Year: 2024
Type: article
Study design: Observational Study
Abstract: Purpose: The Fragile X Messenger Ribonucleoprotein-1 ( FMR1 ) premutation (FXpm) is a genetic variant that is common in the general population and is associated with health symptoms and disease in adulthood. However, poor understanding of the clinical phenotype during childhood has hindered the development of clinical practice guidelines for screening and intervention. Given that social communication difficulties have been widely documented in adults with the FXpm and are linked with reduced psychosocial functioning, the present study aimed to characterize the communication profile of the FXpm during early childhood. Method: Eighteen children with the FXpm who were identified through cascade testing (89%) or screening at birth (11%) were compared to 21 matched typically developing children, aged 2–4 years. Participants completed standardized assessments of language (Mullen Scales of Early Learning) and adaptive communication (Vineland Adaptive Behavior Scales-II). Social communication was rated from seminaturalistic interaction samples using the Brief Observation of Social Communication Change. Results: Children with the FXpm showed delayed social communication development, with the magnitude of group differences highlighting social communication as a feature that distinguishes children with the FXpm from their peers ( p = .046, η p 2 = .12). The groups did not differ on the standardized language and adaptive communication measures ( p s > .297, η p 2 s < .03). Conclusions: Early screening and treatment of social communication delays may be key to optimizing outcomes for children with the FXpm. Further research is needed to replicate findings in a larger sample, delineate the trajectory and consequences of social communication difficulties across the life span in the FXpm, and determine the potential epidemiological significance of FMR1 as a mediator of developmental communication differences within the general population.
Authors: Jessica Klusek, Elizabeth Will, Thomas Christensen, Kelly Caravella, Abigail Hogan, Jennifer Sun, Jenna Smith, Amanda J. Fairchild, Jane E. Roberts
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Awards: Emergence, stability, and predictors of anxiety in Fragile X syndrome, Emergence and Stability of Autism in Fragile X Syndrome, G3609899572, Defining the Language Phenotype of the FMR1 Premutation, Clinical Translational Research Center for Neurodevelopmental Disorders, Early Developmental Determinants and Pathways in Down syndrome, Autonomic and Sensory Dysfunctions in FMR1 Conditions: Development, Mechanisms and Consequences, Aging Symptom Trajectories in Mother Carriers of the FMR1 Premutation
OpenAlex ID: W4399767239