Francesco Gavazzi1, Laura Adang2, Amy Waldman3, Amanda K Jan3, Geraldine Liu3, Scott A Lorch4, Sara B DeMauro4, Justine Shults5, Samuel R Pierce6, Elizabeth Ballance6, Tracy Kornafel6, Ann Harrington6, Allan M Glanzman6, Adeline Vanderver2. 1. Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy. Electronic address: gavazzif@chop.edu. 2. Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. 3. Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. 4. Department of Neonatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. 5. Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. 6. Departmen of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Abstract
BACKGROUND: Leukodystrophies are a rare class of disorders characterized by severe neuromotor disability. There is a strong need for research regarding the functional status of people with leukodystrophy which is limited by the need for in-person assessments of mobility. The purpose of this study is to assess the reliability of the Gross Motor Function Measure-88 (GMFM-88) using telemedicine compared with standard in-person assessments in patients with leukodystrophy. METHODS: A total of 21 subjects with a diagnosis of leukodystrophy (age range = 1.79-52.82 years) were evaluated by in-person and by telemedicine evaluations with the GMFM-88 by physical therapists. Inter-rater reliability was assessed through evaluation of the same subject by two independent raters within a three-week period (n = 10 encounters), and intrarater reliability was assessed through blinded rescoring of video-recorded assessments after a one-week time interval (n = 6 encounters). RESULTS: Remote assessments were performed by caregivers in all 21 subjects using resources found in the home with remote guidance. There was agreement between all paired in-person and remote measurements (Lin's concordance correlation ≥0.995). The Bland-Altman analysis indicated that the paired differences were within ±5%. Intrarater and inter-rater reliability demonstrated an intraclass correlation coefficient of >0.90. CONCLUSIONS: These results support that remote application of the GMFM-88 is a feasible and reliable approach to assess individuals with leukodystrophy. Telemedicine application of outcome measures may be of particular value in rare diseases and those with severe neurologic disability that impacts the ability to travel.
BACKGROUND: Leukodystrophies are a rare class of disorders characterized by severe neuromotor disability. There is a strong need for research regarding the functional status of people with leukodystrophy which is limited by the need for in-person assessments of mobility. The purpose of this study is to assess the reliability of the Gross Motor Function Measure-88 (GMFM-88) using telemedicine compared with standard in-person assessments in patients with leukodystrophy. METHODS: A total of 21 subjects with a diagnosis of leukodystrophy (age range = 1.79-52.82 years) were evaluated by in-person and by telemedicine evaluations with the GMFM-88 by physical therapists. Inter-rater reliability was assessed through evaluation of the same subject by two independent raters within a three-week period (n = 10 encounters), and intrarater reliability was assessed through blinded rescoring of video-recorded assessments after a one-week time interval (n = 6 encounters). RESULTS: Remote assessments were performed by caregivers in all 21 subjects using resources found in the home with remote guidance. There was agreement between all paired in-person and remote measurements (Lin's concordance correlation ≥0.995). The Bland-Altman analysis indicated that the paired differences were within ±5%. Intrarater and inter-rater reliability demonstrated an intraclass correlation coefficient of >0.90. CONCLUSIONS: These results support that remote application of the GMFM-88 is a feasible and reliable approach to assess individuals with leukodystrophy. Telemedicine application of outcome measures may be of particular value in rare diseases and those with severe neurologic disability that impacts the ability to travel.
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Authors: Laurence Gauquelin; Ferdy K Cayami; László Sztriha; Grace Yoon; Luan T Tran; Kether Guerrero; François Hocke; Rosalina M L van Spaendonk; Eva L Fung; Stefano D'Arrigo; Gessica Vasco; Isabelle Thiffault; Dmitriy M Niyazov; Richard Person; Kara Stuart Lewis; Evangeline Wassmer; Trine Prescott; Penny Fallon; Meriel McEntagart; Julia Rankin; Richard Webster; Heike Philippi; Bart van de Warrenburg; Dagmar Timmann; Abhijit Dixit; Claire Searle; Nivedita Thakur; Michael C Kruer; Suvasini Sharma; Adeline Vanderver; Davide Tonduti; Marjo S van der Knaap; Enrico Bertini; Cyril Goizet; Sébastien Fribourg; Nicole I Wolf; Geneviève Bernard Journal: Neurol Genet Date: 2019-10-30