Objective:The relationship between functional dependence and quality of life (QOL) in Duchenne muscular dystrophy (DMD) patients and burden and QOL in caregivers is not clear. This study investigated possible relationships between functional dependence/QOL of DMD patients and QOL/burden of caregivers. Method: This study included 35 boys (6-17 years) and respective caregivers (above 21 years). Caregivers answered to World Health Organization Quality of Life and Zarit Burden Interview questionnaires. Patients were assessed with the Motor Function Measure and the Autoquestionnaire Qualité de vie Enfant Imagé. Spearman correlations and linear regressions were run to investigate relationships between the variables. Results: The occurrence of lower QOL and higher burden among the caregivers of patients with Duchenne muscular dystrophy was evidenced. The functional dependence of patients was not considered a determinant factor. Higher caregivers' burden was related to lower caregivers' QOL and to higher patients' ages.Keywords: Duchenne muscular dystrophy, behavior, quality of life, motor activity. RESUMOObjetivo: A relação entre qualidade de vida e função motora de pacientes com distrofia muscular de Duchenne (DMD) e sobrecarga e qualidade de vida (QV) dos cuidadores não está clara na literatura. Esse estudo investigou possíveis relações entre dependência funcional/ QV de pacientes e sobrecarga/QV dos cuidadores em 35 meninos (6-17 anos) com DMD e respectivos cuidadores (acima de 21 anos). Método: Cada cuidador respondeu ao questionário de QV da Organização Mundial de Saúde e de sobrecarga de Zarit e o paciente foi avaliado com a medida de função motora e o Autoquestionnaire Qualité de vie Enfant Imagé. Correlações de Spearman e regressões lineares investigaram possíveis relações entre as variáveis. Resultados: A ocorrência de menor QV e maior sobrecarga entre cuidadores foi evidenciada, enquanto a dependência funcional dos pacientes não foi considerada fator

AIMThe cognitive deficits present in the Duchenne muscular dystrophy (DMD) are not yet well characterized. Attention, considered to be the brain mechanism responsible for the selection of sensory stimuli, could be disturbed in DMD, contributing, at least partially, to the observed global cognitive deficit. The aim of this study was to investigate attentional function in individuals with DMD.METHOD Twenty-five males (mean age 12y; SD 2y 2mo) with DMD and 25 healthy males (mean age 12y; SD 2y) were tested in a visuospatial task (Posner computerized test). They were instructed to respond as quickly as possible to a lateralized visual target stimulus with the ipsilateral hand. Their attention was automatically orientated by a peripheral prime stimulus or, alternatively, voluntarily orientated by a central spatially informative cue. RESULTSThe main result obtained was that the attentional effect (sum of the benefit and the cost of attention) did not differ between the two groups in the case of automatic attention (p=0.846) but was much larger for individuals with DMD than for comparison individuals in the case of voluntary attention (p<0.001).INTERPRETATION The large voluntary attentional effect exhibited by the participants with DMD seems similar to that of younger children, suggesting that the disease is associated with delayed maturation of voluntary attention mechanisms.Duchenne muscular dystrophy (DMD) is a recessively inherited genetic disease with the second highest incidence of all genetic diseases. It is primarily characterized clinically by progressive and irreversible weakening of muscle strength due to skeletal muscle loss. The muscle loss is a result of the deficiency of a protein called dystrophin, secondary to a mutation of the Xp21 (or DMD) gene located on the short arm of the X chromosome.

Motor function, cognition, functional independence and quality of life have been described in myelomeningocele patients, but no study has investigated their relationships. We aimed to investigate the relationships between motor function, cognition, functional independence, quality of life, age, and lesion level in myelomeningocele patients, and investigate the influence of hydrocephalus on these variables. We assessed 47 patients with the Gross Motor Function Measure (motor function), Raven’s Colored Progressive Matrices (cognition), Pediatric Evaluation of Disability Inventory (functional independence) and the Autoquestionnaire Qualité de vie Enfant Imagé (quality of life). Spearman’s correlation tests determined relationships between the variables. The Friedman ANOVAs determined the influence of hydrocephalus. Motor function was strongly related to mobility and lesion level, and moderately related to cognition, self-care and social function. Cognition and quality of life were moderately related to functional independence. Age correlated moderately with functional independence and quality of life. Hydrocephalus resulted in poorer motor/cognitive outcomes and lower functional independence.

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