Longitudinal Analysis of Oral Communication in Friedreich's Ataxia
Longitudinal Analysis of Oral Communication in Friedreich's Ataxia
Friedreich Ataxia (FA) is a hereditary neurological disease that is associated with a
 cerebellar syndrome and pyramidal symptoms. Clinical expression varies from one individual to
 another and throughout the evolution of the disease and is partially related to an abnormal
 expansion of the GAA triplet repeat in the frataxin gene. Dysarthria, a disorder in the motor
 production of speech, is always present in the clinical presentation of the disease (Schöls
 et al. 1997 ; Harding 1981 ; Dürr et al. 1996 ; Delatycki et al. 1999). It has been the
 subject of specific studies exploring the link between the evolution of dysarthria and
 disease progression (J. Folker et al. 2010; J. E. Folker et al. 2012; Rosen et al. 2012;
 Brendel et al. 2013). These studies allowed for the identification of markers for speech
 disintegration, specific to FA dysarthria, using perceptive voice measures, but also
 acoustics and objectives for qualifying voice and speech at the same time. The challenge is
 in finding measures sufficiently appropriate and sensitive to detect the evolution of these
 indicators throughout the course of the disease (Rosen et al. 2012). The neurological scales
 that take in to account all signs of a cerebellar syndrome are not sufficiently sensitive
 (Marelli et al. 2012). In addition, hearing difficulties develop during the course of the
 disease in addition to visual disturbances (gaze instability) which hinder communication. The
 ORFA study aims to evaluate oral communication in FA patients and identify appropriate
 measures that allow for the comparison of dysarthria pre and post-treatment in a clinical
 trial and can be used for the evaluation of efficacy.
The ORFA research study will depend partly on the EFACTS consortium (European Friedreich's
 Ataxia Consortium for Translational Studies) in which the French center ICM participates
 since 2011 (principal investigator Pr Alexandra Durr). The clinical registry EFACTS has
 included 604 FA patients to date who are followed annually with the goal of collecting
 clinical and biological information via a database. In Paris, 50 FA patients are followed and
 receive a complete evaluation at each visit: clinical evaluations, blood test, cardiac
 evaluation, and neuropsychological evaluation. In addition, ORFA will be closely linked with
 the CERMOI project, entitled "Integrated functional evaluation of the cerebellum" which will
 study visual motor disturbances in FA. This project received funding in 2014 through the
 IHU-A-ICM, Institute of translational and neuroscientific research which includes 4 research
 teams at the ICM. CERMOI will combine clinical examination, recording of ocular movements,
 vestibular testing, gait and posture tests.

 ORFA will enable to assess the difficulties in articulation and hearing in FA patients and
 correlate this data with clinical and biological data collected in EFACTS. 50 francophone FA
 patients will be followed for 2 visits with a one-year interval in between.
Inclusion Criteria:

 -  To have Friedreich's Ataxia.

 -  To be francophone

 -  Being a reader

 -  Agreeing to be part of a research protocol and longitudinal follow-up

 -  Agree to provide access to medical records

 Exclusion Criteria:

 -  Non-French speaking

 -  Psychiatric disorders