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Table 2 Serum and neurodiagnostic studies

From: Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder

Study

DSRD results abnormal (n, %)

DS results abnormal (n/N, %)

p value

95%CI

Serum analysis

    

 ANA

9 (13%)

21/422 (5%)

0.01

1.205.26

 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

0.040.58

 TPO antibodies (n = 43)

25 (37%)

110/478 (23%)

0.02

1.062.16

 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

10.5716.9

 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

1.2317.74

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%)

  
  1. CI confidence interval
  2. *Neurometabolic studies included lactate, pyruvate, serum amino acids, urine organic acids, free and total carnitine, and acylcarnitine profiling