A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

Giulia Ricci, Lucia Ruggiero, Liliana Vercelli, Francesco Sera, Ana Nikolic, Monica Govi, Fabiano Mele, Jessica Daolio, Corrado Angelini, Giovanni Antonini, Angela Lucia Berardinelli, Elisabetta Bucci, Michelangelo Cao, Maria Chiara D’Amico, Maria Grazia D'Angelo, A. Di Muzio, Massimiliano Filosto, Lorenzo Maggi, Maurizio Gualtiero Moggio, T. MonginiLucia Morandi, E. Pegoraro, C. Rodolico, Lucio Santoro, Gabriele Siciliano, Giuliano Tomelleri, Luisa Villa, Rossella Tupler

Research output: Contribution to journalArticle

Abstract

Based on the 7-year experience of the Italian Clinical Network for FSHD, we revised the FSHD clinical form to describe, in a harmonized manner, the phenotypic spectrum observed in FSHD. The new Comprehensive Clinical Evaluation Form (CCEF) defines various clinical categories by the combination of different features. The inter-rater reproducibility of the CCEF was assessed between two examiners using kappa statistics by evaluating 56 subjects carrying the molecular marker used for FSHD diagnosis. The CCEF classifies: (1) subjects presenting facial and scapular girdle muscle weakness typical of FSHD (category A, subcategories A1–A3), (2) subjects with muscle weakness limited to scapular girdle or facial muscles (category B subcategories B1, B2), (3) asymptomatic/healthy subjects (category C, subcategories C1, C2), (4) subjects with myopathic phenotype presenting clinical features not consistent with FSHD canonical phenotype (D, subcategories D1, D2). The inter-rater reliability study showed an excellent concordance of the final four CCEF categories with a κ equal to 0.90; 95 % CI (0.71; 0.97). Absolute agreement was observed for categories C and D, an excellent agreement for categories A [κ = 0.88; 95 % CI (0.75; 1.00)], and a good agreement for categories B [κ = 0.79; 95 % CI (0.57; 1.00)]. The CCEF supports the harmonized phenotypic classification of patients and families. The categories outlined by the CCEF may assist diagnosis, genetic counseling and natural history studies. Furthermore, the CCEF categories could support selection of patients in randomized clinical trials. This precise categorization might also promote the search of genetic factor(s) contributing to the phenotypic spectrum of disease.

Original languageEnglish
Pages (from-to)1204-1214
Number of pages11
JournalJournal of Neurology
Volume263
Issue number6
DOIs
Publication statusPublished - 2016

Fingerprint

Facioscapulohumeral Muscular Dystrophy
Phenotype
Muscle Weakness
Facial Muscles
Genetic Counseling
Natural History
Patient Selection
Healthy Volunteers
Randomized Controlled Trials

Keywords

  • Clinical phenotype
  • Diagnostic criteria
  • Disease classification
  • Disease registry
  • FSHD

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Ricci, G., Ruggiero, L., Vercelli, L., Sera, F., Nikolic, A., Govi, M., ... Tupler, R. (2016). A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. Journal of Neurology, 263(6), 1204-1214. https://doi.org/10.1007/s00415-016-8123-2

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. / Ricci, Giulia; Ruggiero, Lucia; Vercelli, Liliana; Sera, Francesco; Nikolic, Ana; Govi, Monica; Mele, Fabiano; Daolio, Jessica; Angelini, Corrado; Antonini, Giovanni; Berardinelli, Angela Lucia; Bucci, Elisabetta; Cao, Michelangelo; D’Amico, Maria Chiara; D'Angelo, Maria Grazia; Di Muzio, A.; Filosto, Massimiliano; Maggi, Lorenzo; Moggio, Maurizio Gualtiero; Mongini, T.; Morandi, Lucia; Pegoraro, E.; Rodolico, C.; Santoro, Lucio; Siciliano, Gabriele; Tomelleri, Giuliano; Villa, Luisa; Tupler, Rossella.

In: Journal of Neurology, Vol. 263, No. 6, 2016, p. 1204-1214.

