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An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean

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Abstract

Little is known about access of rare disease carriers to health care. To increase this knowledge, the Pan American Hereditary Ataxia Network (PAHAN) conducted an exploratory survey about care for hereditary ataxias in American continents and the Caribbean. A questionnaire was sent to health professionals about the hereditary ataxias identified; access to care; and local teaching and research. The number of ataxics under current care per 100,000 inhabitants was subtracted from the expected overall prevalence of 6/100,000, to estimate the prevalence of uncovered ataxic patients. Local Human Development Indexes (HDI) were used to measure socio-economic factors. Twenty-six sites participated. Twelve sites had very high, 13 had high, and one site had medium HDI. Participants reported on 2239 and 602 patients with spinocerebellar ataxias and recessive forms under current care. The number of patients under current care per inhabitants varied between 0.14 and 12/100,000. The estimated prevalence of uncovered ataxic patients was inversely proportional to HDIs (rho = 0.665, p = 0.003). Access to diagnosis, pre-symptomatic tests, and rehabilitation were associated with HDIs. More and better molecular diagnostic tools, protocols and guidelines, and professional training for ataxia care were the top priorities common to all respondents. Evidence of inequalities was confirmed. Lower HDIs were associated with high potential numbers of uncovered ataxic subjects, and with lack of molecular diagnosis, pre-symptomatic testing, and rehabilitation. More and better diagnostic tools, guidelines, and professional training were priorities to all sites. PAHAN consortium might help with the last two tasks.

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Data Availability

The data that support findings of this study are available from the corresponding author upon reasonable request.

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Acknowledgements

We are grateful to the National Ataxia Foundation (NAF) and the Ataxia Global Initiative (AGI) (https://ataxia-global-initiative.net/projects/pahan-survey/) for supporting the dissemination of this survey. We thank Dr. Paulo Ribeiro Nóbrega for helping with data from Ceará, and the Cuban Network of Hereditary Ataxias for its contribution to the survey. GVF, MLSP, and LBJ were supported by CNPq, Brazil.

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Authors and Affiliations

  1. Serviço de Genética Médica e Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2400, 90035-003, Porto Alegre, Brazil

    Laura Bannach Jardim, Gabriel Vasata Furtado & Maria Luiza Saraiva-Pereira

  2. Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2400, Porto Alegre, 90035-003, Brazil

    Laura Bannach Jardim & Ali Hasan

  3. Columbia University, 710 West 168th Street, New York, NY, 10032, USA

    Sheng-han Kuo

  4. Instituto Nacional de Rehabilitación – LGII, Calz México-Xochimilco 289, Coapa, Guadalupe Tlalpan, Tlalpan, 14389, Ciudad de México, CDMX, México

    Jonathan Javier Magaña

  5. Universidade Estadual de Campinas, Cidade Universitária Zeferino Vaz - Barão Geraldo, Campinas, SP, 13083-970, Brazil

    Marcondes França Jr

  6. Faculdade de Medicina, Universidade de São Paulo, R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto, SP, 14015-010, Brazil

    Wilson Marques Jr

  7. Private Clinics, Bvr. Artigas 1632, Montevideo, Uruguay

    Claudia Camejo

  8. Instituto de Ciências Biológicas da Universidade Federal do Pará, Av. Perimetral, 2-224 - Guamá, Belém, 66077-830, Brazil

    Luiz Carlos Santana-da-Silva

  9. Singular Medicina de Precisão, Rua Ewerton Visco, 290 - Sala 1301 - Caminho das Árvores, Salvador, 41820-022, Brazil

    Emília Embiruçu Leão

  10. Hospital Universitário Polydoro Ernani de São Thiago da Universidade Federal de Santa Catarina, R. Profa. Maria Flora Pausewang - Trindade, Florianópolis, 88036-800, Brazil

    Gisele Espíndola

  11. Clinica Alemana, Av Vitacura 5951, Vitacura, Santiago, Región Metropolitana, Chile

    Francisca Canals

  12. Fundacion Diagnosis, Antonio Varas 175 of 32, Providencia, Santiago, Chile

    Marcelo Miranda

  13. Hospital Materno Infantil, Clinica Los Andes, GR46+9V7, El Alto, Bolívia

    Igor Salvatierra

  14. Instituto Nacional de Ciencias Neurologicas, Jr. Ancash 1271, Cercado de Lima 15003, Lima, Peru

    Mario Cornejo-Olivas

  15. Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México, Circuito Interior de La Ciudad Universitaria, AV. Universidad 3000, 04510, Ciudad de México, México

    Juan Fernandez-Ruiz

  16. Departamento de Medicina Clínica, Universidade Federal Do Ceará, Rua Pro. Costa Mendes, 1608 - Bloco Didático, 4° andar – Rodolfo Teófilo, Fortaleza, Brazil

    Pedro Braga-Neto

  17. Instituto Nacional de Neurología Y Neurocirugía Manuel Velasco Suárez, Av. Insurgentes Sur 3877, La Fama, Tlalpan, 14269, Ciudad de México, Mexico

    David José Dávila-Ortiz de Montellano

  18. Instituto Nacional de Medicina Genómica, Periférico Sur 4809, Arenal Tepepan, Tlalpan, 14610, Ciudad de México, Mexico

