Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- Infant
NCT Number: NCT06560242
Status: RECRUITING
Study Type: INTERVENTIONAL
Phases: NA
Conditions: Fragile X Syndrome
Interventions: OTHER: Speech discrimination
Sponsor: Children's Hospital Medical Center, Cincinnati
Sex: ALL
Age: CHILD
Enrollment: 30
Study Design: Allocation: NA|Intervention Model: SINGLE_GROUP|Masking: NONE|Primary Purpose: BASIC_SCIENCE
Start Date: 2022-10-31
Completion Date: 2026-10-31
Locations: Cincinnati Children's Hospital, Cincinnati, Ohio, 45229, United States

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.

Primary Outcome Measures: 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 Outcome Measures: Sensory profile 2 Auditory Processing subtest, parent-report measure of child's behavioral responses to sounds in their environment, at 6 month, 12 month, 18 month, and 24 month visits|Sensory Profile 2 Attentional subtest, parent-report measure of child's awareness of and responses to sensory cues in their environment., at 6 month, 12 month, 18 month, and 24 month visits