Synaptopathy Clinic

The highly specialized pediatric Synaptopathy Clinic at Stanford Medicine Children’s Health provides comprehensive, tailored care to children with genetic brain disorders called synaptopathies. Because synaptopathies in children can cause many types of challenges, we bring multiple specialists together to care for your child. We create a holistic care plan that is tailored to your child’s precise needs, helping them achieve a higher quality of life.

At Stanford Children’s, we aim to create a place where families have access to state-of-the-art, research-informed care, receive support, and experience hope. We are the only pediatric Synaptopathy Clinic in the West and one of a handful in the nation. We care for children and young adults.

What are synaptopathies?

The brain is made up of hundreds of millions of cells (neurons) that talk to each other to process information. The point at which they exchange information is a special part of a brain cell called the synapse. Synapses are essential for processing information, learning, and developing.

Figure created with Biorender

Genes provide instructions to build proteins that help synapses work properly. When one of these synapse genes becomes mutated or lost early in development, synapses may not work properly. This can result in a spectrum of synaptopathy symptoms in children, including autism spectrum disorder, brain and nervous system delays (neurodevelopmental), motor development delays, sleep disruption, behavioral problems, intellectual disability, sensory processing issues, speech delays, and epilepsy. Each synaptic disorder is unique, so your child may experience some but not all of these symptoms.

Our team offers expertise in scientific research and clinical care that can help diagnose these rare genetic brain disorders and help you and your child understand how specific gene changes may lead to differences that you observe, and what treatments may help.