Neurogenetic Disorder

What are the signs and symptoms of neurogenetic disorders?

Children with a neurogenetic disorder may have:

• Uncontrollable (intractable) epilepsy
• Delayed developmental skills
• Abnormal or uncontrollable movements
• Muscle weakness
• Vision problems (such as retinal abnormalities, cataracts or cortical blindness)
• Hearing problems
• Abnormal head growth (such as growing too slowly or too rapidly)

Patients may have an abnormal imaging study (MRI or CT scan) that shows abnormal brain development.

What tests are used to diagnose neurogenetic conditions?

Neurogenetic disorders (such as uncontrollable epilepsy and brain malformations) are diagnosed first by a comprehensive evaluation by a specialized doctor who has extra training to recognize these conditions. Based on these findings, different tests are used to make a specific diagnosis. These tests can include:

• Blood, urine and cerebrospinal fluid testing
  • Many of the blood tests are genetic tests to determine if a child has specific genes that are known to cause neurogenetic conditions.
• Saliva/cheek swab
• Cerebrospinal fluid testing requires a lumbar puncture, usually performed under anesthesia
• Brain imaging
• Biopsies of muscle, liver or skin

Why choose Children's Hospital Colorado for neurogenetic disorder testing?

As the only neurogenetic subspecialty clinic in the Rocky Mountain region, Children's Colorado has extensive experience and testing capabilities to diagnose pediatric neurogenetic conditions.

What should you expect from a neurogenetic condition test?

While some results can be available within hours, many of these tests often take months to return a result due to the complexity of testing and analysis.

How do providers at Children's Colorado make a diagnosis?

A diagnosis is made based on clinical findings and the results of your child's tests.

How are children with neurogenetic conditions treated?

Most neurogenetic disorders do not have specific treatments or cures. Making a precise diagnosis is important to understand the underlying cause so that future treatments can be offered, when they become available. In addition, knowing the diagnosis can help to counsel families about future children. Understanding the diagnosis allows doctors at Children's Colorado to focus on ensuring the best possible quality of life for our patients.

Why choose Children's Colorado for a neurogenetic evaluation?

Parents choose our Neurogenetics Diagnostic Clinic because of the level of expertise, professionalism and care shown by our clinicians. At Children's Colorado, we provide leading-edge diagnostic technology alongside expert healthcare providers who are uniquely trained in caring for kids and their families.

We also offer opportunities for patients who meet specific requirements to participate in research with the goal of improving diagnosis and treatments for these complicated conditions.

About the Neurogenetics Diagnostic Clinic

The Children's Colorado Neurogenetics Diagnostic Clinic was formed in 2011. We work with patients who have brain malformations, intractable (uncontrollable) epilepsy or progressive neurodegenerative disorders.

Our multidisciplinary team is comprised of board-certified genetic counselors, clinical geneticists and pediatric neurologists.

Your visit to the Neurogenetics Diagnostic Clinic

Before your appointment, the counselors and physicians in the Neurogenetics Diagnostic Clinic will review your child's medical records. At the start of your appointment, you will meet with a genetic counselor who will review your child's medical history in order to confirm accuracy of information and collect other medical information.

Our physicians will then meet with you and your child to perform a physical exam, discuss additional history and answer your questions. Based on the medical history and physical examinations, our specialists will share their recommendations for additional diagnostic testing and outline a treatment plan.

What happens after a visit to the Neurogenetics Diagnostic Clinic?

After the clinic, you and your primary care provider will receive a detailed letter with recommendations for treatment, test and therapies from our providers. Our genetic counselors will work with you and your primary care physician to complete the recommendations listed, including seeking insurance approval if required.

Our genetic counselors will also discuss with you the genetics of the disease, the recurrence risk for future pregnancies and help identify other family members who may be at risk. They'll also help to provide support to your family and help you find available resources in the community.

Contact information

Please have your primary care provider contact the Children's Colorado clinic coordinator at 720-777-4041.