PAHAN survey on the care for ataxics in the Americas and the Caribbean
From the Pan-American Hereditary Ataxia Network
This survey is an initiative of PAHAN (https://pan-american-hereditary-ataxia-network-pahan7.webnode.com/). We are sending it to health professionals who care for ataxics in American countries, especially from Latin America. Our goals are to help define (1) the approximate number of ataxics already identified in our countries, (2) the access that our populations have to diagnostic, genetic counseling, pre-symptomatic testing and rehabilitation facilities related to inherited ataxias, and their cost coverage; (3) if there are any health policies set for identification and prevention, diagnosis and early intervention; (4) the availability of training courses (residency, fellowships, etc) in HA for health professionals; and (5) how is the support to local clinical and experimental research on hereditary ataxias. With this, we intend to approach all professionals involved with these conditions in our countries, so that together we can prepare a general diagnostic framework and a set of recommendations on how to improve the care of hereditary ataxia in our communities. Please feel free to choose the questions below. You will see that none are mandatory and that there are different types of questions, so you can choose the ones that are easier to be answered, according to your context. We are very grateful for your time and your participation in this poll.
Laura Bannach Jardim, UFRGS, Brazil; Christopher Gomez, University of Chicago, USA; Jonathan Javier Magaña Aguirre, INRLGI, Mexico; Roberto Rodríguez-Labrada, CIRAH, Cuba; Sheng-Han Kuo, University of Columbia, USA; José Luiz Pedroso, UNIFESP, Brazil; Juan Fernandez Ruiz, UNAM, Mexico; Luis Velázquez-Pérez, Cuban Academy of Sciences, Cuba, and PAHAN chair
Name
First name
Surname (last name)
E-mail
exemplo@exemplo.com
Professional address (institution or private clinic)
first line: name of the institution, if suitable
second line: street address
City
Country
ZIP code
Phone Number (Country, Province, Number)
WhatsApp (if you wish to be included)
for a whatsApp group
Do you want to become a provisional member of PAHAN? As soon as possible, we will hold a debate on the topic.
Yes
Not yet
You are
a neurologist
a clinical geneticist
other doctor (physician)
a genetic counselor
a professional in the laboratory diagnosis of inherited ataxias
a rehabilitation professional
a nurse
a social worker
other
Former
Next
Your answers to this survey will tell about your experience
in a public service (public health system). You will be the only respondent about your service
in a public service (public health system). It is possible that other colleagues of mine will respond to this survey based on our common experience.
in your private clinic (including health insurance patients). You will be the only respondent about your clinics
in your private clinic (including health insurance patients). It is possible that other colleagues of mine will respond to this survey based on our common experience.
How many cases of ataxia are in your current care?
Number of individuals
Number of families
SCAs (autosomal dominant cerebellar ataxias)
Isolated/sporadic ataxic cases, or clearly autosomal recessive ataxias
non-genetic ataxias
Can you better define your current cases?
Number of individuals
Number of families
SCA1
SCA2
SCA3/MJD
SCA6
SCA7
SCA8
SCA10
SCA12
SCA17
DRPLA
SCA21
SCA36
Friedreich ataxia
Ataxia-telangiectasia
AOA1
AOA2
AOA3
AOA4
ARSACS
CANVAS
Another hereditary ataxia?
The above data are
approximated values
exact values, obtained from a local survey
How many cases of ataxia you followed throughout your clinical practice, in the last 20 or less years?
Number of individuals
Number of families
SCAs (autosomal dominant cerebellar ataxias)
i
solated/sporadic ataxic cases, or clearly autosomal recessive ataxias
non-genetic ataxias
Can you better define the ataxia cases you followed throughout your clinical practice?
Number of individuals
Number of families
SCA1
SCA2
SCA3/MJD
SCA6
SCA7
SCA8
SCA10
SCA12
SCA17
DRPLA
SCA21
SCA36
Friedreich ataxia
Ataxia-telangiectasia
AOA1
AOA2
AOA3
AOA4
ARSACS
CANVAS
Another hereditary ataxia?
