Intervenção neurofuncional pediátrica em agenesia do corpo caloso: relato de caso / Pediatric neurofunctional intervention in agenesis of the corpus callosum: a case report

Objetivo: Descrever um relato clínico pré e pós-intervenção neurofuncional num caso de agenesia de corpo caloso. Descrição do caso: Após o nascimento prematuro foi detectada agenesia do corpo caloso e hipoplasia dos ventrículos laterais e vérmis cerebelar. Aos dois anos iniciou a intervenção proposta neste estudo. Uma avaliação neurofuncional, além da Medida da Função Motora Grossa e o Sistema de Classificação da Função Motora Grossa, foi utilizada para obter o desempenho funcional da criança. Na avaliação inicial havia ausência de reações de equilíbrio e de transferências posturais, e déficits no controle manual e de tronco. A intervenção foi realizada com enfoque na função, priorizando o controle postural e a orientação da familia para continuidade do tratamento em ambiente domiciliar. Após a intervenção houve melhora das reações corporais, controle postural e aquisição de movimentos de mãos e membros. A intervenção também mostrou melhora no desempenho funcional. Comentários: O controle postural e as transferências de posições foram beneficiadas por intervenção neurofuncional nesse paciente com agenesia de corpo caloso. O enfoque baseado na função com atividades que envolvem fortalecimento muscular e treinamento das reações de equilíbrio influenciaram a aquisição do comportamento motor mais seletivo...

Objective: To describe a clinical report pre- and post-neurofunctional intervention in a case of agenesis of the corpus callosum. Case description: Preterm infant with corpus callosum agenesis and hypoplasia of the cerebellum vermis and lateral ventricles, who, at the age of two years, started the proposed intervention. Functional performance tests were used such as the neurofunctional evaluation, the Gross Motor Function Measure and the Gross Motor Function Classification System. In the initial evaluation, absence of equilibrium reactions, postural transfers, deficits in manual and trunk control were observed. The intervention was conducted with a focus on function, prioritizing postural control and guidance of the family to continue care in the home environment. After the intervention, there was an improvement of body reactions, postural control and movement acquisition of hands and limbs. The intervention also showed improvement in functional performance. Comments: Postural control and transfers of positions were benefited by the neurofunction intervention in this case of agenesis of the corpus callosum. The approach based on function with activities that involve muscle strengthening and balance reactions training, influenced the acquisition of a more selective motor behavior...

Agenesia del cuerpo calloso. Discordancia clínico-radiológica. Análisis tras 15 años de experiencia / Agenesis of the corpus callosum. Clinical-radiological discordance. Analysis after 15 years of experience

Introducción. La agenesia del cuerpo calloso (ACC) supone una desconexión interhemisférica por falta de formación de dicha estructura en el desarrollo embrionario. Prevalencia: 0,3-0,5% en población general y 2,3% en personas con discapacidad. Se asocia a prematuridad y edad materna avanzada. Clínica muy variable.Puede confirmarse con RMN. Nuestro objetivo es determinar: 1) la correlación entre las anomalías del CC en neuroimagen y en la clínica y 2) averiguar factores influyentes en estas diferencias. Material y métodos. Estudio retrospectivo (15 años) de casos de ACC de una Unidad de Rehabilitación Infantil. Los datos epidemiológicos, clínicos e imaginológicos recogidos se confrontaron entre sí y se compararon con la bibliografía. Resultados. El 75% eran mujeres. La edad media de la primera y última revisión, fue 1,8 y 10,7 años, respectivamente. Los motivos de consulta principales fueron alteraciones ortopédicas o neuromotoras. No existían antecedentes obstétricos de interés en el 75%. En la clínica, encontramos: retraso psicomotor (37%), alteración del lenguaje (31%), dificultad para marcha o la manipulación (57%), malformaciones axiales (25%). Las patologías periféricas predominantes se dieron en pies y caderas. La prueba complementaria más frecuentemente solicitada fue la RMN. El 75% asociaba otras malformaciones cerebrales.Tratamiento prescrito: fisioterapia (100%), férulas (75%), silla de ruedas (50%), tratamiento logopédico y/o quirúrgico (25%). Evolución: 87% favorable. Conclusiones. 1) La RMN puede ayudar al diagnóstico inicial y despistaje de malformaciones asociadas, pero no siempre se correlaciona con la clínica y no puede servirnos de medidor pronóstico. 2) La ACC puede ser grave a nivel neurológico, psicológico y motriz, sin embargo, en ocasiones cabe esperar una evolución favorable (AU)

Introduction. The agenesis of the corpus callosum (ACC) implies an interhemispheric disconnection due to the lack of formation of said structure in the embryo development. Prevalence: 0.3-0.5% in the general population and 2.3% on in persons with disability. It is associated to prematurity and older maternal age. The clinical variable varies greatly and can be confirmed with the MRI. Our objective has been to determine 1) the correlation between abnormalities in neuroimaging and in the clinical features and 2) to discover the factors influencing these differences. Material and methods. A retrospective study (15 years) of cases of ACC in a Children's Rehabilitation Unit. The epidemiological, clinical and imaging data collected were compared to each other and with the literature. Results. A total of 75% were women. Average age of the first and last check-up was 1.8 and 10.7 years, respectively. The main reasons of the consultations were orthopedic or neuro-motor disorders. There were no obstetric backgrounds of interest (75%). At the clinical features, we found psychomotor retardation (37%), language disturbance (31%), difficulty to walk or with manual handling (57%), axial malformations (25%). The predominant peripheral neuropathy occurred in feet and hips. The most frequently requested complementary test was an MRI. A total of 75% were associated with other brain malformations. Treatment prescribed: physiotherapy (100%), splints (75%), wheelchair (50%), speech therapy treatment and/or surgery (25%). Evolution: 87% favorable. Conclusions. 1) MRI can help the initial diagnosis and screening of associated malformations, but does not always correlate with the clinical features and cannot be used by us to gauge prognosis. 2) The ACC may be serious on the neurological, psychological and motor level, however sometimes we can expect a favorable outcome (AU)

Corpus callosum agenesis and rehabilitative treatment.

Corpus callosum agenesis is a relatively common brain malformation. It can be isolated or included in a complex alteration of brain (or sometimes even whole body) morphology. It has been associated with a number of neuropsychiatric disorders, from subtle neuropsychological deficits to Pervasive Developmental Disorders.Etiology and pathogenetic mechanisms have been better understood in recent years, due to the availability of more adequate animal models and the relevant progresses in developmental neurosciences. These recent findings are reviewed (through a MedLine search including papers published in the last 5 years and most relevant previously published papers) in view of the potential impact on children's global functioning and on the possible rehabilitative treatment, with an emphasis on the possibility to exploit brain plasticity and on the use of the ICF-CY framework.