In:
Journal of Inherited Metabolic Disease, Wiley, Vol. 37, No. 1 ( 2014-01), p. 93-101
Abstract:
The Suspicion Index (SI) screening tool was developed to identify patients suspected of having Niemann‐Pick disease type C (NP‐C). The SI provides a risk prediction score (RPS) based on NP‐C manifestations within and across domains (visceral, neurological, and psychiatric). The aim of these subanalyses was to further examine the discriminatory power of the SI by age and manifestation–associations by NP‐C suspicion‐level and leading manifestations. Methods The original retrospectively collected data were split into three patient age groups, where NP‐C‐positive cases were 〉 16 years ( n = 30), 4–16 years ( n = 18), and 〈 4 years ( n = 23), and patients’ RPS were analyzed by logistic regression. Co‐occurrence of manifestations within groups of suspicion level (low, medium, high) and leading manifestations (presence/absence of ataxia, cognitive decline, psychosis, and splenomegaly) were analyzed descriptively. Results NP‐C‐positive cases versus controls showed strong discriminatory power of RPS. Area under the receiver operating characteristic curve was 0.964 ( 〉 16 years) and 0.981 (4–16 years) but weaker 0.562 for infants ( 〈 4 years). Patients with RPS 〈 70 were characterized by a lack of psychiatric manifestations and low levels of neurological involvement, suggestive of a preneurological phase of the disease. In patients 〉 4 years, prominent leading manifestation–associations were ataxia with dystonia, dysarthria/dysphagia, and cognitive decline. Psychosis was associated with dysarthria/dysphagia but also with cognitive decline and treatment‐resistant psychiatric symptoms. Conclusions The SI tool maintains strong discriminatory power in patients 〉 4 years but is not as useful for infants 〈 4 years. The SI is also informative regarding the association and co‐occurrence of manifestations in patients with NP‐C.
Type of Medium:
Online Resource
ISSN:
0141-8955
,
1573-2665
DOI:
10.1007/s10545-013-9626-y
Language:
English
Publisher:
Wiley
Publication Date:
2014
detail.hit.zdb_id:
2006875-X
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