 |
|
Single Gene Disorders and Disability (SGDD) |
- Fragile X family needs
assessment
CDC is working with researchers at Research Triangle
Institute (RTI) to create a national survey that will identify
the needs of families with FXS. This survey will look at how
fragile X affects families, including medical and nutritional
needs of children with FXS, use of educational services, and the
cost of raising a child with FXS. Feedback from parent groups
and researchers in the fragile X community is being considered
in the survey development process to ensure the survey will
address the most pressing needs. The results from this survey
will help researchers find ways to better serve families with
FXS and improve treatment practices.
Dr. Don Bailey and his colleagues at
Research Triangle Institute (RTI)
International in North Carolina are leading this project.
[Return to CDC Priorities]
- Fragile X syndrome cascade testing and genetic counseling
protocols
When a child is diagnosed with FXS, other family members are at risk
of carrying a premutation. Cascade testing involves identifying and
testing other family members at risk for having children with FXS.
Currently, there are guidelines to help physicians and genetic
counselors identify which family members should be offered testing.
Since these guidelines were written, scientists have learned much
more about premutation carriers. It is now known that premutation
carriers can have symptoms of their own, including nervous
system disorders, infertility, and problems with learning and
behavior (What health problems can affect people who have a fragile X premutation?). This means that families at risk for FXS can now be
identified through males with nervous system disorders or females
with fertility problems. Because this new information is available,
the guidelines are being updated. Also, educational materials for
specialists (adult neurologists, endocrinologists, obstetricians,
and gynecologists) who might see these families are being developed.
Dr. Randi Hagerman and her colleagues at the M.I.N.D. (Medical
Investigation of Neurodevelopmental Disorders) Institute at the University of
California, Davis lead this project.
M.I.N.D. Institute Press Release on Summary Meeting for Fragile
X Syndrome Protocols
[Return to CDC Priorities]
- Development of a newborn screening test for fragile X
syndrome
Children with FXS are usually diagnosed between 3
and 5 years of age. Frequently, parents of children with FXS say
they wish their child had been diagnosed earlier. One possible
way to make sure that all children with FXS are diagnosed early
is to test all newborns. This is called newborn screening. Most
babies born in the United States are already tested for some
conditions at birth, but they are not tested for FXS. The tests
that are available to diagnose FXS are too expensive to use on
all babies. They also find premutations, which do not affect
infants or young children, but are linked to some conditions
that might appear later in life. Thus, there are financial and
ethical concerns about using the current tests for newborn
screening. The purpose of this project is to develop a new
testing method that is less expensive and does not find
premutations. In addition, researchers will use the new testing
method on thousands of anonymous newborn screening cards to find
out how common FXS is in different racial and ethnic groups.
Dr. Stephen T. Warren and his colleagues at
Emory University
Department of Human Genetics are doing this
project.
[Return to CDC Priorities]
- Single gene resource center – fragile X syndrome
Quality information about single gene disorders is often difficult
to find. The amount and quality of information varies widely for the
different types of single gene disorders. CDC is working with the
Genetic Alliance and other partners
to develop a website that contains quality information on single
gene disorders. The website is called the
Access to Credible
Genetics (ATCG) Resources Network. The ATCG network will contain information about the causes, diagnoses,
and treatments of single gene disorders starting with
Duchenne/Becker muscular dystrophy (DBMD) and FXS. The network
will also help people learn to decide what information is correct
and where to find it.
[Return to CDC Priorities]
[Return to top of page]
Date: August 28, 2006
Content source: National Center on Birth Defects and Developmental
Disabilities
|
|
|
