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 nontraditional symptom presentation.
Including evaluations for autoimmune central nervous system (CNS) disorders, multiple sclerosis (MS), and narcolepsy, our data-driven testing provides precision results to guide treatment and place young patients on the path to healing.
3%-5%
3%-5% of cases of neuromyelitis optica spectrum disorder (NMOSD) have a pediatric onset1
3%-10%
3%-10% of MS cases are early-onset2
1/3
1/3 of individuals with narcolepsy are estimated to be children3
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In children affected by autoimmune CNS conditions, overlapping and diverse symptom presentation coupled with ambiguous, first-line test results can present a diagnostic challenge. 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.
Consider antibody testing for children under 18 with suspected autoimmune encephalitis or other autoimmune presentation, such as ataxia or autoimmune encephalomyelitis when accompanied by rapid onset and progression or behavioral changes, such as unrelenting crying with no clear cause, combined with confusion, headache, altered awareness, or movement disorders.
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Andrew McKeon, M.B., B.Ch., M.D., explains how Mayo Clinic Laboratories' pediatric autoimmune/CNS testing can better guide the treatment of autoimmune neurological diseases in children. The tailored evaluation covers only biomarkers relevant to pediatric presentations of the diseases.
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. Accurate diagnosis is critical to correctly diagnose patients and facilitate effective, disease-modifying treatments.
Our 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.
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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.
Our 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.
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