Findings

Carolina Fragile X Project

Frank Porter Graham Child Development Institute
University of North Carolina at Chapel Hill

The Carolina Fragile X Project is a multidisciplinary collection of investigators and research projects focusing on young children with fragile X syndrome (FXS) and their families. Established in 1993 at the University of North Carolina at Chapel Hill, the project began as a longitudinal study of very young children with FXS. We have been assessing children on an annual or semi-annual basis in a variety of developmental, behavioral, and academic domains, and have just received funding to continue this study into the late elementary and middle school years. We have also interviewed parents about their experiences with a child with FXS and parents and professionals about what they consider to be important factors to consider in planning services for children.

Based on this work, we have published numerous journal articles and several chapters and more are in preparation. Our currently funded projects include studies to describe family adaptation to fragile X syndrome, examine newborn screening for fragile X syndrome, set up an Internet site that will provide information for parents and professionals summarizing research on developmental and educational issues, and follow up the development and behavior of children and adolescents with fragile X syndrome. Funding for these projects comes from The National Institute on Child Health and Human Development, the Ronald McDonald House Charities, the Fraxa Foundation, the National Fragile X Foundation, and the United States Department of Education.

What have we learned from this work? Some major findings are summarized below.

Early Identification

A big issue is how to promote the early identification of children with FXS. In our sample, typically someone (usually the mother) first became concerned about the child around 8-10 months of age. It is not until about 22-24 months, however, that the typical child is diagnosed as developmentally delayed, followed quickly by entry into early intervention. However, it is still another year before the average child in our sample was diagnosed with FXS (35 months). Parents report significant frustration with the barriers they face in trying to find out what is wrong with their child. Although we are now studying infant and toddler development in order to improve early identification, reliance on behavioral and physical features alone will make early identification very difficult. Considerable discussion is now going on regarding the costs and benefits of various genetic screening options. We are currently gathering data from families, professionals, and policy makers to determine perspectives on genetic screening.

Early Development

Our longitudinal studies show considerable variability in the early development of children with fragile X syndrome, with some progressing much faster than others. The average rate of development is about half that expected of typically developing children, and children show especially significant delays in cognitive and communication skills.

Temperament and Arousal

Children with FXS have been described as anxious and "hyperaroused." Our studies show that boys have a higher activity level, are slower to adapt to new situations, are less persistent, and are more withdrawn than typical children. In a study using heart rate monitors, we found that heart rates of boys with FXS are significantly higher and that their parasympathetic nervous system (i.e., vagal tone) does not function in the same way as in typically developing children, lending possible support to the increased arousal hypothesis. An occupational therapist on our team has recently completed a set of sensory assessments.

Fragile X Syndrome and Autism

About 25% of our sample meet diagnostic criteria for autism. A comparative study of children with autism and children with FXS shows that children with FXS display a relatively flat profile of development, whereas children with autism show a more variable profile, with more serious delays in communication and social skills. Children with both FXS and autism are more severely delayed than children with autism or FXS alone.

Protein Expression

We have been drawing blood and conducting protein analyses to determine how much FMRP (the protein affected by FXS) is expressed by boys with FXS and whether levels of FMRP are associated with level and rate of development. [The cells of some children are mosaic or partially methylated and thus they produce some protein.] Of the 53 children we have tested so far, the range of protein expression is from 1-40% of lymphocytes. We have found that variation in FMRP does account for a small (probably 12-15%) but significant amount of variance in the level, but not rate, of development within a group of children with FMRP and appears to be related to autism status.

Services and Intervention Strategies

Throughout our study, we have collected information about the early intervention or educational services that children receive, as well as parental perceptions of services. Recently, we analyzed and published the results of our study of early intervention for boys under the age of six years. We found that for the children in our study, early intervention started on average at 21.6 months. There was a steady increase in the amount of early intervention across age periods. The intensity of speech-language and occupational therapies remained constant, however, and by the age of 60 months, the number of children receiving physical therapy and the intensity of physical therapy both decreased. Most parents said that they were pleased with the services that their children received but they would have preferred more services. Early interventionists seemed more concerned about behavioral problems in young children than about cognitive delays.

When asked what recommendations they would make to other early interventionists serving young children with FXS, early interventionists made a number of recommendations that might be similar to recommendations for children with behavioral or emotional disorders: having a behavior management plan that addresses aggression to self or others, consistency in behavior management, controlling impulsivity, using consistent reinforcers, preventing escalation of frustration, and providing a consistent routine and structured environment. Some recommendations seemed to focus on challenges related to attention and activity levels: flexibility in demands for sitting still, providing a personal work space, reducing distractions, facilitating attention to tasks, and respecting the need for medication. Other suggestions seemed to address concerns related to autistic-like behaviors or sensory dysfunction: preparing for transitions, using visual cues and picture schedules, including sensory integration occupational therapy, incorporating strategies for children with autism, anticipating schedule changes, and preparing children for new experiences.

In both surveys and interviews, early interventionists cited behavior management and consistency as concerns, suggesting the need for close collaboration with parents. One of the primary recommendations that emerged from our early intervention study was that professionals must work closely with parents to develop and implement consistent behavior management and to identify and implement methods and techniques for teaching skills and concepts across different environments in order to enhance optimal development.

Elementary School Experiences and Performance

At the Los Angeles meeting sponsored by the National Fragile X Foundation, we presented preliminary findings on school performance through second grade. We are finishing up additional elementary school assessments this year and will be preparing final papers this summer, but two preliminary findings are noteworthy:

• By second grade almost all boys in the study are placed in self-contained classrooms that only serve children with disabilities. The percentage of boys with FXS in regular class placements is considerably lower than the national statistics for all children with mental retardation. This means that we have considerable work to do to facilitate the inclusion of children with FXS in regular classrooms.
  
• By age 8, many children still experience challenges in basic functional skills. By this age 64% of the sample could dress themselves independently, 64% could care for their own toileting needs, and 41% could bathe themselves. Only 20% could state their telephone number or home address. More than half could identify selected letters of the alphabet, 59% could count three objects, 29% could write first and last name, and 67% could sight-read at least 10 words. Unfortunately no research exists on educational interventions for children with FXS, and this is where a real emphasis should next be placed.

Acknowledgements
This project could not have been successful without the faithful participation of so many parents and other family members. We are so grateful to them for their time and hope that the information we have collected will ultimately help improve our understanding of the educational needs of children and the support systems needed by families. We are also very appreciative of the agencies and foundations that have supported our work, including the U.S. Department of Education, the National Institutes of Health, Ronald McDonald House Charities, FRAXA Foundation, and the National Fragile X Foundation.

For specific reserach findings see our list of publications.

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