Baumann et al modified a neurological score for patients with X-linked adrenoleukodystrophy (XALD) developed by the X-ALD International Research Group. This can help monitor neurologic findings over time. The authors are from multiple hospitals in Germany.
Parameters:
(1) motor signs
(2) hearing problems
(3) visual problems (decreased visual acuity, field cuts, reading problems, etc)
(4) speech problems (dysphasia, dysarthria)
(5) swallowing problems
(6) incontinence
(7) nonfebrile seizures
|
Parameter |
Finding |
Points |
|
motor signs |
none |
0 |
|
|
mild motor signs |
1 |
|
|
walking difficulties, no assistance needed |
2 |
|
|
walking difficulties, assistance required |
3 |
|
|
wheelchair dependent |
4 |
|
|
no voluntary movements |
5 |
|
hearing problems |
none |
0 |
|
|
mild |
1 |
|
|
severe |
2 |
|
|
deaf |
3 |
|
visual problems |
none |
0 |
|
|
mild |
1 |
|
|
severe |
2 |
|
|
cortical blindness |
3 |
|
speech problems |
none |
0 |
|
|
mild |
1 |
|
|
severe |
2 |
|
|
loss of speech |
3 |
|
swallowing problems |
none |
0 |
|
|
dysphagia |
1 |
|
|
requires tube feedings |
2 |
|
incontinence |
none |
0 |
|
|
episodic |
1 |
|
|
constant (total) |
2 |
|
nonfebrile seizures |
0 or 1 |
0 |
|
|
>= 2 |
1 |
where:
• Mild motor signs include hyper-reflexia, fine motor difficulties, mild dystonia, difficulty running, mild cerebellar symptoms, nystagmus, etc
• Walking difficulties include spasticity or more severe cerebellar symptoms.
total score =
= SUM(points for all 7 parameters)
Interpretation:
• minimum score: 0
• maximum score: 19
• The higher the score the more severe the neurological involvement.
Specialty: Genetics
