Rick Brandsma1, Tjitske F Lawerman1, Marieke J Kuiper1, Roelineke J Lunsing1, Huibert Burger2, Deborah A Sival3. 1. Department of Neurology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. 2. Department of General Practice, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. 3. Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Abstract
AIM: To determine whether ataxia rating scales are reliable disease biomarkers for early onset ataxia (EOA). METHOD: In 40 patients clinically identified with EOA (28 males, 12 females; mean age 15y 3mo [range 5-34y]), we determined interobserver and intraobserver agreement (interclass correlation coefficient [ICC]) and discriminant validity of ataxia rating scales (International Cooperative Ataxia Rating Scale [ICARS], Scale for Assessment and Rating of Ataxia [SARA], and Brief Ataxia Rating Scale [BARS]). Three paediatric neurologists independently scored ICARS, SARA and BARS performances recorded on video, and also phenotyped the primary and secondary movement disorder features. When ataxia was the primary movement disorder feature, we assigned patients to the subgroup 'EOA with core ataxia' (n=26). When ataxia concurred with other prevailing movement disorders (such as dystonia, myoclonus, and chorea), we assigned patients to the subgroup 'EOA with comorbid ataxia' (n=12). RESULTS: ICC values were similar in both EOA subgroups of 'core' and 'comorbid' ataxia (0.92-0.99; ICARS, SARA, and BARS). Independent of the phenotype, the severity of the prevailing movement disorder predicted the ataxia rating scale scores (β=0.83-0.88; p<0.05). INTERPRETATION: In patients with EOA, the reliability of ataxia rating scales is high. However, the discriminative validity for 'ataxia' is low. For adequate interpretation of ataxia rating scale scores, application in uniform movement disorder phenotypes is essential.
AIM: To determine whether ataxia rating scales are reliable disease biomarkers for early onset ataxia (EOA). METHOD: In 40 patients clinically identified with EOA (28 males, 12 females; mean age 15y 3mo [range 5-34y]), we determined interobserver and intraobserver agreement (interclass correlation coefficient [ICC]) and discriminant validity of ataxia rating scales (International Cooperative Ataxia Rating Scale [ICARS], Scale for Assessment and Rating of Ataxia [SARA], and Brief Ataxia Rating Scale [BARS]). Three paediatric neurologists independently scored ICARS, SARA and BARS performances recorded on video, and also phenotyped the primary and secondary movement disorder features. When ataxia was the primary movement disorder feature, we assigned patients to the subgroup 'EOA with core ataxia' (n=26). When ataxia concurred with other prevailing movement disorders (such as dystonia, myoclonus, and chorea), we assigned patients to the subgroup 'EOA with comorbid ataxia' (n=12). RESULTS: ICC values were similar in both EOA subgroups of 'core' and 'comorbid' ataxia (0.92-0.99; ICARS, SARA, and BARS). Independent of the phenotype, the severity of the prevailing movement disorder predicted the ataxia rating scale scores (β=0.83-0.88; p<0.05). INTERPRETATION: In patients with EOA, the reliability of ataxia rating scales is high. However, the discriminative validity for 'ataxia' is low. For adequate interpretation of ataxia rating scale scores, application in uniform movement disorder phenotypes is essential.
Authors: Juan Sebastian Martin-Saavedra; Sara Reis Teixeira; Cesar Augusto Pinheiro Ferreira Alves; Fabrício Guimarães Gonçalves; Luis Octavio Tierradentro-García; Martin Kidd; Colleen Muraresku; Amy Goldstein; Arastoo Vossough Journal: Cerebellum Date: 2021-05-30 Impact factor: 3.847
Authors: Tjitske F Lawerman; Rick Brandsma; Renate J Verbeek; Johannes H van der Hoeven; Roelineke J Lunsing; Hubertus P H Kremer; Deborah A Sival Journal: Front Hum Neurosci Date: 2017-12-13 Impact factor: 3.169
Authors: Deborah A Sival; Martinica Garofalo; Rick Brandsma; Tom A Bokkers; Marloes van den Berg; Tom J de Koning; Marina A J Tijssen; Dineke S Verbeek Journal: Diagnostics (Basel) Date: 2020-11-24
Authors: Stefanie J G Veenhuis; Nienke J H van Os; Anjo J W M Janssen; Marjo H J C van Gerven; Karlien L M Coene; Udo F H Engelke; Ron A Wevers; Gerjen H Tinnevelt; Rob Ter Heine; Bart P C van de Warrenburg; Corry M R Weemaes; Nel Roeleveld; Michèl A A P Willemsen Journal: Mov Disord Date: 2021-09-13 Impact factor: 9.698
Authors: Tjitske F Lawerman; Rick Brandsma; Natalia M Maurits; Octavio Martinez-Manzanera; Corien C Verschuuren-Bemelmans; Roelineke J Lunsing; Oebo F Brouwer; Hubertus Ph Kremer; Deborah A Sival Journal: Dev Med Child Neurol Date: 2019-09-17 Impact factor: 5.449