The above data are
approximated values
exact values, obtained from a local survey
Former
Next
You and your patients have access to
Directly available in public service
Available in public service only under court order (judicialization)
Available in the private sector (health insurance included)
We do not have access to it
Panels for expanded repeat ataxias
Panels for ataxias (point mutations, frameshift, etc)
NGS panel for ataxias
Exome sequencing
Genome sequencing
Check what additional assessments or exams you have available to include in the diagnostic work up for ataxia
Directly available in public service
Available in public service only under court order (judicialization)
Available in the private sector (health insurance included)
We do not have access to it.
Brain MRI
Spinal cord MRI
CT Scan
Peripheral conduction studies (electroneuromyography)
Evoked potentials
Vitamin E in plasma
Alpha-fetoprotein
Optical coherence tomography (OCT)
Conventional ophthalmic evaluation - with fundoscopy and slit lamp
Evaluation of peripheral smear by hematologist (acanthocytes)
Abdominal imaging
Lysosomal enzymes in leukocytes and plasma
Ceruloplasmin
Copper, 24h urine
Amino acids in blood or urine
Organic acids in urine
TSH
B12
anti-HIV
anti-HTLV1
Jejunum biopsy (for Whipple)
Anti-transglutaminase IgA
Quitotriosidase
Oxysterols
Filipin in fibroblasts' culture
Do you or your workgroup have access to a clinical protocol for ataxias with therapeutic guidelines?
Yes, we follow an evidence-based protocol built after public consultation by the country's health authority.
Yes, we follow a protocol built by our local institution
No
After diagnosis, do the patient and her/his family have access to genetic counseling sessions?
Yes
No
After the diagnosis of the index case, do other family members have access to pre-symptomatic tests?
Yes
No
The genetic counseling sessions are performed
in the public health system
in private clinics
The genetic counseling sessions are performed
by a multidisciplinary team
by the same doctor who take care of diagnosis
Do you want to comment about the above issues?
What rehabilitation services are available for ataxics in your community?
Public Health System
private health clinics
We do not have access to it
physical therapy
speech therapy
occupational therapy
Former
Next
How do you rate the availability of the following care for your ataxic patients:
Adequate
Limited by scarcity of professionals or structure
Unavailable
Clinical diagnosis and follow-up visits
Laboratory work up
Genetic Counseling
Physical therapy
Speech therapy
Occupational therapy
What molecular studies are performed in your laboratory/institution?
Funded by the public health system
Private service (including health insurance)
No available in our institution
SCA1
SCA2
SCA3/MJD
SCA6
SCA7
SCA8
SCA10
SCA12
SCA17
DRPLA
FRDA
ATM
AOA1
AOA2
AOA3
AOA4
ARSACS
CANVAS
NGS panel
Exome sequencing
Genome sequencing
Another molecular analysis?
Former
Next
Do you supervise students in research activities related to ataxia projects?
The state pays for the student's education
The student pays for their education
undergraduate students
MSc students
PhD students
Post-doc students
Please check if you are conducting research project(s) on the following subjects related to hereditary ataxias
Clinical studies (on human data), with public funding
Clinical studies, sponsored by corporations/private companies
Experimental studies in cells or other models,
with public funding
Experimental studies in cells or other models,
sponsored by corporations/private companies
SCA1
SCA2
SCA3/MJD
SCA6
SCA7
SCA8
SCA10
Other SCAs
Friedreich ataxia
Ataxia-telangiectasia or any AOA
ARSACS
CANVAS
Other
Another subject under your research lines related to ataxia?
In your opinion, what must be improved in your state or country for the care of ataxic people? Number from 1 to 10 in order of priority. You need more and better:
Priority
Doctors
GC professionals
Rehabilitation professionals
Molecular tests
MRI
Clinical protocols and therapeutic guidelines
Physical infrastructure for clinical care
Physical infrastructure for rehabilitation
Funding for local scientific research
Professional training
We intend to present the results of this survey to all participants by email, and also to health authorities in each region. If the results are robust, they might result in scientific communications as well. We thank you again for your participation.
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