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
Parent Clinical Trial Priorities for Fragile X Syndrome: A Best-Worst Scaling
The aim of this study was to determine parents’ main priorities for clinical trials, at a time when the clinical trial opportunities are on the rise.
AI–Assisted Phenotype Discovery of Fragile X Syndrome in a Population-Based Sample
This study is important for later-diagnosed individuals as it creates successful predictive models that can identify cases five years earlier than clinical diagnosis.
Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation
Data from 8 unique studies speaks to the necessity of early identification of FXS, which leads to earlier, effective medical and non-medical interventions.
Benefit of BPN14770 for Cognition and Daily Function in Fragile X Syndrome
Your summary of the results, including why it matters to you and next steps, from the Dr. Liz Berry-Kravis and Tetra Therapeutics BPN14770 trial results published in Nature Medicine. This was a randomized, double-blind, placebo-controlled, two-period crossover study.
Cortical Gyrification and Its Relationships With Molecular Measures and Cognition in Children With the FMR1 Premutation
Jun Yi Wang and the study team out of the UC Davis MIND Institute are interested in learning more about the premutation carrier condition in relations to brain development and its impact on cognition. These mental processes impact the higher-level functions of the brain including language, learning new things, and making decisions.
Telehealth-Enabled Behavioral Treatment for Problem Behaviors in Boys With Fragile X Syndrome: A Randomized Controlled Trial
Dr. Hall and his team at Stanford University are learning about potential behavioral treatments for problem behaviors. Previous research suggests that problem behaviors, like aggression, self-injury, and property destruction, may occur at higher rates in individuals with FXS.