Revisión bibliográfica sobre la sintomatología cognitiva en la malformación de Chiari tipo I

Chiari malformation (CM) is a rare pathology with low prevalence. CM is within the group of malformations of the craniocervical junction, it is an anatomical alteration of the cranial base. There are considered to be 6 types of CM, being MC type I the most common one.  The symptomatology can be very varied, having been reported cases of totally asymptomatic patients and others with serious neurological affections. Furthermore, recent research shows that congenital pathologies of the cerebellum such as CM can be accompanied by neuropsychological deficits. It is difficult to diagnose it due to the complexity of the lesion and the symptoms present in patients. However, the diagnosis is made by neuroimaging techniques, being the most widely used technique the magnetic resonance. Regarding to treatment, surgery is one of the main actions to be carried out after the diagnosis of CM. This review presents an exhaustive analysis of the existing literature on the cognitive functions affected of type I MC. It also describes the effects of surgical treatments on neuropsychological symptoms. The results show the presence of cognitive deficits; however, there is no agreement about exactly what cognitive functions are affected.La malformación de Chiari (MC) es una patología rara de baja prevalencia y cuya patogenia actualmente sigue siendo objeto de debate. La MC está dentro del grupo de las malformaciones de la unión craneocervical, es una alteración anatómica de la base craneal. A día de hoy se considera que hay 6 tipos de MC, siendo la MC tipo I la más común. La sintomatología puede ser muy variada habiéndose reportado casos de pacientes totalmente asintomáticos y otros con graves afecciones de tipo neurológicas. Recientes investigaciones manifiestan que las patologías congénitas del cerebelo como la MC, pueden acompañarse de déficits neuropsicológicos. Es de difícil diagnóstico debido a la complejidad de la lesión y sintomatología presente en los pacientes. No obstante, el diagnóstico se realiza mediante técnicas de neuroimagen siendo la técnica más utilizada la resonancia magnética. En cuanto al tratamiento, la cirugía es una de las principales actuaciones a llevar a cabo ante el diagnóstico de MC. Esta revisión presenta un análisis exhaustivo de la literatura existente sobre las funciones cognitivas afectadas de la MC tipo I. Asimismo, realiza una descripción de los efectos de los tratamientos quirúrgicos en la sintomatología neuropsicológica. Los resultados evidencian la presencia de déficits cognitivos; sin embargo, no hay acuerdo sobre cuáles son exactamente las funciones cognitivas afectadas

Intrusion errors during verbal fluency task in amyotrophic lateral sclerosis.

BACKGROUND:Numerous studies have noted the presence of a dysexecutive component of the ALS-FTD. The most widely replicated result refers to the significantly reduced verbal fluency of ALS patients when compared to healthy people. As ALS patients have motor alterations that interfere with production, qualitative studies have the advantage of being independent of the degree of motor disability and revealing patients' cognitive state. This study examined the production differences between 42 ALS patients who presented with different degrees of dementia and motor impairment and 42 healthy people. Production processes were studied by extending the administration time of a letter fluency task to 2 minutes for the phonemic verbal fluency (PVF) and semantic verbal fluency (SVF) categories. This ensured that the qualitative aspects of verbal fluency were addressed, paying special attention to the new perseverations and intrusions, as well as any clinical correlates that may exist. RESULTS:The ALS patients produced a significantly lower number of responses in PVF (p = .017) and SVF (p = .008). The rest of the indicators for frontal lobe alteration also suggested the existence of a dysfunction. The most remarkable results were the number of intrusions on the PVF task, which was much higher in the ALS group (p = .002). However, the number of perseverations did not differ significantly. CONCLUSIONS:This study highlights the value of intrusions in addressing cognitive deterioration in ALS patients. This deterioration seems to be independent of the degree of motor impairment and of behavioural alterations. Therefore, the value of the intromissions on the verbal fluency task was highlighted as an indicator of a new cognitive alteration, which can be easily evaluated, even retrospectively

Diseases Costs and Impact of the Caring Role on Informal Carers of Children with Neuromuscular Disease

This study aims to evaluate the costs of informal care for children with neuromuscular disease and evaluate how physical and psychological health is associated with socio-demographic variables. A cross sectional design was used with a convenience sample of 110 carers that participated in this study. Participants were recruited from Spanish hospitals and rare diseases organizations. Economic costs and sociodemographic aspects were assessed using the economic costs questionnaire and the sociodemographic questionnaire. Physical and psychological health was evaluated using the CarerQol-7D, PHQ-15, Barthel Index, Zarit Overload Scale and Satisfaction with Life Scale. Carers of children with neuromuscular disease spent a large percentage of their annual income in physical therapy, psychological care and speech therapy. Informal costs differed according to the degree of dependency of the child. These were higher in those caregivers whose child under their care presented low functional independence. The loss of work productivity was related to marital status, use of professional services and the child’s dependency. Finally, carers who were female, single or separated and without a job showed worse physical and psychological health. The results highlighted that carers have to face a number of high costs because of the non-existence of social protection and due to the child’s diagnosis