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BACKGROUND Despite presenting higher risk of dementia, mild cognitive impairment (MCI) is not well defined in Down syndrome population. OBJECTIVE We aimed to describe cognitive and neuropsychological patterns associated with MCI in Down syndrome individuals. METHOD Two groups of adults with Down syndrome (control and prodromal) were studied throughout 3 years. Two linear mixed models and a model including the variables that best predicted group membership were built. RESULTS Behavioural Regulation Index (BRI) (Behaviour Rating Inventory of Executive Function test) and the model composed of BRI, abstraction and delayed verbal memory were the variable and model best predicting group membership, respectively. CONCLUSION Suggest a diagnosis of MCI when BRI is the earliest change perceived by caregivers and this is combined with low scores in abstract thinking, and when an amnesic pattern in delayed verbal memory is observed, but adaptive skills are preserved.

In this study, we examined normative data and diagnostic accuracy of a pictorial screening test to detect memory impairment for mild cognitive impairment (MCI) and Alzheimer’s disease (AD) in Spanish-speaking adults with intellectual disability (ID). A total of 94 volunteers with ID (60 controls, 17 MCI, and 17 AD), were evaluated by neuropsychological tests including the PMIS-ID in a cross-sectional validation study. Discriminative validity between the MCI, AD, and control group was analyzed by the area under the ROC curve. A cut-off score of 4.5 on the immediate recall trial had a sensitivity of 69% and a specificity of 80% to detect memory impairment (AUC = 0.685; 95% CI = 0.506–0.863) in the AD group. The PMIS-ID is a useful screening test to rule out a diagnosis of memory decline in people with moderate level of ID and AD, and it shows good psychometric properties.

The aim of this study was to develop and validate the PLANEA Independent Life Skills Scale, an instrument created according to the Planea Program framework for training independent living skills in young people in residential care.A sample of 1,098 young people took part, 60% were women and 37% were living in residential child care, with a mean age of 17.69 years ( SD = 2.25). Psychometric analyses were carried out within the frameworks of Classical Test Theory and Item Response Theory models.The new instrument demonstrated three first-order factors (Self-Care and Wellbeing, Daily Arrangements and Organizational Skills, and Employment and Accommodation) and one second-order factor (Independent Life Skills), with excellent test score reliability, including a short version, PLANEA-9 (ω = .86 - .94). Clear evidence was found of validity in relation to other variables, such as general self-efficacy ( r = .519), and discriminative capacity.The PLANEA Independent Life Skills Scale was shown to be a reliable valid instrument for assessing this construct in young people.

Introduction: The majority of individuals with Down syndrome (DS) show signs of Alzheimer's disease (AD) neuropathology in their fourth decade. However, there is a lack of specific markers for char...

The social changes experienced in many countries have prolonged the transition to adult life for young people. That being said, those who leave child care cannot afford this privilege, in that they do not benefit from the same support and resources, having to confront an accelerated transition which exposes them to increased risk of negative outcomes and social exclusion. Moreover, this transition might be even riskier for unaccompanied migrant care leavers, who are four times as vulnerable, given their status as young people in care, as adolescents, as migrants and being unaccompanied. This paper seeks to explore the profiles, needs, and experiences of unaccompanied young migrants in comparison with other care leavers. Data were collected by means of a semi-structured interview to explore their pre-care, in-care, and aftercare experiences. A highly specific profile of unaccompanied young migrants has been revealed that differs from the other care leavers in terms of worse educational, occupational, and economic outcomes, limited support networks, and more obstacles to accessing aftercare supports. Conversely, they also exhibited some strengths, such as having less pre-care, in care, and aftercare traumatic experiences, less psychological distress and fewer risky behaviors compared with other care leavers.

Background The outbreak of coronavirus disease 2019 (COVID-19), caused by SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2), in December 2019 in Wuhan, People's Republic of China, has developed into an unprecedented pandemic with enormous pressure on health-care providers around the world. A higher mortality rate has been described in older infected individuals. Patients with hip fracture are a particularly vulnerable population during this pandemic because older age is associated with a higher mortality rate. Our aim was to describe the early mortality rate and demographic variables in a hip fracture sample population in Spain during the coronavirus pandemic. Methods This is a multicenter, observational, retrospective, descriptive study. We collected data from 13 major hospitals in Spain from the beginning of the national state of alarm (declared on March 14, 2020, by the Spanish government) until the end of our study period on April 4, 2020. All patients who were ≥65 years of age, presented to the Emergency Department of the participating hospitals during this period with a diagnosis of proximal femoral fracture, and had a minimum follow-up of 10 days were included in the cohort. In addition to mortality, demographic and other potential prognostic variables were also collected. Results In this study, 136 patients with a hip fracture were included. Of these patients, 124 underwent a surgical procedure and 12 were managed nonoperatively. The total mortality rate was 9.6%. Sixty-two patients were tested for COVID-19, with 23 patients being positive. The mortality rate for these 23 patients was 30.4% (7 of 23 patients) at a mean follow-up of 14 days. The mortality rate was 10.3% (4 of 39) for patients who had been tested and had a negative result and 2.7% (2 of 74) for patients who had not been tested. Of the 12 patients who were managed nonoperatively, 8 (67%) died, whereas, of the 124 patients who were surgically treated, 5 (4%) died. Results differed among centers. Conclusions There is a higher mortality rate in patients with a hip fracture and an associated positive test for COVID-19. Level of evidence Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.

