|
Age of ASD diagnostic confirmation
|
3.5 years
|
18 years
|
N/A
|
|
Social responsiveness scale-2
|
83 T
|
72 T
|
56 T (spouse-report)
|
|
Depression and anxiety
|
Yes
|
Yes
|
No
|
|
Seizure history
|
No
|
No
|
No
|
|
Developmental delay
|
Yes
|
No
|
No
|
|
Eye contact
|
Poor
|
Fair
|
Good
|
|
Repetitive behavior
|
Yes
|
No
|
No
|
|
Abnormal sensory sensitivities
|
Yes
|
No
|
No
|
|
IQ
|
65
|
102 (Raven)
|
108 (Raven)
|
|
Speech delay
|
Yes
|
No
|
No
|
|
ASD
|
Severe
|
Moderate
|
No
|
|
Intellectual disability
|
Yes
|
No
|
No
|
|
Mutation location
|
GPD2
|
GPD2
|
GPD2
|
|
chr2:157352686 (hg19) G>A
|
chr2:157352686 (hg19) G>A
|
chr2:157352686 (hg19) G>A
|
|
p.G78E, c.233G>A
|
p.G78E, c.233G > A
|
p.G78E, c.233G>A
|
