Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG-Preschool Age

NCT ID: NCT05957549

Last Updated: 2025-07-10

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 90 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2022-10-04
• Study Completion Date: 2027-03-01

Brief Summary

Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well. In addition, they experience other auditory symptoms, including being very sensitive to certain sounds as well as being more sensitive than others to loud sounds. The underlying brain activity for sound perception and speech learning in Fragile X is not well understood, especially in the infant, toddler, and preschool years. This study uses behavioral assessment of speech and language abilities, neuroimaging, and hearing tests to understand how speech and hearing are different in children with Fragile X Syndrome.

Detailed Description

Fragile X Syndrome (FXS) is the leading monogenic cause of intellectual disability and autism and is associated with extremely high risk for early delays in speech and language. While early childhood is essential for speech and language development, neural mechanisms for language impairments have been studied entirely in older children and adults with FXS. Therefore, markers for speech and language impairments are unavailable in young children with FXS to predict severity, test potential mechanisms, and track response to intervention. The investigators have identified a hallmark brain-based phenotype of hyperresponsiveness to sounds in adolescents and adults with FXS. This fundamental alteration in cortical responses to sound could influence early language delays, but this phenotype has not been explored in infants or toddlers with FXS.

Specifically, in this study the investigators will use simultaneous EEG/fNIRS during presentation of simple speech, stories, and nonspeech sounds to quantify and localize auditory hypersensitivity and neural differentiation in 30 preschoolers with FXS. The investigators will assess specificity through comparison with 30 typically developing controls and 30 mental-age matched children with a history of premature birth and language delays.

Conditions

Fragile X Syndrome

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

Speech Sounds

Participants listen to speech sounds while the investigators measure electrical and hemodynamic changes in the brain.

Group Type: EXPERIMENTAL

Speech discrimination

Intervention Type: OTHER

Two different speech sounds are played at the same sound intensity.

Interventions

Speech discrimination

Two different speech sounds are played at the same sound intensity.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Diagnoses of Fragile X Syndrome, Typical Development, or History of Premature Birth
• able to sit independently
• English is spoken at home

Exclusion Criteria

• For all participants: no seizures in the past 6 months
• For typical development group and Fragile X group: not born prior to 32 weeks gestation

• Minimum Eligible Age: 24 Months
• Maximum Eligible Age: 4 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Children's Hospital Medical Center, Cincinnati

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Cincinnati Children'S Hospital

Cincinnati, Ohio, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Elizabeth Smith, PhD

Role: CONTACT

elizabeth.smith3@cchmc.org

5135171383

Craig Erickson, MD

Role: CONTACT

craig.erickson@cchmc.org

5136366553

Facility Contacts

Elizabeth Smith, PhD

Role: primary

elizabeth.smith3@cchmc.org

513-517-1383

Other Identifiers

K23HD109375

Identifier Type: NIH

Identifier Source: secondary_id

View Link

K23HD109375 Aim 1

Identifier Type: -

Identifier Source: org_study_id