Aicardi Goutieres Syndrome is a severe autoinflammatory leukodystrophy with pathogenic changes in 7 distinct genes within a common pathway. It is associated with global neurologic dysfunction which can be measured by the AGS scale of Adang et al. The authors are from the University of Pennsylvania, Children's Hospital of Philadelphia, ASST Spedali Civil of Brescia and IRCCS Mondino Foundation in Pavia.
Patient selection: Aicardi Goutieres syndrome
Parameters:
(1) normocephaly
(2) social smile
(3) vocalizations
(4) single, meaningful words
(5) minimum of 3-word phrases
(6) head control for > 60 seconds
(7) pincer grasp or self-feeding
(8) independent sitting for > 2 minutes
(9) rolling or crawling to goal
(10) ambulation with assistance (devices or 2-hand assist)
(11) independent ambulation (no assistive devices)
Response
Points
absent
0
present
1
total score =
= SUM(points for all of the parameters)
Interpretation:
• minimum score: 0
• maximum score: 11
Total Score
Neurologic Impairment
10 or 11
mild
4 to 9
moderate
0 to 3
severe
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