Table 1.
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 |
Denotes % of those for which testing was done with results known by respondent.
Denotes inability to do chi‐square due to expected value of 0.