[A German version of the Cambridge examination for mental disorders of older people with Down's syndrome and others with intellectual disabilities : A diagnostic procedure for detecting dementia in people with Down's syndrome]. / Eine deutsche Fassung der Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities : Ein Diagnoseverfahren zur Erfassung von Demenz bei Menschen mit einem Down-Syndrom.

BACKGROUND: Although people with Down's syndrome (DS) are at a high risk of developing an Alzheimer type dementia (AD) due to a triplication of the amyloid precursor gene, there are practically no internationally available test procedures to detect cognitive deficits in this at risk population in the German language. OBJECTIVE: The aim was to provide a German translation and intercultural adaptation of the Cambridge examination for mental disorders of older people with Down's syndrome and others with intellectual disabilities (CAMDEX-DS), which is available in English and Spanish. This instrument for diagnostics and monitoring consists of a psychological test examination (CAMCOG-DS) and a caregiver interview. METHODS: The translation and adaptation of the CAMDEX-DS were achieved through a multistep translation process, whereby two independent forward and back translations were provided by professional translators and a consensus version was finalized and tested. The final version of the caregiver interview was applied to 11 subjects and the CAMCOG-DS was conducted with 28 patients. RESULTS: The German version of the CAMDEX-DS proved to be easily administered. The CAMCOG-DS could be fully administered to 21 out of 28 patients (75%). The CAMCOG-DS values were much lower for older patients aged ≥45 years than for younger patients (46/109 vs. 73.5/109; p = 0.033). DISCUSSION: The German version of the CAMDEX-DS provides an internationally recognized tool for the diagnostics and monitoring of cognitive decline in Down's syndrome. Furthermore, the German version can standardize medical care of these patients. In particular it provides a means of participation in international research trials for this at risk population.

Differential levels of Neurofilament Light protein in cerebrospinal fluid in patients with a wide range of neurodegenerative disorders.

Cerebrospinal fluid (CSF) biomarkers are useful in the diagnosis and the prediction of progression of several neurodegenerative diseases. Among them, CSF neurofilament light (NfL) protein has particular interest, as its levels reflect neuroaxonal degeneration, a common feature in various neurodegenerative diseases. In the present study, we analyzed NfL levels in the CSF of 535 participants of the SPIN (Sant Pau Initiative on Neurodegeneration) cohort including cognitively normal participants, patients with Alzheimer disease (AD), Down syndrome (DS), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). We evaluated the differences in CSF NfL accross groups and its association with other CSF biomarkers and with cognitive scales. All neurogenerative diseases showed increased levels of CSF NfL, with the highest levels in patients with ALS, FTD, CBS and PSP. Furthermore, we found an association of CSF NfL levels with cognitive impairment in patients within the AD and FTD spectrum and with AD pathology in DLB and DS patients. These results have implications for the use of NfL as a marker in neurodegenerative diseases.

[Cognitive impairment in normal pressure hydrocephalus (NPH). A proposal for clinical evaluation protocol]. / Alteraciones cognitivas en pacientes con hidrocefalia crónica del adulto ("normotensiva"). Propuesta de un protocolo para su evaluación clínica.

Normal pressure hydrocephalus (NPH) is characterized by gait disturbance, urinary incontinence and dementia, and is associated with variable ventricular enlargement. The most accepted treatment of NPH is the placement of a cerebrospinal fluid shunt. Owing to the characteristics of the patients and the invasive nature of the surgical treatment, it is fundamental to detect those patients who could obtain a greater benefit from the treatment. Neuropsychological assessment of these patients could significantly contribute to a better diagnosis of NPH, determining a cognitive deterioration profile for these patients, allowing the assessment of treatment efficacy and helping to detect other additional causes of dementia. The aim of this study is to describe the cognitive deterioration profile of NPH patients and to present the clinical, functional and neuropsychological assessment protocol used in our hospital.

Regresión en adultos jóvenes con síndrome de Down. Revisión de tres casos / Regression in young adults with Down’s syndrome. A three cases review

En algunos adolescentes y jóvenes con síndrome de Down (SD) se ha observado un deterioro en sus funciones cognitivas y en sus capacidades adaptativas similar al observado en personas que padecen la enfermedad de Alzheimer, aunque en edades muy tempranas. Se sabe muy poco sobre la etiología de estos cambios. En este trabajo se exponen tres casos de jóvenes con SD que presentaron un deterioro en sus funciones cognitivas y una pérdida de habilidades funcionales previamente bien adquiridas, y se examinan algunos de los factores de riesgo (médicos y psicológicos) que pueden estar asociados a dicho deterioro. En todos los casos, la pérdida de capacidades se acompañaba de síntomas de ansiedad y depresión (AU)

