Clinical trial NCT05957549: Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG-Preschool Age
Official title: Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- Preschool Age
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Fragile X Syndrome
Lead sponsor: Children's Hospital Medical Center, Cincinnati
Sponsor class: OTHER
First posted: 2023-07-24
Enrollment: 90
Sex: ALL
Minimum age (years): 24
Maximum age (years): 4
Standard ages: CHILD
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: BASIC_SCIENCE

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.

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

Primary outcomes:
measure: Change in Mullen Scales of Early Learning
timeFrame: at single study visit between ages of 2-4 years inclusive
measure: Changes in oxygenated and deoxygenated hemoglobin concentration in response to sounds in language regions of the brain
timeFrame: at single study visit between ages of 2-4 years inclusive
measure: Changes in amplitude of mismatch negativity response during sound discrimination
timeFrame: at single study visit between ages of 2-4 years inclusive
measure: Changes in hearing thresholds
timeFrame: at single study visit between ages of 2-4 years inclusive
measure: Otoacoustic Emissions (OAEs)
timeFrame: at single study visit between ages of 2-4 years inclusive
measure: Changes in tympanometric pressure profile in the inner ear
timeFrame: at single study visit between ages of 2-4 years inclusive
Secondary outcomes:
measure: Sensory profile 2 Auditory Processing subtest
timeFrame: at single study visit between ages of 2-4 years inclusive
measure: Sensory Profile 2 Attentional subtest
timeFrame: at single study visit between ages of 2-4 years inclusive
Other outcomes:
Locations:
city: Cincinnati
country: United States
facility: Cincinnati Children'S Hospital
state: Ohio
Study officials:
References: