The structure of participants' turn-transition practices in aided conversations that use speech-output technologies.

Using the concepts and principles of conversation analysis (CA), this paper examines the everyday, unscripted, spontaneous conversations between 4 males who communicated with the aid of speech-output technologies and their mothers. The analyses focused on describing the conversationalists' various actions in aided turn-transition processes, resulting in a 3-part turn-transition structure used to accomplish aided turn initiation. Despite the challenges to conversational progress, the participants did not consider the conversational speed a challenge. The participants and their mothers were oriented to the progression of the aided conversation by creating interaction practices to achieve successful turn-transitions. By understanding the structural characteristics of fluent aided conversations, it may be possible to develop effective interaction strategies for communication partners and for augmentative and alternative communication technologies that are intentionally designed to facilitate interactive communication.

Diapause induces functional axonal regeneration after necrotic insult in C. elegans.

Many neurons are unable to regenerate after damage. The ability to regenerate after an insult depends on life stage, neuronal subtype, intrinsic and extrinsic factors. C. elegans is a powerful model to test the genetic and environmental factors that affect axonal regeneration after damage, since its axons can regenerate after neuronal insult. Here we demonstrate that diapause promotes the complete morphological regeneration of truncated touch receptor neuron (TRN) axons expressing a neurotoxic MEC-4(d) DEG/ENaC channel. Truncated axons of different lengths were repaired during diapause and we observed potent axonal regrowth from somas alone. Complete morphological regeneration depends on DLK-1 but neuronal sprouting and outgrowth is DLK-1 independent. We show that TRN regeneration is fully functional since animals regain their ability to respond to mechanical stimulation. Thus, diapause induced regeneration provides a simple model of complete axonal regeneration which will greatly facilitate the study of environmental and genetic factors affecting the rate at which neurons die.

[Timely consideration of future care; advance care planning for people with intellectual disabilities]. / Tijdig nadenken over toekomstige zorg.

People with intellectual disabilities (IDs) are often unable to decide for themselves regarding complex medical decisions, and need assistance from representatives, often next-of-kin. People with IDs are often frail. This frailty is characterized on the one hand by health problems, on the other hand by significant limitations in both intellectual functioning and in adaptive behaviour. In this group of people, when compared to the general population, the principles of palliative care are applicable more often and over a longer period. Advance care planning should be considered not only at the end of life, but at each stage where decisions have to be made that may affect quality of life. In this article, we present three patient cases to illustrate the complexity of the process and the commitment of representatives and other key stakeholders.

Efecto de la electroestimulación orofaríngea sobre la sialorrea en pacientes con malformaciones congénitas del sistema nervioso central / Effect of oropharyngeal electro-stimulation, about sialorrhea in patients with birth malformations of nervous central system

Objetivo: Evaluar los efectos de la electroestimulación orofaríngea sobre la sialorrea en pacientes con malformaciones congénitas del sistema nervioso central (SNC). Material y método: Estudio cuasi-experimental, prospectivo, analítico y longitudinal, en el que se incluyeron 10 pacientes de ambos sexos, de entre 3 y 7 años de edad, con malformaciones congénitas del SNC y sialorrea. Se excluyó a los pacientes con dermatitis, crisis convulsivas no controladas y con aplicación previa de toxina botulínica. Se aplicó electroestimulación orofaríngea, 20 sesiones por paciente, en un periodo promedio de 7,5 meses. Inició y finalizó el estudio el mismo número de pacientes. Se evaluó a los pacientes con tres tipos de escalas: oral motora, frecuencia y severidad de la sialorrea. Los resultados fueron analizados con el paquete estadístico IBM SPSS versión 15, y se aplicó la prueba de Friedman. Resultados: En la escala oral motora se encontró una mejora en los parámetros evaluados (p= 0,001) y en la de severidad de la sialorrea una disminución significativa (p= 0,002), y en la de frecuencia de la sialorrea los cambios observados también fueron significativos (p= 0,004). Conclusiones: La electroestimulación orofaríngea es una herramienta alternativa, útil para disminuir la frecuencia y la severidad de la sialorrea en los pacientes con malformaciones congénitas del SNC (AU)

Objective: To evaluate the effects of the oropharyngeal electro-stimulation about the sialorrhea in patients with birth malformations of the nervous central system. Material and method: Almost experimental study, prospective, analytic and longitudinal, it is included 10 patients both sexs, between 3 and 7 years old with birth malformations of the nervous central system and sialorrhea; it is excluded to the patients with dermatitis, uncontrolled seizures and those that previously they had application of botulinum toxin. It applied oropharyngeal electro-stimulation, 20 sessions by patient, in an average period of 7.5 months. The same number of patients that who began, they completed the study. It was evaluated with three types of scale, the motor oral, of the frequency and the severity of the sialorrhea, the results were analyzed with the statistical package IBM SPSS version 15, it applied the Friedman test. Results: In the oral motor scale, it was found an improvement in the evaluated parameters with a significance (p= 0.001), in the severity of the sialorrhea it presented a significant decrease (p= 0.002), and in the frequency of the sialorrhea the change observed it was also significant (p= 0.004). Conclusions: Electro-stimulation is an alternative, useful tool to the decrease of the frequency and severity of the sialorrhea in the patients with birth malformations of nervous central system (AU)

[Brainstem dysgenesis: functional prognosis and rehabilitative treatment. A series of nine cases]. / Disgenesias del tronco encefalico: pronostico funcional y tratamiento rehabilitador. Serie de nueve casos.

