Examining Social, Emotional, and Cognitive Functioning in People With Fragile X and Down Syndromes

Genetics and Physiology of Social Anxiety in Fragile X

By testing physiological responses to anxiety in people with nervous system developmental disorders, this study will identify specific physiological characteristics associated with response to anxiety treatments.

Study Overview

• Status: Completed
• Conditions: Anxiety Disorders; Child Developmental Disorders, Pervasive

Detailed Description

Anxiety is a common and significant problem for people suffering from disorders of nervous system development, including fragile X syndrome. There are few validated treatments for anxiety in people with these disorders, in part because the biological basis of anxiety in neurodevelopmental disorders has not been clearly described. This study will evaluate the physiological responses of people with fragile X syndrome, Down syndrome, and the fragile X premutation (a mild version of the genes that cause fragile X syndrome) to a variety of sensory, emotional, and social stimuli. By analyzing the data collected for this study, researchers aim to identify physiological characteristics linked to subgroups within the disorders, demonstrate links between physiological responses and behavioral or psychiatric symptoms, and measure physiological changes in people receiving treatment for their disorders.

Participation in this study will include one testing session, which will take between 3 and 3.5 hours. Participants who receive treatment for their anxiety may be asked to complete this testing a second time, after their treatment. During the testing session, sensors will be placed on participants' skin in several locations to measure heart rate, sweat response, and eye-blinks. Participants will then be asked to respond to multiple stimuli: sounds, lights, smells, pictures that elicit different types of emotions, an interaction with an unfamiliar person, and specialized toys. In addition, participants will undergo blood testing and have several samples of their saliva collected on the day of the testing session. Participants will also be asked to collect additional saliva samples at home three times a day on 4 different days. Child participants and their parents may also be asked to complete questionnaires and interviews about behavioral and emotional problems.

• Study Type: Observational
• Enrollment (Actual): 511

Contacts and Locations

Study Locations

• United States
  • California
    • Sacramento, California, United States, 95817
      • M.I.N.D. Institute, University of California, Davis

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 5 years to 25 years (Child, Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Individuals with fragile X syndrome, Down syndrome, the fragile X premutation, and normal development

Description

Inclusion Criteria:

• Fragile X premutation or fragile X syndrome, measured by DNA testing; Down syndrome, confirmed by chromosomal analysis; or normally developing control
• Normal hearing

Study Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort
1; Males and females with fragile X syndrome, ages 5 to 25 years old
2; Males and females with the FMR1 premutation, ages 5 to 25 year old
3; Males and females with Down syndrome, ages 5 to 25 years old
4; Males and females with normal development, ages 5 to 25 years old

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Fear-potentiated startle reflex	1 year

Collaborators and Investigators

• Sponsor: University of California, Davis
• Collaborators: National Institute of Mental Health (NIMH)

Publications and helpful links

Helpful Links

• Click here for more information about the M.I.N.D. Institute

Study record dates

Study Major Dates

• Study Start: October 1, 2005
• Primary Completion (Actual): September 1, 2010
• Study Completion (Actual): September 1, 2010

Study Registration Dates

• First Submitted: April 9, 2009
• First Submitted That Met QC Criteria: April 9, 2009
• First Posted (Estimate): April 10, 2009

Study Record Updates

• Last Update Posted (Actual): May 30, 2017
• Last Update Submitted That Met QC Criteria: May 25, 2017
• Last Verified: May 1, 2017

More Information

Terms related to this study

• Keywords: Down Syndrome; Fragile X Syndrome; Fragile X Premutation
• Additional Relevant MeSH Terms: Mental Disorders; Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Neurodevelopmental Disorders; Child Development Disorders, Pervasive; Abnormalities, Multiple; Chromosome Disorders; Disease; Anxiety Disorders; Autism Spectrum Disorder; Down Syndrome; Developmental Disabilities
• Other Study ID Numbers: 200210645; DDTR B2-MBA (Other Grant/Funding Number: National Institute of Mental Health); K23MH077554 (U.S. NIH Grant/Contract)