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Research Funding for 2003
Table of Contents
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Research Summary: National Fragile X Foundation Clinical Grant
Allyn McConkie-Rosell, Ph.D., CGC - $30,000
Duke University, Duke Children's Hospital & Health Center: Medical Genetics Program
2003
What about adolescence? Living with genetic risk
Research Summary: National Fragile X Foundation Clinical Grant
Don Bailey, Ph.D. - $30,000
FPG Child Development Institute, University of North Carolina at Chapel Hill
Designing and Evaluating a Model Early Intervention Program for Young Children with FXS and Their Families
Summer Student Fellowships
Research Summary: National Fragile X Foundation Clinical Grant
Allyn McConkie-Rosell, Ph.D., CGC - $30,000
Duke University, Duke Children's Hospital & Health Center: Medical Genetics Program
What about adolescence? Living with genetic risk
Genetic counseling sessions with parents concerned about genetic
testing of their children are typically framed by a bioethics medical model. A bioethics medical model requires an assessment of risk versus benefits with a focus on individual autonomy. Potential risks of testing include: harm to
self-concept through feeling unworthy, being unable to integrate with peers, and not feeling desirable for dating or marriage; changed perceptions of the child by parents or family; stigmatization; discrimination; and the loss of
confidentiality, autonomous decision making, and the right not to know. Possible benefits include: helping the child adjust to the information before she needs to make choices about marriage and reproduction, enhancing
communication, and resolving parental concerns about carrier status. Recently several authors have proposed that the autonomy of an adolescent may be enhanced through choice and knowledge gained by learning genetic status. Because
of the concern that genetic knowledge may be harmful, genetic testing is recommended only when there is a clear benefit to the child.
Our own research supports a bioethics medical model; but we have also found that parents
want an active voice in the decision making about when to tell and test their children. The "Points to consider" genetic testing guidelines for children states that children are part of family networks and stresses the
importance of developing a dialogue with parents and their children about testing with the primary goal to promote the well being of the. Because the focus in a bioethics medical model is on the rights of the individual, genetic
counseling strategies based solely on this model do not typically include this important family perspective. Lindemann Nelson and Lindemann Nelson (1995) have developed an Ethics of Medicine and Family model that may be useful in
facilitating communication between health care professionals and families faced with this complex problem. This issue is complex because children are members of their families and will be intimately affected by how their families
cope with genetic information. This model acknowledges the special claim that family members have on each other and that this moral claim affects personal rights as well as responsibilities. Inclusion of a family ethics approach in
genetic counseling for genetic testing in minors would require exploration of the family network and partnering with the family to achieve the common goal of the positive adaptation of the child to the genetic information. Clearly,
genetic counseling interventions utilizing a family ethics model require knowledge of the parent/child interaction concerning genetic risk information. Little is known about how parents choose to address this concern for their own
families and even less about the relationship between the parental approach and children's adaptation.
The purpose of this study is to describe the relationship among adolescent girls' self-concept, coping
behaviors, and adjustment associated with knowledge of genetic risk of an X-linked disorder, fragile X. We will also describe the strategies parents use to help their daughters cope with genetic risk information.
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Research Summary: National Fragile X Foundation Clinical Grant
Don Bailey, Ph.D. - $30,000
FPG Child Development Institute, University of North Carolina at Chapel Hill
Designing and Evaluating a Model Early Intervention Program for Young Children with FXS and Their Families
Over the past 30 years,
much research has been conducted on the efficacy of early intervention for children with mental retardation and developmental disabilities, as well as for children at risk for school failure as a result of poverty. Recent
meta-analyses of this research have clearly shown that early intervention can result in a measurable and significant impact on early development. However, none of this research has focused on children with fragile X syndrome, and
the lack of research on the efficacy of early intervention specifically for children with fragile X syndrome stands as a major barrier in ongoing policy debates about the desirability of newborn screening for fragile X syndrome. A
study providing clear evidence that intervention and family support services beginning shortly after birth can significantly alter developmental trajectories would have a major influence on this policy debate, and its implications
would likely extend beyond fragile X syndrome.
Funds from the National Fragile X Foundation will allow us to engage in two critical activities. First, we will conduct extensive interviews with 100 parents of children with
FXS to determine their perceptions of the ideal early intervention treatment package. Second, we will convene a synthesis conference involving 15 experts in both the general field of early intervention and in the FX phenotype
during the early years. Review papers will be prepared prior to this meeting and we will engage in extensive discussions about recommended components of an early intervention model. A book will be published based on the proceedings
of this conference. Combined with our other ongoing efforts, these two activities should provide critical information that will lead to the development of a model early intervention program that represents the field's consensus
about best practice based on what we currently know and also represents family perspectives on what they want and need from early intervention."
This year's awards were made possible through the success of our
Chicago fundraising event, organized by the Canel, Cooper and Fishman families, and through the efforts of Jennifer & Kimball Levine-Silverton of Michigan.
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Summer Student Fellowships
Awards from the National Fragile X Foundation do not just go to established researchers and institutions, they are also made to promising students who have
demonstrated an interest in fragile X syndrome. These $2500 "Summer Fellowship" grants are made possible by the William and Enid Rosen Research Fund, the Harry LeCover Memorial Fund and the National Fragile X Foundation
Research Fund. Recipients in 2003 were:
- Faraz Farzin, UC Davis School of Medicine: Regarding the neurological phenotype in fragile X families in California (LeCover)
- Sara Kover, Johns Hopkins University-Kennedy
Krieger Institute, Baltimore: Development of Math Skills in Girls with the Fragile X Full Mutation (NFXF)
- Tristan Jardini, UC Davis Medical Center-M.I.N.D. Institute: A Controlled Ampakine Study (Rosen)
- Marie
DeBernardis, Stanford University-Behavioral Neurogenetic Research Center: The Relationship Between Social-environmental Events and Behavior in fragile X syndrome (Rosen)
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