Genetics of Language Development
Early detection of Fragile X is crucial to a child’s development, believes Debra Landay, PhD Literacy, Language & Culture student.
“I want to make people more aware that if we know early… that early intervention makes a difference for the child and the family,” Landay said.
According to the National Fragile X Foundation, Fragile X Syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics.
“It is a genetic disorder that resides on the X chromosome and is passed onto male and female children,” Landay said.
FXS can be diagnosed at birth through a simple blood test, but that test is not a mandate.
Typically, the disorder is not diagnosed until much later– between 35 and 37 months for males and an average of 42 months for females. By this point, a child has lost out on learning opportunities, including language and literacy skills that are so critical in the first three years of a child's life, Landay said.
“Kids with Fragile X have a unique language profile different from Autism,” Landay said. “You could start intervention from birth (but) if it is not diagnosed until three-years-old, you’ve lost time.”
Barriers to early detection include a lack of knowledge from doctors and other professionals, something Landay hopes to address with her upcoming research.
“There’s a lot of misunderstanding and a lack of knowledge out there,” Landay said. “I want to hold people accountable because it’s now an easy blood test. We need to change the model.”
Through Fragile X clinics, Landay is planning to set up volunteer focus groups consisting of guardians of children with Fragile X.
“I plan to interview the parents– typically the mothers– to hear their stories to understand why diagnosis is delayed and the impact it has on families,” Landay said. “Although the time of diagnosis hasn’t changed in 10 years, the time in which doctors first respond has decreased."
Landay hopes to have her research collected by Spring 2015.