Measuring the functional impact of cognitive impairment in Huntington's disease


Por: Horta-Barba, A, Martinez-Horta, S, Perez-Perez, J, Sampedro, F, Puig-Davi, A, Pagonabarraga, J, Kulisevsky, J

Publicada: 1 jul 2022 Ahead of Print: 1 ene 2022
Resumen:
Background Patients with Huntington's disease (HD) exhibit a variable predominance of cognitive, behavioral and motor symptoms. A specific instrument focusing on the impact of cognitive impairment in HD over functional capacity is lacking. Objective To address the need for a brief and specifically developed HD questionnaire able to capture functional aspects suspected to be sensitive to cognitive impairment. Methods We developed and validated the "Huntington's Disease-Cognitive Functional Rating Scale" (HD-CFRS) in 78 symptomatic carriers of the Huntington's disease mutation. We also administered the HD-CFRS to a knowledgeable informant to measure the level of agreement. To explore the association between HD-CFRS scores and participants' cognitive status, we administered objective measures of cognition. Participants were classified as cognitively preserved (HD-NC), as having mild cognitive impairment (HD-MCI), or as having dementia (HD-Dem). Results The HD-CFRS showed concurrent validity and internal consistency in the three groups. HD carriers and informants in the HD-NC group obtained similar HD-CFRS scores. However, in patients with mild cognitive impairment and dementia, informers reported greater functional impairment than HD participants. The HD-CFRS total score showed strong correlations with measures assessing cognition. Conclusions These findings support the utility of the HD-CFRS as a brief and reliable instrument to measure functional defects associated with cognitive impairment in HD. We believe this questionnaire could be a useful tool both for clinical practice and research.

Filiaciones:
Horta-Barba, A:
 Hosp Santa Creu & Sant Pau, Movement Disorders Unit, Neurol Dept, Mas Casanovas 90, Barcelona 08041, Spain

 Univ Autonoma Barcelona UAB, Dept Med, Barcelona, Spain

 Inst Invest Biomed St Pau IIB St Pau, Barcelona, Spain

 Ctr Invest Red Enfermedades Neurodegenerat CIBERN, Madrid, Spain

 European Huntingtons Dis Network EHDN, Ulm, Germany

Martinez-Horta, S:
 Hosp Santa Creu & Sant Pau, Movement Disorders Unit, Neurol Dept, Mas Casanovas 90, Barcelona 08041, Spain

 Univ Autonoma Barcelona UAB, Dept Med, Barcelona, Spain

 Inst Invest Biomed St Pau IIB St Pau, Barcelona, Spain

 Ctr Invest Red Enfermedades Neurodegenerat CIBERN, Madrid, Spain

 European Huntingtons Dis Network EHDN, Ulm, Germany

Perez-Perez, J:
 Hosp Santa Creu & Sant Pau, Movement Disorders Unit, Neurol Dept, Mas Casanovas 90, Barcelona 08041, Spain

 Univ Autonoma Barcelona UAB, Dept Med, Barcelona, Spain

 Inst Invest Biomed St Pau IIB St Pau, Barcelona, Spain

 Ctr Invest Red Enfermedades Neurodegenerat CIBERN, Madrid, Spain

 European Huntingtons Dis Network EHDN, Ulm, Germany

Sampedro, F:
 Hosp Santa Creu & Sant Pau, Movement Disorders Unit, Neurol Dept, Mas Casanovas 90, Barcelona 08041, Spain

 Inst Invest Biomed St Pau IIB St Pau, Barcelona, Spain

Puig-Davi, A:
 Hosp Santa Creu & Sant Pau, Movement Disorders Unit, Neurol Dept, Mas Casanovas 90, Barcelona 08041, Spain

 Inst Invest Biomed St Pau IIB St Pau, Barcelona, Spain

Pagonabarraga, J:
 Hosp Santa Creu & Sant Pau, Movement Disorders Unit, Neurol Dept, Mas Casanovas 90, Barcelona 08041, Spain

 Univ Autonoma Barcelona UAB, Dept Med, Barcelona, Spain

 Inst Invest Biomed St Pau IIB St Pau, Barcelona, Spain

 Ctr Invest Red Enfermedades Neurodegenerat CIBERN, Madrid, Spain

Kulisevsky, J:
 Hosp Santa Creu & Sant Pau, Movement Disorders Unit, Neurol Dept, Mas Casanovas 90, Barcelona 08041, Spain

 Univ Autonoma Barcelona UAB, Dept Med, Barcelona, Spain

 Inst Invest Biomed St Pau IIB St Pau, Barcelona, Spain

 Ctr Invest Red Enfermedades Neurodegenerat CIBERN, Madrid, Spain

 European Huntingtons Dis Network EHDN, Ulm, Germany
ISSN: 03405354





JOURNAL OF NEUROLOGY
Editorial
SPRINGER HEIDELBERG, TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY, Alemania
Tipo de documento: Article
Volumen: 269 Número: 7
Páginas: 3541-3549
WOS Id: 000745346800001
ID de PubMed: 35061089
imagen hybrid, All Open Access; Hybrid Gold

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