Neuropsychological profile and social cognition in congenital central hypoventilation syndrome (CCHS): Correlation with neuroimaging in a clinical case.

INTRODUCTION: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder due to paired-like homeobox gene (PHOX2B) mutations. CCHS patients suffer from dysregulation of the autonomic nervous system characterized by the absence of or extremely reduced response to hypercapnia and hypoxia, with neuropsychological deficits. The aim of this exploratory study is to describe the longitudinal neuropsychological profile and its correlations with magnetic resonance imaging (MRI) of a child with CCHS with a PHOX2B mutation. METHOD: A comprehensive neuropsychological evaluation was conducted serially at age 7 years 4 months and 10 years 3 months, including assessment of intellectual functioning (IQ), motor functioning, perception, attention, executive functions, language, memory, social cognition, academic skills, and psychopathology. Reliable change index (RCI) scores were used to assess changes between assessments. We collected spin lattice relaxation time (T1)-weighted, fluid-attenuated inversion recovery (FLAIR), and spin spin lattice relaxation time (T2)-weighted images from the child at age 10 years 3 months using a 1.5-tesla MRI scanner. RESULTS: IQ, processing speed index (PSI), social cognition (theory of mind and facial emotion recognition), selective attention, naming, academic skills (reading/comprehension), and manual speed with right hand declined in the second evaluation relative to the initial evaluation, while visuoconstructional praxis, receptive vocabulary, working memory, and arithmetic skill improved. The patient showed a remarkable global deterioration in executive functions (planning, task flexibility, behavioral regulation, and metacognition) as revealed by parental report and clinical evaluation. MRI revealed gliosis from the head to tail of the hippocampus and thinning of parahippocampal gyri. CONCLUSIONS: In a clinical case of CCHS, serial evaluation revealed deterioration of executive functions and social cognition over a 3-year interval. These changes corresponded to hippocampal damage as revealed in MRI, which may have affected social cognition through its role in the default mode network. Serial neuropsychological assessment is clinically useful in managing the needs of these patients.

[A descriptive study of the neuropsychological and psychopathological profile in patients with type 1 myotonic dystrophy]. / Estudio descriptivo del perfil neuropsicologico y psicopatologico en pacientes con distrofia miotonica tipo 1.

INTRODUCTION: Type 1 myotonic dystrophy (MD-1) or Steinert disease is a multisystemic progressive disorder. Studies have shown cognitive deficits, depressive symptoms and a high incidence of anxiety personality traits that compromise both the functionality and the quality of life of these patients. AIM: To describe the cognitive and psychopathological profile of a sample of patients with the adult variant of MD-1. PATIENTS AND METHODS: A sample of 27 patients diagnosed with MD-1 was selected from those being followed up in the neurology service of the Complejo Hospitalario de Navarra. Eligibility criteria were age under 50 years and the absence of any other pathology or physical condition that prevented them from performing the psychological evaluation. A neuropsychological evaluation battery specifically designed for this kind of pathology was used, together with psychopathological and functionality measures. RESULTS: The neuropsychological evaluation revealed mainly deficits in visual-constructional and visuospatial skills, alternating attention and in other-reported dysexecutive signs and symptoms. The group of patients did not present any clinically significant symptoms of depression or anxiety, but did score high on obsession-compulsion, interpersonal sensitivity, paranoid ideation and psychoticism. The results point towards a deterioration in functionality. CONCLUSIONS: In the integral approach to MD-1, the characterisation and developmental monitoring of the cognitive, psychopathological and personality profile, as well as the level of functionality, all contribute to an improvement in the quality of life of these patients.

