Literature DB >> 22013181

Quantitative telemedicine ratings in Batten disease: implications for rare disease research.

J Cialone1, E F Augustine, N Newhouse, A Vierhile, F J Marshall, J W Mink.   

Abstract

OBJECTIVE: To determine if remote administration of the Unified Batten Disease Rating Scale (UBDRS) Physical Impairment subscale by telemedicine is reliable and feasible across a broad range of disease severity.
METHODS: For the majority (n = 10) of subjects, the examination was performed by a nonphysician who had been trained to perform the examination but not to score the subjects. A trained rater scored the subjects via live video; a second trained rater performed a separate examination in person and scored that examination. For 3 telemedicine evaluations, examinations were performed and scored by a trained rater while a second trained rater simultaneously scored the subjects via live video. Reliability was determined by intraclass correlation coefficient (ICC).
RESULTS: Subjects (n = 13) represented a wide range of disease severity. Remote administration of the UBDRS Physical Impairment subscale had high interrater reliability across all subjects (ICC = 0.94). When only the subjects (n = 10) who had been examined by the nonphysician and scored remotely were included in the analysis, the reliability was unchanged (ICC = 0.95).
CONCLUSIONS: The UBDRS Physical Impairment subscale is reliable and feasible for remote administration. Telemedicine has the potential to be a useful tool in rare neurologic disease research and clinical assessment.

Entities:  

Mesh:

Year:  2011        PMID: 22013181      PMCID: PMC3233206          DOI: 10.1212/WNL.0b013e3182377e29

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  7 in total

Review 1.  Neuronal ceroid lipofuscinoses in childhood.

Authors:  P Santavuori; L Lauronen; E Kirveskari; L Aberg; K Sainio; T Autti
Journal:  Neurol Sci       Date:  2000       Impact factor: 3.307

2.  Dementia in the neuronal ceroid-lipofuscinoses.

Authors:  H H Goebel; A Kohlschütter
Journal:  Adv Exp Med Biol       Date:  2001       Impact factor: 2.622

3.  Increasing access to specialty care: a pilot, randomized controlled trial of telemedicine for Parkinson's disease.

Authors:  E Ray Dorsey; Lisa M Deuel; Tiffini S Voss; Kara Finnigan; Benjamin P George; Sheelah Eason; David Miller; Jason I Reminick; Anna Appler; Joyce Polanowicz; Lucy Viti; Sandy Smith; Anthony Joseph; Kevin M Biglan
Journal:  Mov Disord       Date:  2010-08-15       Impact factor: 10.338

4.  Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.

Authors:  Paul G Rothberg; Denia Ramirez-Montealegre; Sharon D Frazier; David A Pearce
Journal:  J Mol Diagn       Date:  2004-08       Impact factor: 5.568

5.  Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).

Authors:  J M Kwon; H Adams; P G Rothberg; E F Augustine; F J Marshall; E A Deblieck; A Vierhile; C A Beck; N J Newhouse; J Cialone; E Levy; D Ramirez-Montealegre; L S Dure; K R Rose; J W Mink
Journal:  Neurology       Date:  2011-10-19       Impact factor: 9.910

6.  A clinical rating scale for Batten disease: reliable and relevant for clinical trials.

Authors:  F J Marshall; E A de Blieck; J W Mink; L Dure; H Adams; S Messing; P G Rothberg; E Levy; T McDonough; J DeYoung; M Wang; D Ramirez-Montealegre; J M Kwon; D A Pearce
Journal:  Neurology       Date:  2005-07-26       Impact factor: 9.910

7.  Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies.

Authors:  Heather R Adams; Jennifer Kwon; Frederick J Marshall; Elisabeth A de Blieck; David A Pearce; Jonathan W Mink
Journal:  J Child Neurol       Date:  2007-05       Impact factor: 1.987

  7 in total
  15 in total

Review 1.  Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).

Authors:  Heather R Adams; Jonathan W Mink
Journal:  J Child Neurol       Date:  2013-09       Impact factor: 1.987

2.  Clinical trials in rare disease: challenges and opportunities.

Authors:  Erika F Augustine; Heather R Adams; Jonathan W Mink
Journal:  J Child Neurol       Date:  2013-09       Impact factor: 1.987

Review 3.  The Promise of Telemedicine for Movement Disorders: an Interdisciplinary Approach.

Authors:  H Ben-Pazi; P Browne; P Chan; E Cubo; M Guttman; A Hassan; J Hatcher-Martin; Z Mari; E Moukheiber; N U Okubadejo; A Shalash
Journal:  Curr Neurol Neurosci Rep       Date:  2018-04-13       Impact factor: 5.081

4.  Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.

Authors:  Elisabeth A de Blieck; Erika F Augustine; Frederick J Marshall; Heather Adams; Jennifer Cialone; Leon Dure; Jennifer M Kwon; Nicole Newhouse; Katherine Rose; Paul G Rothberg; Amy Vierhile; Jonathan W Mink
Journal:  Contemp Clin Trials       Date:  2013-04-26       Impact factor: 2.226

5.  Rare disease care pathways in the EU: from odysseys and labyrinths towards highways.

Authors:  Birute Tumiene; Holm Graessner
Journal:  J Community Genet       Date:  2021-03-18

Review 6.  Novel methods and technologies for 21st-century clinical trials: a review.

Authors:  E Ray Dorsey; Charles Venuto; Vinayak Venkataraman; Denzil A Harris; Karl Kieburtz
Journal:  JAMA Neurol       Date:  2015-05       Impact factor: 18.302

7.  Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions.

Authors:  Elsa Shapiro; Jessica Bernstein; Heather R Adams; Ann J Barbier; Teresa Buracchio; Peter Como; Kathleen A Delaney; Florian Eichler; Jonathan C Goldsmith; Melissa Hogan; Sarrit Kovacs; Jonathan W Mink; Joanne Odenkirchen; Melissa A Parisi; Alison Skrinar; Susan E Waisbren; Andrew E Mulberg
Journal:  Mol Genet Metab       Date:  2016-04-14       Impact factor: 4.797

8.  Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease): A Pilot Study of Feasibility and Reliability.

Authors:  Shayne N Ragbeer; Erika F Augustine; Jonathan W Mink; Alyssa R Thatcher; Amy E Vierhile; Heather R Adams
Journal:  J Child Neurol       Date:  2015-09-02       Impact factor: 1.987

Review 9.  Therapeutic landscape for Batten disease: current treatments and future prospects.

Authors:  Tyler B Johnson; Jacob T Cain; Katherine A White; Denia Ramirez-Montealegre; David A Pearce; Jill M Weimer
Journal:  Nat Rev Neurol       Date:  2019-03       Impact factor: 42.937

10.  Video research visits for atypical parkinsonian syndromes among Fox Trial Finder participants.

Authors:  Christopher G Tarolli; Grace A Zimmerman; Steven Goldenthal; Blake Feldman; Sarah Berk; Bernadette Siddiqi; Catherine M Kopil; Sohini Chowdhury; Kevin M Biglan; E Ray Dorsey; Jamie L Adams
Journal:  Neurol Clin Pract       Date:  2020-02
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.