Neurogenetic Pediatric Clinic

About the Neurogenetic Pediatric Clinic

At the Neurogenetic Pediatric Clinic, we care for children who have neurogenetic disorders such as brain malformations, drug-resistant epilepsy and progressive neurodegenerative disorders. Neurogenetic disorders are conditions caused by changes in genes and chromosomes that affect the brain, spinal cord, nerves and muscles.

Although these conditions have genetic causes, not all of them are inherited (passed down in families). Signs of neurogenetic disorders may appear at birth or later in life.

Since 2011, our multidisciplinary team has provided comprehensive care to test for, diagnose and treat neurogenetic disorders in children. Our team includes board-certified genetic counselors, a clinical geneticist and pediatric neurologists. We support children and their families with medical care, counseling and education to help provide the best possible quality of life for your family.

Why choose us for neurogenetic disorder care?

Children's Hospital Colorado offers the only pediatric clinic for neurogenetic disorders in the Rocky Mountain region. Our team has extensive experience using the latest technologies for diagnosing and treating these complex conditions.

Parents bring their children to our providers for our expertise and compassionate approach. With advanced training, we specialize in caring for children and their families as they cope with neurogenetic disorders.

We offer eligible patients the opportunity to participate in research and clinical trials that work to improve diagnosis and treatments. Your child may receive the latest, most advanced tests and treatments, which aren’t widely available.

Who we treat at the Neurogenetic Pediatric Clinic

We diagnose children with neurogenetic disorders and provide care in our clinics specific to each neurogenetic syndrome. All our patients get the individualized care they need. Our specialists treat children with a wide range of neurogenetic disorders, including:

• 8p syndrome
• Angelman syndrome
• Batten disease
• CDKL5 deficiency disorder
• Chromosome 22q11.2 deletion syndrome (DiGeorge Syndrome)
• Dup15q disorder
• FOXG1 syndrome
• Fragile X syndrome
• MECP2 duplication syndrome
• Rett syndrome
• Ring chromosome 14 syndrome
• SLC6A1-related disorders
• Spinal muscular atrophy
• STXBP1 encephalopathy
• Tuberous sclerosis complex
• X&Y (sex) chromosome variations

Your visit to the Neurogenetic Pediatric Clinic

Before your visit, our team reviews your child’s health records. When you and your child arrive, you’ll first meet with a genetic counselor to review your child's medical history and gather other details.

Our doctors then meet with you and your child to do a physical exam, discuss more details and answer your questions. Based on the medical history and physical exam, we provide recommendations for next steps, which may include more testing or a treatment plan.

Based on your child’s diagnosis, we may offer care in one of our individual clinics. We have numerous clinics designed to care only for children with one type of neurogenetic syndrome, so your child gets exactly the care and expertise for their unique needs.

What happens after a visit to the Neurogenetic Pediatric Clinic?

After your visit, you can expect:

• Our providers will send you and your child’s primary care provider a letter with detailed recommendations for additional tests and treatment.
• Our genetic counselors will work with you and your child’s provider to complete the recommendations, and we help you get insurance approval, if required.
• Our genetic counselors will discuss details of the condition with you, including genetic information. We also discuss the risk in future pregnancies and can help identify other family members who may be at risk.
• We provide support for your family and help you find available resources in the community.

Contact the Neurogenetic Pediatric Clinic

To learn more about the Neurogenetic Pediatric Clinic on Anschutz Medical Campus or make an appointment, you or your child’s primary care provider can call us at 720-777-4041.