Infants with FXS

This is a newly funded study that will allow us to study children with fragile X syndrome beginning in infancy. The major purpose of the study is to increase our understanding about the early development of children with fragile X. Because the disorder is not obvious at birth, most children are not identified as having fragile X until age three or older, and usually after frustrating interactions between parents and professionals over the diagnosis. We hope that this study will improve early identification practices and guide plans for early intervention.

Describe the development of infants with fragile X syndrome during the first 18 months of life
Document and review current practices and guidelines related to the decision to refer a child for genetic testing
Develop and test the usefulness of a set of proposed guidelines for deciding whether to refer a child for genetic testing for FXS
Work with parents, professionals, and policy makers to review the costs and benefits of universal genetic screening versus continued reliance on behavioral observation

Methods

Participants

We enrolled infants who have been diagnosed with fragile X syndrome prenatally, at birth, or soon after birth. Most of the infants have been identified because of a family history of fragile X syndrome. Currently, we have 18 infants and families in our study.

Data Collection

Each infant was assessed at 9, 12, 18, and 24 months by a member of the CFXP staff. For the 9 and 18-month assessment, staff members visited the family at home. For the 12 month visit, families travel to the University of North Carolina in Chapel Hill. For the 24-month assessment, we conducted a phone interview and collected rating scales from families. Each infant received an assessment battery that included measures designed to tap cognitive, communication, sensorimotor, and social abilities, as well as assessments of behavior, physiology, and sensory processing. There was a memory task that was presented only during the university visits. Various measures include the Mullen Scales of Early Learning, the Lab-TAB observational temperament assessment, the Test of Sensory Function in Infants, and the Communication and Symbolic Behavior Scales.

Data collection to address other goals in the study will begin during a later phase of the study.

Measures

Battelle Developmental Inventory (BDI)
Mullen Scales of Early Learning
Vineland Adaptive Behavior Scales
Childhood Autism Rating Scale
Carey and Rothbart Temperament Scales
Laboratory Temperament Assessment Battery (Lab-TAB)
Physical Features
Denver Developmental Screening Test- II
Early Language Milestone Scale -2
Sensory Processing Assessment
Test of Sensory Function

Results

Bailey, D. B. (in press). Newborn screening for fragile X syndrome. Mental Retardation and Developmental Disabilities Research Reveiws.
Bailey, D. B., Roberts, J. E., Mirrett, P. L., & Hatton, D. D. (2001). Identifying infants and toddlers with fragile X syndrome: Issues and recommendations. Infants and Young Children, 14(1), 24-33.
Bailey, D. B., Skinner, D., Hatton, D. D., & Roberts, J. E. (2000). Family experiences and factors associated with diagnosis of fragile X syndrome. Journal of Developmental and Behavioral Pediatrics, 21, 315-321.
Bailey, D. B., Skinner, D., & Sparkman, K. (2003). Discovering fragile X syndrome: Family experiences and perceptions. Pediatrics, 111, 407-416.
Bailey, D. B., Skinner, D., Sparkman, K., Moore, C. A., Olney, R.S., & Crawford, D.C. (2002). Delayed diagnosis of fragile X syndrome -- United States, 1990-1999. Morbidity and Mortality Weekly, 51, 740-742.
Skinner, D., Sparkman, K., & Bailey, D.B. (in press). Screening for fragile X syndrome: Parent attitudes and perspectives. Genetics in Medicine.