TITLE: Estudio descriptivo del perfil neuropsicologico y psicopatologico en pacientes con distrofia miotonica tipo 1.Introduccion. La distrofia miotonica tipo 1 (DM-1) o enfermedad de Steinert es un trastorno multisistemico y progresivo. Se han encontrado deficits cognitivos, clinica depresiva y alta incidencia de rasgos de personalidad ansiosos con afectacion tanto en la funcionalidad como en la calidad de vida de estos pacientes. Objetivo. Describir el perfil cognitivo y psicopatologico de una muestra de pacientes con la variante adulta de DM-1. Pacientes y metodos. Se selecciono una muestra de 27 pacientes con diagnostico de DM-1 en seguimiento en el Servicio de Neurologia del Complejo Hospitalario de Navarra. Los criterios de inclusion fueron tener menos de 50 anos y descartar cualquier otra patologia o condicion fisica que impidiese realizar la evaluacion psicologica. Se utilizo una bateria de evaluacion neuropsicologica especificamente disenada para este tipo de patologia, ademas de medidas de psicopatologia y funcionalidad. Resultados. La evaluacion neuropsicologica reflejo, principalmente, deficits en habilidades visuoconstructivas, visuoespaciales, atencion alternante y en sintomatologia disejecutiva heteroinformada. El grupo de pacientes no presento sintomatologia depresiva ni ansiosa clinicamente significativa, pero si puntuaciones elevadas en obsesion-compulsion, sensibilidad interpersonal, ideacion paranoide y psicoticismo. Los resultados orientaron hacia un deterioro en la funcionalidad. Conclusiones. En el abordaje integral de la DM-1, la caracterizacion y el seguimiento evolutivo del perfil cognitivo, psicopatologico y de personalidad, asi como del nivel de funcionalidad, contribuyen a la mejora de la calidad de vida de estos pacientes.

[Proposal for a neuropsychological cognitive evaluation battery for detecting and distinguishing between mild cognitive impairment and dementias]. / Propuesta de una bateria neuropsicologica de evaluacion cognitiva para detectar y discriminar deterioro cognitivo leve y demencias.

The early and etiological diagnosis of dementia syndrome in the clinical practice remains the neuropsychological assessment through the study of the cognitive profile of the patient and the qualitative and quantitative analysis of the functions, both impaired and preserved. In this article, we describe a neuropsychological battery of cognitive evaluation to detect mild cognitive impairment in any of its clinical forms and dementia; as well as discriminate between the main profiles of dementia syndrome, based on its topographic and etiological classification (frontotemporal, temporoparietal, subcortical, cortico-subcortical and multifocal). This battery is implemented in the neuropsychological assessment specialized surgery from Navarra Hospital Center Neurology Service. Not only the tests that form the assessment protocol are presented, but also the theoretical models that are considered more appropriate for their interpretation.

TITLE: Propuesta de una bateria neuropsicologica de evaluacion cognitiva para detectar y discriminar deterioro cognitivo leve y demencias.El diagnostico precoz y etiologico del sindrome demencial en la practica clinica sigue siendo la evaluacion neuropsicologica mediante el estudio del perfil cognitivo del paciente y el analisis cualitativo y cuantitativo de las funciones, tanto deficitarias como preservadas. En este articulo se describe una bateria neuropsicologica de evaluacion cognitiva para detectar deterioro cognitivo leve en cualquiera de sus formas clinicas y demencia, y para discriminar entre los principales perfiles del sindrome demencial en funcion de su clasificacion topografica y etiologia (frontotemporales, temporoparietales, subcorticales, corticosubcorticales y multifocales). Esta bateria se implementa en la consulta especializada de evaluacion neuropsicologica del Servicio de Neurologia del Complejo Hospitalario de Navarra. Se exponen no solo las pruebas que componen el protocolo de evaluacion, sino los modelos teoricos que se consideran mas apropiados para su interpretacion.

[The role of the neuropsychologist in neurology services: a descriptive study of the users of the specialised neurological assessment unit of the Hospital Complex of Navarra during its first year in service]. / Papel del neuropsicologo en los servicios de neurologia: estudio descriptivo de los usuarios de la consulta especializada de evaluacion neuropsicologica del Complejo Hospitalario de Navarra en su primer año de funcionamiento.

