Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- Infant
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Speech discrimination.
- Who it may be relevant to
- Registry conditions: Fragile X Syndrome. Basic parameters: 6 months — 26 months · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
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 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.
Interventions
- Other Speech discrimination
Two different speech sounds are played at the same sound intensity.
Primary outcome measures
- Change in Mullen Scales of Early Learning [Time frame: 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 [Time frame: at 12 month, 18 month, and 24 month visits]
- Changes in amplitude of mismatch negativity response during sound discrimination [Time frame: at 12 month, 18 month, and 24 month visits]
- Changes in hearing thresholds [Time frame: at 12 month, 18 month, and 24 month visits]
- Otoacoustic Emissions (OAEs) [Time frame: at 12 month, 18 month, and 24 month visits]
- Changes in tympanometric pressure profile in the inner ear [Time frame: at 12 month, 18 month, and 24 month visits]
- Changes in LENA vocalizations and conversational turns [Time frame: at 12 month, 18 month, and 24 month visits]
Secondary outcome measures (2)
- Sensory profile 2 Auditory Processing subtest [Time frame: at 6 month, 12 month, 18 month, and 24 month visits]
- Sensory Profile 2 Attentional subtest [Time frame: at 6 month, 12 month, 18 month, and 24 month visits]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Basic science
Study locations
United States · 1 center
- Cincinnati Children's Hospital — Cincinnati
Identifiers
NCT: NCT06560242 · K23HD109375 Aim2 · K23HD109375