Nationally recognized care

Children’s Health is home to several nationally recognized clinics that specialize in treatment for rare genetic disorders. These include:

Fragile X Clinic

This is a genetic disorder that is the most common genetic cause of autism in boys. It often can cause autism and intellectual disabilities in both boys and girls. A child with an intellectual disability learns and develops more slowly than other children their age. It may take longer for these children to learn to speak, walk or perform daily tasks. Children with fragile X syndrome typically have some degree of autism as well as anxiety.

Our team provides testing and treatment to help these children. We can also refer children to other departments if they can benefit from care from specialists in other areas.

Pitt-Hopkins Syndrome Clinic

Pitt-Hopkins syndrome is a rare genetic syndrome that causes a moderate-to-severe intellectual disability. It’s common for a child with this syndrome to have a developmental delay, epilepsy, distinctive facial features and/or breathing issues.

Our team provides testing and treatment. We may connect you with doctors from other departments for additional specialized care.

SLC6A1-Related Disorder Clinic

This rare genetic syndrome is often related to neurodevelopmental disability and epilepsy. The goal of this clinic is to evaluate how this disorder affects your child and develop a treatment plan. Testing is important because it shows us what strengths and weaknesses your child has. Once we know this, we can create a treatment plan that can include medications to help with symptoms. Current research is looking to replace the damaged gene.

Care for all aspects of your child’s health

In addition to our specialized clinics, our patients have access to the full scope of care at Children’s Health. We may connect children with experts from other departments to ensure we meet all their needs. This includes:

• Occupational therapy: To help children do daily tasks more easily, like moving around and honing fine motor skills (skills needed for tasks like holding a pencil, grabbing small objects or using a zipper).

• Speech and language therapy: To help children with speech and language issues

• Behavioral therapy: To help your child engage in more positive behaviors (like following directions) and fewer negative behaviors (like having tantrums).

• Genetic counseling: To help families understand genetic conditions and empower you to make the best choices for your child.

Neurology-focused care for your child

Our NDD providers have extensive training and experience in understanding how a child’s brain works, so we can identify the best therapies to help them.

Our experts know how to diagnose and treat developmental disabilities, genetic conditions, brain conditions and nerve/muscle disorders. These specialists are known for their holistic approach to medicine, working with a team of therapists, rehabilitation specialists and educators to help provide the best care for your child.

Supporting the whole family

Having a child with an NDD can be stressful for your family. That’s why we can connect your family with a team of clinical psychologists who do both in-person and virtual counseling. Our psychologists share resources with families that help them navigate home, school and work.

Shaping the next generation of NDD leaders

Children’s Health is one of eight centers nationally that actively recruits and trains neurologists to be specialists in neurodevelopmental disorders. Our NDD residency is an intensive six-year program that’s designed to train medical doctors to care for patients and do research that will improve our understanding of these disorders and their treatment.