The facioscapulohumeral muscular dystrophy – health index: Italian validation of a disease-specific measure of symptomatic burden

References

• Eggers S, Passos-Bueno MR, Zatz M. Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness. J Med Genet. 1993;30(7):589–592.
   PubMed Web of Science ®Google Scholar
• De Simone AM, Pakula A, Lek A, et al. Facioscapulohumeral muscular dystrophy. Compr Physiol. 2017;7:1229–1279.
   PubMed Web of Science ®Google Scholar
• Mostacciuolo ML, Pastorello E, Vazza G, et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a North-east italian population sample. Clin Genet. 2009;75(6):550–555.
   PubMed Web of Science ®Google Scholar
• Flanigan KM, Coffeen CM, Sexton L, et al. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord. 2001;11(6–7):525–529.
   PubMed Web of Science ®Google Scholar
• Bakker M, Schipper K, Geurts CA, et al. It’s not just physical: a qualitative study regarding the illness experiences of people with facioscapulohumeral muscular dystrophy. Disabil Rehabil. 2017;39(10):978–986.
   PubMed Web of Science ®Google Scholar
• Guy-Coichard C, Nguyen DT, Delorme T, et al. Pain in hereditary neuromuscular disorders and myasthenia gravis: a national survey of frequency, characteristics, and impact. J Pain Symptom Manage. 2008;35(1):40–50.
   PubMed Web of Science ®Google Scholar
• Jensen MP, Hoffman AJ, Stoelb BL, et al. Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy. Arch Phys Med Rehabil. 2008;89(2):320–328.
   PubMed Web of Science ®Google Scholar
• Padua L, Aprile I, Frusciante R, et al. Quality of life and pain in patients with facioscapulohumeral muscular dystrophy. Muscle Nerve. 2009;40(2):200–205.
   PubMed Web of Science ®Google Scholar
• Johnson NE, Quinn C, Eastwood E, et al. Patient-identified disease burden in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2012;46(6):951–953.
   PubMed Web of Science ®Google Scholar
• Wang LH, Tawil R. Current therapeutic approaches in FSHD. J Neuromuscul Dis. 2021;8(3):441–451.
   PubMedGoogle Scholar
• Ghasemi M, Emerson CP, Jr, Hayward LJ. Outcome measures in facioscapulohumeral muscular dystrophy clinical trials. Cells. 2022;11(4):687.
   PubMed Web of Science ®Google Scholar
• U.S. Department of Health and Human Services Food and Drug Administration Center for Drug Evaluation and Research (CDER), Center for Biologics Evaluation and Research (CBER), Center for devices and radiological health (CDRH). Guidance for industry patient-reported outcome measures: use in medical product development to support labeling claims, https://www.fda.gov/regulatory-information/search-fda-guidance-documents/patient-reported-outcome-measures-use-medical-product-development-support-labeling-claims. 2009.
   Google Scholar
• LoRusso S, Johnson NE, McDermott MP, et al. Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study. BMC Neurol. 2019;19(1):224.
   PubMed Web of Science ®Google Scholar
• Hamel J, Johnson N, Tawil R, et al. Patient-reported symptoms in facioscapulohumeral muscular dystrophy (PRISM-FSHD). Neurol. 2019;93(12):e1180-92–e1192.
   Web of Science ®Google Scholar
• Mul K, Kinoshita J, Dawkins H, et al. 225th ENMC international workshop: a global FSHD registry framework, 18–20 november 2016, heemskerk, The Netherlands. Neuromuscul Disord. 2017;27(8):782–790.
   PubMed Web of Science ®Google Scholar
• University of Rochester. UR Ventures, https://www.rochester.edu/ventures/.
   Google Scholar
• de Valle K, Dobson F, Woodcock I, et al. Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy. Neuromuscul Disord. 2021;31(8):706–715.
   PubMed Web of Science ®Google Scholar
• Vera KA, McConville M, Kyba M, et al. Sarcopenic obesity in facioscapulohumeral muscular dystrophy. Front Physiol. 2020;11:1008.
   PubMed Web of Science ®Google Scholar
• Vera KA, McConville M, Glazos A, et al. Exercise intolerance in facioscapulohumeral muscular dystrophy. Med Sci Sports Exerc. 2022;54(6):887–895.
   PubMed Web of Science ®Google Scholar
• Beaton DE, Bombardier C, Guillemin F, et al. Guidelines for the process of cross-cultural adaptation of self-report measures. Spine (Phila Pa 1976). 2000;25(24):3186–3191.
   PubMed Web of Science ®Google Scholar
• Personius K, Pandya S, King W, et al. Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. Phys Ther. 1994;74(3):253–263.
   PubMed Web of Science ®Google Scholar
• Innes E. Handgrip strength testing: a review of the literature. Aust Occ Ther J. 1999;46(3):120–140.
   Google Scholar
• Statland JM, McDermott MP, Heatwole C, et al. Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2013;23(4):306–312.
