Study explores impact of Down, Fragile X syndromes

An ongoing research project is tracking the communication challenges posed by Down and fragile X syndromes, the two most common genetic causes of mental retardation.

Additional families are being sought to participate in the project. Leonard Abbeduto, professor of educational psychology, is directing the project at the UW–Madison Waisman Center, one of the world’s leading research centers devoted to development and developmental disabilities.

Now in its fourth year, the project provides insights on common language and communication problems in adolescents with Down and fragile X syndromes. The goal is to understand the extent, causes and consequences of language and communication problems in the two syndromes. The findings will be a guide for better learning and intervention strategies for both parents and teachers. Abbeduto says little current information helps base sound approaches.

While there similarities between the two, the research is also helping reveal how fragile X and Down syndrome – often treated the same in educational environments – often present different learning and social challenges in the classroom and at home.

“What we hope to do is to more fully describe the profile of strengths and challenges for these adolescents and make some recommendations for change in education,” Abbeduto says. “Especially for children with fragile X syndrome, many professionals don’t know what to expect.”

Down syndrome, occurring once in every 900 children, is a good deal more common than fragile X, which occurs once in every 4,000 males and 8,000 females.

This Sunday, July 22, is National Fragile X Awareness Day, which Abbeduto hopes will begin to make the syndrome less of a mystery to the public.

Fragile X is a hereditary condition that results from a single gene on the X chromosome, explaining its greater incidence in males. It differs from Down syndrome, which results from an extra chromosome. Both syndromes are associated with a range of physical, cognitive and behavioral characteristics.

One major difference between the two syndromes is behavioral. Children with fragile X often have a host of behavior problems, including attention deficit disorder, social anxiety and hyperactivity. The care that these maladaptive behaviors require tends to place greater stress on parents and educators.

The project, supported by the National Institutes of Health and the UW–Madison Graduate School, has led to some early findings with educational implications, including:

• While both groups of adolescents have learning impairments, those with fragile X have language skills as a relative strength, and often respond better to spoken-language based learning than do individuals with Down syndrome.
• Both groups find communication challenging, but for different reasons. Attention difficulties interfere with communication for those with fragile X, while speech and expressive language limitations have a greater impact for adolescents with Down syndrome. Grammar and sentence structure may need to be areas of intensive intervention for those with Down syndrome.
• Children with Down and fragile X syndromes have difficulty with challenges related to understanding other people’s thoughts and feelings, but this is especially challenging for those with Down syndrome. For both, educators should look for ways to emphasize what other people might know, think or feel in social situations.
• Abbeduto’s study has included more than 120 families to date, and an additional 30 to 40 families are sought for the next two years of the project. As the primary experts on their children, parents are a key component of the questionnaires and assessments done by the research team.

For more information about participating in the study, contact Abbeduto, (608) 263-1656.