Clinical Rating Scale for Pantothenate Kinase-Associated Neurodegeneration: A Pilot Study
Por:
A. DARLING, C. TELLO, M. MARTI, C. GARRIDO, S. AGUILERA-ALBESA, M. VILA, I. GASTON, M. MADRUGA, L. GUTIERREZ, J. LIZANA, M. PUJOL, T. IGLESIAS, K. TUSTIN, J. LIN, G. ZORZI, N. NARDOCCI, L. MARTORELL, G. SANZ, F. GUTIERREZ, P. GARCIA, L. VELA, C. LAHOZ, J. ESCOBAR, L. SANCHEZ, F. MOREIRA, M. COELHO, L. GUEDES, A. CALDAS, J. FERREIRA, P. PIRES, C. COSTA, P. REGO, M. MAGALHAES, M. STAMELOU, D. PALLEJA, C. RODRIGUEZ-BLAZQUEZ, P. MARTINEZ-MARTIN, V. LUPO, L. STEFANIS, R. PONS, C. ESPINOS, T. TEMUDO and B. DUENAS
Publicada:
1 nov 2017
Resumen:
Background: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration.
Methods: In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol. The motor examination was filmed, allowing 3 independent specialists in movement disorders to analyze 28 patients for interrater reliability assessment. The scale included 34 items (maximal score, 135) encompassing 6 subscales for cognition, behavior, disability, parkinsonism, dystonia, and other neurological signs.
Results: Forty-seven genetically confirmed patients (30 17 years; range, 6-77 years) were examined with the scale (mean score, 62 +/- 21; range, 20-106). Dystonia with prominent cranial involvement and atypical parkinsonian features were present in all patients. Other common signs were cognitive impairment, psychiatric features, and slow and hypometric saccades. Dystonia, parkinsonism, and other neurological features had a moderate to strong correlation with disability. The scale showed good internal consistency for the total scale (Cronbach's alpha = 0.87). On interrater analysis, weighted kappa values (0.30-0.93) showed substantial or excellent agreement in 85% of the items. The scale also discriminated a subgroup of homozygous c.1583C>T patients with lower scores, supporting construct validity for the scale.
Conclusions: The proposed scale seems to be a reliable and valid instrument for the assessment of pediatric and adult patients with pantothenate kinase-associated neurodegeneration. Additional validation studies with a larger sample size will be required to confirm the present results and to complete the scale validation testing. (c) 2017 International Parkinson and Movement Disorder Society
Filiaciones:
A. DARLING:
Hosp St Joan de Deu, Unit Pediat Movement Disorders, Barcelona, Spain
:
Ctr Invest Principe Felipe, Unit Genet & Genom Neuromuscular & Neurodegenerat, Valencia, Spain
M. MARTI:
Hosp Clin Barcelona, Inst Invest Biomed IDIBAPS, Neurol Dept, Barcelona, Spain
Ctr Invest Biomed Red Neurodegenerat CIBERNED, Madrid, Spain
C. GARRIDO:
Ctr Hosp Porto, Ctr Maternoinfantil, Pediat Neurol Dept, Oporto, Portugal
S. AGUILERA-ALBESA:
Complejo Hosp Navarra, Navarrabiomed, Pediat Neurol Dept, Pamplona, Spain
M. VILA:
Hosp Univ Politecn La Fe, Pediat Neurol Dept, Valencia, Spain
I. GASTON:
Complejo Hosp Navarra, Neurol Dept, Pamplona, Spain
M. MADRUGA:
Hosp Univ Virgen Rocio, Pediat Neurol Dept, Seville, Spain
L. GUTIERREZ:
