Authors: Eleanor Eckert, Kelli Dominick, Ernest Pedapati, Logan Wink, Rebecca Shaffer, Howard Andrews, TseHwei Choo, Chen Chen, Walter E. Kaufmann, Nicole Tartaglia, Elizabeth Berry-Kravis, and Craig Erickson
Summary
Behavioral dysregulation, or the impairment of behavioral processes, is common in FXS. A regularly cited group of behaviors in individuals with FXS, particularly males, is irritability, agitation, aggression, and self-injurious (IAAS) behaviors. These behaviors can put a strain on both the individual and their caregiver’s quality of life and there is little information about how to manage these behaviors with medication. This publication in the Journal of Autism and Developmental Disorders presented information from a FORWARD dataset involving 415 individuals with IAAS behaviors. The study describes the psychopharmacologic management of IAAS and examines the characteristics of individuals that are treated with drug therapy for IASS.
Findings showed that among the individuals with FXS that were exhibiting IAAS, those receiving drug treatment were more likely to be older males with significant intellectual disability. The individuals receiving drug treatment were also more likely to have comorbid autism, anxiety, hyperarousal, and social impairment. The medications most used in this population are antipsychotic medications, particularly aripiprazole and risperidone. Both aripiprazole and risperidone are FDA-approved for treating irritability associated with ASD. Individuals were also prescribed drugs outside of antipsychotic medications, including selective serotonin reuptake inhibitors (SSRIs), stimulants, non-SSRI antidepressants, alpha-agonists, mood-stabilizers, and anxiolytics. Most individuals (63%) did not experience side effects from their drug treatment.
Why This Is Important
This study contributes to the limited understanding of psychopharmacologic management of IAAS in FXS and will help guide future treatment.
What Are the Next Steps
A deeper analysis of long-term drug treatment of various target symptoms, more specific evaluation of each behavior within the IAAS symptom category, and more extensive analysis of drug tolerability over time.
Drs. Berry-Kravis and Erickson presented on this topic using the FORWARD data in her presentation, “Medications for Fragile X: Anxiety, Irritable Behaviors, Aggression,” during the Fragile X Across the Lifespan event in the 17th NFXF International Fragile X Conference Virtual Series, summer 2020.
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.