Treatment of Disruptive Behaviors in Fragile X Syndrome

Disruptive behaviors such as self-injury, aggression, and property destruction pose significant health-related issues to children diagnosed with fragile X syndrome (FXS), impacting the child's quality of life and causing significant distress to families.

Access to appropriate treatment for families is severely limited by factors such as cost of care, shortages of qualified treatment providers, and geographic spread of children with FXS across the country. To address these potential issues, the effectiveness of administering a standardized function-based behavioral treatment for problem behaviors in FXS will be evaluated using telemedicine. The proposed study intervention therefore offers a tremendous step forward in clinical research both in the field of FXS and in the field of developmental disabilities more broadly, and thus will have a significant impact on public health.

Study Overview

• Status: Completed
• Conditions: Fragile X Syndrome; Disruptive Behavior
• Intervention / Treatment: Behavioral: Behavior analytic treatment

• Study Type: Interventional
• Enrollment (Actual): 60
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • California
    • Stanford, California, United States, 94305
      • Department of Psychiatry and Behavioral Sciences

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 years to 10 years (CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

Description

Inclusion Criteria:

1. Child has a confirmed diagnosis of FXS (>200 CGG repeats on the FMR1 gene with evidence of aberrant methylation)
2. Child is male, between the ages of 3-10 years old
3. Child is reported to show self-injury, property destruction and/or aggression on at least a daily basis
4. The caregiver agrees to keep any therapies that the child receives (i.e., medications or other treatments) as stable as possible throughout involvement in the study
5. The family has a high-speed internet connection at home or lives in an area with 4G network coverage
6. Availability for one-hour daily telemedicine treatment sessions
7. Availability for in-home assessment totaling 8 hours across two consecutive days

Exclusion Criteria:

1. The child or caregiver has significant sensory impairments (e.g., blindness or deafness)
2. Non-English speaking
3. The child receives Applied Behavior Analysis services in excess of five hours per week
4. The child has a significant neurological condition (e.g., frequent seizures, brain injury, Tourette's syndrome) that would preclude participation
5. The child or caregiver has significant mobility issues
6. The child is currently participating in another research study that would preclude participation in the study

Study Plan

How is the study designed?

Design Details

• Primary Purpose: TREATMENT
• Allocation: RANDOMIZED
• Interventional Model: PARALLEL
• Masking: NONE

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
EXPERIMENTAL: Treatment	Behavioral: Behavior analytic treatment; Function-based treatment
NO_INTERVENTION: Observation

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change from baseline level of problem behavior at 4, 8, 12 and 16 weeks	Aberrant Behavior Checklist - Community (ABC-C)	0, 4, 8, 12, 16 weeks

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change from baseline level of treatment acceptability at 4, 8, 12 and 16 weeks	Treatment Acceptability Rating Form - Revised (TARF-R)	0, 4, 8, 12, 16 weeks

Collaborators and Investigators

• Sponsor: Stanford University
• Collaborators: The John Merck Fund
• Investigators: Principal Investigator: Scott S Hall, PhD, Stanford University

Publications and helpful links

General Publications

• Hall SS, Rodriguez AB, Jo B, Pollard JS. Long-term follow-up of telehealth-enabled behavioral treatment for challenging behaviors in boys with fragile X syndrome. J Neurodev Disord. 2022 Sep 30;14(1):53. doi: 10.1186/s11689-022-09463-9.
• Hall SS, Monlux KD, Rodriguez AB, Jo B, Pollard JS. Telehealth-enabled behavioral treatment for problem behaviors in boys with fragile X syndrome: a randomized controlled trial. J Neurodev Disord. 2020 Nov 20;12(1):31. doi: 10.1186/s11689-020-09331-4.

Study record dates

Study Major Dates

• Study Start (ACTUAL): July 1, 2016
• Primary Completion (ACTUAL): March 1, 2022
• Study Completion (ACTUAL): March 1, 2022

Study Registration Dates

• First Submitted: April 17, 2018
• First Submitted That Met QC Criteria: April 25, 2018
• First Posted (ACTUAL): April 27, 2018

Study Record Updates

• Last Update Posted (ACTUAL): May 4, 2022
• Last Update Submitted That Met QC Criteria: May 3, 2022
• Last Verified: May 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Behavioral Symptoms; Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Chromosome Disorders; Sex Chromosome Disorders; Syndrome; Problem Behavior; Fragile X Syndrome
• Other Study ID Numbers: 36394

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No