INTRODUCTION: Brainstem dysgenesis is a heterogeneous clinical entity, with low incidence and high clinical variability, which affects structures in the brainstem. Diagnosis is based on the combination of symptoms, neuroimaging and neurophysiological studies. AIM: To determine the common clinical features, functional prognosis and rehabilitative treatment needs in a group of children with brainstem dysgenesis. PATIENTS AND METHODS: Observation-based retrospective study of nine patients diagnosed with brainstem dysgenesis monitored in an outpatients department. RESULTS: The mean age of the patients was 5.5 years. Five presented alterations in the neuroimaging scan and, in the five with a neurophysiological study, the results showed it to be altered. Six presented muscular hypotonia, eight had amimia/hypomimia, six had central hypoacusis and five had gastrostomy. A third of them presented an episode of cardiorespiratory arrest. Delayed psychomotor skills were detected in all cases. Currently five of them are capable of walking autonomously indoors and four of them outdoors. A high percentage of them (77.7%) understand simple orders and are capable of communicating (66.6%). CONCLUSIONS: Alterations affecting the cranial nerves and muscle tone together with dysphagia are the most common manifestations in our population. The risk of bronchial aspiration and cardiorespiratory arrest is a threat to the lives of these patients. All the children present psychomotor retardation and half of them manage to accomplish autonomous walking. Given the diversity of the disability displayed by these patients, we believe a personalised, integral rehabilitative treatment is needed to obtain an optimal level of functioning. Further studies with wider samples are required to be able to obtain homogeneous groups and to establish the functional prognosis and needs in terms of rehabilitative treatment.

TITLE: Disgenesias del tronco encefalico: pronostico funcional y tratamiento rehabilitador. Serie de nueve casos.Introduccion. La disgenesia del tronco encefalico es una entidad clinica heterogenea, de baja incidencia y alta variabilidad clinica, que afecta a estructuras del tronco del encefalo. La combinacion de sintomatologia, neuroimagen y estudios neurofisiologicos es la base diagnostica. Objetivo. Conocer las caracteristicas clinicas comunes, pronostico funcional y necesidades de tratamiento rehabilitador en un grupo de niños con disgenesia del tronco encefalico. Pacientes y metodos. Estudio retrospectivo observacional de nueve pacientes diagnosticados de disgenesia del tronco encefalico controlados en consultas externas. Resultados. La edad media de los pacientes era de 5,5 años. Cinco presentaron alteraciones en la neuroimagen y, en los cinco con estudio neurofisiologico, este estaba alterado. Seis presentaron hipotonia muscular; ocho, amimia/hipomimia; seis, hipoacusia central, y cinco, gastrostomia. Un tercio presento un episodio de parada cardiorrespiratoria. En todos se detecto retraso psicomotor. Actualmente cinco realizan marcha autonoma por interiores y cuatro de ellos por exteriores. Un porcentaje elevado (77,7%) comprende ordenes simples y es capaz de comunicarse (66,6%). Conclusiones. Las alteraciones de los pares craneales, del tono muscular y la disfagia son las manifestaciones mas comunes en nuestra poblacion. El riesgo de broncoaspiracion y parada cardiorrespiratoria supone una amenaza vital para estos pacientes. Todos los niños presentan retraso psicomotor y la mitad de ellos alcanza marcha autonoma. Dada la diversidad de discapacidad que presentan estos pacientes, consideramos necesario un tratamiento de rehabilitacion integral e individualizado para conseguir un nivel funcional optimo. Necesitamos estudios con muestras mas amplias para obtener grupos homogeneos y establecer el pronostico funcional y las necesidades de tratamiento rehabilitador.

Pediatric outcome of children with the prenatal diagnosis of isolated septal agenesis.

BACKGROUND: Isolated Septal Agenesis (SA) is a rare disease with clinical outcomes (especially neurological outcomes) that are unknown. The purpose of this study was to evaluate the clinical outcome of these children. METHODS: We conducted a retrospective multicenter study of 17 children with an isolated SA or SA combined with a moderate ventricular dilatation (VD) that was diagnosed antenatally and confirmed by a magnetic resonance imaging (MRI) performed in the antenatal period. RESULTS: Of the 17 children, 14 had normal neurological examinations, 2 had language development delay and visuo-spatial dyspraxia, and 3 of the 17 children had behavioral problems. Eight children had neuropsychological evaluations, and the results were normal in six cases. There were 3 cases of septo-optic dysplasia (SOD) diagnosed postnatally, which highlighted the difficulties in assessing the optic tract and hypothalamic-pituitary region in antenatal imaging. Language delay and behavioral disorders were the main abnormalities at follow-up. CONCLUSION: The discovery of an isolated SA reveals the difficulties of prenatal diagnosis to correlate the neurological and functional prognosis to morphological findings. The prognosis seemed to be good. It appears necessary to improve the diagnostic performance of fetal brain imaging and to follow-up these children prospectively to assess their long-term cognitive-behavioral outcomes.

[Application and comparison of NDT-Bobath and Vojta methods in treatment of selected pathologies of the nervous system in children]. / Zastosowanie i porównanie metod NDT- Bobath i Vojty w leczeniu wybranych patologii ukladu nerwowego u dzieci.

The paper compares effectiveness of NDT-Bobath and Vojta methods in the treatment of selected dysfunctions of the nervous system in children. It evaluates applicability of both methods in prenatal and perinatal injury of the central nervous system, myelomeningocele, Down syndrome and spasticity. The existing literature is supplemented by own clinical experience of the authors. The paper forms the opinion on the constant debates on the superiority of one method over another.