RESUMO
INTRODUCTION: Myelomeningocele is a neural tube defect resulting in motor and sensory deficit below the level of the lesion, bowel and neurogenic bladder, sexual dysfunction, cognitive dysfunction, neurodevelopment delay and motor skills disability. During the past decades, hand function impairment has been described in myelomeningocele patients, probably due to central nervous system abnormalities. AIM. To determine the occurrence of upper limb impairment and additional central nervous system abnormalities in patients with myelomeningocele. SUBJECTS AND METHODS: A transversal study including 33 patients with myelomeningocele, 6 years and older, referred to pediatric rehabilitation program at Sarah Network of Rehabilitation Hospital (Fortaleza, Brazil), and 33 control subjects. All patients underwent brain and spinal cord magnetic resonance imaging. RESULTS: Hydrocephalus, Chiari type II malformation with or without kinking of the medullocervical junction, hydrosyringomyelia, spinal cord and brain atrophy were the most common central nervous system abnormalities. Dysmetria, evaluated by the Index-Index Test, was exhibited by 87.9% of the patients and 21.2% of them exhibited dysdiadochokinesia. The mean hand grip strength of the myelomeningocele group was significantly lower compared with the control group (p < 0,001). CONCLUSIONS: High occurrence of upper limb dysfunction and additional central nervous system abnormalities was detected in patients with myelomeningocele, supporting previous studies. Further investigation is still necessary to elucidate the upper limb impairment impact on the daily live activities of the patient with myelomeningocele.
Assuntos
Anormalidades Múltiplas , Braço/fisiopatologia , Sistema Nervoso Central/anormalidades , Meningomielocele/complicações , Adolescente , Adulto , Criança , Estudos Transversais , Feminino , Humanos , MasculinoRESUMO
INTRODUCTION: The Duchenne's progressive muscular dystrophy (DMD) is a genetic disease that happens in people from the male sex, characterized for the progressive muscular weakness that takes to the lost of gait between 8-12 years old and to death usually in the end of the adolescence. At present, there is no effective treatment for disease, the efforts had been taken to retard the progression of disease and improve the quality of life (QoL). AIM: To evaluate the QoL in children with DMD and their caregivers, identifying the most prominent QoL domains according to their perception. PATIENTS AND METHODS: Fourteen children diagnosed with DMD and their caregivers were enrolled in this descriptive study, with qualitative and quantitative analysis. The mean age was 9.9 years. The AUQEI (Autoquestionnaire Qualite de vie Enfant Image) questionnaire and AUQEI qualitative were used to collect the data. RESULTS: The results showed a good QoL perception among DMD children and a strong agreement between children and their caregivers especially regarding to the happiness requirements question. The most import life domains identified were physical function, family and leisure activity. CONCLUSION: These findings allow us to understand the QoL perception in a group of children with DMD, and may contribute to improvement of their QoL preserving their natural childhood development.