Muscular de Duchenne : uma revisão sistemática Evaluation tools for quality life improvements for patients with Duchenne Muscular Dystrophy : a systematic review

Introduction: Duchenne Muscular Dystrophy (DMD) is characterized by membrane dissociation, resulting in the breakdown of the musculoskeletal fiber. Objective: to identify the assessment tools used to measure the quality of life in patients with DMD. Methodology: A systematic review of articles published from 2007 to 2017 on QOL assessment tools in patients with DMD was conducted in the SciELO, PubMED and LILACS databases. Results: 6 articles met the inclusion criteria, using the QOL assessment tools; Life Satisfaction Index for Adolescents; Quality of Life Evaluation Scale; Medical Outcomes Study 36; World Health Organization Quality of Life Instrument; Health Related Quality of Life Questionnaire for Children and Young People and their Parents e Pediatric Quality of Life Inventory. Conclusions: the tools for the evaluation of quality of life in patients with Duchenne Muscular Dystrophy (DMD) are essentials to determinate and to present an effective treatment focused on patient’s priorities and their main difficulties. However the lack of a validated scale specifically focused on this diagnostic interferes in the real score of those patients quality of life.


Introduction
The Duchenne Muscular Dystrophy (DMD), is a neuromuscular myopathy that causes progressive loss and muscle weakness, caused by a mutation on gen X, that leads to the absence, or lack of dystrophin protein and the continuous degeneration from the muscles fibers, as the extracellular matrix (Mah, 2016;Jacques et al., 2019).
The DMD affects ~0,1 a 1,8 out of 10.000 male individuals all around the world (Romitti et al., 2015;Zamani et al., 2016). The clinical manifestations are generally observed from 1 to 3 years old, with balance deficit, delayed march, difficulty in climbing stairs and progressive weakness in the inferior members, with the muscles around the calf, pelvis, and thigh, visibly more voluminous than the usual (Moraes et al., 2011;Ryder et al., 2017).
Consequently, the individual develops a global muscular weakness with ambling loss typically around 12 years old (Jacques et al., 2019). The progressive muscular strength loss, the limitation in performing activities of daily living (ADLs) and the increase in the body mass index (BMI) affects the psychological well-being in high weight individuals, changing their (QOL) in a negative way (Fujino et al., 2016). QOL can be understood by a set of situations and sensations that the individuals subjectively describe, from personal and collective values, cultural perspectives, acquired knowledge, and experiences (Burckhardt & Anderson, 2003). The World Health Organization (WHO) defines QOL as a perception that de individuals include their achievements, standard expectations and worries (Organization, 1995). For a greater analysis, the tools to assess QOL have been utilized to complement clinical standards besides being useful to evaluate the service's quality, health care's needs and the interventions' effectiveness (Souza et al., 2014).
The assessment questionnaires can work as a tool to collect objective and subjective information. For such, these tools need to be easily manageable, having low operational expenses, being standardized, easy to reproduce, reliable, and susceptible in detecting alterations promoted by the disease or treatment (Booth et al., 2002). Development, v. 9, n. 9, e491997397, 2020 (CC BY 4.0) | ISSN 2525-3409 | DOI: http://dx.doi.org/10.33448/rsd-v9i9.7397 5 Those measures create a perspective from the patients about the need of healthcare and their choices for treatments (Carr & Higginson, 2002). However, the challenge in QOL's assessment depends on its singularity for the individuals that many times are considered preselected domains, and because of that, they are evaluated in general health status and not by QOL (Gierlaszyńska et al., 2016). In this context, the study's objective was to identify the evaluation tools used to measure the quality of life in patients with DMD.

Methodology
It is based on a systematic review, quantitative study (Pereira et al., 2018)  The articles were submitted to the Relevance Test I (RTI), through the reading of titles and abstracts. Posteriorly, the articles were submitted to the Relevancy Test II (RTII), all the articles being in the line-up (Table 1).  Denmark, 2014). In this study, two independent researchers selected two studies following the eligibility's criteria. The divergences were solved in consensus with a third one. The methodology quality results were presented in graphs.

Results
In the three searched databases, 605 articles were identified. From those, 588 were discarded by their titles and abstracts due to duplicity and/or being related to other treatments and pathologies. From the 17 selected publications, 1 was excluded for being a review article, 2 articles weren't available for complete reading and 8 were excluded for not presenting as the main outcome the QOL evaluation in patients diagnosed with DMD by the specific tools ( Figure 1).

Figure 1.
Flowchart of the followed steps to select the article.
Source: Own creation.
Regarding the conjugate descriptors that were used for this search, "Dystrophy Muscular, Duchenne; Quality of Life", "Distrofia Muscular de Duchenne; Qualidade de Vida" and "Distrofia Muscular de Duchenne and Calidad de Vida" were the most found, respectively, corresponding to 33,05% (Table 2).
Research, Society and Development, v. 9, n. 9, e491997397, 2020 (CC BY 4.0) | ISSN 2525-3409 | DOI: http://dx.doi.org/10.33448/rsd-v9i9.7397     Research, Society and Development, v. 9, n. 9, e491997397, 2020 (CC BY 4 In this context, the questionnaires are precise and standardized searching tools, easy to apply, with objective and subjective questions, reliable reproduction in similar conditions, validity, sensibility, and reproducibility (Gierlaszyńska et al., 2016). According to Souza et al. (2014), the QOL indicators include generic tools for the QOL's global assessment and specific and personalized tools that quantify different life aspects for the individuals affected by some health condition or a specific disease.
LSI is a specific tool composed by 45 questions, used to evaluate patients with neuromuscular disturbances and it encompasses five domains: general well-being, interpersonal relationship, development, personal satisfaction, leisure and recreation (Simon et al., 2011). This questionnaire assesses the perception in QOL in teenagers between 12 and 19 years old with DMD (Reid & Renwick, 1994). According to Simon et al., (2011) when assessing QOL in 95 patients with DMD with ages between 5 and 17 years old, it was observed that there was not a QOL loss, even amid the older and are more affected children by DMD, probably for not excessively valorizing clinical aspects.
As for AUQEI, it consists of a questionnaire with 26 questions, that allows obtaining a children's satisfaction profile towards multiple factors (family relationship, social, activities, health, body functions and separation). This tool is based on self-evaluation with the support of 4 (four) images, associated to the referred factors and that the child can answer herself, with every question receiving a punctuation that ranges from 0 to 3 and being able to obtain a total score from 0 to 78 points (Assumpção et al., 2000). Longo et al. (2009)

Conclusions
This study examined the importance of these tools regarding QOL's assessment in individuals with DMD. Such tools are essential for the evaluator's multidimensional view in terms of subjective questions that cannot be observed during clinical analysis. Furthermore, it is necessary to notice the sample's homogeneity so that the result will not be influenced. The evaluation must be done by a single evaluator, in order to reduce the risks of results with different interpretations over the questions and answers. As for the interviewed, it is necessary an evaluation concerning the socioeconomic profiles, the age group and the DMD stage so that the given answers do not suffer any influence regarding their own heath perception, QOL, and familiar relationship, reinforcing the need for more scientific studies that lead to the validation of QOL instruments specifically aimed at Muscular Dystrophy.