Muestra métricas de impacto externas asociadas a la publicación. Para mayor detalle:
| Indexado |
|
||||
| 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
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.
| 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 |
| Fuente |
|---|
| Conselho Nacional de Desenvolvimento Científico e Tecnológico |
| CNPq, Brazil |
| Ataxia Global Initiative |
| National Ataxia Foundation |
| Cuban Network of Hereditary Ataxias |
| 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. |