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. 2019 Aug 10;7(9):e837. doi: 10.1002/mgg3.837

Table 1.

Demographics and behavioral characteristics of mAS patients

  AS consensus criteria (%) mAS
n (%)
mean ± SD/range
mAS with known %mosaicism
n (%)
mean ± SD/range
p‐value
Gender        
Female   9 (41) 1 (20)  
Male   13 (59) 4 (80)  
Total   22 5  
Current age (years)   12 (3–30) 12 (6–20)  
Age diagnosis (years)   4y 4m. ± 3y 2m 5y ± 2y 6m  
% Mosaicism        
Known   5 (24)    
% Mosaicism if known     42 ± 22  
MRI/CNS findings        
Mild cortical atrophy/dysmyelination   2 (29)a 1 (50)a 0.51
No atrophy/dysmyelination   5 (71)a 1 (50)a 0.51
MRI not done   4 (18) 3 (60)  
Not known/reported   11 (50) 0 (0)  
Flat occiput 20–80 7 (32) 1 (20)  
Hyperactivity   13 (59) 2 (40) 0.39
Treated with        
Stimulant   3    
Guanfacine   3 1  
Behavioral approaches   2    
Outside play   1    
Proprioceptive sensory diet   1    
Erythromycin   1    
Other behaviors        
Food seeking 20–80 18 (82) 3 (60) 0.2
Attraction/fascination with water 20–80 11 (50) 3 (60) 0.65
Attraction/fascination with crinkly items 20–80 10 (45) 1 (20) 0.26
Excessive chewing/mouthing 20–80 9 (41) 2 (40) 0.99
‐outgrew   1 (5) 1 (20)  
ADLs        
Feed themselves   22 (100) 5 (100) b
Brush teeth   18 (82) 4 (80) 0.91
Shower independently   14 (64) 4 (80) 0.46
Answer questions   11 (50) 4 (80) 0.18
Ride a 2‐wheeled bike unassisted   10 (45) 3 (60) 0.5
Do house cleaning chores   8 (36) 2 (40) 0.85
Do laundry   5 (23) 2 (40) 0.37
Toilet trained        
Daytime   19 (86) 5 (100) 0.37
Nighttime   11 (50) 3 (60) 0.65
a

Denotes % of those for which testing was done with results known by respondent.

b

Denotes inability to do chi‐square due to expected value of 0.