UC Davis researchers receive $5.5 million NIH grant to lead a five-year study on expressive communication development in children with Down syndrome
By JOANNA ABRAHAM— science@theaggie.org
Down syndrome is a genetic condition in which an individual has an extra full or partial copy of chromosome 21. The majority of Down syndrome cases are sporadic, and do not result from an autosomal dominant or recessive pattern of inheritance.
Several behavioral, cognitive and physical symptoms accompany Down syndrome, according to Cleveland Clinic. In terms of cognitive symptoms, an individual with Down syndrome may not start speaking as early as their peers.
More precisely, the development of expressive communication (the “ability to communicate and convey meaning to others”) is often delayed in individuals with Down syndrome. While expressive communication is typically thought of as speech, it also includes “signs, gestures and written language,” according to Liang et al. in an article published by the National Institute of Health (NIH).
Dr. Angela John Thurman, a professor in the Department of Psychiatry and Behavioral Sciences at UC Davis and researcher at the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, commented on linguistic development in individuals with Down syndrome.
“The existence of delays in expressive communication development among children with Down syndrome is well-documented and known; however, less is understood about how symptoms vary between individuals and change over time, especially in terms of ‘communication milestones,’” Thurman said via email.
Thurman further explained what to expect after someone has been diagnosed with Down syndrome.
“Because a comprehensive ‘roadmap’ for the progression of Down syndrome is yet to exist, the current standard of care for individuals with Down syndrome is a ‘one-size fits-all approach,’” Thurman said.
Thurman further clarified the use of the term “roadmap.” While several guides and checklists, which function to assist parents in understanding what to expect from their children at different ages, have been published by the American Speech-Language-Hearing Association and the Centers for Disease Control and Prevention (CDC), families of children with Down syndrome lack an equivalent resource (a roadmap) that “addresses what development looks like for children with Down syndrome.”
This gap is what motivated researchers to launch a five-year study that rigorously examines the development of expressive communication in children with Down syndrome. The study focuses on children between 18 to 54 months, a period which encompasses the transition from “pre-linguistic communication to first words” to eventually “combining words to form sentences,” according to Thurman.
Involving collaborations between researchers from Colorado State University, Cincinnati Children’s Hospital, Massachusetts General Hospital and the University of Pennsylvania, the study has received $5.5 million in funding from the NIH.
The study requires in-person visits at one of the five aforementioned sites, all of which occur in major cities. However, researchers are “closely monitoring recruitment barriers” to maximize the generalizability of the study’s results, according to Thurman. To encourage rural participation, for example, researchers will provide travel reimbursement and other free assistance. These visits will occur every 18 months, during which the child’s expressive communication will be assessed.
From these visits, Thurman explained that researchers will track several markers of expressive communication.
“[They will track] spoken English, […] prelinguistic behaviors (such as gestures and vocalizations), [American Sign Language] ASL, manual signs and the use of augmented and alternative communication devices,” Thurman said.
Between these in-person visits, families will be required to complete 11 virtual check-ins, which entail an interview, questionnaires and a 15-minute recording of the child playing with a parent or guardian.
“We hope to provide answers to the questions families and providers ask most often: What should we expect, and when?” Thurman said.
Written by: Joanna Abraham — science@theaggie.org
