A clinical rating scale for Batten disease: reliable and relevant for clinical trials
Batten disease (juvenile neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive neurodegenerative disorder characterized by blindness, seizures, and relentless decline in cognitive, motor, and behavioral function. Onset is in the early school years, with progression to death typically by l...
Saved in:
Published in | Neurology Vol. 65; no. 2; p. 275 |
---|---|
Main Authors | , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
26.07.2005
|
Subjects | |
Online Access | Get more information |
Cover
Loading…
Abstract | Batten disease (juvenile neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive neurodegenerative disorder characterized by blindness, seizures, and relentless decline in cognitive, motor, and behavioral function. Onset is in the early school years, with progression to death typically by late adolescence. Development of a clinical instrument to quantify severity of illness is a prerequisite to eventual assessment of experimental therapeutic interventions.
To develop a clinical rating instrument to assess motor, behavioral, and functional capability in JNCL.
A clinical rating instrument, the Unified Batten Disease Rating Scale (UBDRS), was developed by the authors to assess motor, behavioral, and functional capability in JNCL. Children with verified JNCL were evaluated independently by three neurologists. Intraclass correlation coefficients (ICCs) were used to estimate the interrater reliability for total scores in each domain. Interrater reliability for scale items was assessed with weighted kappa statistics.
Thirty-one children with confirmed JNCL (10 boys, 21 girls) were evaluated. The mean age at symptom onset was 6.1 +/- 1.6 years, and the mean duration of illness was 9.0 +/- 4.4 years. The ICCs for the domains were as follows: motor = 0.83, behavioral = 0.68, and functional capability = 0.85.
The Unified Batten Disease Rating Scale (UBDRS) is a reliable instrument that effectively tests for neurologic function in blind and demented patients. In its current form, the UBDRS is useful for monitoring the diverse clinical findings seen in Batten disease. |
---|---|
AbstractList | Batten disease (juvenile neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive neurodegenerative disorder characterized by blindness, seizures, and relentless decline in cognitive, motor, and behavioral function. Onset is in the early school years, with progression to death typically by late adolescence. Development of a clinical instrument to quantify severity of illness is a prerequisite to eventual assessment of experimental therapeutic interventions.
To develop a clinical rating instrument to assess motor, behavioral, and functional capability in JNCL.
A clinical rating instrument, the Unified Batten Disease Rating Scale (UBDRS), was developed by the authors to assess motor, behavioral, and functional capability in JNCL. Children with verified JNCL were evaluated independently by three neurologists. Intraclass correlation coefficients (ICCs) were used to estimate the interrater reliability for total scores in each domain. Interrater reliability for scale items was assessed with weighted kappa statistics.
Thirty-one children with confirmed JNCL (10 boys, 21 girls) were evaluated. The mean age at symptom onset was 6.1 +/- 1.6 years, and the mean duration of illness was 9.0 +/- 4.4 years. The ICCs for the domains were as follows: motor = 0.83, behavioral = 0.68, and functional capability = 0.85.