Hosp Infantil Univ Nino Jesus, Pediat Neurol Dept, Madrid, Spain
J. LIZANA:
Hosp Torrecardenas, Pediat Neurol Dept, Almeria, Spain
M. PUJOL:
Hosp Santa Maria, Neurol Dept, Lerida, Spain
T. IGLESIAS:
Hosp Merida, Neurol Dept, Extremadura, Spain
K. TUSTIN:
Guys & St Thomas NHS Fdn Trust, Evelina London Childrens Hosp, Childrens Neurosci, London, England
J. LIN:
Guys & St Thomas NHS Fdn Trust, Evelina London Childrens Hosp, Childrens Neurosci, London, England
G. ZORZI:
Fdn IRCCS C Besta, Dept Pediat Neurosci, Milan, Italy
N. NARDOCCI:
Fdn IRCCS C Besta, Dept Pediat Neurosci, Milan, Italy
L. MARTORELL:
Hosp St Joan de Deu, Mol Genet Dept, Inst Salud Carlos 3, Madrid, Spain
G. SANZ:
Hosp Ramon & Cajal, Pediat Neurol Dept, Madrid, Spain
F. GUTIERREZ:
Complejo Asistencial Univ Palencia, Neurol Dept, Palencia, Spain
P. GARCIA:
Fdn Jimenez Diaz, Neurol Dept, Madrid, Spain
L. VELA:
Hosp Alcorcon, Neurol Dept, Madrid, Spain
C. LAHOZ:
Hosp Cent Asturias, Neurol Dept, Oviedo, Spain
J. ESCOBAR:
Hosp St Joan de Deu, Unit Pediat Movement Disorders, Barcelona, Spain
L. SANCHEZ:
Hosp St Joan de Deu, Unit Pediat Movement Disorders, Barcelona, Spain
F. MOREIRA:
Ctr Hosp & Univ Coimbra, Neurol Dept, Coimbra, Portugal
M. COELHO:
Hosp Santa Maria, Inst Med Mol, Clin Pharmacol Unit, Lisbon, Portugal
Hosp Santa Maria, Dept Neurosci, Serv Neurol, Lisbon, Portugal
L. GUEDES:
Lisbon Fac Med, Lab Clin Pharmacol & Therapeut, Lisbon, Portugal
A. CALDAS:
Hosp Santo Espirito, Neurol Dept, Ilha Terceira, Portugal
J. FERREIRA:
Hosp Santa Maria, Inst Med Mol, Clin Pharmacol Unit, Lisbon, Portugal
Hosp Santa Maria, Dept Neurosci, Serv Neurol, Lisbon, Portugal
Lisbon Fac Med, Lab Clin Pharmacol & Therapeut, Lisbon, Portugal
P. PIRES:
Hosp Santo Espirito, Neurol Dept, Ilha Terceira, Portugal
C. COSTA:
Hosp Fernando Fonseca, Neurol Dept, Lisbon, Portugal
P. REGO:
Hosp Cent Funchal, Pediat Dept, Funchal, Portugal
M. MAGALHAES:
Centro Hosp Porto, Neurol Dept, Oporto, Portugal
M. STAMELOU:
Univ Athens, Med Sch, Dept Neurol 2, Athens, Greece
HYGEIA Hosp, Parkinsons Dis & Other Movement Disorders Dept, Athens, Greece
D. PALLEJA:
Sant Joan de Deu Fdn, Stat Dept, Barcelona, Spain
C. RODRIGUEZ-BLAZQUEZ:
Inst Hlth Carlos III, Natl Ctr Epidemiol, Madrid, Spain
Inst Hlth Carlos III, CIBERNED, Madrid, Spain
P. MARTINEZ-MARTIN:
Inst Hlth Carlos III, Natl Ctr Epidemiol, Madrid, Spain
Inst Hlth Carlos III, CIBERNED, Madrid, Spain
:
Ctr Invest Principe Felipe, Unit Genet & Genom Neuromuscular & Neurodegenerat, Valencia, Spain
L. STEFANIS:
Univ Athens, Med Sch, Dept Neurol 2, Athens, Greece
R. PONS:
Univ Athens, Hosp Agia Sofia, Dept Pediat 1, Pediat Neurol Unit, Athens, Greece
:
Ctr Invest Principe Felipe, Unit Genet & Genom Neuromuscular & Neurodegenerat, Valencia, Spain
T. TEMUDO:
Ctr Hosp Porto, Ctr Maternoinfantil, Pediat Neurol Dept, Oporto, Portugal
B. DUENAS:
Hosp St Joan de Deu, Unit Pediat Movement Disorders, Barcelona, Spain
Inst Salud Carlos III, CIBERER, Madrid, Spain
Green Submitted
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