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Fragile X Research at FPG
THE CAROLINA FRAGILE X PROJECT
is a group of related studies using a multi-disciplinary approach to understand the impact of fragile X syndrome on individuals and families and the agencies that serve them.
Ongoing Research Projects
- ELSI scale-Up: Large Sample Gene Discovery and Disclosure
Principal Investigator: Don Bailey Co-Investigator: Debra Skinner
- Funded by the National Human Genome Research Institute, 2004 – 2007
- An interdisciplinary group of 15 investigators at UNC-Chapel Hill, in partnership with key external partners, engage in a range of activities to support five specific aims:
- Create multidisciplinary investigations of complex and rapidly emerging ELSI issues
- Establish partnerships with key constituents to facilitate joint awareness of emerging ELSI issues in large sample studies, develop research collaboration, and identify effective mechanisms to disseminate research and influence policy and practice.
- Use three major projects to collect preliminary data in preparation for major research initiatives to be proposed as part of a forthcoming CEER application.
- Design a training component to enable the next generation of ELSI scholars, genome researchers, clinical and social scientists, and researchers in law, bioethics and the humanities to develop independent research programs that address important ELSI problems.
- Fully develop a vision for a Center for Excellence application.
Family
Adaptation to Fragile X Syndrome (FXS)
Center Director: Don Bailey Co-Investigators: Deborah Hatton,
Steve Warren, Debra Skinner, Nancy Brady, Jane Roberts, Steve Reznick,
and Joanne Roberts
- Funded by the National Institute on Child
Health and Human Development, 2003-2008.
- The specific aims of this center project
are to describe and explain variation in the extent to which parents
of children with FXS:
- experience a positive quality of life,
are hopeful about the future, and are protected from adverse
mental health outcomes
- construct environments that promote cognitive,
language, academic, and adaptive development in their children
with FXS
- promote socio-emotional development and
regulate challenging behaviors in their children with FXS.
UNC
Research Registry for Fragile X Syndrome
- Families interested in receiving notification
about research projects recruiting participants with FXS may enroll
in the University of North Carolina's Research Registry. This unique
registry is a database of individuals who have expressed interest
in becoming involved in research projects. It is an organized and
confidential way of linking families and researchers. Visit the
web site for more information and to see the on-line registration
form or call the Research Registry office toll-free (866) 744-7879.
Affiliated Research Projects
-
Carolina
Communication Project
Principal Investigator: Joanne E. Roberts
- Preschool and Early-Elementary-aged Communication
Project
- Funded by Grant
No. R01 HD38819-01A2, National Institute of Child Health and
Human Development of the National Institute of Health, 2001-2006
- This project studies the language development
of preschool and early-elementary aged males. Three groups of
young males will participate: those with FXS, Down syndrome,
or males who are typical in development.
- Elementary-Aged Communication Project
- Funded by Grant No. R03 HD40640-01, National
Institute of Child Health and Human Development of the National
Institute of Health, 2001-2003; and Grant No. 12-FY01-101, The
March of Dimes, 2001-2004
- The goals of this project are to study the
hearing, speech, and language development of young males with
fragile X syndrome and young males who do not have a developmental
disorder. In addition, the factors that affect the speech intelligibility
in these young males will be examined.
Completed Projects
- Longitudinal
Studies of Young Boys with Fragile X Syndrome (FXS)
Principal Investigator: Don Bailey Co-Investigator: Deborah
Hatton
- These studies are the foundation of the CAROLINA
FRAGILE X Project. Researchers have followed the development of
a group of 75 males with fragile X syndrome through the preschool
years and into elementary and middle school.
- Preschool Boys with Fragile X Syndrome
Funded by Grant No. HO23C30081
Office of Special Education Programs, United States Department of
Education, 1993-1998
- Elementary School Aged Boys with Fragile
X Syndrome
Funded by Grant No. HO23C50034, Office of Special Education
Programs, United States Department of Education , 1995-2000
- Middle School Aged Boys with Fragile X Syndrome
Funded by Grant #H324C01007, Office of Special Education Programs,
United States Department of Education, 2001-2006.
