While recent research has demonstrated that whole genome sequencing is a powerful first-line diagnostic tool, important questions remain around its long-term impact on downstream clinical management approaches. The investigators hope to address these questions by way of chart review and survey administration in a small population of suspected leukodystrophy patients who receive whole genome sequencing as part of their clinical care.

The purpose of this study to learn more about the brain function of females with Rett Syndrome and how it compares to the brain function of typically developing females. The primary investigator of the study is Dr. Eric Marsh. For our research to be successful we need to partner with families who have a typically developing daughter between the age of 1 and 17. If your child agrees to help us with our study she will be asked to:

• Complete intelligence testing
• Receive an Evoked Potential measurement - this is a non-invasive procedure similar to an EEG.
• Complete yearly follow up visits

In order to understand the conditions that affect the children cared for in the Division of Neurology, we need to better understand underlying mechanisms. This study will enable us to understand how the brain and nervous system work. The goal of this study is to collect biological samples and medical information from children to create a Neuroscience Biorepository to advance future neurological research. Any patient with a neurological condition can participate. Please talk to your provider (Nurse Practitioner or Doctor) about opportunities for your children or their friends to help.

Children ata higher risk for Cerebral Palsy or children diagnosed with Cerebral Palsy within the age range of 4-13 months (corrected age) are being recruited for an Early Detection study.

For 3-months, two programswill beoffered that may help babies with cerebral palsy move and use their arms more like other children at an early age. If you decide to participate, your participation may mean:

• 6-week telehealth therapy program (with one in-person visit) with our occupational/physical therapist to learn simple exercises to help your baby use their weaker arm. Your baby would also wear a soft mitt on their stronger arm to help them use their weaker arm.

• 6-week telehealth parent support program, (with one in-person visit) with our counselor to learn more about movement, how babies learn, and parenting tips specifically designed for your family.

• Two to three total in-person visits to our lab space to complete assessments and answer questions about how your baby is growing