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NCT Number: NCT06560242

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

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.

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Key information

Conditions

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

Age range

6 month–26 month

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Cincinnati Children's Hospital

Cincinnati, Ohio, 45229, United States

Location status: Recruiting

Location contact

Elizabeth Smith, PhD

CONTACT

[email protected]

5135171383

About this study

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 infancy 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 infants and toddlers 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 infants and toddlers, including 15 with FXS and 15 controls. Infants will complete visits at different ages, with possible visits at 6 months, 12 months, 18 months, and 24 months, so that changes with development can be tracked over time.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Speech discrimination

Other

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

Primary outcomes

  1. Change in Mullen Scales of Early Learning

    Time frame: at 12 month, 18 month, and 24 month visits

    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.

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

    Time frame: at 12 month, 18 month, and 24 month visits

    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.

  3. Changes in amplitude of mismatch negativity response during sound discrimination

    Time frame: at 12 month, 18 month, and 24 month visits

    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.

  4. Changes in hearing thresholds

    Time frame: at 12 month, 18 month, and 24 month visits

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

  5. Otoacoustic Emissions (OAEs)

    Time frame: at 12 month, 18 month, and 24 month visits

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

  6. Changes in tympanometric pressure profile in the inner ear

    Time frame: at 12 month, 18 month, and 24 month visits

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

  7. Changes in LENA vocalizations and conversational turns

    Time frame: at 12 month, 18 month, and 24 month visits

    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'.

Secondary outcomes

  1. Sensory profile 2 Auditory Processing subtest

    Time frame: at 6 month, 12 month, 18 month, and 24 month visits

    parent-report measure of child's behavioral responses to sounds in their environment

  2. Sensory Profile 2 Attentional subtest

    Time frame: at 6 month, 12 month, 18 month, and 24 month visits

    parent-report measure of child's awareness of and responses to sensory cues in their environment.

Study contacts

Contact information is provided by the study sponsor or research team.

Craig Erickson, MD

CONTACT

[email protected]

5136366553

Elizabeth Smith, PhD

CONTACT

[email protected]

5135171383

Sponsors and collaborators

Lead sponsor

Children's Hospital Medical Center, Cincinnati

Other

Registry information

Important dates

Study start
2022
Primary completion
2027
Study completion
2027
First posted
Aug 19, 2024
Registry last updated
Jul 10, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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