   PubMed Web of Science ®Google Scholar
• Amatachaya S, Kwanmongkolthong M, Thongjumroon A, et al. Influence of timing protocols and distance covered on the outcomes of the 10-meter walk test. Physiother Theory Pract. 2020;36(12):1348–1353.
   PubMed Web of Science ®Google Scholar
• Lamperti C, Fabbri G, Vercelli L, et al. A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: the FSHD clinical score. Muscle Nerve. 2010;42(2):213–217.
   PubMed Web of Science ®Google Scholar
• Wall JC, Rowe PJ. Assessment of ascending and descending stairs: how many stairs are required? In Proceedings of the XIX Conference of International Society for Posture and Gait Research. 2009;p.348.
   Google Scholar
• Bohannon RW. Sit-to-stand test for measuring performance of lower extremity muscles. Percept Mot Skills. 1995; Feb80(1):163–166. https://doi.org/10.2466/pms.1995.80.1.163.
   PubMed Web of Science ®Google Scholar
• Bohannon RW. Reference values for the timed up and go test: a descriptive meta-analysis. J Geriatr Phys Ther. 2006;29(2):64–68.
   PubMedGoogle Scholar
• Eichinger K, Heatwole C, Heininger S, et al. Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2017;55(3):333–337.
   PubMed Web of Science ®Google Scholar
• Borg E, Borg G. A comparison of AME and CR100 for scaling perceived exertion. Acta Psychol. 2002;109(2):157–175.
   PubMed Web of Science ®Google Scholar
• Van Swearingen JM, Brach JS. The facial disability index: reliability and validity of a disability assessment instrument for disorders of the facial neuromuscular system. Phys Ther. 1996;76(12):1288–1298.
   PubMed Web of Science ®Google Scholar
• Nasreddine ZS, Phillips NA, Bédirian V, et al. The montreal cognitive assessment, MoCA: a brief screening tool for mild cognitive impairment. J Am Geriatr Soc. 2005;53(4):695–699.
   PubMed Web of Science ®Google Scholar
• Nyenhuis DL, Yamamoto C, Luchetta T, et al. Adult and geriatric normative data and validation of the profile of mood states. J. Clin. Psychol. 1999;55(1):79–86.
   PubMed Web of Science ®Google Scholar
• Wang YP, Gorenstein C. Assessment of depression in medical patients: a systematic review of the utility of the beck depression Inventory-II. Clinics. 2013;68(9):1274–1287.
   PubMed Web of Science ®Google Scholar
• Guillén-Riquelme A, Buela-Casal G. Meta-analysis of group comparison and meta-analysis of reliability generalization of the state-trait anxiety inventory questionnaire (STAI). Rev Esp Salud Publica. 2014;88(1):101–112.
   PubMed Web of Science ®Google Scholar
• Hewlett S, Dures E, Almeida C. Measures of fatigue: bristol rheumatoid arthritis fatigue Multi-Dimensional questionnaire (BRAF MDQ), bristol rheumatoid arthritis fatigue numerical rating scales (BRAF NRS) for severity, effect, and coping, chalder fatigue questionnaire (CFQ), checklist individual strength (CIS20R and CIS8R), fatigue severity scale (FSS), functional assessment chronic illness therapy (fatigue) (FACIT-F), multi-dimensional assessment of fatigue (MAF), multi-dimensional fatigue inventory (MFI), pediatric quality Of life (PedsQL) multi-dimensional fatigue scale, profile of fatigue (ProF), short form 36 vitality subscale (SF-36 VT), and visual analog scales (VAS). Arthritis Care Res. 2011;63(S11):S263–S286.
   PubMedGoogle Scholar
• Sansone VA, Panzeri M, Montanari M, et al. Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases. Eur J Neurol. 2010;17(9):1178–1187. 10.1111/j.1468-1331.2010.02992.x.
   PubMed Web of Science ®Google Scholar
• Apolone G, Mosconi P. The italian SF-36 health survey: translation, validation and norming. J Clin Epidemiol. 1998;51(11):1025–1036.
   PubMed Web of Science ®Google Scholar
• Koo TK, Li MY. A guideline of selecting and reporting intraclass correlation coefficients for reliability research. J Chiropr Med. 2016;15(2):155–163.
   PubMed Web of Science ®Google Scholar
• Nunnally JC, Bernstein IH. Psychometric theory. 3rd ed. New York: mcGraw-Hill; 1994.
   Google Scholar
• Terwee CB, Bot SD, de Boer MR, et al. Quality criteria were proposed for measurement properties of health status questionnaires. J Clin Epidemiol. 2007;60(1):34–42.
   PubMed Web of Science ®Google Scholar
• Tawil R, Padberg GW, Shaw DW, et al. Clinical trial preparedness in facioscapulohumeral muscular dystrophy: clinical, tissue, and imaging outcome measures 29-30 may 2015, rochester, New York. Neuromuscul Disord. 2016;26(2):181–186.
   PubMed Web of Science ®Google Scholar