Research output: Contribution to journalArticle

Ricci, G, Ruggiero, L, Vercelli, L, Sera, F, Nikolic, A, Govi, M, Mele, F, Daolio, J, Angelini, C, Antonini, G, Berardinelli, AL, Bucci, E, Cao, M, D’Amico, MC, D'Angelo, MG, Di Muzio, A, Filosto, M, Maggi, L, Moggio, MG, Mongini, T, Morandi, L, Pegoraro, E, Rodolico, C, Santoro, L, Siciliano, G, Tomelleri, G, Villa, L & Tupler, R 2016, 'A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes', Journal of Neurology, vol. 263, no. 6, pp. 1204-1214. https://doi.org/10.1007/s00415-016-8123-2
Ricci, Giulia ; Ruggiero, Lucia ; Vercelli, Liliana ; Sera, Francesco ; Nikolic, Ana ; Govi, Monica ; Mele, Fabiano ; Daolio, Jessica ; Angelini, Corrado ; Antonini, Giovanni ; Berardinelli, Angela Lucia ; Bucci, Elisabetta ; Cao, Michelangelo ; D’Amico, Maria Chiara ; D'Angelo, Maria Grazia ; Di Muzio, A. ; Filosto, Massimiliano ; Maggi, Lorenzo ; Moggio, Maurizio Gualtiero ; Mongini, T. ; Morandi, Lucia ; Pegoraro, E. ; Rodolico, C. ; Santoro, Lucio ; Siciliano, Gabriele ; Tomelleri, Giuliano ; Villa, Luisa ; Tupler, Rossella. / A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. In: Journal of Neurology. 2016 ; Vol. 263, No. 6. pp. 1204-1214.
@article{569753eda8144d278b68f28e1730df3d,
title = "A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes",
abstract = "Based on the 7-year experience of the Italian Clinical Network for FSHD, we revised the FSHD clinical form to describe, in a harmonized manner, the phenotypic spectrum observed in FSHD. The new Comprehensive Clinical Evaluation Form (CCEF) defines various clinical categories by the combination of different features. The inter-rater reproducibility of the CCEF was assessed between two examiners using kappa statistics by evaluating 56 subjects carrying the molecular marker used for FSHD diagnosis. The CCEF classifies: (1) subjects presenting facial and scapular girdle muscle weakness typical of FSHD (category A, subcategories A1–A3), (2) subjects with muscle weakness limited to scapular girdle or facial muscles (category B subcategories B1, B2), (3) asymptomatic/healthy subjects (category C, subcategories C1, C2), (4) subjects with myopathic phenotype presenting clinical features not consistent with FSHD canonical phenotype (D, subcategories D1, D2). The inter-rater reliability study showed an excellent concordance of the final four CCEF categories with a κ equal to 0.90; 95 {\%} CI (0.71; 0.97). Absolute agreement was observed for categories C and D, an excellent agreement for categories A [κ = 0.88; 95 {\%} CI (0.75; 1.00)], and a good agreement for categories B [κ = 0.79; 95 {\%} CI (0.57; 1.00)]. The CCEF supports the harmonized phenotypic classification of patients and families. The categories outlined by the CCEF may assist diagnosis, genetic counseling and natural history studies. Furthermore, the CCEF categories could support selection of patients in randomized clinical trials. This precise categorization might also promote the search of genetic factor(s) contributing to the phenotypic spectrum of disease.",
keywords = "Clinical phenotype, Diagnostic criteria, Disease classification, Disease registry, FSHD",
author = "Giulia Ricci and Lucia Ruggiero and Liliana Vercelli and Francesco Sera and Ana Nikolic and Monica Govi and Fabiano Mele and Jessica Daolio and Corrado Angelini and Giovanni Antonini and Berardinelli, {Angela Lucia} and Elisabetta Bucci and Michelangelo Cao and D’Amico, {Maria Chiara} and D'Angelo, {Maria Grazia} and {Di Muzio}, A. and Massimiliano Filosto and Lorenzo Maggi and Moggio, {Maurizio Gualtiero} and T. Mongini and Lucia Morandi and E. Pegoraro and C. Rodolico and Lucio Santoro and Gabriele Siciliano and Giuliano Tomelleri and Luisa Villa and Rossella Tupler",
year = "2016",
doi = "10.1007/s00415-016-8123-2",
language = "English",
volume = "263",
pages = "1204--1214",
journal = "Journal of Neurology",
issn = "0340-5354",
publisher = "Dr. Dietrich Steinkopff Verlag GmbH and Co. KG",
number = "6",

}

TY - JOUR

T1 - A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

AU - Ricci, Giulia

AU - Ruggiero, Lucia

AU - Vercelli, Liliana

AU - Sera, Francesco

AU - Nikolic, Ana

AU - Govi, Monica

AU - Mele, Fabiano

AU - Daolio, Jessica

AU - Angelini, Corrado

AU - Antonini, Giovanni

AU - Berardinelli, Angela Lucia

AU - Bucci, Elisabetta

AU - Cao, Michelangelo

AU - D’Amico, Maria Chiara

AU - D'Angelo, Maria Grazia

AU - Di Muzio, A.

