Social Communication Delay in an Unbiased Sample of Preschoolers With the FMR1 Premutation
Jessica Klusek1, Elizabeth Will1, Thomas Christensen1
1Department of Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, Columbia.
Insights
Children with the Fragile X Messenger Ribonucleoprotein-1 (FMR1) premutation show delays in social communication development during early childhood. Early intervention for these social communication challenges is crucial for optimizing outcomes in affected children.
Area of Science:
- Genetics
- Developmental Pediatrics
- Communication Sciences
Background:
- The Fragile X Messenger Ribonucleoprotein-1 (FMR1) premutation (FXpm) is a common genetic variant associated with adult health issues.
- Limited understanding of childhood FXpm phenotypes hinders clinical guidelines for screening and intervention.
- Social communication deficits are documented in adults with FXpm, impacting psychosocial functioning.
Purpose of the Study:
- To characterize the communication profile of children with the FMR1 premutation during early childhood.
- To identify specific communication challenges in young children carrying the FXpm.
- To inform early screening and intervention strategies for FXpm.
Main Methods:
- Compared 18 children with FXpm (aged 2-4 years) to 21 typically developing peers.
- Utilized standardized language (Mullen Scales) and adaptive communication (Vineland-II) assessments.
- Rated social communication from interaction samples using the Brief Observation of Social Communication Change.
Main Results:
- Children with FXpm exhibited delayed social communication development (p = .046, ηp² = .12).
- No significant differences were found between groups in standardized language or adaptive communication measures (p > .297).
- Social communication emerged as a distinguishing feature for children with FXpm.
Conclusions:
- Early screening and treatment of social communication delays are vital for optimizing outcomes in children with FXpm.
- Further research is needed to confirm findings in larger cohorts.
- Investigating FMR1's role in developmental communication differences is warranted.
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, ηp2 = .12). The groups did not differ on the standardized language and adaptive communication measures (ps > .297, ηp2s < .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.
