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

Cincinnati Children's Hospital Medical Center

Status: Enrolling

Conditions: Fragile X Syndrome

Treatments: Other: Speech discrimination

Study type: Interventional

Funder types: Other

Identifiers

NCT05957549

K23HD109375 Aim 1

K23HD109375

Details and patient eligibility

About

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.

Full 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.

Enrollment: 90 estimated patients

Sex: All

Ages: 24 months to 4 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

---

90 participants in 1 patient group

Speech Sounds

Experimental group

Description:

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

Treatment:

Other: Speech discrimination