The Unified Batten Disease Rating Scale (UBDRS) is a reliable instrument that effectively tests for neurologic function in blind and demented patients. In its current form, the UBDRS is useful for monitoring the diverse clinical findings seen in Batten disease. |
Author | Messing, S Mink, J W Kwon, J M Adams, H McDonough, T Pearce, D A Ramirez-Montealegre, D Dure, L Wang, M Marshall, F J de Blieck, E A Levy, E DeYoung, J Rothberg, P G |
Author_xml | – sequence: 1 givenname: F J surname: Marshall fullname: Marshall, F J email: fred.marshall@ctcc.rochester.edu organization: University of Rochester School of Medicine and Dentistry, 1351 Mt. Hope Ave., Suite 223, Rochester, NY 14620, USA. fred.marshall@ctcc.rochester.edu – sequence: 2 givenname: E A surname: de Blieck fullname: de Blieck, E A – sequence: 3 givenname: J W surname: Mink fullname: Mink, J W – sequence: 4 givenname: L surname: Dure fullname: Dure, L – sequence: 5 givenname: H surname: Adams fullname: Adams, H – sequence: 6 givenname: S surname: Messing fullname: Messing, S – sequence: 7 givenname: P G surname: Rothberg fullname: Rothberg, P G – sequence: 8 givenname: E surname: Levy fullname: Levy, E – sequence: 9 givenname: T surname: McDonough fullname: McDonough, T – sequence: 10 givenname: J surname: DeYoung fullname: DeYoung, J – sequence: 11 givenname: M surname: Wang fullname: Wang, M – sequence: 12 givenname: D surname: Ramirez-Montealegre fullname: Ramirez-Montealegre, D – sequence: 13 givenname: J M surname: Kwon fullname: Kwon, J M – sequence: 14 givenname: D A surname: Pearce fullname: Pearce, D A |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/16043799$$D View this record in MEDLINE/PubMed |
BookMark | eNo9T0lLQzEYDKLYRf-CBO_vNctrFm-1uBQKXix4K19eEom8piWJiv_euM5lZphhYCboOO6jQ-iSkpYyymaEtu9xaEkFFZpQ3XaUc9YqOEJjOmeiEZw9jdAk55damTOpT9GICtJxqfUYbRa4H0IMPQw4QQnxGeeqHfb7hK-hFBexDdlBdlc4uSGAqSFE-2XcG8Ty3fzfKCnAkM_Qia_kzn95ija3N4_L-2b9cLdaLtZNzzQpjTBaGg2aW-MMF4KpzkopqO6Esd77XngFxnmpvFKdYDU0VlNQkihJDbApuvjZPbyanbPbQwo7SB_bv3_sE546VYM |
ContentType | Journal Article |
DBID | CGR CUY CVF ECM EIF NPM |
DOI | 10.1212/01.wnl.0000169019.41332.8a |
DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed |
DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) |
DatabaseTitleList | MEDLINE |
Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
DeliveryMethod | no_fulltext_linktorsrc |
Discipline | Medicine |
EISSN | 1526-632X |
ExternalDocumentID | 16043799 |
Genre | Research Support, Non-U.S. Gov't Journal Article |
GroupedDBID | --- -~X .55 .GJ .XZ .Z2 01R 0R~ 123 1J1 1KJ 354 3PY 4Q1 4Q2 4Q3 53G 5RE 5VS 6PF 77Y AAAXR AAGIX AAHPQ AAIQE AAJCS AAMOA AAMTA AAQKA AARTV AASCR AASOK AASXQ AAWTL AAXQO AAYEP AAYOK ABBLC ABIVO ABJNI ABOCM ABVCZ ACCJW ACDDN ACGFS ACILI ACOAL ACWRI ACXJB ADGGA ADNKB AE6 AEBDS AENEX AFDTB AFEXH AFFNX AFUWQ AGINI AHOMT AHQNM AHVBC AIJEX AKULP AKWKN ALMA_UNASSIGNED_HOLDINGS AMJPA AMKUR AMNEI AOHHW AWKKM BOYCO BQLVK BYPQX C45 CGR CS3 CUY CVF DIWNM DU5 E.X EBS ECM EIF EJD ERAAH EX3 F2K F2L F2M F2N F5P FCALG FW0 GQDEL HZ~ H~9 IKYAY IN~ J5H JF7 KD2 KMI L-C L7B N4W N9A NEJ NPM N~7 N~B O9- OAG OAH OBH ODMTH OHH OHT OHYEH OJAPA OL1 OLB OLH OLU OLV OLW OLY OLZ OPX OVD OVDNE OVIDH OVLEI OWU OWV OWW OWX OWY OWZ OXXIT P2P RHI RIG RLZ RXW SJN TEORI TWZ V2I VVN W3M WH7 WOQ WOW X7M XJT XOL XSW XXN XYM XYN YBU YCJ YFH ZKB ~9M |
