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Neurogenetic conditions are genetic disorders that affect how the brain functions and in some cases how the brain is formed. These disorders may result in uncontrollable epilepsy, abnormal movement and delay of developmental milestones.
Neurogenetic disorders are typically the result of a genetic change that may be inherited from unaffected parents or may be the result of a new change in a patient’s genes.
Neurogenetic disorders (such as uncontrollable epilepsy and brain malformations) affect all ages, races and sexes. They typically become noticeable very early in life.
Learn about treatment at the Neurogenetics Diagnostic Clinic at Children’s Hospital Colorado.
Children with a neurogenetic disorder may have:
Patients may have an abnormal imaging study (MRI or CT scan) that shows abnormal brain development.
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:
As the only neurogenetic subspecialty clinic in the multi-state area, Children’s Colorado has the extensive experience and testing capabilities to diagnose pediatric neurogenetic conditions.
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.
A diagnosis is made based on clinical findings and the results of your child’s tests.
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 Hospital Colorado to focus on ensuring the best possible quality of life for our patients.
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.
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 two board-certified genetic counselors, a clinical geneticist and a pediatric neurologist.
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.
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.
How to make an appointment at the Neurogenetics Clinic:
Please have your primary care provider or doctor at Children’s Hospital Colorado contact the clinic coordinator at 720-777-3697.
Certified Pediatric Nurse Practitioner
Certified Pediatric Nurse Practitioner