- Attention,
Memory, and Executive function in FXS
Principal Investigator: Don Bailey Co-Investigators: Deborah Hatton,
Stephen Hooper, Peter Ornstein, Martie Skinner
- Funded by Grant #1-R01-HD40601-01 National
Institute on Child Health and Human Development, 2001-2006
- The specific aims of this project are to
- determine the profile of neurocognitive
function in FXS
- explore specific profiles within attention,
memory, and executive function domains
- determine the trajectory and stability
of neurocognitive functioning over time
- examine the extent to which variability
in neurocognitive functioning can be accounted for by variability
in FMRP, family factors, autistic behavior, temperament, language,
visual processing, and behavior problems.
- Early
Identification of Infants with FXS
Principal Investigator: Don Bailey
Co-Investigator: Deborah Hatton
- Funded by Grant No. H324C990042, Office of
Special Education Programs, United States Department of Education,
1999-2002
- Based on findings from our original study
that parents and professionals encountered difficulties with
diagnosing fragile X syndrome, the goals of this project are
to:
- describe the early development of
infants,
- identify the earliest indicators
of the syndrome,
- examine issues related to universal
screening of infants, and
- evaluate the usefulness of screening
protocols used by pediatricians and other clinicians for
this disorder.
- Psychophysiological
Measures of Arousal
Principal Investigator:
Jane Roberts
- Funded by FRAXA Foundation, 1998-2000
- This study is an expansion of work from
the Behavioral Regulation Study with an emphasis on classes
of medication and their effects on the physiological and behavioral
responses of boys with FXS.
- Genetic
Status and Level of FMR1 Protein in Young Boys with FXS
Principal Investigator: Don Bailey
Co-Investigators: Deborah Hatton and Annette Taylor
- Funded by Grant No. HO23C30081, Office of
Special Education Programs, United States Department of Education,
1997-1999
- Advances in the field of genetics during
this decade contributed to our understanding of the mechanisms
of the genes and their relationship to individual expression
of FXS. This study examined protein production as a factor
explaining the variability in the effects of fragile X syndrome
on individuals.
- Communication of Preschool
Males with FXS: Profiles, Environmental
Influences, and Intervention Strategies
Principal Investigator: Joanne Roberts Project
Director: Penny Mirrett
- Funded by Grant No. H133G960186, National
Institute on Disability and Rehabilitation Research, 1996-1999
- This study included many of the preschool
boys from the longitudinal study and provided a systematic
and detailed examination of the language development and speech
characteristics of young males with FXS in a longitudinal
design.
- Behavioral Regulation in
Young Males with Fragile X Syndrome
Principal Investigator: Don Bailey
and Jane Roberts
- Funded by Grant No. H023B70035, Office of
Special Education Programs, United States Department of Education,
1997-1998
- This study investigated the relationship
between physiological and behavioral variables in young males
with fragile X syndrome. Results should assist educators,
therapists, families, physicians, and psychologists in making
valid diagnoses and in developing effective interventions
for these children. The Psychophysiological
Measures of Arousal project represents a continuation
of this study. Data collection is ongoing and results are
as yet unavailable.
- Young Girls with FXS
Principal Investigator: Deborah Hatton
Co-Investigator: Renee Clark
- Funded by Frank Porter Graham Child Development
Center Small Grant Award, University of North Carolina, 1996
- Similar in design to the longitudinal
study of boys, this study of preschool aged girls was initiated
at the request of parents of daughters affected by FXS in
order to provide more information about the effects of fragile
X syndrome on young females.
- Visual Acuity and Ocular
Status
Principal Investigator: Deborah Hatton
Co-Investigators: Edward Buckley and Ave Lachiewicz
- Funded by Frank Porter Graham Child Development
Center Small Grant Award, University of North Carolina, 1995
- This collaborative study with researchers
at Duke University was the first prospective study of the
vision of boys with fragile X syndrome. Over 40 participants
were seen either at the Duke Pediatric Eye Clinic or in 3
satellite clinics for this study.
Collaborative Projects
- Autistic Behavior and
FXS
Principal Investigators: Don Bailey, Gary Mesibov
- There are similarities noted in behavioral
features of some children with fragile X to children diagnosed
with autism. In fact, 15-25 % of children with FXS meet the diagnostic
criterion for autism. This study compared the development of a
group of boys with FXS to a matched sample of boys with autism.
- Neuropsychological Functioning
and Sensory Processing
Principal Investigator: Don Bailey Co-Investigators: Grace Baranek,
Deborah Hatton, and Stephen Hooper
- This study examined the cognitive profile
(attention, short and long term memory, IQ) of boys with FXS.
A thorough sensory processing evaluation accompanied each cognitive
evaluation to examine the relationship between cognitive performance
and sensory functioning.
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