Hennermann et al developed 2 scores for evaluating patients with glycine encephalopathy. The severity score describes the severity of the clinical findings. The authors are from Charite Universitatsmedizin Berlin, Medizinische Einrichtungen des Bezirks Oberpfalz, Max-Delbruck Center for Molecular Medicine, University of Colorado and Katholieke Universiteit Leuven.
Patient selection: glycine encephalopathy
Parameters:
(1) age at onset in months
(2) intractable seizures
(3) EEG burst suppression pattern
(4) EEG hypsarrhythmia pattern
(5) hypoplasia of corpus callosum
(6) other cerebral malformations
(7) additional (extracerebral) congenital malformations
(8) age of onset for spasticity in months
(9) frequent hiccuping
(10) feeding difficulties
(11) hyperactivity
(12) choreiform movements
|
Parameter
|
Finding
|
Points
|
|
age at onset
|
<= 3 months
|
1
|
|
|
> 3 months
|
0
|
|
intractable seizures
|
absent
|
0
|
|
|
present
|
1
|
|
EEG burst suppression
|
absent
|
0
|
|
|
present
|
1
|
|
EEG hypsarrhythmia
|
absent
|
0
|
|
|
present
|
1
|
|
hypoplasia corpus callosum
|
absent
|
0
|
|
|
present
|
1
|
|
other cerebral malformations
|
absent
|
0
|
|
|
present
|
1
|
|
other congenital malformations
|
absent
|
0
|
|
|
present
|
1
|
|
age of onset for spasticity
|
< 6 months
|
1
|
|
|
>= 6 months
|
0
|
|
frequent hiccuping
|
absent
|
0
|
|
|
present
|
1
|
|
feeding difficulties
|
absent
|
0
|
|
|
present
|
1
|
|
hyperactivity
|
absent
|
0
|
|
|
present
|
-1
|
|
choreiform movements
|
absent
|
0
|
|
|
present
|
-1
|
where:
• The authors stipulate that at least 11 of the 12 parameters should be reported.
severity score =
= SUM(points for all 12 parameters)
Interpretation:
• minimum score: -2
• maximum score: 10
• The higher the score the more severe the glycine encephalopathy.
• Children with severe glycine encephalopathy had a severity score from 4 to 10.
• Children with attenuated glycine encephalopathy had a severity score from -2 to 1.
