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

Обзор

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.

Подробное описание

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.

Вмешательства

• Другое Speech discrimination
  Two different speech sounds are played at the same sound intensity.

Первичные конечные точки

• Change in Mullen Scales of Early Learning [Срок оценки: 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 [Срок оценки: at 12 month, 18 month, and 24 month visits]
• Changes in amplitude of mismatch negativity response during sound discrimination [Срок оценки: at 12 month, 18 month, and 24 month visits]
• Changes in hearing thresholds [Срок оценки: at 12 month, 18 month, and 24 month visits]
• Otoacoustic Emissions (OAEs) [Срок оценки: at 12 month, 18 month, and 24 month visits]
• Changes in tympanometric pressure profile in the inner ear [Срок оценки: at 12 month, 18 month, and 24 month visits]
• Changes in LENA vocalizations and conversational turns [Срок оценки: at 12 month, 18 month, and 24 month visits]

Вторичные конечные точки (2)

• Sensory profile 2 Auditory Processing subtest [Срок оценки: at 6 month, 12 month, 18 month, and 24 month visits]
• Sensory Profile 2 Attentional subtest [Срок оценки: at 6 month, 12 month, 18 month, and 24 month visits]

Критерии участия

Критерии включения

• Diagnoses of Fragile X Syndrome, Typical Development, or History of Premature Birth
• able to sit independently
• English is spoken at home

Критерии исключения

• 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

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Да

Дизайн исследования

Распределение

Не применимо

Модель

Одна группа

Маскирование

Открытое

Основная цель

Фундаментальное исследование

Центры проведения

США · 1 центр

• Cincinnati Children's Hospital — Cincinnati

Идентификаторы

NCT: NCT06560242 · K23HD109375 Aim2 · K23HD109375

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

Открыть это исследование на ClinicalTrials.gov ↗