A deterioration in some of their cognitive functions and adaptive skills has been observed in adolescents and young adults with Down’s syndrome, which is similar to that observed in individuals who suffer from Alzheimer’s disease, although at much earlier ages. Little is known of the etiology of these changes. In this work, 3 cases are presented on 3 young adults with Down’s syndrome, who presented with a deterioration in their cognitive functions and a loss of, previously well attained, functional skills. Some medical and psychological risk factors that could be associated with this regression are examined. In all the cases, the loss of skills was associated with anxiety and depression symptoms (AU)

[A proposal of a neuropsychological and quality of life assessment protocol in patients with malignant middle cerebral artery infarction]. / Propuesta de un protocolo de valoración neuropsicológica y de calidad de vida en pacientes que han sufrido un infarto maligno de la arteria cerebral media.

Malignant middle cerebral artery infarction (MMCAI) refers to an infarction type normally accompanied by massive cerebral edema, and associated with a high mortality rate under conventional therapeutic measures. Both moderate hypothermia and decompressive hemicraniectomy have been shown to significantly improve survival rate, although controversy still persists regarding the criteria for the selection of patients that could benefit from this type of treatment, and whether application of these measures is justified given the residual sequelae. In our centre, both measures are being applied simultaneously for the first time in humans. The present work is a literature review on the results of moderate hypothermia application and decompressive surgical techniques in patients suffering from MMCAI. We also introduce our management scheme for handling these patients in our centre, and propose a final result evaluation protocol that is easily applied in a clinical setting. This protocol includes an evaluation of patients with ischemic lesions specific for the right or left hemisphere, and allows for the description of specific neuropsychological sequelae and their repercussions on patients' quality of life.

Alteraciones cognitivas en pacientes con hidrocefalia crónica del adulto (“normotensiva”). Propuesta de un protocolo para su evaluación clínica / Cognitive impairment in Normal Pressure Hydrocephalus (NPH). A proposal for clinical evaluation protocol

La hidrocefalia crónica del adulto (HCA), o hidrocefaliaa presión normal, se caracteriza por una alteración de la marcha, una incontinencia de esfínteres y un deterioro cognitivo progresivo, asociado a una dilatación variable del sistema ventricular. El tratamiento habitual consiste en la colocación de un sistema de derivación de líquido cefalorraquídeo (LCR). Dadas las características de los pacientes y el riesgo implícito de la cirugía, es fundamental realizar un diagnóstico correcto del síndrome para detectar a aquellos pacientes que pueden obtener un mayor beneficio del tratamiento. La valoración neuropsicológica de estos pacientes puede contribuir, de forma importante, al diagnóstico de la HCA, definiendo el perfil de deterioro cognitivo característico en estos enfermos. La valoración neuropsicológica permite, asimismo, determinar la eficacia del tratamiento quirúrgico y ayuda a detectar la coexistencia de otras causas de demencia. El objetivo de este estudio es definir el patrón de afectación cognitiva en pacientes con HCA y presentar el protocolo de valoración clínico, funcional y neuropsicológico que utilizamos en nuestro centro

Normal pressure hydrocephalus (NPH) is characterized by gait disturbance, urinary incontinence and dementia, and is associated with variable ventricular enlargement. The most accepted treatment of NPH is the placement of a cerebrospinal fluid shunt. Owing to the characteristics of the patients and the invasive nature of the surgical treatment, it is fundamental to detect those patients who could obtain a greater benefit from the treatment. Neuropsychological assessment of these patients could significantly contribute to a better diagnosis of NPH, determining a cognitive deterioration profile for these patients, allowing the assessment of treatment efficacy and helping to detect other additional causes of dementia. The aim of this study is to describe the cognitive deterioration profile of NPH patients and to present the clinical, functional and neuropsychological assessment protocol used in our hospital

Habilidades de cognición social en niños y niñas con el síndrome de Down: resultados de un estudio preliminar / Socio-cognitive abilities in children with Down’s syndrome: results of a preliminary study

La comprensión de la creencia falsa es uno de los hitos más importantes en el desarrollo de la cognición social infantil. Se han realizado diversos estudios sobre esta forma de cognición en niños con un desarrollo típico. Sin embargo, y a pesar de ser un aspecto clave en la mejora de la calidad de vida y su bienestar, los trabajos son escasos en niños con síndrome de Down (SD). El objetivo del presente trabajo consiste, precisamente, en profundizar en el estudio de la cognición social en niños con SD. Con esta finalidad, hemos administrado 6 tareas, divididas en 3 niveles de dificultad, a un grupo de 9 niños de 4-14 años. De estos niños, 6 presentan un diagnóstico genético de SD y 3, no. Los resultados de nuestra investigación corroboran los de estudios previos que indican dificultades en el desarrollo de la cognición social en los niños con SD, especialmente en las tareas de creencia falsa (AU)

