Wijburg et al reported a suspicion index to aid in the recognition of Niemann-Pick disease Type C. The authors are from multiple institutions from Europe and Australia.
Visceral category:
(1) prolonged unexplained neonatal jaundice or cholestasis
(2) isolated unexplained splenomegaly with or without hepatosplenomegaly
(3) hydrops fetalis
(4) siblings with fetal ascites
Neurological category:
(1) vertical supranuclear gaze palsy
(2) gelastic cataplexy
(3) ataxia, clumsiness or frequent falls
(4) dysarthria and/or dysphagia
(5) dystonia
(6) acquired and progressive spasticity
(7) hypotonia
(8) developmental delay (failure to meet developmental milestones)
(9) seizures (partial or generalized)
(10) myoclonus
Psychiatric category:
(1) pre-senile cognitive decline and/or dementia
(2) psychiatric symptoms (hallucinations, delusions, thought disorder)
(3) treatment-resistant psychiatric symptoms
(4) other psychiatric disorders
(5) disruptive or aggressive behavior in adolescence or childhood
|
Parameter |
Findings |
Points |
|
prolonged jaundice or cholestasis |
no |
0 |
|
|
yes |
20 |
|
unexplained splenomegaly |
no |
0 |
|
|
yes |
20 |
|
hydrops fetalis |
no |
0 |
|
|
yes |
1 |
|
siblings with ascites |
no |
0 |
|
|
yes |
1 |
|
vertical supranuclear gaze palsy |
no |
0 |
|
|
yes |
40 |
|
gelastic cataplexy |
no |
0 |
|
|
yes |
40 |
|
ataxia, clumsiness or frequent falls |
yes |
10 |
|
|
no |
0 |
|
dtsarthria and/or dysphagia |
yes |
10 |
|
|
no |
0 |
|
dystonia |
yes |
10 |
|
|
no |
0 |
|
spasticity |
yes |
5 |
|
|
no |
0 |
|
hypotonia |
yes |
1 |
|
|
no |
0 |
|
developmental delay |
yes |
1 |
|
|
no |
0 |
|
seizures |
yes |
1 |
|
|
no |
0 |
|
myoclonus |
yes |
1 |
|
|
no |
0 |
|
cognitive decline or dementia |
no |
0 |
|
|
yes |
20 |
|
psychiatric symptoms |
no |
0 |
|
|
yes |
10 |
|
treatment-resistance psychiatric symptoms |
no |
0 |
|
|
yes |
5 |
|
other psychiatric disorders |
no |
0 |
|
|
yes |
5 |
|
disruptive or aggressive behavior |
no |
0 |
|
|
yes |
1 |
where:
• Point assignment is based on indicator strength (very strong 40, strong, 20, moderate, 10, weak 1)
subscore for visceral category =
= SUM(points for all 4 parameters)
subscore for neurological category =
= SUM(points for all 10 parameters)
subscore for psychiatric category =
= SUM(points for all 5 parameters)
Additional subscores:
(1) both visceral and psychiatric findings
(2) both visceral and neurological findings
(3) both neurological and psychiatric findings
(4) parent or sibling with Niemann-Pick disease
(5) cousin with Niemann-Pick disease
|
Subscore |
Finding |
Points |
|
visceral and psychiatric |
no |
0 |
|
|
yes |
40 |
|
visceral and neurological |
no |
0 |
|
|
yes |
40 |
|
neurological and psychiatric |
no |
0 |
|
|
yes |
20 |
|
parent or sibling |
no |
0 |
|
|
yes |
40 |
|
cousin |
no |
0 |
|
|
yes |
10 |
total score =
= SUM(points for all subscores)
Interpretation:
• minimum score: 0
• maximum visceral category subscore: 42
• maximum neurological category subscore: 119
• maximum psychiatric category subscore: 41
• maximum additional subscore: 150
• maximum total score: 352
• The higher the score the greater the risk of Niemann-Pick disease.
• A score >= 70 should trigger testing for Niemann-Pick disease type C.
Specialty: Genetics