AU - Filosto, Massimiliano

AU - Maggi, Lorenzo

AU - Moggio, Maurizio Gualtiero

AU - Mongini, T.

AU - Morandi, Lucia

AU - Pegoraro, E.

AU - Rodolico, C.

AU - Santoro, Lucio

AU - Siciliano, Gabriele

AU - Tomelleri, Giuliano

AU - Villa, Luisa

AU - Tupler, Rossella

PY - 2016

Y1 - 2016

N2 - Based on the 7-year experience of the Italian Clinical Network for FSHD, we revised the FSHD clinical form to describe, in a harmonized manner, the phenotypic spectrum observed in FSHD. The new Comprehensive Clinical Evaluation Form (CCEF) defines various clinical categories by the combination of different features. The inter-rater reproducibility of the CCEF was assessed between two examiners using kappa statistics by evaluating 56 subjects carrying the molecular marker used for FSHD diagnosis. The CCEF classifies: (1) subjects presenting facial and scapular girdle muscle weakness typical of FSHD (category A, subcategories A1–A3), (2) subjects with muscle weakness limited to scapular girdle or facial muscles (category B subcategories B1, B2), (3) asymptomatic/healthy subjects (category C, subcategories C1, C2), (4) subjects with myopathic phenotype presenting clinical features not consistent with FSHD canonical phenotype (D, subcategories D1, D2). The inter-rater reliability study showed an excellent concordance of the final four CCEF categories with a κ equal to 0.90; 95 % CI (0.71; 0.97). Absolute agreement was observed for categories C and D, an excellent agreement for categories A [κ = 0.88; 95 % CI (0.75; 1.00)], and a good agreement for categories B [κ = 0.79; 95 % CI (0.57; 1.00)]. The CCEF supports the harmonized phenotypic classification of patients and families. The categories outlined by the CCEF may assist diagnosis, genetic counseling and natural history studies. Furthermore, the CCEF categories could support selection of patients in randomized clinical trials. This precise categorization might also promote the search of genetic factor(s) contributing to the phenotypic spectrum of disease.

AB - Based on the 7-year experience of the Italian Clinical Network for FSHD, we revised the FSHD clinical form to describe, in a harmonized manner, the phenotypic spectrum observed in FSHD. The new Comprehensive Clinical Evaluation Form (CCEF) defines various clinical categories by the combination of different features. The inter-rater reproducibility of the CCEF was assessed between two examiners using kappa statistics by evaluating 56 subjects carrying the molecular marker used for FSHD diagnosis. The CCEF classifies: (1) subjects presenting facial and scapular girdle muscle weakness typical of FSHD (category A, subcategories A1–A3), (2) subjects with muscle weakness limited to scapular girdle or facial muscles (category B subcategories B1, B2), (3) asymptomatic/healthy subjects (category C, subcategories C1, C2), (4) subjects with myopathic phenotype presenting clinical features not consistent with FSHD canonical phenotype (D, subcategories D1, D2). The inter-rater reliability study showed an excellent concordance of the final four CCEF categories with a κ equal to 0.90; 95 % CI (0.71; 0.97). Absolute agreement was observed for categories C and D, an excellent agreement for categories A [κ = 0.88; 95 % CI (0.75; 1.00)], and a good agreement for categories B [κ = 0.79; 95 % CI (0.57; 1.00)]. The CCEF supports the harmonized phenotypic classification of patients and families. The categories outlined by the CCEF may assist diagnosis, genetic counseling and natural history studies. Furthermore, the CCEF categories could support selection of patients in randomized clinical trials. This precise categorization might also promote the search of genetic factor(s) contributing to the phenotypic spectrum of disease.

KW - Clinical phenotype

KW - Diagnostic criteria

KW - Disease classification

KW - Disease registry

KW - FSHD

UR - http://www.scopus.com/inward/record.url?scp=84964546762&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84964546762&partnerID=8YFLogxK

U2 - 10.1007/s00415-016-8123-2

DO - 10.1007/s00415-016-8123-2

M3 - Article

VL - 263

SP - 1204

EP - 1214

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

IS - 6

ER -