학술논문
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).
Document Type
Academic Journal
Author
Pineda M; Fundació, Hospital Sant Joan de Déu, Centre for Biomedical Research on Rare Diseases, CIBERER, Instituto de Salud Carlos III, Barcelona, Spain. pineda@hsjdbcn.org.; Hospital Sant Joan de Deu, Passeig de Sant Joan de Deu n°2, Esplugues de Llobregat, Barcelona, 08950, Spain. pineda@hsjdbcn.org.; Mengel E; Villa Metabolica, Center for Pediatric and Adolescent Medicine, MC University of Mainz, Mainz, Germany.; Jahnová H; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Héron B; Centre de Référence des Maladies Lysosomales (CRML), Neuropédiatrie, CHU Trousseau, APHP, Paris, France.; Committee for the Evaluation of Treatment for Niemann-Pick diseases (CETNP), Paris, France.; Imrie J; Niemann-Pick UK, Vermont House, Tyne and Wear, Washington, UK.; Lourenço CM; Medical Genetics Service, Clinics Hospital of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.; van der Linden V; Association of Assistance to Deficient Children of Pernambuco, Barão de Lucena Hospital, Recife, PE, Brazil.; Karimzadeh P; Department of Paediatric Neurology, Paediatric Neurology Research Centre, Shahid Beheshti University of Medical Sciences, Mofid Children Hospital, Tehran, Iran.; Valayannopoulos V; Committee for the Evaluation of Treatment for Niemann-Pick diseases (CETNP), Paris, France.; Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte (MaMEA), Necker-Enfants Malades and IMAGINE Institute, APHP, Paris, France.; Jesina P; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Torres JV; Syntax for Science, Basel, Switzerland.; Kolb SA; Actelion Pharmaceuticals Ltd, Allschwil, Switzerland.
Source
Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE
Subject
Language
English
Abstract
Background: Niemann-Pick disease Type C (NP-C) is difficult to diagnose due to heterogeneous and nonspecific clinical presentation. The NP-C Suspicion Index (SI) was developed to identify patients with a high likelihood of NP-C; however, it was less reliable in patients aged <4 years.
Methods: An early-onset NP-C SI was constructed following retrospective chart review of symptom presentation in 200 patients from nine centres comprised of 106 NP-C cases, 31 non-cases and 63 controls. Statistical analyses defined strength of association between symptoms and a diagnosis of NP-C and assigned risk prediction scores to each symptom.
Results: Visceral symptoms were amongst the strongest predictors. Except for gelastic cataplexy and vertical supranuclear gaze palsy, central nervous system symptoms were not discriminatory in this population. Performance of the early-onset NP-C SI was superior versus the original NP-C SI in patients aged ≤4 years.
Conclusions: The early-onset NP-C SI can help physicians, especially those with limited knowledge of NP-C, to identify patients aged ≤4 years who warrant further investigation for NP-C.
Methods: An early-onset NP-C SI was constructed following retrospective chart review of symptom presentation in 200 patients from nine centres comprised of 106 NP-C cases, 31 non-cases and 63 controls. Statistical analyses defined strength of association between symptoms and a diagnosis of NP-C and assigned risk prediction scores to each symptom.
Results: Visceral symptoms were amongst the strongest predictors. Except for gelastic cataplexy and vertical supranuclear gaze palsy, central nervous system symptoms were not discriminatory in this population. Performance of the early-onset NP-C SI was superior versus the original NP-C SI in patients aged ≤4 years.
Conclusions: The early-onset NP-C SI can help physicians, especially those with limited knowledge of NP-C, to identify patients aged ≤4 years who warrant further investigation for NP-C.