease management for people who have DMD. CDC is working
with experts from the Muscular Dystrophy Association (MDA),
Parent Project Muscular Dystrophy (PPMD), and academic
institutions to develop comprehensive care considerations. The
goal of developing comprehensive care considerations is to
enhance the well-being of people who have DMD by promoting the
best medical, functional, and psychosocial outcomes.
Family Needs Assessment Projects
CDC is sponsoring two projects to
identify the service needs of families with DBMD. The results of
these projects will help health departments and health care
providers understand the needs of families with DBMD so the
necessary resources can be identified.
 CDC is working with researchers
at the Children’s National Medical Center in Washington, D.C.,
on a survey of parents of children with DMD in the United States
and Puerto Rico. The researchers plan to ask parents of children
with DMD how they have adapted to having a child with DMD, what
services they use, what services they need, what keeps them from
getting services, and what they think about screening newborns
for DMD. The survey will include a large number of families from
varied backgrounds, and the results will help state health
departments determine how to improve services for families with
DMD.
Contact for NIFD:
Erik Henricson, MPH
Children’s Hospital
Center for Genetic Medicine Research
111 Michigan Avenue, N.W.
Washington, DC 20010
CDC is working with researchers
at the University of Iowa to identify the needs of families with
DMD and childhood-onset Becker muscular dystrophy (BMD). The
researchers are talking with families in Iowa to identify and
prioritize the needs of patients and families during different
times in the disease process, identify factors that make it
difficult to get services and resources, determine how the
diagnosis of DMD affects the patient and his immediate family,
and determine what family members think about screening newborns
for DMD.
Contacts for NFPMD:
Paul Romitti, PhD
The University of Iowa
C21-E GH, 200 Hawkins Drive
Iowa City, IA 52242
Kathy Mathews, MD
The University of Iowa
College of Medicine
Department of Pediatrics
200 Hawkins Drive
Iowa City, IA 52242
Both the NIFD and NFPMD projects
are looking at the needs of families with DBMD and ways to improve
services for families. The approach of the NIFD study is to survey a
large number of families. This approach has several advantages. For
example, large studies tend to include people from many different
backgrounds, so the conclusions are more likely to apply to
everyone, instead of just a subset of the population. Also, larger
studies tend to give more reliable results. However, large studies
are limited in the type of data that can be collected. That is, most
survey questions are “yes/no” questions or multiple choice, and
surveys are generally not designed to ask “why” questions. This
approach is called a “quantitative” approach, and usually involves
counting numbers of things in the exact same way.
The NFPMD project uses an interview approach. This approach has the
advantage of allowing families to share any kind of information they
feel is relevant. They are not limited to the specific questions
that are asked. This type of research project is called a
“qualitative” approach, and usually involves stories or
explanations. Using this approach, researchers often find out
important information that they might not have asked about
otherwise. However, because of the time involved in conducting
individual interviews, this approach is usually limited to a smaller
group of people.
Usually, the best information can be collected by a combination of
“quantitative” and “qualitative” approaches, so these two studies
combined should result in a lot of information that can be used by
health departments, clinics, and physicians to ensure that families’
needs are being met.
Because females have two copies of
the X chromosome, they rarely get DBMD, but
females can be DBMD carriers. This happens when one copy
of the X chromosome has the gene change that causes DBMD and the
other copy does not. However, the copy that does not have the
changed gene is usually enough to keep the female from having DBMD.
In spite of this, we now realize that female carriers can have some
symptoms related to DBMD. Researchers are finding that female
carriers of DBMD sometimes develop heart problems later in life.
These heart problems can cause shortness of breath and can make it
hard to do moderate exercise. The chance that a female carrier will
develop heart problems is not known. However, such heart problems
can be serious and life threatening. While there is no cure, a
number of medications and prevention activities are available that
can help reduce the effects of these heart problems.
This project will use a survey to
gather information about what female carriers of DBMD know regarding
the possibility of heart problems later in life and what they are
doing with this knowledge. The findings of this project will help
inform female carriers of DBMD about their heart health, including
issues such as testing and treatments. This project will be carried
out by CDC and Battelle Centers for Public Health Research and
Education.
[Return to Top]
Date: September 1, 2006
Content source: National Center on Birth Defects and Developmental
Disabilities
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