INTRODUCTION. A large number of neurological diseases course with impairment of higher cognitive functions, their evaluation being important for diagnostic, prognostic and therapeutic purposes. The main purpose of neuropsychological assessment is to identify behavioral, emotional and cognitive consequences of brain dysfunction. The neuropsychologist's figure was included in Navarra's Hospital Neurology Service in February 2013 through a specialized practice in neuropsychological assessment. AIM. To describe the sociodemographic and clinical profile of all patients referred to the same from March 2013 to March 2014. PATIENTS AND METHODS. A total of 511 people have been treated in this practice. RESULTS. 73.2% are more than 55 years old and the most frequent reason of referral is to characterize the neuropsychological profile to detect and discriminate mild cognitive impairment and dementia, as well as the type of dementia. In younger adults (< 55 years old) the most prevalent cognitive deficit is memory impairment. CONCLUSIONS. The expert neuropsychologist performs thorough neuropsychological evaluations from an interpretative approach. The results of this study suggest the importance of this figures role in neurology services and point out future aims.

TITLE: Papel del neuropsicologo en los servicios de neurologia: estudio descriptivo de los usuarios de la consulta especializada de evaluacion neuropsicologica del Complejo Hospitalario de Navarra en su primer año de funcionamiento.Introduccion. Un gran numero de patologias neurologicas cursa con afectacion de las funciones cognitivas superiores, y su valoracion es importante con fines diagnosticos, pronosticos y terapeuticos. El principal objetivo de la evaluacion neuropsicologica es identificar las consecuencias conductuales, emocionales y cognitivas de la disfuncion cerebral. La figura del neuropsicologo se incluyo en el servicio de neurologia del Complejo Hospitalario de Navarra en febrero de 2013 a traves de una consulta especializada de evaluacion neuropsicologica. Objetivo. Describir el perfil sociodemografico y clinico del total de pacientes derivados a consulta de marzo de 2013 a mar­zo de 2014. Pacientes y metodos. Se ha atendido a un total de 511 personas en esta consulta. Resultados. El 73,2% tiene mas de 55 años y el motivo de derivacion mas frecuente es la caracterizacion del perfil neuropsicologico para detectar y discriminar deterioro cognitivo leve y demencia, asi como el tipo de demencia. En los adultos jovenes (< 55 años), el deficit cognitivo mas prevalente es la afectacion de la memoria. Conclusiones. El neuropsicologo experto realiza evaluaciones neuropsicologicas exhaustivas desde un enfoque interpretativo. Los resultados de este estudio apuntan la relevancia de su funcion en los servicios de neurologia y descubre objetivos futuros.

[Factorial structure of the dysexecutive questionnaire in a sample of the Spanish population with acquired brain injury and memory deficit complaints]. / Estructura factorial del cuestionario disejecutivo en una muestra de población española con daño cerebral adquirido y quejas de déficit de memoria.

INTRODUCTION AND AIMS: The dysexecutive questionnaire (DEX) has been used to study executive deficits in both clinical samples (both psychiatric and neurological) and non-clinical samples, although agreement on its factorial structure is lacking. The aim of this research is to study that structure in the self-administered version in a sample of the Spanish population with acquired brain injury and memory loss complaints, and to compare that solution with those obtained in other studies. PATIENTS AND METHODS: The questionnaire was administered to 119 subjects with acquired brain injury with different aetiologies (traumatic, vascular, tumours, multiple sclerosis, toxic-metabolic and others). RESULTS: The Cronbach's alpha coefficient was 0.88. All the items showed adequate discriminatory power, except item 15. No relation was found between the total score on the DEX and the age, gender and time elapsed since the injury. A negative correlation between total score and level of schooling was confirmed. The total score does not follow a normal distribution. The five-factor solution accounts for a higher percentage of the total variance than those of two, three and four factors (63.76%). CONCLUSIONS: The Spanish version of the DEX is an instrument that is valid for evaluating general dysexecutive symptoms in subjects with acquired brain injury. The five-factor factorial structure (planning, cognitive control, inhibition, social awareness and impulse control) offers a greater wealth of information because it measures more aspects of the dys-executive pathology and therefore appears to be more useful in the clinical setting. It is advisable to use the questionnaire in an early stage of evaluation or screening and to use it as a complement to the proxy-reported version.