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.
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. The primary purpose of this research is to collect observational brain activity and clinical data to better characterize Rett syndrome and to support future scientific and clinical research.
Study Type
OBSERVATIONAL
Enrollment
60
Participants will undergo a noninvasive electroencephalogram (EEG) recording to measure brain activity in response to auditory stimuli. During the procedure, participants will listen to simple sounds through headphones while brain signals are recorded. No behavioral responses are required.
Center for Advanced Brain Imaging and Neurophysiology, University of Rochester Medical Center
Rochester, New York, United States
RECRUITINGMean Auditory Evoked Response Amplitude Measured by EEG
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.
Time frame: Assessed at a single study visit (baseline, up to 1 day)
Mean Auditory Evoked Response Latency Measured by EEG
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.
Time frame: Assessed at a single study visit (baseline, up to 1 day)
Total Score on the Rett Syndrome Severity Scale
Overall disease severity will be assessed using the Rett Syndrome Severity Scale. The total severity score will be used to describe clinical severity in individuals with Rett syndrome. The scale may be completed by a clinician or trained member of the research team.
Time frame: Assessed at a single study visit (baseline, up to 1 day)
Adaptive Behavior Composite Score on the Vineland Adaptive Behavior Scales
Adaptive behavior will be evaluated through a structured caregiver interview using the Vineland Adaptive Behavior Scales. The composite score will be used to describe daily living skills, communication and social functioning.
Time frame: Assessed at a single study visit (baseline, up to 1 day)
Total Observer-Reported Communication Ability (ORCA) Score
Communication abilities will be assessed using a caregiver-reported questionnaire called the ORCA which evaluates expressive and receptive communication skills. ORCA total scores will be used to describe communication ability in individuals with Rett syndrome.
Time frame: Assessed at a single study visit (baseline, up to 1 day)
Total Score on the Rett Syndrome Behavior Questionnaire
The Rett Syndrome Behavior Questionnaire is a caregiver-reported instrument assessing behavioral and clinical symptoms associated with Rett syndrome. The total questionnaire score will be used to describe symptom severity among participants enrolled in the study.
Time frame: Assessed at a single study visit (baseline, up to 1 day)
Mean Domain Scores on the Neurodevelopmental Disorders-Health Index (NDD-HI)
Overall health status will be assessed using a caregiver-reported questionnaire called the Neurodevelopmental Disorders-Health Index (NDD-HI) which measures physical, social and emotional health domains specific to neurodevelopmental disorders. Mean domain scores and a total NDD-HI score will be used to describe health characteristics of participants with Rett syndrome.
Time frame: Assessed at a single study visit (baseline, up to 1 day)
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