We are excited to share journal publications like this one resulting from FORWARD data. There are many more papers currently in development, and the future for Fragile X syndrome research is bright as more data is gathered.
Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome
Restricted repetitive behaviors (RRBs) are a core area of impairment in autism spectrum disorder (ASD), but also affect several other neurodevelopmental disorders including fragile X syndrome (FXS). Current literature has begun to describe the RRB profile in FXS up through adolescence; however, little is known about the subtypes of RRBs in adolescents and adults. Further, literature on the RRB profile of females with FXS is limited.
The present study examines the RRB profile across subtypes and specific items in both males and females with FXS while assessing for differences based on age, ASD diagnosis and the impact of IQ. Participants included 154 individuals with FXS (ages 2 to 50 years old). Results revealed a peak in RRB severity in FXS between 7–12 years for the majority of RRB subscales with the exception of Sensory-Motor behaviors peaking between 2 and 12 years before declining.
Distinct RRB profiles in males and females with FXS emerged in addition to significant overlap among the item and subscale levels of RRBs across gender. Further, an added diagnosis of ASD significantly increased rates of RRBs across all subscale levels, but not necessarily across all items. Lastly, IQ did not solely account for the presence of RRBs in FXS, with Sensory-Motor behaviors being driven by comorbid ASD in males with FXS, and Restricted Interest behaviors being driven by comorbid ASD regardless of gender.
These findings build on the current understanding of RRBs in FXS based on gender and comorbid ASD and lay important groundwork for the development of targeted behavioral and pharmacological treatments.
Reisinger DL, Shaffer RC, Tartaglia N, Berry-Kravis E, Erickson CA. Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome. Brain Sciences. 2020; 10(4):239. https://doi.org/10.3390/brainsci10040239
About the FORWARD Registry & Database
FORWARD is made possible by all the participating families sharing their life experiences for research. By giving families, doctors, scientific researchers, and policymakers an inside look into how Fragile X syndrome presents itself across the human lifespan, you’re involvement is a huge contribution toward more positive health outcomes and better care and services for future generations.
Below are more journal publications resulting from FORWARD data.
more from forward
Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome
FORWARD // Among the different models resulting from the latent class analysis, a 5-class solution yielded the most clinically meaningful pharmacotherapy-independent behavioral subtypes.
Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome
FORWARD // We examined the nature and degree of association between health-related quality of life and established measures of functioning in FXS; 155 parents completed the questionnaires on their child as part of the larger CDC-funded FORWARD study.
Featured image↗ Figure 3. The average percentage of caregivers reporting behaviors to be a moderate to severe problem (a score of 2 or 3) between individuals with FXS and a comorbid diagnosis of ASD and those without a comorbid diagnosis of ASD across the RBS-R items.