The delays and physical features associated with fragile X syndrome are not readily apparent in young children, making it difficult for parents and professionals to recognize early signs of developmental problems. Often, young girls with fragile X syndrome are not identified until the family history of fragile X becomes known and testing is recommended by a genetic counselor. Nevertheless, females are affected by fragile X syndrome, and early intervention and special education services are frequently needed. With no published research on the development of girls with FXS, parents and professionals face challenges responding to their needs.

The longitudinal study of Young Girls with FXS began in response to requests by parents of boys participating in the longitudinal study to enroll their daughters. Funding from an FPG small grant award allowed this project to begin on a small scale, but participation is limited to siblings or other relatives of boys participating in the CFXP boys until full funding can be obtained.

Project Goals

• Describe the early development of girls with fragile X syndrome
  
• Describe stability and change in the behavioral and temperament characteristics of girls with fragile X syndrome
  
• Describe the strengths of girls with fragile X syndrome
  
• Understand family challenges associated with fragile X syndrome
  
• Identify factors associated with variability in development
  

Methods

Participants


• Twelve girls between the ages of 6 months and 10 years and their families participate in this project.
  

Data Collection


• Project staff visits at home or school for an annual developmental evaluation.
  
• Parents are interviewed and surveyed for information about their daughter’s progress and behavior.
  

Measures


• Battelle Developmental Inventory (BDI)
  
• Mullen Scales of Early Learning
  
• Vineland Adaptive Behavior Scales
  
• ABILITIES Index
  
• Carolina Record of Individual Behavior (CRIB)
  
• Childhood Autism Rating Scale (CARS)
  
• Child Behavior Checklist, Teacher and Parent Versions
  
• Carey Temperament Scales
  
• Rothbart Temperament Scales
  
• Self-Injurious Behavior Questionnaire, Teacher and Parent Versions
  
• Social Skills Rating System, Parent and Teacher Versions
  
• Friendship Survey
  
• Sensory Profile
  
• School Function Assessment
  
• Eye Contact and Stereotypic Behavior Rating
  
• Physical Features Checklist
  

Results

This study is ongoing and results have not been analyzed or published.