Autoimmune Pediatric CNS Disorders Panel, Serum and CSF

Content Review: May 2023 Last Update:

Pediatric patients are susceptible to many of the same autoimmune syndromes that affect the central nervous system (CNS) of adults. However, the incidence and prevalence of specific antineural antibodies differ between pediatric and adult patients.  In addition, diagnosis in children can be complicated by clinical overlap with other diseases (including genetic, infectious, metabolic, and psychiatric conditions), challenges in obtaining symptom history from very young patients, and the complexities of normal behavior changes during adolescence.  Evaluation for the presence of antineural antibodies facilitates treatment, prognosis, and appropriate cancer screening. 

Disease Overview

Pediatric patients may develop autoimmune syndromes affecting the CNS that are characterized by diverse phenotypes including behavior changes, disseminated encephalomyelitis, encephalopathy, and epilepsy. Early recognition of possible autoimmune causes of neurologic changes in pediatric patients allows for appropriate diagnostic testing, rapid initiation of treatment, and improved outcomes. 

For more information about laboratory testing for autoimmune neurologic diseases, refer to the ARUP Consult Autoimmune Neurologic Diseases - Antineural Antibody Testing topic.

Test Description

These serum and CSF antineural antibody panel tests may be used for the evaluation of pediatric (<18 years of age) patients with subacute onset of encephalopathy, epilepsy, behavior changes, or movement disorders. Testing for the presence of antineural antibodies in both serum and CSF may improve diagnostic yield. 

These phenotype-targeted panels test for the presence of antibodies associated with pediatric autoimmune CNS syndromes. Clinical phenotypes for specific antineural antibody-associated syndromes often overlap, and phenotype-specific panels allow for rapid identification of associated antibodies, which may have implications for treatment, prognosis, and cancer screening.  For adult patients, other phenotype-specific panels are more appropriate:

ARUP Phenotype-Specific Panels to Consider for Adults With Autoimmune Neurologic Disease
ARUP Panel
Test Code
Serum CSF

Autoimmune Encephalopathy/Dementia Panel

3006201

3006202

Autoimmune Epilepsy Panel

3006204

3006205

Autoimmune Movement Disorder Panel

3006206

3006207

Autoimmune Myelopathy Panel

3006208

3006209

Regardless of the panel chosen, order only one panel for serum and/or one panel for CSF; many antineural antibodies are redundant between these panels, and choosing based on the predominant phenotype will provide the most meaningful results. To compare these panels and the antibodies included, refer to ARUP Autoimmune Neurology Panel Components.

Testing for individual antibodies is also available separately.

Antibodies Tested and Methodology

Autoimmune Pediatric CNS Disorders Panel, Serum (3006210) and CSF (3006211): Antibodies Tested and Methodology
Autoantibody Markers Methodology
Individual Autoantibody Test Code
Serum CSF

ANNA-1 (Hu)

IFA, reflex IB, reflex titer

2007961

2010841

AQP4 Ab, IgG

CBA-IFA, reflex titer

2013320

2011699

CASPR2 Ab, IgG

CBA-IFA, reflex titer

2009452

3001986

DPPX Ab, IgG

CBA-IFA, reflex titer

3004359

3004512

GABA-AR Ab, IgG

CBA-IFA, reflex titer

3006008

3006003

GABA-BR Ab, IgG

CBA-IFA, reflex titer

3001270

3001267

GAD65 Ab

ELISA

2001771

3002788

LGI1 Ab, IgG

CBA-IFA, reflex titer

2009456

3001992

mGluR1 Ab, IgG

CBA-IFA, reflex titer

3006044

3006039

MOG Ab, IgG

CBA-IFA, reflex titer

3001277

NMDAR Ab, IgG

CBA-IFA, reflex titer

2004221

2005164

PCCA-Tr/DNER

IFA, reflex IB, reflex titer

2007961

2010841

Ab, antibody; ANNA-1, antinuclear neuronal antibody type 1; AQP4, aquaporin 4; CASPR2, contactin-associated protein 2; CBA, cell-binding assay/cell-based assay; DNER, Delta/notch-like epidermal growth factor-related receptor; DPPX, dipeptidyl-aminopeptidase-like protein 6; ELISA, enzyme-linked immunosorbent assay; GABA-AR, gamma-aminobutyric acid receptor, type A; GABA-BR, gamma-aminobutyric acid receptor, type B; GAD65, glutamic acid decarboxylase 65-kd isoform; IB, immunoblot; IFA, indirect immunofluorescence assay; LGl1, leucine-rich, glioma-inactivated protein 1; mGluR1, metabotropic glutamate receptor 1; MOG, myelin oligodendrocyte glycoprotein; NMDAR, N-methyl-D-aspartate receptor; PCCA-Tr, Purkinje cell cytoplasmic antibody type Tr

Reflex Patterns

Autoimmune Pediatric CNS Disorders Panel, Serum (3006210) and CSF (3006211): Reflex Patterns

Reflex patterns for Autoimmiune Pediatric CNS Disorders panels

Limitations

These panels do not include every antibody that has been associated with pediatric autoimmune CNS disorders:

  • Glial fibrillary acidic protein (GFAP) and neurochondrin are not included in this panel because they have been only recently identified and their prevalence is currently not well established.
    • GFAP has been reported in 0.17% of samples screened, often co-occurring with other antineural antibodies. 
    • Neurochondrin has been reported in 0.002% of samples tested. 
  • As testing for newly described antibodies becomes available and their clinical relevance is established, these panels will evolve to reflect these discoveries.

Test Interpretation

Results

Results must be interpreted in the clinical context of the individual patient; test results (positive or negative) should not supersede clinical judgment.

Autoimmune Pediatric CNS Disorders Panel, Serum (3006210) and CSF (3006211): Results Interpretation
Result Interpretation

Positive for ≥1 autoantibodies

Autoantibody(ies) detected

Supports a clinical diagnosis of an autoimmune CNS disorder

Consider a focused search for malignancy based on antibody-tumor associations

Negative

No autoantibodies detected

A diagnosis of an autoimmune CNS disorder is not excluded

References