Table 2.
Serum and neurodiagnostic studies
| Study | DSRD results abnormal (n, %) | DS results abnormal (n/N, %) | p value | 95%CI |
|---|---|---|---|---|
| Serum analysis | ||||
| ANA | 9 (13%) | 21/422 (5%) | 0.01 | 1.20–5.26 |
| Anti-DNAseB | 0 (0%) | 1/125 (1%) | 0.70 | 0.11–27.95 |
| ASO (n = 58) | 0 (0%) | 6/204 (3%) | 0.47 | 0.05–3.87 |
| B12 level | 7 (12%) | 64/1125 (6%) | 0.17 | 0.79–4.05 |
| Celiac panel | 2 (3%) | 24/506 (5%) | 0.46 | 0.13–2.48 |
| Complete metabolic profile | 5 (7%) | 88/1256 (7%) | 0.98 | 0.39–2.52 |
| CRP (n = 62) | 0 (0%) | 15/433 (3%) | 0.36 | 0.05–2.98 |
| dsDNA (n = 61) | 6 (10%) | 3/108 (3%) | 0.11 | 0.77–13.12 |
| ESR (n = 66) | 0 (0%) | 16/612 (3%) | 0.53 | 0.07–3.96 |
| Infectious screena | 12 (18%) | n/a | n/a | n/a |
| Neopterin (n = 42) | 0 (0%) | 0/12 (0%) | n/a | n/a |
| Methylmalonic acid (n = 61) | 9 (21%) | 14/203 (7%) | 0.15 | 0.79–4.67 |
| Neurometabolic studies* (n = 32) | 1 (2%) | 3/188 (2%) | 0.90 | 0.09–8.49 |
| Thyroid dysfunction (untreated) | 2 (4%) | 160/842 (19%) | 0.01 | 0.04–0.58 |
| TPO antibodies (n = 43) | 25 (37%) | 110/478 (23%) | 0.02 | 1.06–2.16 |
| Thyroglobulin antibodies (n = 42) | 20 (30%) | 107/465 (23%) | 0.37 | 0.80–1.82 |
| Vitamin D (median, IQR) | 26.5 (15–34) | 39 (32–47) | < 0.001 | 10.57–16.9 |
|
Cytokine analysis (n = 50) TNF-alpha IL-2 sIL-2 receptor IL12 Interferon gamma IL-4 IL-5 IL-10 IL-13 IL-17 IL-1beta IL-6 IL-8 |
20 (40%) 1 (5%) 0 (0%) 13 (62%) 0 (0%) 1 (5%) 0 (0%) 0 (0%) 5 (24%) 0 (0%) 0 (0%) 0 (0%) 1 (5%) 0 (0%) |
3/24 (13%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 1 (4%) 0 (0%) 0 (0%) 2 (8%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) |
0.02 | 1.23–17.74 |
| Neurodiagnostic studies (DSRD only) | ||||
| EEG abnormalities | 19 (26%) | |||
| Epileptiform discharges in frontal/temporal lobes | 11 (58%) | |||
| Diffuse slowing (non-focal) | 6 (32%) | |||
| Focal slowing | 2 (11%) | |||
| Neuroimaging abnormalities | 16 (22%) | |||
| Punctuate T2 hyperintensities (gray/white junction) | 13 (81%) | |||
| Basal ganglia calcifications | 2 (13%) | |||
| T2 signal prolongation in the temporal lobes | 1 (9%) | |||
| Both T2 hyperintensities and calcifications | 1 (9%) | |||
| Contrast enhancing lesions | 0 (0%) | |||
| CSF abnormalities (n, %, median if abnormal) | 9 (17%) | |||
| WBC | 5 (7%, 6) | |||
| RBC | 0 | |||
| Glucose | 0 | |||
| Protein | 9 (13%, 68) | |||
| Oligoclonal bands (n = 60) | 2 (3%, 2) | |||
| IgG index (n = 60) | 7 (10%, 0.70) | |||
| Mayo autoimmune encephalitis panel (n = 59) | 0 | |||
| Neopterin (n = 43) | 6 (8%, 45) | |||
| Any abnormal neurodiagnostic study? | 29 (40%) | |||
| > 2 abnormal studies | 12 (17%) |
CI confidence interval
*Neurometabolic studies included lactate, pyruvate, serum amino acids, urine organic acids, free and total carnitine, and acylcarnitine profiling