Auditory EEG and Behavioral Assessments in Individuals With Rett Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 60
- 试验地点
- 1
- 主要终点
- Mean Auditory Evoked Response Amplitude Measured by EEG
研究概览
简要总结
This observational research study is designed to learn more about how the brain processes sound in individuals with Rett syndrome. Participants will complete a noninvasive electroencephalogram (EEG) recording while listening to simple sounds through headphones. In addition, parents or caregivers will complete questionnaires and an interview about the participant's symptoms, communication abilities, daily functioning and overall health. The information collected from this study may help researchers better understand brain activity patterns and clinical features associated with Rett syndrome and support future research efforts.
详细描述
This study is an observational research project conducted under a broader IRB approved protocol that includes multiple neurodevelopmental and neurodegenerative conditions. The current ClinicalTrials.gov record describes only the Rett syndrome component of the research and reflects the procedures currently being performed for participants with Rett syndrome and age/sex-matched controls.
All participants in this study will undergo a noninvasive electroencephalogram (EEG) recording to measure brain responses to auditory stimuli. During the EEG, participants will listen to simple sounds through headphones while brain activity is recorded. No behavioral responses are required during the EEG recording.
Parents or caregivers of participants with Rett syndrome will complete questionnaires related to the participant's medical history, Rett syndrome symptoms, communication abilities, daily functioning and overall health. A structured interview may also be conducted with the parent/caregiver to assess adaptive behavior. In addition, a Rett syndrome severity scale may be completed by a clinician or trained member of the research team.
Control participants (or their parent/caregiver) will be asked to complete a demographics questionnaire.
This study does not involve assignment to a treatment or intervention, and does not involve the use of FDA regulated drugs or devices. Optional procedures described in the umbrella protocol such as Magnetic Resonance Imaging (MRI) studies are not part of the current Rett syndrome workflow and are not included in this study record.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Rett Syndrome Participants:
- •Inclusion Criteria:
- •Have a clinical diagnosis of classic Rett syndrome
- •Have a pathogenic MECP2 genetic variant confirmed via genetic testing
- •Are past the clinical regression stage
- •Are within the eligible age range for the study (2 years or older)
- •Are able to tolerate the noninvasive EEG recording
- •Parent or caregiver is willing and able to provide parental permission and complete questionnaires and interviews
排除标准
- •Experiences hearing impairment or hearing loss
- •Presence of medical conditions that would prevent safe participation in EEG recording
- •Inability to tolerate EEG procedures
- •Any condition that in the opinion of the investigator would interfere with study participation or data quality
- •Inclusion Criteria:
- •Neurologically healthy individuals ages 2 years or older
- •Are able to tolerate the noninvasive EEG recording
- •Exclusion Criteria:
- •Experiences hearing impairment or hearing loss
- •Medical history of genetic, neurological, or psychiatric disorders
- •History of special education services
- •Inability to tolerate EEG procedures
- •Any condition that in the opinion of the investigator would interfere with study participation or data quality
研究组 & 干预措施
Rett Syndrome Participants
Individuals with Rett syndrome who participate in this observational study will undergo a noninvasive electroencephalogram (EEG) recording while listening to simple sounds through headphones. Parents or caregivers will complete questionnaires and interviews related to the participant's symptoms, communication abilities, daily functioning and overall health. A Rett syndrome severity scale may also be completed by a clinician or trained member of the research team.
干预措施: Electroencephalogram (EEG) Recording (Procedure)
Age- and sex-matched controls
Individuals who are age- and sex-matched to Rett syndrome participants in this study will be enrolled as controls. Control participants must have no medical history of genetic, neurological, or psychiatric disorders, no history of special education services, and no hearing impairment. Control participants in this study will undergo a noninvasive electroencephalogram (EEG) recording while listening to simple sounds through headphones. Control participants (or their parent) will also complete a demographics questionnaire.
干预措施: Electroencephalogram (EEG) Recording (Procedure)
结局指标
主要结局
Mean Auditory Evoked Response Amplitude Measured by EEG
时间窗: Assessed at a single study visit (baseline, up to 1 day)
Auditory evoked brain responses will be assessed using noninvasive electroencephalogram (EEG) recordings while participants listen to simple sounds through headphones. The mean amplitude of auditory evoked responses will be derived from EEG recordings to describe auditory processing in individuals with Rett syndrome.
Mean Auditory Evoked Response Latency Measured by EEG
时间窗: Assessed at a single study visit (baseline, up to 1 day)
Auditory evoked brain responses will be assessed using noninvasive electroencephalogram (EEG) recordings while participants listen to simple sounds through headphones. The mean latency of auditory evoked responses will be derived from EEG recordings to describe auditory processing in individuals with Rett syndrome.
次要结局
- Total Score on the Rett Syndrome Severity Scale(Assessed at a single study visit (baseline, up to 1 day))
- Adaptive Behavior Composite Score on the Vineland Adaptive Behavior Scales(Assessed at a single study visit (baseline, up to 1 day))
- Total Observer-Reported Communication Ability (ORCA) Score(Assessed at a single study visit (baseline, up to 1 day))
- Total Score on the Rett Syndrome Behavior Questionnaire(Assessed at a single study visit (baseline, up to 1 day))
- Mean Domain Scores on the Neurodevelopmental Disorders-Health Index (NDD-HI)(Assessed at a single study visit (baseline, up to 1 day))
研究者
John Foxe
Professor - Department of Neuroscience (SMD)
University of Rochester