[Abnormalities in the central nervous system and alterations in the upper limbs in patients with myelomeningocele]. / Anormalidades del sistema nervioso central y alteraciones de los miembros superiores en pacientes con mielomeningocele.

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.

Anormalidades del sistema nervioso central y alteraciones de los miembros superiores en pacientes con mielomeningocele / Abnormalities in the central nervous and alterations in the upper limbs in patients with myelomeningocele

El mielomeningocele es un defecto del cierre del tubo neural cuyo cuadro clínico incluye déficit defuerza muscular y sensibilidad por debajo del nivel de la lesión, vejiga e intestino neurogénicos, disfunción sexual, déficit cognitivo, retraso en el desarrollo neuropsicomotor y lentitud en la realización de actos motores. En las últimas décadas se ha documentadoel perjuicio de la función manual, que puede deberse principalmente a anormalidades asociadas al sistema nervioso central. Objetivo. Describir las alteraciones de los miembros superiores y anormalidades del sistema nervioso central en pacientes con mielomeningocele. Sujetos y métodos. Estudio transversal donde participaron 33 pacientes con mielomeningocele,de edad superior a 6 años, en seguimiento en el Centro de Rehabilitación Sarah Fortaleza, Brasil, junto con 33 sujetos control. Todos los pacientes se sometieron a resonancia magnética de encéfalo y médula. Resultados. Hidrocefalia, malformación de Chiari tipo II con o sin kinking cervicomedular, hidrosiringomielia y atrofia medular y cerebral fueron las anormalidadesmás encontradas. Se halló dismetría, evaluada a través del test índice-índice, en el 87,9% de los pacientes, y disdiadococinesia en el 21,2%. La media de la fuerza de prensión de los pacientes con mielomeningocele fue significativamente inferior a la del grupo de control (p < 0,001). Conclusiones. Se detectó una alta ocurrencia de anormalidades del sistema nerviosocentral y alteraciones de los miembros superiores en los pacientes con mielomeningocele, corroborando estudios previos. Se precisan investigaciones futuras para evaluar el impacto de las alteraciones de los miembros superiores en las actividades de la vida diaria

Myelomeningocele is a neural tube defect resulting in motor and sensory deficit below the level of thelesion, 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 dueto 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 ofRehabilitation 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

[Evaluation of the quality of life of children with Duchenne's progressive muscular dystrophy]. / Evaluacion de la calidad de vida de los ninos con distrofia muscular progresiva de Duchenne.

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.

Evaluación de la calidad de vida de los niños con distrofia muscular progresiva de Duchenne / Evaluation of the quality of life of children with Duchenne´s progresiive muscular dystrophy

Introducción. La distrofia muscular progresiva del tipo Duchenne (DMD) es una enfermedad genética que acomete a individuos del sexo masculino, caracterizada por flaqueza muscular progresiva que lleva a la pérdida de la marcha entre los 8-12 años y al óbito generalmente al final de la adolescencia. Como no existe hasta el momento tratamiento que posibilite la cura, los esfuerzos están dirigidos a retardar la progresión de la dolencia y mejorar la calidad de vida (CV). Objetivo. Evaluar la CV en niños con DMD, establecer la concordancia entre los niños y sus cuidadores e identificar los dominios más relevantes de la CV de los niños según la percepción de los mismos y de sus cuidadores. Pacientes y métodos. Participaron en el estudio 14 pacientes con diagnóstico de DMD, así como su principal cuidador. La edad media de los niños fue de 9,9 años. Se trata de una investigación descriptiva con aspectos cuantitativos y cualitativos. Los instrumentos utilizados para la recogida de datos fueron: cuestionario AUQEI (Autoquestionnaire Qualité de vie Enfant Imagé) y AUQEI cualitativo. Resultados. Se evidenció que los niños con DMD mostraron una buena percepción de la CV, y hubo concordancia entre los niños y sus cuidadores, principalmente en relación con los motivos que producen felicidad. Los dominios más representativos fueron función, familia y ocio. Conclusión. Estos hallazgos posibilitaron conocer la percepción de la CV de un grupo de niños con DMD, lo que podrá contribuir al desarrollo de actividades que tengan el objetivo de mejorar la CV, respetando el contexto natural de la infancia

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 Qualité de vie Enfant Imagé) 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