Syringomyelia and Chiari Syndrome Registry: advances in epidemiology, clinical phenotypes and natural history based on a North Western Italy cohort.

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Abstract

Background. Syringomyelia and Chiari Syndrome are classified as rare diseases, but current known occurrence in Europe is missing. The increased ability to diagnose these pathologies by magnetic resonance imaging and its widespread availability has led to an increase of reported cases, often asymptomatic, with the need to standardize definitions, diagnostic criteria and treatments.
Aims. We present shared Interregional Recommendations developed with the primary aim to estimate Syringomyelia and Chiari Syndrome prevalence and incidence in North Western Italy, with special reference to symptomatic forms.
Methods. An agreement for the standardization of definitions, classifications, diagnostic criteria and surgical Recommendations was reached by the multidisciplinary Interregional Piemonte and Valle d’Aosta Chiari-Syringomyelia Consortium (Delphi method); next, in 2011 a census for Syringomyelia and Chiari Malformation was performed through the Interregional Piemonte and Valle d’Aosta Rare Disease Registry, integrated by a dedicated form in order to estimate prevalence and incidence.
Results. 436 patients, 292 females, met shared interregional diagnostic criteria. Syringomyelia prevalence was estimated in 4.84:100 000; Chiari Malformation prevalence was 7.74:100 000; incidence was 0.82:100 000 and 3.08:100 000 respectively. Demographics, neuroradiological parameters and aetiology were reported (in symptomatic and asymptomatic
forms). Finally, symptoms and signs, familiar and natural history were analyzed.
Conclusions. First Italian epidemiological data (prevalence, incidence) on Chiari and syringomyelia was collected, according to shared diagnostic Recommendations. Future perspectives include the adoption of these Recommendations at national level to standardize the access to diagnosis and care process and promote multicenter clinical trials.
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Authors

Palma Ciaramitaro - CRESSC, Centro Interregionale Siringomielia e Sindrome di Chiari, Dipartimento di Neuroscienze, Azienda Ospedaliero-Universitaria Citta della Salute e della Scienza di Torino, Torino http://orcid.org/0000-0002-7345-8691

Diego Garbossa - Neurochirurgia, Università di Torino, Torino

Paola Peretta - Neurochirurgia Pediatrica, Ospedale Infantile Regina Margherita, AOU Città della Salute e della Scienza di Torino

Gianluca Piatelli - Neurochirurgia, Istituto Giannina Gaslini, Genova

Luca Massimi - Neurochirurgia Pediatrica, Fondazione Ospedale Agostino Gemelli, Università Cattolica di Roma, Roma http://orcid.org/0000-0003-3088-0822

Laura Grazia Valentini - Neurochirurgia, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano http://orcid.org/0000-0002-0697-3247

Giuseppe Migliaretti - Dipartimento di Salute Pubblica e Microbiologia, Unità di Statistica, Università di Torino

Simone Baldovino - CMID, Centro di Coordinamento Rete Interregionale per le Malattie Rare del Piemonte e della Valle d’Aosta - San Giovanni Bosco Hospital and Dipartimento di Scienze Cliniche e Biologiche – Università di Torino

Dario Roccatello - CMID, Centro di Coordinamento Rete Interregionale per le Malattie Rare del Piemonte e della Valle d’Aosta - San Giovanni Bosco Hospital and Dipartimento di Scienze Cliniche e Biologiche – Università di Torino

Yllka Kodra - Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Roma

Domenica Taruscio - Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Roma

on behalf of the Interregional Chiari and Syringomyelia Consortium

How to Cite
Ciaramitaro, P., Garbossa, D., Peretta, P., Piatelli, G., Massimi, L., Valentini, L. G., Migliaretti, G., Baldovino, S., Roccatello, D., Kodra, Y., Taruscio, D., & Interregional Chiari and Syringomyelia Consortium, on behalf of the. (2020). Syringomyelia and Chiari Syndrome Registry: advances in epidemiology, clinical phenotypes and natural history based on a North Western Italy cohort. Annali dell’Istituto Superiore Di Sanità, 56(1), 48-58. Retrieved from https://annali.iss.it/index.php/anna/article/view/914
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