Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
Identifieur interne : 004045 ( Main/Exploration ); précédent : 004044; suivant : 004046Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
Auteurs : James E. Wraith [Royaume-Uni] ; Frédéric Sedel [France] ; Mercèdes Pineda [Espagne] ; Frits A. Wijburg [Pays-Bas] ; Christian J. Hendriksz [Royaume-Uni] ; Michael Fahey [Australie] ; Mark Walterfang [Australie] ; Marc C. Patterson [États-Unis] ; Harbajan Chadha-Boreham [Suisse] ; Stefan A. Kolb [Suisse]Source :
- Journal of inherited metabolic disease [ 0141-8955 ] ; 2014.
Descripteurs français
- Pascal (Inist)
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- topic : Association, Génétique, Nutrition.
English descriptors
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Abstract
Objective 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.
Affiliations:
- Australie, Espagne, France, Pays-Bas, Royaume-Uni, Suisse, États-Unis
- Angleterre, Catalogne, Grand Manchester, Hollande-Septentrionale, Victoria (État), Île-de-France
- Amsterdam, Barcelone, Manchester, Melbourne, Paris
- Université d'Amsterdam, Université de Manchester, Université de Melbourne
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Patterson</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Division of Child and Adolescent Neurology, Mayo Clinic</s1><s2>Rochester, MN 55905</s2><s3>USA</s3><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Rochester, MN 55905</wicri:noRegion></affiliation></author><author><name sortKey="Chadha Boreham, Harbajan" sort="Chadha Boreham, Harbajan" uniqKey="Chadha Boreham H" first="Harbajan" last="Chadha-Boreham">Harbajan Chadha-Boreham</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Actelion Pharmaceuticals Ltd</s1><s2>4123 Allschwil</s2><s3>CHE</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Suisse</country><wicri:noRegion>Actelion Pharmaceuticals Ltd</wicri:noRegion></affiliation></author><author><name sortKey="Kolb, Stefan A" sort="Kolb, Stefan A" uniqKey="Kolb S" first="Stefan A." last="Kolb">Stefan A. Kolb</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Actelion Pharmaceuticals Ltd</s1><s2>4123 Allschwil</s2><s3>CHE</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Suisse</country><wicri:noRegion>Actelion Pharmaceuticals Ltd</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">14-0181237</idno><date when="2014">2014</date><idno type="stanalyst">PASCAL 14-0181237 INIST</idno><idno type="RBID">Pascal:14-0181237</idno><idno type="wicri:Area/PascalFrancis/Corpus">000334</idno><idno type="wicri:Area/PascalFrancis/Curation">005B28</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000181</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000181</idno><idno type="wicri:doubleKey">0141-8955:2014:Wraith J:niemann:pick:type</idno><idno type="wicri:Area/Main/Merge">004105</idno><idno type="wicri:Area/Main/Curation">004045</idno><idno type="wicri:Area/Main/Exploration">004045</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations</title><author><name sortKey="Wraith, James E" sort="Wraith, James E" uniqKey="Wraith J" first="James E." last="Wraith">James E. Wraith</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Genetic Medicine, St. Mary's Hospital, Oxford Road</s1><s2>Manchester M13 9WL</s2><s3>GBR</s3><sZ>1 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Manchester M13 9WL</wicri:noRegion></affiliation></author><author><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology and Reference Center for Lysosomal Diseases, Groupe Hospitalier Pitié-Salpêtrière</s1><s2>75013 Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75013 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Pineda, Mercedes" sort="Pineda, Mercedes" uniqKey="Pineda M" first="Mercèdes" last="Pineda">Mercèdes Pineda</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Fundació, Hospital Sant Joan de Déu, Centre for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>3 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Wijburg, Frits A" sort="Wijburg, Frits A" uniqKey="Wijburg F" first="Frits A." last="Wijburg">Frits A. Wijburg</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Department of Paediatrics, Academic Medical Center, University of Amsterdam</s1><s2>11005 AZ Amsterdam</s2><s3>NLD</s3><sZ>4 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region>Hollande-Septentrionale</region></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Hendriksz, Christian J" sort="Hendriksz, Christian J" uniqKey="Hendriksz C" first="Christian J." last="Hendriksz">Christian J. Hendriksz</name><affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Manchester Academic Health Science Centre (MAHSC), Salford Royal Hospital NHS Foundation Trust, University of Manchester, Brunswick Street</s1><s2>Manchester M13 9PL</s2><s3>GBR</s3><sZ>5 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Manchester M13 9PL</wicri:noRegion><orgName type="university">Université de Manchester</orgName><placeName><settlement type="city">Manchester</settlement><region type="nation">Angleterre</region><region nuts="2" type="region">Grand Manchester</region></placeName></affiliation></author><author><name sortKey="Fahey, Michael" sort="Fahey, Michael" uniqKey="Fahey M" first="Michael" last="Fahey">Michael Fahey</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Paediatrics, Monash