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

• PCDEC | Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Spinal Fluid
• PCDES | Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Serum

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.

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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

• MSP3 | Multiple Sclerosis (MS) Profile, Serum and Spinal Fluid

Advantages

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

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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

• ORXNA | Orexin-A/Hypocretin-1, Spinal Fluid

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.

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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.