Andreea Nissenkorn1, Rupam Borgohain2, Roberto Micheli3, Vincenzo Leuzzi4, Anaita Udwadia Hegde5, Kandadai Rukmini Mridula2, Anna Molinaro3, Daniela D'Agnano4, Sireesha Yareeda2, Bruria Ben-Zeev6. 1. Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, Ramat Gan, Israel; The Service for Rare Diseases, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: andreea.nissenkorn@sheba.health.gov.il. 2. Department Neurology, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, India. 3. Unit of Child Neurology and Psychiatry, Spedali Civili, Brescia, Italy. 4. Department of Pediatrics, Child Neurology and Psychiatry, University of Rome "La Sapienza", Italy. 5. Pediatric Neurology, Jaslok Hospital and Research Center, Breach Candy Hospital Trust, Bai Jerbai Wadia Hospital for Children, Mumbai, India. 6. Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Abstract
INTRODUCTION: Ataxia telangiectasia (AT) is a neurodegenerative disorder with cerebellar and extrapyramidal features. Interventional and epidemiological studies in AT should rely on specific scales which encompass the specific neurological features, as well the early progressive course and the subsequent plateau. The aim of this study was to build a scale of the CGI type (Clinical Global Impression) which is disease specific, as well as to check the feasibility of the ICARS scale for ataxia in this population. METHODS: We recruited 63 patients with ataxia, aged 10.76 ± 3.2 years, followed at 6 international AT centers, 49 of them (77.8%) with classical AT. All patients were evaluated for ataxia with ICARS scale. In patients with AT, two CGI scales were scored, unstructured as structured for which separate anchors were provided. RESULTS: Mean ICARS score was 44.7 ± 20.52, and it's severity positively correlated with age (Spearman correlation, r = 0.46, p < 0.01). Mean CGI score was 2 (moderately involved). There was a high correlation between the structured and unstructured CGIs (Spearman correlation, r = 0.87, p < 0.01). Both CGI scales showed positive correlation between severity and increasing age (Spearman correlation r = 0.59, p < 0.01 for structured CGI and r = 0.61, p < 0.01 for unstructured). DISCUSSION: We succeeded to build two CGI scales: structured and unstructured, which are disease specific for AT. The unstructured scale showed better connection to disease course; the sensitivity of the unstructured scale could be improved by adding anchors related to extrapyramidal features. In addition we showed that ataxia can be reliably measured in children with AT by using ICARS.
INTRODUCTION:Ataxia telangiectasia (AT) is a neurodegenerative disorder with cerebellar and extrapyramidal features. Interventional and epidemiological studies in AT should rely on specific scales which encompass the specific neurological features, as well the early progressive course and the subsequent plateau. The aim of this study was to build a scale of the CGI type (Clinical Global Impression) which is disease specific, as well as to check the feasibility of the ICARS scale for ataxia in this population. METHODS: We recruited 63 patients with ataxia, aged 10.76 ± 3.2 years, followed at 6 international AT centers, 49 of them (77.8%) with classical AT. All patients were evaluated for ataxia with ICARS scale. In patients with AT, two CGI scales were scored, unstructured as structured for which separate anchors were provided. RESULTS: Mean ICARS score was 44.7 ± 20.52, and it's severity positively correlated with age (Spearman correlation, r = 0.46, p < 0.01). Mean CGI score was 2 (moderately involved). There was a high correlation between the structured and unstructured CGIs (Spearman correlation, r = 0.87, p < 0.01). Both CGI scales showed positive correlation between severity and increasing age (Spearman correlation r = 0.59, p < 0.01 for structured CGI and r = 0.61, p < 0.01 for unstructured). DISCUSSION: We succeeded to build two CGI scales: structured and unstructured, which are disease specific for AT. The unstructured scale showed better connection to disease course; the sensitivity of the unstructured scale could be improved by adding anchors related to extrapyramidal features. In addition we showed that ataxia can be reliably measured in children with AT by using ICARS.
Authors: Joan Busner; Gahan Pandina; SilviaZaragoza Domingo; Anna-Karin Berger; Maria T Acosta; Nahome Fisseha; Joseph Horrigan; Jelena Ivkovic; William Jacobson; Dennis Revicki; Victoria Villalta-Gil Journal: Innov Clin Neurosci Date: 2021 Oct-Dec