Pediatrics

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 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.

Pediatric Test menu

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. 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.

Key testing

Advantages

  • First-of-its-kind profile includes only antibodies that are pertinent to pediatric CNS disorders.
  • Included antibodies are supported by clinical research.
  • Results can facilitate early diagnosis, which can direct disease management and individualized treatment.

Highlights


Pediatric-onset multiple sclerosis

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.

Key testing

Advantages

  • Automated assay enables error-free results.
  • Same-day results for three-fourths of patients tested.
  • Reflexive approach provides increased sensitivity and definitive answers.

Pediatric sleep disorders

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.

Key testing

Advantages

  • Aids in the diagnosis and differentiation of type 1 narcolepsy from other causes of hypersomnolence.
  • Especially helpful for pediatric patients suspected of narcolepsy who are too young for a valid multiple sleep latency test (MSLT) result interpretation.

GABA-A RECEPTOR ANTIBODIES

Our cell-based GABA-A receptor antibody test is recommended — in conjunction with other autoimmune neurology profiles — for patients who present with encephalopathy with seizures. These patients also typically have multifocal large cerebral temporal and extra-temporal T2 signal abnormalities without enhancement. GABA-A receptor antibodies are biomarkers of autoimmune encephalopathy, which may occur at any age and disproportionately affects children. GABA-A receptor antibodies are the third most common neuronal biomarker in children, behind only NMDA receptor and MOG antibodies. Because disease associated with the GABA-A receptor antibody is responsive to immunotherapy if treated early, accurate and timely testing is critical.

Key testing

Advantages

  • Specific phenotype (88% of patients have refractory seizures).
  • Evaluating GABA-A receptor improves diagnostic sensitivity thereby increasing physician confidence.
  • Provides reliable confirmation of GABA-A receptor-associated disease without the need for reflex testing.
  • 75% of GABA-A receptor-positive patients had a partial or complete recovery with proper treatment.5
  • Direct a search for cancer when appropriate (thymoma).

Additional testing

Can be ordered as a standalone test in addition to the autoimmune encephalopathy, autoimmune epilepsy, or pediatric CNS autoimmune evaluations in patients who present with encephalopathy with seizures.

Highlights


References
  1. Quek AM, McKeon A, Lennon VA, et al. Effects of age and sex on aquaporin-4 autoimmunity. Arch Neurol. 2012;69(8):1039–1043. doi:10.1001/archneurol.2012.249
  2. Alroughani R, Boyko A. Pediatric multiple sclerosis: a review. BMC Neurol. 2018 Mar 9;18(1):27. doi:10.1186/s12883-018-1026-3. PMID: 29523094; PMCID: PMC5845207.
  3. Renoux C, Vukusic S, Mikaeloff Y, et al. Natural history of multiple sclerosis with childhood onset. N Engl J Med. 2007;356(25):2603–2613. doi:10.1056/NEJMoa067597
  4. Nepovimova E, Janockova J, Misik J, et al. Orexin supplementation in narcolepsy treatment: a review. Med Res Rev. 2019 May;39(3):961-975.
  5. O'Connor K, Waters P, Komorowski L, et al. GABAA receptor autoimmunity: A multicenter experience. Neurol Neuroimmunol Neuroinflamm. 2019;6(3):e552. Published 2019 Apr 4. doi:10.1212/NXI.0000000000000552
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