ID | FETCH-LOGICAL-c290t-6b97b9a93dbeb366284d7761946bdfffc6f8abef78f88462d77bd91a870871ba2 |
IngestDate | Sat Sep 28 07:45:27 EDT 2024 |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 2 |
Language | English |
LinkModel | OpenURL |
MergedId | FETCHMERGED-LOGICAL-c290t-6b97b9a93dbeb366284d7761946bdfffc6f8abef78f88462d77bd91a870871ba2 |
PMID | 16043799 |
ParticipantIDs | pubmed_primary_16043799 |
PublicationCentury | 2000 |
PublicationDate | 2005-07-26 |
PublicationDateYYYYMMDD | 2005-07-26 |
PublicationDate_xml | – month: 07 year: 2005 text: 2005-07-26 day: 26 |
PublicationDecade | 2000 |
PublicationPlace | United States |
PublicationPlace_xml | – name: United States |
PublicationTitle | Neurology |
PublicationTitleAlternate | Neurology |
PublicationYear | 2005 |
SSID | ssj0015279 |
Score | 2.1671433 |
Snippet | Batten disease (juvenile neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive neurodegenerative disorder characterized by blindness, seizures, and... |
SourceID | pubmed |
SourceType | Index Database |
StartPage | 275 |
SubjectTerms | Adolescent Adult Child Child, Preschool Clinical Trials as Topic - standards Disease Progression Female Humans Male Neurologic Examination - methods Neurologic Examination - standards Neuronal Ceroid-Lipofuscinoses - diagnosis Neuronal Ceroid-Lipofuscinoses - physiopathology Neuronal Ceroid-Lipofuscinoses - psychology Neuropsychological Tests - standards Personality Tests - standards Predictive Value of Tests Prognosis Severity of Illness Index Treatment Outcome |
Title | A clinical rating scale for Batten disease: reliable and relevant for clinical trials |
URI | https://www.ncbi.nlm.nih.gov/pubmed/16043799 |
Volume | 65 |
hasFullText | |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1bS8MwFA5eQHwR73fJg2-js0vbtPVt3hji9rTB3kaSpiBoHToR_PWenKQXr6gvpTRdaPN9Oz05yfkOIcecgY0Lhe-FOpJeqHLhiZhrAEQoxpUQMYo99we8Nwqvx9G43hKE2SUz2VavX-aV_AdVuAa4mizZPyBbdQoX4BzwhSMgDMdfYdytExsNkCYyAOdWxhuFM4tyAcZM_B_13S0mSuGWcpNXLowwE9xb9YI1PJ6aDiuKdzQj732YCZsCLOj11otKmW6dgTvrjGsdIe3DXBeZ0qqCORfPNu598y7iEJlQJnN61c5KMu7xAOugV2bUlnxwdGFNm2hLo3yy1fDRxPyD9ktxhzKSZsWuk7bhsxqwdiKaP4JRmt4jih1u1JhsUaWfWz_oaJdN82Q-TowtHJi4jltvilicOklaeKyT7x_KiMy6jj5MRNAhGa6SFTeToF1LizUyp4t1stR3eyU2yKhLS1ypZQdFdlBAnFp2UMeOU1pygwI3aMkNvLPqw3Jjk4yuLofnPc8V0fAUS_2Zx2Uay1SkQSa1DDgHdySLMXbFZZbnueJ5IqTO4yRPwBdl0CiztCPAjsNcWgq2RRaKh0LvEBqknYQrcHqUr0PF4I_sxyICNygKIl8l0S7ZtgMymVqllEk5VHvftuyT5ZpiB2QxhzfRh-DnzeQRQvQGeddNbw |
link.rule.ids | 786 |
linkProvider | National Library of Medicine |
openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=A+clinical+rating+scale+for+Batten+disease%3A+reliable+and+relevant+for+clinical+trials&rft.jtitle=Neurology&rft.au=Marshall%2C+F+J&rft.au=de+Blieck%2C+E+A&rft.au=Mink%2C+J+W&rft.au=Dure%2C+L&rft.date=2005-07-26&rft.eissn=1526-632X&rft.volume=65&rft.issue=2&rft.spage=275&rft_id=info:doi/10.1212%2F01.wnl.0000169019.41332.8a&rft_id=info%3Apmid%2F16043799&rft_id=info%3Apmid%2F16043799&rft.externalDocID=16043799 |