A brief compound test for assessment of autonomic and sensory-motor dysfunction in familial amyloid polyneuropathy.
BACKGROUND
Familial amyloid polyneuropathies (FAP) patients manifest progressive sensory-motor length dependent polyneuropathy and severe autonomic dysfunction. In this setting the autonomic manifestations include mainly postural hypotension, nausea and vomiting, diarrhea and constipation, sphincter distur- bances and erectile dysfunction. Reproducible quantitative evaluation of signs and symptoms are necessary for the assessment of treatment efficacy.


OBJECTIVE
To determine the reliability of a new compound test cumulating evaluation of autonomic and sensorymotor dysfunction in FAP.


METHODS
Compound Autonomic Dysfunction Test (CADT) is a new questionnaire to evaluate the main symptoms of autonomic dysfunction observed in FAP. A separate functional questionnaire assesses the disability due to the sensorymotor deficit (Modified Norris Test; MNT). The compound test takes approximately 10 minutes to perform. In this prospective study, we enrolled consecutively 60 FAP patients to test interexaminer reliability, i.e., both questionnaires rated independently by 2 examiners. We also evaluate the reliability of testing patients face to face and by phone call, by the same examiner.


RESULTS
Interexaminer reliabilities tested were high (ICC=0.92 for the CADT, p < 0.001; and ICC = 0.99 for the MNT, p < 0.001). In addition, testing by phone as compared to testing during the initial medical visit by the same investigator gave similar results (ICC = 0.91 for the CADT, p < 0.001; and ICC = 0.98 for the MNT, p < 0.001).


CONCLUSIONS
In FAP, the CADT and the MNT have good reliability inter-investigators as well as between face to face and by phone call, by the same examiner. This newly designed compound test is a simple and reproducible scale which is adapted to evaluate the main neuropathic manifestations and will be useful for assessment of future treatments in this condition.
Denier
C
C
Dept. of Neurology, Centre Hospitalier Universitaire de Bicêtre, Le Kremlin Bicêtre, France. christian.denier@bct.aphp.fr
Ducot
B
B
Husson
H
H
Lozeron
P
P
Adams
D
D
Meyer
L
L
Said
G
G
Planté-Bordeneuve
V
V
D000328:Adult; D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000150:complications* / Q000235:genetics; D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000209:etiology*; D005069:Evaluation Studies as Topic; D005260:Female; D006801:Humans; D007407:Interviews as Topic; D008297:Male; D008875:Middle Aged; D019957:Motor Skills Disorders / Q000175:diagnosis* / Q000209:etiology*; D011446:Prospective Studies; D011788:Quality of Life; D015203:Reproducibility of Results; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires