The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease.
CMT1A
Daily life
Hereditary neuropathy
Quality of life
Ranking approach
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
Jan 2022
Jan 2022
Historique:
received:
23
12
2020
accepted:
10
04
2021
pubmed:
27
4
2021
medline:
6
1
2022
entrez:
26
4
2021
Statut:
ppublish
Résumé
In Charcot-Marie-Tooth type 1A (CMT1A) patients, daily life is mainly influenced by mobility and ambulation dysfunctions. The aim of our work was to evaluate the perception of disturbances that mostly impact on daily life in CMT1A patients and its difference on the basis of age, gender, disability, and quality of life. Forty-one CMT1A patients underwent neurological assessment focused on establishing clinical disability through the Charcot-Marie-Tooth Neuropathy Score (CMTNS) and quality of life through the Short Form-36 (SF-36) questionnaire. We identified from CMT disturbances 5 categories [weakness in lower limbs (WLL), weakness in upper limbs (WUL), skeletal deformities (SD), sensory symptoms (SS), balance (B)] and patients classified the categories from the highest to the lowest impact on daily life (1: highest; 5: lowest). Ranking of the 5 categories, in the overall sample and in the different subgroups (dividing by gender, median of age and disease duration, CMTNS, domains of SF-36), was obtained and differences among subgroups were assessed using a bootstrap approach. Rank analysis showed that WLL was the most important disturbance on daily life whereas WUL had the lowest impact. In the older CMT1A group, the most important disturbance on daily life was B that was also the most relevant disturbance in patients with a greater disability. SD influenced daily life in younger patients. SS had less impact on daily life, with the exception of patients with a milder disability. Our findings demonstrated that the perception of disturbances that mostly impact on CMT1A patients' daily life changes over the lifetime and with degree of disability.
Identifiants
pubmed: 33899151
doi: 10.1007/s10072-021-05254-7
pii: 10.1007/s10072-021-05254-7
pmc: PMC8724072
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
559-563Informations de copyright
© 2021. The Author(s).
Références
Manganelli F, Tozza S, Pisciotta C, Bellone E, Iodice R, Nolano M, Geroldi A, Capponi S, Mandich P, Santoro L (2014) Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. J Peripher Nerv Syst 19(4):292–298
doi: 10.1111/jns.12092
Pareyson D, Marchesi C (2009) Natural history and treatment of peripheral inherited neuropathies. Adv Exp Med Biol 652:207–224
doi: 10.1007/978-90-481-2813-6_14
Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME (2000) Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 123:1516–1527
doi: 10.1093/brain/123.7.1516
Verhamme C, van Schaik IN, Koelman JH, de Haan RJ, Vermeulen M, de Visser M (2004) Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy IA. J Neurol 251(12):1491–1497
doi: 10.1007/s00415-004-0578-x
Manganelli F, Pisciotta C, Reilly MM, Tozza S, Schenone A, Fabrizi GM, Cavallaro T, Vita G, Padua L, Gemignani F, Laurà M, Hughes RA, Solari A, Pareyson D (2016) Santoro L; CMT-TRIAAL and CMT-TRAUK Group. Nerve conduction velocity in CMT1A: what else can we tell? Eur J Neurol 23(10):1566–1571
doi: 10.1111/ene.13079
Tozza S, Bruzzese D, Pisciotta C, Iodice R, Esposito M, Dubbioso R, Ruggiero L, Topa A, Spina E, Santoro L, Manganelli F (2018) Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1A patients. Eur J Neurol 25(2):301–306
doi: 10.1111/ene.13494
Johnson NE, Heatwole CR, Dilek N, Sowden J, Kirk CA, Shereff D, Shy ME (2014) Herrmann DN; Inherited Neuropathies Consortium. Quality-of-life in Charcot-Marie-Tooth disease: the patient’s perspective. Neuromuscul Disord 24(11):1018–1023
doi: 10.1016/j.nmd.2014.06.433
Padua L, Shy ME, Aprile I, Cavallaro T, Pareyson D, Quattrone A, Rizzuto N, Vita G, Tonali P, Schenone A (2008) Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A. J Peripher Nerv Syst 13(1):64–70
doi: 10.1111/j.1529-8027.2008.00159.x
Murphy SM, Herrmann DN, McDermott MP, Scherer SS, Shy ME, Reilly MM, Pareyson D (2011) Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst 16(3):191–198
doi: 10.1111/j.1529-8027.2011.00350.x
Padua L, Pareyson D, Aprile I, Cavallaro T, Quattrone A, Rizzuto N, Vita G, Tonali P, Schenone A (2008) Natural history of CMT1A including QoL: a 2-year prospective study. Neuromuscul Disord 18(3):199–203
doi: 10.1016/j.nmd.2007.11.008
D'Ambrosio A, Amodio S, Iorio C (2015) Two algorithms for finding optimal solutions of the Kemeny rank aggregation problem for full rankings. Electr J Appl Stat Anal 8(2):198–213
Pisciotta C, Shy ME (2018) Neuropathy. Handb Clin Neurol 148:653–665
doi: 10.1016/B978-0-444-64076-5.00042-9
Tozza S, Aceto MG, Pisciotta C, Bruzzese D, Iodice R, Santoro L, Manganelli F (2016) Postural instability in Charcot-Marie-Tooth 1A disease. Gait Posture 49:353–357
doi: 10.1016/j.gaitpost.2016.07.183
Lencioni T, Rabuffetti M, Piscosquito G, Pareyson D, Aiello A, Di Sipio E, Padua L, Stra F, Ferrarin M (2014) Postural stabilization and balance assessment in Charcot-Marie-Tooth 1A subjects. Gait Posture 40(4):481–486
doi: 10.1016/j.gaitpost.2014.07.006
Rossor AM, Murphy S, Reilly MM (2012) Knee bobbing in Charcot-Marie-Tooth disease. Pract Neurol 12(3):182–183
doi: 10.1136/practneurol-2011-000167
Sadjadi R, Reilly MM, Shy ME, Pareyson D, Laurà M, Murphy S, Feely SME, Grider T, Bacon, Piscosquito G, Calabrese D, Burns TD (2014) Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis. J Peripher Nerv Syst 19(3):192–196
doi: 10.1111/jns.12084
Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, Lewis RA, Li J, Lloyd TE, Moroni I, Muntoni F, Pagliano E, Pisciotta C, Piscosquito G, Ramchandren S, Saporta M, Sadjadi R, Shy RR, Siskind CE, Sumner CJ, Walk D, Wilcox J, Yum SW, Züchner S, Scherer SS, Pareyson D, Reilly MM, Shy ME (2020) Inherited Neuropathies Consortium-Rare Diseases Clinical Research Network (INC-RDCRN). A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology 94(9):e884–e896
doi: 10.1212/WNL.0000000000009035
Shy ME, Rose MR (2005) Charcot-Marie-Tooth disease impairs quality of life: why? And how do we improve it? Neurology 65:790–791