Περίληψη:
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 α = 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. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society
Συγγραφείς:
Darling, A.
Tello, C.
Martí, M.J.
Garrido, C.
Aguilera-Albesa, S.
Tomás Vila, M.
Gastón, I.
Madruga, M.
González Gutiérrez, L.
Ramos Lizana, J.
Pujol, M.
Gavilán Iglesias, T.
Tustin, K.
Lin, J.P.
Zorzi, G.
Nardocci, N.
Martorell, L.
Lorenzo Sanz, G.
Gutiérrez, F.
García, P.J.
Vela, L.
Hernández Lahoz, C.
Ortigoza Escobar, J.D.
Martí Sánchez, L.
Moreira, F.
Coelho, M.
Correia Guedes, L.
Castro Caldas, A.
Ferreira, J.
Pires, P.
Costa, C.
Rego, P.
Magalhães, M.
Stamelou, M.
Cuadras Pallejà, D.
Rodríguez-Blazquez, C.
Martínez-Martín, P.
Lupo, V.
Stefanis, L.
Pons, R.
Espinós, C.
Temudo, T.
Pérez Dueñas, B.
Λέξεις-κλειδιά:
pantothenate kinase, adolescent; adult; aged; Article; behavior; child; clinical article; clinical assessment; clinical protocol; cognition; cognitive defect; construct validity; convergent validity; Cronbach alpha coefficient; cross-sectional study; disability; dystonia; female; genetic analysis; human; internal consistency; interrater reliability; male; medical specialist; mental disease; middle aged; motor dysfunction; neurodegeneration with brain iron accumulation; neurologic disease; Pantothenate Kinase Associated Neurodegeneration Rating Scale; parkinsonism; pilot study; point mutation; preschool child; priority journal; questionnaire; rating scale; saccadic eye movement; school child; young adult; clinical trial; cognitive defect; complication; disabled person; dystonia; eye movement disorder; genetics; mental disease; multicenter study; neurodegeneration with brain iron accumulation; parkinsonism; reproducibility; severity of illness index, Adolescent; Adult; Aged; Child; Cognitive Dysfunction; Cross-Sectional Studies; Disabled Persons; Dystonia; Humans; Mental Disorders; Middle Aged; Ocular Motility Disorders; Pantothenate Kinase-Associated Neurodegeneration; Parkinsonian Disorders; Pilot Projects; Reproducibility of Results; Severity of Illness Index; Young Adult
