Evaluations designed to clarify and confirm disease presence

At Mayo Clinic Laboratories, we believe even the youngest patients deserve accurate answers. Our pediatric neurology testing was developed by a team of Mayo Clinic pediatric laboratory testing experts and clinicians and includes evaluations for pediatric-onset illnesses often misdiagnosed due to non-traditional symptom presentation.

Including evaluations for autoimmune central nervous system (CNS) disorders, multiple sclerosis, and narcolepsy, our data-driven testing provides accurate answers to guide treatment and place young patients on the path to healing.

Test menu

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CNS disorders

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Multiple sclerosis

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Sleep disorders

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Pediatric CNS disorders

In children affected by autoimmune CNS conditions, overlapping and diverse symptom presentation coupled with ambiguous, first-line test results can present a diagnostic challenge. The relapsing nature of these autoimmune conditions and potential for irreversible neurologic damage requires early, accurate diagnosis to ensure targeted treatments and disease management.

Identification of myelin oligodendrocyte glycoprotein (MOG) and aquaporin-4 (AQP4) antibodies, which drive harmful autoimmune responses, has not only allowed for an increasing recognition of pediatric-onset CNS disorders, but driven development of targeted testing to confirm diagnosis and guide treatment.

Mayo Clinic Laboratories’ first-of-its-kind profile includes only antibodies that are pertinent to pediatric CNS disorders — all in one evaluation. The antibodies included are supported by clinical research, and the results of this testing can help with diagnosis and long-term treatment planning.

This evaluation is part of an evolving approach to testing for autoimmune neurological disorders using phenotype-specific evaluations that include multiple antibodies known for their disease association.

Key testing

When to consider testing

Consider testing for children under 18 with suspected autoimmune encephalitis or other autoimmune presentation, such as ataxia or autoimmune encephalomyelitis, with one or more of the following:

• Rapid onset and progression of symptoms over weeks to months
• Behavioral changes such as unrelenting crying spells or tantrums — with or without clear cause — usually accompanied by one or more of the following: confusion, headaches, altered awareness, or movement disorder.

Pediatric-onset multiple sclerosis

While multiple sclerosis (MS) is most often diagnosed in young adults, the chronic inflammatory autoimmune disease also can affect children. Defined as MS with an onset before age 16, pediatric-onset MS (POMS) occurs in approximately 3%-10% of patients who have MS.² In pediatric patients, MS has distinctive features and a unique disease course. Children are less likely to develop primary or secondary MS in childhood; however, 98% of pediatric patients present with a relapsing-remitting course.² Although disease progression appears to be slower in pediatric patients than adults due to neuroplasticity, severe disability is reached at a younger age.

Disease-modifying therapies (DMT), when initiated early in the disease course, can effectively limit axonal damage resulting from extensive inflammatory changes and delay disability accumulation. Accurate diagnosis is critical to correctly diagnose patients and facilitate effective treatments.

Mayo Clinic Laboratories’ MS evaluation minimizes the risk of human error in test interpretation by measuring kappa immunoglobin light chains in cerebrospinal fluid (KCSF), with positive cases reflexing to oligoclonal banding. The mechanical process used in our testing provides a clear diagnostic result.

Key testing

Pediatric sleep disorders

Among pediatric sleep disorders, narcolepsy with cataplexy can be the most detrimental to children’s health. Among individuals with this disorder, one-third are estimated to be children.³ Symptoms of narcolepsy with cataplexy develop rapidly over a few weeks or months and include daytime sleepiness and sudden and brief loss of voluntary muscle control.

While a multiple sleep latency test is typically performed to diagnose and differentiate narcolepsy, several factors can interfere with this method and produce inconclusive results. An alternate testing method involves determining orexin-A/hypocretin-1 levels through cerebrospinal fluid (CSF) testing.

Mayo Clinic Laboratories’ orexin test is a sensitive, specific assay that measures concentrations of orexin, a neuropeptide produced in the hypothalamus involved in the sleep/wake cycle, to deliver accurate diagnosis. Our low CSF orexin-A/hypocretin-1 assay has greater than 90% sensitivity and specificity for the diagnosis of type 1 narcolepsy.

Key testing