The purpose of this study is to develop standardized data collection methods for collecting data to improve the diagnosis of Down Syndrome Regression Disorder (DSRD) and support the development of effective treatments. The study will involve two groups: individuals with DSRD and individuals with Down syndrome who do not have regression.
Who can participate in this study?
- Individuals with Down syndrome who do not have DSRD
- Individuals with DSRD
- Ages 5 to 40 years
Who cannot participate in this study?
- Individuals who have:
- A history of neoplasia of any type
- Prior receipt of chemotherapy
- Prior neurosurgical intervention
- Cerebrovascular disease
- A history of immunodeficiency
- Active cardiac disease
Where does this study take place?
Children's Hospital Los Angeles
What activities are involved in this study?
Participation in the study lasts up to 12 months and includes:
- A cranial ultrasound
- A routine clinical MRI
- An additional blood collection taken during a standard clinical blood draw
- Collection of additional cerebrospinal fluid (CSF) during a clinical lumbar puncture (LP)
- Standard-of-care assessments, including a neurologic exam, a timed 25-foot walk, and several assessments of behavior, symptoms, and cognitive function.
- These cognitive and behavioral evaluations include the following:
- Bush-Francis Catatonia Rating Scale
- Neuropsychiatric Inventory Questionnaire
- Clinical Global Impression
- Severe Impairment Battery (SIB)
- Down Syndrome Mental Status Examination (DSMSE)
What languages are available for this study?
English and Spanish
Is compensation provided?
Yes
If you are interested in participating in this study or would like to learn more, please visit the study website or contact the study team at dsresearch@chla.usc.edu.
IRB ID: CHLA-25-00235