Meyer et al developed a four point scoring system (FPSS) for clinical features shown by patients with mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome). This can be used to monitor the patient's disability over time. This authors are from the University Medical Center Hamburg-Eppendorf in Hamburg, Germany.
Metabolic defect: degradation of heparan sulfate
Parameters:
(1) motor function (mobility)
(2) speech capacity
(3) cognitive function
|
Parameter |
Finding |
Points |
|
motor function (mobility) |
normal |
3 |
|
|
clumsy walking |
2 |
|
|
requires a walking aid |
1 |
|
|
wheelchair bound or immobile |
0 |
|
speech capacity |
normal |
3 |
|
|
impaired |
2 |
|
|
difficult to understand (very limited) |
1 |
|
|
loss of speech |
0 |
|
cognitive function |
normal |
3 |
|
|
impaired/deterioration |
2 |
|
|
loss of interest in environment |
1 |
|
|
unresponsive |
0 |
where:
• A walking aid is a cane, walker or other assistive device.
total score =
= SUM(points for all 3 parameters)
Interpretation:
• maximum score: 9
• minimum score: 0
• The lower the score the more significant the impairment.
Purpose: To evaluate disability in a patient with Sanfilillp Syndrome Type A using the Four Point Scoring System (FPSS) of Meyer et al.
Specialty: Sports Medicine & Rehabilitation, Endocrinology
Objective: severity, prognosis, stage, disability and performance
ICD-10: E76.2,
