Neurogenetic Disorders

Neurogenetic disorders are conditions caused by changes in genes and chromosomes. These conditions affect the brain, spinal cord, nerves and muscles. Neurogenetic disorders can create health problems at birth or later in childhood.

There are many different types of neurogenetic disorders. While these conditions are rooted in genetic changes, not all of them are inherited. Types of neurogenetic disorders include:

Autism spectrum disorder
Brain malformations
Developmental delay
Intellectual and cognitive disability
Epilepsy and seizures (genetic forms)
Metabolic disorders
Neurocutaneous disorders (for example, neurofibromatosis)
Neuromuscular disorders
Pediatric stroke
Neurodegenerative disorders

The symptoms of neurogenetic disorders vary widely, and while some symptoms get worse over time, other symptoms improve as children get older.

Symptoms of neurogenetic disorders may be very much the same as those caused by nongenetic neurologic problems. However, neurogenetic disorders are not acquired and may have a genetic cause.

When a genetic cause is identified, the information may help families better understand a particular condition. Genetic factors also may allow an estimate of recurring risk in a given family and may affect treatment of specific symptoms.

A multidisciplinary team of pediatric specialists in neurology, neurosurgery, genetics and neonatology treat neurogenetic disorders at Riley at IU Health. Depending on the specific neurogenetic condition, your child may need services from additional specialists, including experts in audiology, endocrinology, feeding disorders, ophthalmology, pain management, physical and occupational therapy, psychiatry and psychology, rehabilitation medicine and speech pathology.

Diagnosis of Neurogenetic Disorders

Doctors at Riley at IU Health perform the following exams and tests to diagnose neurogenetic disorders:

Clinical history and exam. Your child’s doctor takes a detailed history, including an in-depth family history, and will examine your child’s body, looking for signs of a neurogenetic disorder, such as certain birthmarks or unusual physical or neurologic features.
Blood tests. These may be routine chemistries, blood counts or more specialized metabolic testing that would point to a specific disorder.
Urine tests. Urine tests can also check for specific chemicals and proteins in the urine that indicate a neurogenetic disorder, replacing more invasive testing.
Lumbar puncture (spinal tap). If blood and urine testing are inconclusive, a lumbar puncture to obtain cerebrospinal fluid may be helpful.
Biopsy. Rarely, skin or muscle biopsy may be required to make a specific diagnosis.
Genetic testing. A study of a child’s DNA can reveal changes or abnormalities in genes and chromosomes that cause a neurogenetic condition. Advances in molecular genetics allow blood tests to check for certain genetic variations in the blood that are associated with a neurogenetic disorder instead of more invasive lumbar punctures and biopsies.
Magnetic resonance imaging (MRI). MRI uses a magnetic field and radio waves to create detailed images of internal body tissues such as the brain and nerves. MRI can be used to see intracranial signs of specific neurogenetic disorders.

Treatments

Treatments for neurogenetic disorders are as varied as the symptoms that accompany these conditions. Some treatments include:

Pediatric genetic counseling. A board-certified genetic counselor specially trained in neurogenetics explains the results of genetic testing to families in language that is easy to understand. This helps parents gain an idea of their child’s needs and how the condition may change over time.
Medicines. Your child’s doctor may prescribe medicines to treat symptoms such as seizures or if treatment is guided specifically by the underlying genetic diagnosis. Otherwise, the neurogeneticist will work with your child’s doctor to treat symptoms with an understanding of how the underlying diagnosis may guide that treatment.
Oncologic surgery. Some neurocutaneous disorders lead to tumor formation. Surgery has a role in treatment of some of these tumors.
Physical therapy and occupational therapy. If your child experiences loss of balance, weak muscle tone or spasticity, physical and occupational therapy can help maintain and improve balance and flexibility and assist with improvements in some developmental delays.
Speech pathology. A speech pathologist will work with your child to improve his or her ability to communicate verbally.
Learning aids. Your child’s doctor and therapists can help you work with personnel at your child’s school to assist him or her with participating in the classroom.

Key Points to Remember

Neurogenetic disorders are conditions caused by changes in genes and chromosomes that affect the brain, spinal cord, nerves and muscles.
Neurogenetic disorders can create health problems at birth or later in childhood.
There are many different types of neurogenetic disorders with varied symptoms that may get worse or improve with time.
Neurogenetic conditions are rooted in genetic changes, but only some of them are inherited.

Support Services & Resources

View these links to learn about support groups and resources for neurogenetic conditions.

Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

Children's Tumor Foundation

This organization supports research and provides extensive information for children and families living with neurofibromatosis.

Muscular Dystrophy Association (MDA)

The Muscular Dystrophy Association provides families with information and resources to manage life with a neuromuscular disease.

National Center for Biotechnology Information (NCBI)

The NCBI provides access to GeneReviews, a clinically reviewed overview of the diagnosis, management and genetic counseling of patients and families with inherited conditions.

United Mitochondrial Disease Foundation

This group supports research and helps families living with a mitochondrial disorder by providing access to information about treatments and therapies.