The understanding of false belief is one of the most important milestones in the development of social cognition in children. Many studies have been conducted about this kind of cognition in typically developing children. Despite being a key point for improving their welfare and quality of life, studies in children with Down syndrome are few. The aim of the present work is to deepen in the study of social cognition in children with Down syndrome. For this purpose, we used 6 tasks, with 3 levels of difficulty, in a group of 9 children aged between 4 and 14. From these children, 6 had a genetic diagnosis of Down syndrome and 3 did not. The results of our research corroborate previous studies suggesting difficulties in the development of social cognition in children with Down syndrome, and more specifically in tasks involving false beliefs (AU)

Reconstrucción nasal total: a propósito de un caso / Total nasal reconstruction: case report

Presentamos el caso de una paciente de 90 años de edad afecta de un carcinoma escamoso nasal. Cualquier defecto a nivel nasal debe ser analizado en términos de pérdida anatómica de tejido y como subunidades estéticas, empezando en el defecto interno y progresando hacía afuera, plano por plano. El caso en cuestión muestra el uso de un colgajo septal, injertos óseos obtenidos de olécranon para el dorso, e injertos de cartílago conchal para recrear las dos alas nasales. Se precisaron dos colgajos nasolabiales y finalmente mediante un colgajo frontal se reconstruyó el defecto cutáneo en columela, dorso, alas y paredes nasales laterales. El pedículo se seccionó a las cuatro semanas. Actualmente la paciente vive y sigue controles periódicos (AU)

We present the case of a 90 year-old woman with a scamous cell carcinoma located on the nose. A nasal defect must be analyzed in terms of anatomic tissue loss and aesthetic three-dimensional subunits, starting from de inside of the nose and progressing outward, layer by layer. The case that follows demostrates the use of a septal pivot flap, an olecranum bone graft restored the dorsal subunit, and bilateral conchal cartilage grafts were fashioned into new alar cartilages. Bilateral nasolabial flaps were needed and finally the skin cover defect was resurfaced as a total nasal unit made of columela, dorsum, alar units and portions of the nasal sidewalls bilaterally with a forehead flap. Four weeks after the initial reconstruction, the forehead pedicle was divided. At this moment the woman is alive and under periodical revision (AU)

Propuesta de un protocolo de valoración neuropsicológica y de calidad de vida en pacientes que han sufrido un infarto maligno de la arteria cerebral media / A proposal of a neuropsychological and quality of life assessment protocol in patients with malignant middle cerebral artery infarction

El infarto maligno de la arteria cerebral media (IM-ACM) hace referencia a un tipo de infarto que se acompaña de un edema cerebral masivo y que se asocia a una alta mortalidad cuando se utilizan medidas terapéuticas convencionales. La hipotermia moderada y la hemicraniectomía descompresiva son opciones terapéuticas que han demostrado reducir la mortalidad de forma significativa, aunque siguen existiendo controversias en torno al criterio de selección de los pacientes que van a obtener un potencial beneficio de estas medidas. También existen dudas sobre si las secuelas residuales justifican la aplicación de estas medidas terapéuticas más agresivas. En nuestro centro se están aplicando ambas medidas terapéuticas de forma conjunta por primera vez en humanos. En este estudio realizamos una revisión de la literatura sobre los resultados de la aplicación de la hipotermia moderada y de las técnicas quirúrgicas descompresivas en los pacientes con un IM-ACM, presentamos nuestro esquema de manejo para estos pacientes y proponemos un protocolo de valoración de resultados finales en estos pacientes de fácil aplicabilidad en el contexto clínico. Este protocolo incluye una valoración específica para los pacientes con lesiones isquémicas de hemisferio derecho e izquierdo y permite describir secuelas neuropsicológicas específicas, así como su repercusión en la calidad de vida del enfermo y en su entorno familiar

Malignant middle cerebral artery infarction (MMCAI) refers to an infarction type normally accompanied by massive cerebral edema, and associated with a high mortality rate under conventional therapeutic measures. Both moderate hypothermia and decompressive hemicraniectomy have been shown to significantly improve survival rate, although controversy still persists regarding the criteria for the selection of patients that could benefit from this type of treatment, and whether application of these measures is justified given the residual sequelae. In our centre, both measures are being applied simultaneously for the first time in humans. The present work is a literature review on the results of moderate hypothermia application and decompressive surgical techniques in patients suffering from MMCAI. We also introduce our management scheme for handling these patients in our centre, and propose a final result evaluation protocol that is easily applied in a clinical setting. This protocol includes an evaluation of patients with ischemic lesions specific for the right or left hemisphere, and allows for the description of specific neuropsychological sequelae and their repercussions on patients’ quality of life