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Table 1 Patients characteristics at baseline (BL)

From: Fingolimod in children with Rett syndrome: the FINGORETT study

  All Individual patients
Number of patients 6 001 002 003 004 005 006
Number of females (%) 6 (100)       
Age (mean and SD) in years 11.3 (3.1) 12 13 12 10 6 15
Disease duration (mean and SD) in years 10.4 (2.5) 10 12 10 9 5 12
Height (mean and SD) in cm 143.8 (12.8) 152 123.5 144.4 147 122 155
Weight (mean and SD) in kg 50.5 (24.8) 43.6 28.5 93.40 48 27 56
BMI (mean and SD) 23.9 (10.5) 19.0 15.7 44.7 22.2 18.1 23.3
Fingolimod dose (mg)   0.5 0.25 0.5 0.5 0.25 0.5
Fingolimod administration   Normal (sometimes capsule broken with teeth) PEG (opened capsule and given with liquid) Normal Normal Opened capsule and given with liquid or meal Opened capsule and given with liquid or meal
Mutation MeCP2 confirmed (%) 6 (100)  +   +   +   +   +   + 
Rett Stage (Hagberg)   III III III IV III II
Seizures (%) 4 (66.7)  +   +   −   +   +   − 
AED 5 (83.3)  +   +   + (mood stabili − ser)  +   +   − 
Hyper-hypo-ventilation (%) 4 (66.7)  +   +   +   −   +   − 
Main symptoms at BL:        
hand skills loss (%) 6 (100.0)  +   +   +   +   +   + 
spoken language loss (%) 6 (100.0)  +   +   +   +   +   + 
gait abnormalities (%) 6 (100.0)  +   +   +   +   +   + 
stereotypical moves (%) 5 (83.3)  +   +   +   +   + 
Vineland Adaptive Behaviour Scale   41 44 89 47 45 160
Rett Symptom Severity Scale   18 25 6 18 28 4
Hand Apraxia Scale   7 10 9 10 10 3
MRI-Inspection   Normal Mode-rate generalized atrophy Micro-cephaly Normal Decent generalized atrophy Normal
BDNF serum in ng/ml
  16.79 26.59 23.95 20.77 38.16 25.90
Mean and SD 25.4 (7.2)  
Median [IQR] 24.9 [21.6, 26.4]  
BDNF csf in pg/ml
  0.265 0.318 7.309 0.266 2.581 1.783
Mean and SD 2.1 (2.7)  
Median [IQR] 1.1 [0.3, 2.4]  
NfL serum in pg/ml
  10.5 17.3 6.3 8.6 5.0 12.1
Mean and SD 10.0
(4.4)
 
Median [IQR] 9.6 [6.9, 11.7]  
NfL CSF in pg/ml
  305.3 1003.4 201.3 292.1 237.8 302.3
Mean and SD 390.4 (303.1)  
Median [IQR] 297.2 [251.4, 304.6]  
  1. SD standard deviation, AED antiepileptic drug