    Luis Leonardo Flores-Lagunes

  19. Department of Medicine, Faculty of Medicine, Université Laval, Ferdinand Vandry Pavillon, 1050 Av. de la Médecine, Quebec City, Quebec, G1V 0A6, Canada

    Nicolas Dupré

  20. Departments of Neurology and Neurosurgery and Human Genetics, Montreal Neurological Institute-Hospital, Faculty of Medicine, McGill University, University Street, Montreal, Quebec, 3801H3A 2B4, Canada

    Bernard Brais

  21. Laboratório de Epidemiologia de Malformações Congênitas, Fundação Oswaldo Cruz, Avenida Brasil 4365, Manguinhos, Rio de Janeiro, 21040-360, Brazil

    Fernando Regla Vargas

  22. Universidade Federal do Rio Grande do Norte, Campus Universitário - Lagoa Nova, Natal, 59078-970, Brazil

    Clécio Godeiro

  23. Hospital das Clínicas da Universidade Federal do Paraná, R. Gen. Carneiro, 181 - Alto da Glória, Curitiba, 80060-900, Brazil

    Léo Coutinho & Helio G. Teive

  24. Neurogenetics Unit, Hospital Jose Ramos Mejia, Gral. Urquiza 609, C1221 ADC, Buenos Aires, Argentina

    Marcelo Kaufmann

  25. Centro de Estudios de Trastornos del Movimiento, Avenida José Joaquín Prieto Vial #7271, Santiago, Chile

    Paula Saffie

  26. Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Prédio Anexo, Porto Alegre, 90035-003, Brazil

    Maria Luiza Saraiva-Pereira

  27. Universidade Federal do Estado de São Paulo, R. Napoleão de Barros, 715 - Vila Clementino, São Paulo, São Paulo, Brasil

    Orlando Barsottini & José Luiz Pedroso

  28. Cuban Centre for Neurosciences, 190st number 19818 between 27th and 27th, 11600, Playa, Havana, Cuba

    Roberto Rodríguez-Labrada

  29. Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias, Libertad Street number 26, between 12th and 16th, 80100, Holguin, Cuba

    Roberto Rodríguez-Labrada & Luis Velázquez-Pérez

  30. Cuban Academy of Sciences, Cuba St Number 460 Between Teniente Rey and Amargura. Habana Vieja, 10100, Havana, Cuba

    Luis Velázquez-Pérez

  31. University of Chicago, 5758 S Maryland Ave, Chicago, IL, 60637, USA

    Christopher Gomez

Authors
  1. Laura Bannach Jardim
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  2. Ali Hasan
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  3. Sheng-han Kuo
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  4. Jonathan Javier Magaña
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  5. Marcondes França Jr
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  6. Wilson Marques Jr
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  7. Claudia Camejo
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  8. Luiz Carlos Santana-da-Silva
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  9. Emília Embiruçu Leão
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  10. Gisele Espíndola
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  11. Francisca Canals
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  12. Marcelo Miranda
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  13. Igor Salvatierra
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  14. Mario Cornejo-Olivas
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  15. Juan Fernandez-Ruiz
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  16. Pedro Braga-Neto
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  17. David José Dávila-Ortiz de Montellano
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  18. Luis Leonardo Flores-Lagunes
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  19. Nicolas Dupré
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  20. Bernard Brais
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  24. Helio G. Teive
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  29. Orlando Barsottini
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  30. José Luiz Pedroso
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Consortia

On behalf of the PAHAN

Contributions

LBJ, AH, ShK, JJM, JFR, JLP, RRL, LVP, and CG contributed to the conception and design of the study; LBJ, AH, ShK, JJM, MFJ, WMJ, CC, LCSS, EEL, GE, FC, MM, IS, MCO, PBN, DJDOM, LLFL, ND, BB, FRV, CG, LC, HGT, MK, PS, MLSP, OB, JLP, RRL, LVP, and CG contributed to the acquisition and analysis of data; LBJ, GVF, and MLSP contributed to drafting the text and preparing the figures; LBJ, AH, ShK, JJM, MFJ, WMJ, CC, LCSS, EEL, GE, FC, MM, IS, MCO, JFR, PBN, DJDOM, LLFL, ND, BB, FRV, CG, LC, HGT, MK, PS, GVF, MLSP, OB, JLP, RRL, LVP, and CG reviewed and approved the manuscript.

Corresponding author

Correspondence to Laura Bannach Jardim.

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Supplementary Information

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Supplementary file1 (PDF 902 kb) Supplemental Material 1 - Pahan questionnaire, English version.

12311_2022_1442_MOESM2_ESM.docx

Supplementary file2 (DOCX 101 kb) Supplemental Material 2 - Supplemental results: Table S1 - General characteristics of all participant sites in the present survey. Table S2 - Total number of ataxic patients with specific diagnoses reported to have been followed up in the last 20 years, per site. Table S3 - Total number of families with inherited ataxias reported to have been followed up in the last 20 years, per site. Table S4 - Rank of priorities to improve the health care of ataxic persons, according to the opinion of the respondents.

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Jardim, L.B., Hasan, A., Kuo, Sh. et al. An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean. Cerebellum 22, 708–718 (2023). https://doi.org/10.1007/s12311-022-01442-z

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