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An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean
Indexado
WoS WOS:000821711200001
Scopus SCOPUS_ID:85133718564
DOI 10.1007/S12311-022-01442-Z
Año 2023
Tipo artículo de investigación

Citas Totales

Autores Afiliación Chile

Instituciones Chile

% Participación
Internacional

Autores
Afiliación Extranjera

Instituciones
Extranjeras


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.

Revista



Revista ISSN
Cerebellum 1473-4222

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Disciplinas de Investigación



WOS
Neurosciences
Scopus
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SciELO
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Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional



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Autores - Afiliación



Ord. Autor Género Institución - País
1 Jardim, Laura B. Mujer Hospital de Clínicas de Porto Alegre - Brasil
Universidade Federal do Rio Grande do Sul - Brasil
Hosp Clin Porto Alegre - Brasil
Univ Fed Rio Grande do Sul - Brasil
2 Hasan, Ali - Universidade Federal do Rio Grande do Sul - Brasil
Univ Fed Rio Grande do Sul - Brasil
3 Kuo, Sheng han - Columbia University - Estados Unidos
Columbia Univ - Estados Unidos
4 Magana, Jonathan J. Hombre Instituto Nacional de Rehabilitación - México
Inst Nacl Rehabilitac LGII - México
Instituto Nacional de Rehabilitación – LGII - México
Instituto Nacional de Rehabilitación LGII - México
5 Franca, Marcondes C. - Universidade Estadual de Campinas - Brasil
UNIV ESTADUAL CAMPINAS - Brasil
6 Marques, Wilson Hombre Universidade de São Paulo - Brasil
UNIV SAO PAULO - Brasil
Universidade Federal de São Paulo - Brasil
7 Camejo, Claudia Mujer Private Clinics - Uruguay
Private Clin - Uruguay
8 Santana-da-Silva, Luiz Carlos - Universidade Federal do Pará - Brasil
Univ Fed Para - Brasil
Universidade Federal do Ceará - Brasil
9 Leão, Emília Embiruçu Mujer Singular Medicina de Precisão - Brasil
Singular Med Precisao - Brasil
10 Espíndola, Gisele - Universidade Federal de Santa Catarina - Brasil
UNIV FED SANTA CATARINA - Brasil
11 Canals, Francisca Mujer Clínica Alemana - Chile
12 MIRANDA-SALAS, MARCELO DAVID Hombre Fundación Diagnosis - Chile
Fdn Diag - Chile
13 Salvatierra, Igor Hombre Hospital Materno Infantil - Bolivia
Hosp Materno Infantil - Bolivia
14 Cornejo-Olivas, Mario Hombre Instituto Nacional de Ciencias Neurologicas - Perú
Inst Nacl Ciencias Neurol - Perú
15 Fernandez-Ruiz, Juan Hombre Universidad Nacional Autónoma de México, Facultad de Medicina - México
Univ Nacl Autonoma Mexico - México
16 Braga-Neto, Pedro Hombre Universidade Federal do Ceará - Brasil
Univ Fed Ceara - Brasil
17 Dávila-Ortiz de Montellano, David José Hombre Instituto Nacional de Neurología y Neurocirugía - México
Inst Nacl Neurol & Neurocirugia Manuel Velasco Su - México
18 Flores-Lagunes, Luis Leonardo Hombre Instituto Nacional de Medicina Genómica - México
Inst Nacl Med Genom - México
19 Dupré, Nicolas Hombre Université Laval, Faculté de médecine - Canadá
UNIV LAVAL - Canadá
20 Brais, Bernard Hombre Institut-Hôpital Neurologique de Montréal - Canadá
MCGILL UNIV - Canadá
21 Vargas, Fernando Regla Hombre Fundacao Oswaldo Cruz - Brasil
22 Godeiro, Clécio - Universidade Federal do Rio Grande do Norte - Brasil
Univ Fed Rio Grande do Norte - Brasil
Universidade Federal do Rio Grande do Sul - Brasil
23 Coutinho, Léo Hombre Universidade Federal do Paraná - Brasil
UNIV FED PARANA - Brasil
Universidade Federal do Ceará - Brasil
24 Teive, Helio G. Hombre Universidade Federal do Paraná - Brasil
UNIV FED PARANA - Brasil
Universidade Federal do Ceará - Brasil
25 Kauffman, Marcelo A. Hombre José María Ramos Mejía General Hospital - Argentina
Hosp Jose Ramos Mejia - Argentina
26 SAFFIE-AWAD, PAULA Mujer Centro de Trastornos del Movimiento - Chile
Ctr Estudios Trastornos Movimiento - Chile
Centro de trastornos del Movimiento (CETRAM) - Chile
27 Furtado, Gabriel Vasata Hombre Hospital de Clínicas de Porto Alegre - Brasil
Hosp Clin Porto Alegre - Brasil
28 Saraiva-Pereira, Maria Luiza Mujer Hospital de Clínicas de Porto Alegre - Brasil
Universidade Federal do Rio Grande do Sul - Brasil
Hosp Clin Porto Alegre - Brasil
Univ Fed Rio Grande do Sul - Brasil
29 Barsottini, Orlando Hombre Universidade Federal de São Paulo - Brasil
Univ Fed Estado Sao Paulo - Brasil
30 Pedroso, Jose Luiz Hombre Universidade Federal de São Paulo - Brasil
Univ Fed Estado Sao Paulo - Brasil
31 Rodríguez-Labrada, Roberto Hombre Cuban Centre for Neurosciences - Cuba
Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias, Cuba - Cuba
Cuban Ctr Neurosci - Cuba
Ctr Invest & Rehabilitac Ataxias Hereditaria - Cuba
Cuban Neurosciences Center - Cuba
32 Velázquez-Pérez, Luis Hombre Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias, Cuba - Cuba
Cuban Academy of Sciences - Cuba
Ctr Invest & Rehabilitac Ataxias Hereditaria - Cuba
Cuban Acad Sci - Cuba
33 Gomez, Christopher Hombre The University of Chicago - Estados Unidos
UNIV CHICAGO - Estados Unidos
34 PAHAN Corporación

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Financiamiento



Fuente
Conselho Nacional de Desenvolvimento Científico e Tecnológico
CNPq, Brazil
Ataxia Global Initiative
National Ataxia Foundation
Cuban Network of Hereditary Ataxias

Muestra la fuente de financiamiento declarada en la publicación.

Agradecimientos



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

Muestra la fuente de financiamiento declarada en la publicación.