Authors: Jessica Klusek, Jinkuk Hong, Audra Sterling, Elizabeth Berry-Kravis, and Marsha Mailick
At the time of this writing, three Fragile X specialty clinics are collecting supplemental information for FORWARD. They assess and collect longitudinal (over time) data on a group of tests to measure cognitive and behavioral function in the FXS population so that we can specifically understand the course of development in FXS. This is one of the two publications that was a result of those efforts.
Summary
Restricted and repetitive behaviors (RRBs) are a group of behaviors that include repetitive movements, inflexible adherence to routines, ritualistic behavior, restricted interests, and unusual sensory interests. RRBs are a known domain of ASD but also affect individuals with other neurodevelopmental disorders such as FXS. This study took at a look at what RRBs looked like in 154 individuals with FXS, 2–50 years old. Researchers examined the effect that age, ASD diagnosis, and IQ score had on RRB severity.
Unique RRB profiles emerging based on age and gender with increased severity of RRBs based on ASD diagnosis. Findings suggest a peak in RRBs between the ages of 7 and 12, the exception being sensory-motor behaviors, which appear to peak between the ages of 2 and 12 years old. An added diagnosis of ASD significantly increased repetitive behaviors in these individuals. IQ score alone did not seem to influence the presence of RRBs.
Why This Is Important
These findings contribute to specialists understanding of RRBs in FXS. Taking an individual’s diagnoses and sex into account may help clinicians assess and understand their restricted repetitive behaviors to form a treatment plan.
What Are the Next Steps
More research is needed to develop a deeper understanding of the effect IQ, gender, and ASD diagnosis have on the RRB profile of individuals with FXS and inform treatment. Looking at these behaviors over time may help professionals understand changes in RRBs in individuals with FXS over time.
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more research results
Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives
Most individuals with FXS cannot state themselves that they are anxious and self-report is needed in current standardized assessments. The information analyzed in this study will result in the development of a measure where observable and quantifiable data on anxiety in those with FXS can become an outcome measure to be used in future research/trials.
Neuropsychological Changes in FMR1 Premutation Carriers and Onset of FXTAS
This is the first time that Fragile X premutation carriers have been tracked in a longitudinal study. This study provides evidence for early markers of FXTAS that may be helpful in eventually identifying the best candidates for early, preventive intervention.
The International Fragile X Premutation Registry: Building a Resource for Research and Clinical Trial Readiness
The first published publication from the International Fragile X Premutation Registry Advisory Committee. This International Fragile X Premutation Registry is an important first step and can serve as a useful tool for clinicians and researchers in the field.
The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations
Thanks to The European Fragile X Network, FMR1 now stands for fragile X messenger ribonucleoprotein 1, removing the reference to “mental retardation” which has long been outdated in common vernacular.
Optimal Time Lags From Causal Prediction Model Help Stratify and Forecast Nervous System Pathology
Being able to identify and diagnose possible nervous system disorders by detecting gait problems 15 to 20 years before their clinical diagnosis could help advance treatment development and quality of life.
Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in FXTAS
This system could potentially predict FXTAS onset in premutation carriers who are not showing signs of FXTAS on a neurological exam.