University</s1><s2>Clayton, Victoria</s2><s3>AUS</s3><sZ>6 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Clayton, Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Walterfang, Mark" sort="Walterfang, Mark" uniqKey="Walterfang M" first="Mark" last="Walterfang">Mark Walterfang</name><affiliation wicri:level="4"><inist:fA14 i1="07"><s1>Department of Neuropsychiatry, Royal Melbourne Hospital and Melbourne Neuropsychiatry Center, University of Melbourne</s1><s2>3050 Melbourne, Victoria</s2><s3>AUS</s3><sZ>7 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Patterson, Marc C" sort="Patterson, Marc C" uniqKey="Patterson M" first="Marc C." last="Patterson">Marc C. Patterson</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Division of Child and Adolescent Neurology, Mayo Clinic</s1><s2>Rochester, MN 55905</s2><s3>USA</s3><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Rochester, MN 55905</wicri:noRegion></affiliation></author><author><name sortKey="Chadha Boreham, Harbajan" sort="Chadha Boreham, Harbajan" uniqKey="Chadha Boreham H" first="Harbajan" last="Chadha-Boreham">Harbajan Chadha-Boreham</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Actelion Pharmaceuticals Ltd</s1><s2>4123 Allschwil</s2><s3>CHE</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Suisse</country><wicri:noRegion>Actelion Pharmaceuticals Ltd</wicri:noRegion></affiliation></author><author><name sortKey="Kolb, Stefan A" sort="Kolb, Stefan A" uniqKey="Kolb S" first="Stefan A." last="Kolb">Stefan A. Kolb</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Actelion Pharmaceuticals Ltd</s1><s2>4123 Allschwil</s2><s3>CHE</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Suisse</country><wicri:noRegion>Actelion Pharmaceuticals Ltd</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Journal of inherited metabolic disease</title><title level="j" type="abbreviated">J. inherit. metab. dis.</title><idno type="ISSN">0141-8955</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Journal of inherited metabolic disease</title><title level="j" type="abbreviated">J. inherit. metab. dis.</title><idno type="ISSN">0141-8955</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age</term><term>Analysis</term><term>Association</term><term>Genetic disease</term><term>Genetics</term><term>Index</term><term>Lipids</term><term>Metabolic diseases</term><term>Niemann-Pick disease</term><term>Nutrition</term><term>Tool</term><term>Type</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Sphingolipidose héréditaire de Niemann-Pick</term><term>Type</term><term>Indice</term><term>Outil</term><term>Analyse</term><term>Age</term><term>Association</term><term>Génétique</term><term>Maladie métabolique</term><term>Nutrition</term><term>Maladie héréditaire</term><term>Lipide</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Association</term><term>Génétique</term><term>Nutrition</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objective 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.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Espagne</li><li>France</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suisse</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Catalogne</li><li>Grand Manchester</li><li>Hollande-Septentrionale</li><li>Victoria (État)</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Barcelone</li><li>Manchester</li><li>Melbourne</li><li>Paris</li></settlement><orgName><li>Université d'Amsterdam</li><li>Université de Manchester</li><li>Université de Melbourne</li></orgName></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Wraith, James E" sort="Wraith, James E" uniqKey="Wraith J" first="James E." last="Wraith">James E. Wraith</name></noRegion><name sortKey="Hendriksz, Christian J" sort="Hendriksz, Christian J" uniqKey="Hendriksz C" first="Christian J." last="Hendriksz">Christian J. Hendriksz</name></country><country name="France"><region name="Île-de-France"><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name></region></country><country name="Espagne"><region name="Catalogne"><name sortKey="Pineda, Mercedes" sort="Pineda, Mercedes" uniqKey="Pineda M" first="Mercèdes" last="Pineda">Mercèdes Pineda</name></region></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Wijburg, Frits A" sort="Wijburg, Frits A" uniqKey="Wijburg F" first="Frits A." last="Wijburg">Frits A. Wijburg</name></region></country><country name="Australie"><noRegion><name sortKey="Fahey, Michael" sort="Fahey, Michael" uniqKey="Fahey M" first="Michael" last="Fahey">Michael Fahey</name></noRegion><name sortKey="Walterfang, Mark" sort="Walterfang, Mark" uniqKey="Walterfang M" first="Mark" last="Walterfang">Mark Walterfang</name></country><country name="États-Unis"><noRegion><name sortKey="Patterson, Marc C" sort="Patterson, Marc C" uniqKey="Patterson M" first="Marc C." last="Patterson">Marc C. Patterson</name></noRegion></country><country name="Suisse"><noRegion><name sortKey="Chadha Boreham, Harbajan" sort="Chadha Boreham, Harbajan" uniqKey="Chadha Boreham H" first="Harbajan" last="Chadha-Boreham">Harbajan Chadha-Boreham</name></noRegion><name sortKey="Kolb, Stefan A" sort="Kolb, Stefan A" uniqKey="Kolb S" first="Stefan A." last="Kolb">Stefan A. Kolb</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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