The Development of a New Patient-Reported Outcome Measure in Recessive Ataxias: The Person-Reported Ataxia Impact Scale.

Autosomal recessive cerebellar ataxias (ARCAs) are inherited neurological disorders that can affect both the central and peripheral nervous systems. To assess the effects of interventions according to the perception of people affected, patient-reported outcome measures (PROMs) must be available. This paper presents the development process of the Person-Reported Ataxia Impact Scale (PRAIS), a new PROM in recessive ataxias, and the documentation of its content validity, interpretability, and construct validity (structural and discriminant). The development followed the PROMIS framework and the Food and Drug Administration guidelines. A mixed-method study design was used to develop the PROM. A systematic review of the literature, semistructured interviews, and discussion groups was conducted to constitute an item pool. Experts' consultation helped formulate items, and the questionnaire was sent online to be completed by people affected. Statistical analyses were performed to assess the structural and discriminant validity. A total of 125 people affected by recessive ataxia completed the questionnaire. The factor analysis confirmed the three components: physical functions and activities, mental functions, and social functions. The statistical analysis showed that it can discriminate between stages of mobility and level of autonomy. It showed very good levels of internal consistency (0.79 to 0.89). The Person-Reported Ataxia Impact Scale (PRAIS) is a 38-item questionnaire that assesses the manifestations and impacts of the disease according to the perception of people affected by recessive ataxia. It can be used in clinical and research settings.

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is one of the most prevalent in Europe. OBJECTIVES: The aim of this study is to provide a better understanding of the manifestations and impacts of ARSACS. METHODS: A systematic review of the literature was conducted, followed by a qualitative study using semistructured interviews and discussion groups to obtain the experience of people affected. RESULTS: According to the PROMIS framework, the results show manifestations and impacts in three components of health: physical, mental, and social. Fatigue and struggles with balance and dexterity are the physical manifestations of the disease most often cited by participants. Negative affects such as frustration and depression are among the mental health impacts with some loss in cognitive abilities. Social health is the least documented component; nonetheless, people with the disease report significant impacts in terms of social relationships, activities and work. CONCLUSIONS: These findings shed new light on the experience of people with recessive ataxia and identify key aspects to assess to improve their overall health.

[Development of the concept of positive spirituality in health]. / Élaboration du concept de spiritualité positive en santé.

Positive spirituality has three central attributes: connectedness, meaning of life, and identity. Six factors are likely to contribute to its emergence and it can allow the development of ten positive consequences.

Accomplishment of instrumental activities of daily living and its relationship with cognitive functions in adults with myotonic dystrophy type 1 childhood phenotype: an exploratory study.

BACKGROUND: The childhood phenotype of myotonic dystrophy type 1 (DM1) involves impaired cognitive functioning starting in infancy, which may compromise later on their ability to carry out instrumental activities of daily living (IADLs) necessary for living independently. The current study aims to document the ability to perform IADLs among adults with the childhood phenotype of DM1 and to explore its links to cognitive functioning. METHODS: This cross-sectional exploratory study was conducted among 11 individuals living with DM1. IADLs related to money management, home management & transportation and health & safety activities were assessed by the Independent Living Scale (ILS). Neuropsychological tests assessed participants' intellectual abilities and executive functioning. Associations were investigated using Spearman's rho correlation. RESULTS: Important difficulties were found in all three categories of IADLs, mostly in money management in which only 2/11 participants were scored as independent. 8/11 participants showed low to very low intellectual functioning and limit to impaired executive functioning. Apathy was also a common feature as 5/11 participants showed clinical level of apathy. A lower IQ was associated with greater difficulty in the home management & transportation subtest of the ILS. CONCLUSIONS: Adults with the childhood phenotype of DM1 demonstrate relative dependence in regard to the following IADLs: money management and home management & transportation. Level of dependence is, at least partially, associated with cognitive impairments. The work relates to results from an exploratory study; thus, studies must be pursued to describe in more details difficulties experienced by this population.

French translation and cross-cultural adaptation of The Myotonic Dystrophy Health Index.

INTRODUCTION: Validation studies of disease-specific instruments for myotonic dystrophy type-1 (DM1) are required prior to their global use in clinical trials involving different cultures and countries. Here we translate and culturally adapt the Myotonic Dystrophy Health Index (MDHI), a disease-specific patient-reported outcome (PRO) measure, for a French DM1 population. METHODS: Using the International Society for Pharmacoeconomics and Outcomes Research Task Force method for translation and adaptation of PRO questionnaires, we created a French translation of the MDHI. We subsequently tested this instrument in a cohort of French-speaking patients with DM1. RESULTS: The MDHI was forward and back translated and modified by consensus to create the most compatible translation. Cognitive interviews were conducted with 5 patients with DM1 to ensure the usability and understanding of the translation. DISCUSSION: The French version of the MDHI is an optimal translation of the original instrument that is acceptable to native patients and ready for clinical trial use. Muscle Nerve 57: 686-689, 2018.

Traduction française de l'échelle Charcot-Marie-Tooth Disease Pediatric Scale.

Résumé Cet article présente le processus de traduction en français du Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS), le seul outil de mesure validé évaluant la sévérité de la maladie chez les enfants atteints de CMT. Le processus de traduction utilisé s'inspire des lignes directrices de la Food and Drug Administration (FDA). La version préliminaire francophone du CMTPedS a été testée auprès de 14 enfants atteints. Les résultats de l'application démontrent que la passation a été bien tolérée par les enfants et s'est avérée conviviale pour les cliniciens. La disponibilité de cet outil en français semble prometteuse pour le suivi des enfants atteints et la réalisation d'essais clinique.