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

NCT06560242 | Recruiting

• 2 other identifiers: K23HD109375 Aim2K23HD109375
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 1

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 and toddler 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.

Conditions

Fragile X Syndrome

Outcome Measures

Primary Outcomes (7)

• Change in Mullen Scales of Early Learning

  change in Mullen Scales scores (age-corrected) from baseline on all subscales, including Expressive Language, Receptive Language, FIne Motor, Gross Motor, and Visual Reception. T-Scores from the Mullen Scales of Early Learning (MSEL) have a mean of 50 and a standard deviation of 10. Range=20-80. Higher scores indicate more advanced developmental skills.

  at 12 month, 18 month, and 24 month visits

• Changes in oxygenated and deoxygenated hemoglobin concentration in response to sounds in language regions of the brain

  Relative increase in oxygenated versus deoxygenated hemoglobin for no sounds, low intensity sounds, and medium intensity sounds. Measured via functional Near Infrared Spectroscopy with optodes placed over frontal, temporal, and parietal language regions.

  at 12 month, 18 month, and 24 month visits

• Changes in amplitude of mismatch negativity response during sound discrimination

  Electroencephalography is measured over the scalp while participant listens to speech sounds with infrequent "oddball" stimuli. Amplitude of the P100 for all stimuli as well as amplitude of the mismatch negativity response (frequent minus infrequent response) as well as change in these metrics over development are tracked in all groups.

  at 12 month, 18 month, and 24 month visits

• Changes in hearing thresholds

  Hearing thresholds in dB as assessed using Conditioned Play Audiometry (CPA) or Visual Reinforced Audiometry (VRA) dependent on child age and developmental ability.

  at 12 month, 18 month, and 24 month visits

• Otoacoustic Emissions (OAEs)

  Signals produced by excitation of hair cells in cochlea are measured for a range of frequencies.

  at 12 month, 18 month, and 24 month visits

• Changes in tympanometric pressure profile in the inner ear

  Wide Band Tympanometry is completed to measure variability in tympanometric pressure for left and right ears that may affect hearing profile.

  at 12 month, 18 month, and 24 month visits

• Changes in LENA vocalizations and conversational turns

  LENA is a voice recording system and proprietary program that records a child's home language environment. This recording is then digitally processed to model aspects of the child's own vocalizations and those of others'.

  at 12 month, 18 month, and 24 month visits

Secondary Outcomes (2)

• Sensory profile 2 Auditory Processing subtest

  at 6 month, 12 month, 18 month, and 24 month visits

• Sensory Profile 2 Attentional subtest

  at 6 month, 12 month, 18 month, and 24 month visits

Study Arms (1)

Speech Sounds

EXPERIMENTAL

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

Other: Speech discrimination

Interventions

Speech discrimination OTHER

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

Speech Sounds

Eligibility Criteria

• Age: 6 Months - 26 Months
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• Children's Hospital Medical Center, Cincinnati: lead

Study Sites (1)

Cincinnati Children's Hospital

Cincinnati, Ohio, 45229, United States

RECRUITING

MeSH Terms

Conditions

Fragile X Syndrome

Interventions

Speech Perception

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Heredodegenerative Disorders, Nervous System

Intervention Hierarchy (Ancestors)

Auditory Perception; Vestibulocochlear Physiological Phenomena; Physiological Phenomena

Central Study Contacts

Elizabeth Smith, PhD

CONTACT

5135171383; elizabeth.smith3@cchmc.org

Craig Erickson, MD

CONTACT

5136366553; craig.erickson@cchmc.org

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor of Pediatrics

Study Record Dates

• First Submitted: August 15, 2024
• First Posted: August 19, 2024
• Study Start: October 31, 2022
• Primary Completion (Estimated): August 31, 2026
• Study Completion (Estimated): October 31, 2026
• Last Updated: March 19, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL

Locations

US (1)