We longitudinally assessed Down syndrome individuals at the age of risk of developing dementia to measure changes in brain anatomy and their relationship to cognitive impairment progression.Forty-two Down syndrome individuals were initially included, of whom 27 (mean age 46.8 years) were evaluable on the basis of completing the 2-year follow-up and success in obtaining good quality MRI exams. Voxel-based morphometry was used to estimate regional brain volumes at baseline and follow-up on 3D anatomical images. Longitudinal volume changes for the group and their relationship with change in general cognitive status and specific cognitive domains were mapped.As a group, significant volume reduction was identified in the substantia innominata region of the basal forebrain, hippocampus, lateral temporal cortex and left arcuate fasciculus. Volume reduction in the substantia innominata and hippocampus was more prominent in individuals whose clinical status changed from cognitively stable to mild cognitive impairment or dementia during the follow-up. Relevantly, longitudinal memory score change was specifically associated with volume change in the hippocampus, prospective memory with prefrontal lobe and verbal comprehension with language-related brain areas.Results are notably concordant with the well-established anatomical changes signaling the progression to dementia in Alzheimer's disease, despite the dense baseline pathology that developmentally accumulates in Down syndrome. This commonality supports the potential value of Down syndrome as a genetic model of Alzheimer's neurodegeneration and may serve to further support the view that Down syndrome patients are best candidates to benefit from treatment research in Alzheimer's disease.•Longitudinal changes in brain anatomy were identified in Down syndrome individuals.•Basal forebrain and hippocampal volume reductions paralleled clinical progression.•The overall anatomical pattern identified resembled Alzheimer's neurodegeneration.

Down syndrome (DS) has been considered a unique model for the investigation of Alzheimer's disease (AD) but intermediate stages in the continuum are poorly defined. Considering this, we investigated the neurophysiological (i.e., magnetoencephalography [MEG]) and neuropsychological patterns of mild cognitive impairment (MCI) and AD in middle-aged adults with DS. The sample was composed of four groups: Control-DS (n = 14, mean age 44.64 ± 3.30 years), MCI-DS (n = 14, 51.64 ± 3.95 years), AD-DS (n = 13, 53.54 ± 6.58 years), and Control-no-DS (healthy controls, n = 14, 45.21 ± 4.39 years). DS individuals were studied with neuropsychological tests and MEG, whereas the Control-no-DS group completed only the MEG session. Our results showed that the AD-DS group exhibited a significantly poorer performance as compared with the Control-DS group in all tests. Furthermore, this effect was crucially evident in AD-DS individuals when compared with the MCI-DS group in verbal and working memory abilities. In the neurophysiological domain, the Control-DS group showed a widespread increase of theta activity when compared with the Control-no-DS group. With disease progression, this increased theta was substituted by an augmented delta, accompanied with a reduction of alpha activity. Such spectral pattern—specifically observed in occipital, posterior temporal, cuneus, and precuneus regions—correlated with the performance in cognitive tests. This is the first MEG study in the field incorporating both neuropsychological and neurophysiological information, and demonstrating that this combination of markers is sensitive enough to characterize different stages along the AD continuum in DS.

Despite how important it is to assess executive functioning in persons with Intellectual Disability (ID), instruments adapted and validated for this population are scarce. This study’s primary goal was to find evidence for the validity of the ID version of the Tower of London (TOLDXtm) test in persons with mild (IDMi) and moderate (IDMo) levels of ID with Down Syndrome (DS). A multicenter study was carried out. Subjects (n= 63, ≥ 39 years old) had DS with mild (n= 39) or moderate ID (n= 24) with no minor neurocognitive disorder or Alzheimer’s disease. Assessment protocol: TOLDXtmfor ID, Kaufman Brief Intelligence Test Second Edition (K-BIT II), Cambridge Examination for Mental Disorders of Older People with Down’s Syndrome and Others with Intellectual Disabilities (CAMDEX-DS), Weigl’s Color-Form Sorting Test (WCFST), Barcelona Test for Intellectual Disability (BT-ID), and the Behavior Rating Inventory of Executive Function (BRIEF-P). The internal consistency (IDMiand IDMo), factor structure of the different subscales, and relationship between TOLDXtmsubscales and other cognitive measures (BT-ID, WCFST, and BRIEF-P) were analyzed. A normative data table with ID population quartiles is provided. TOLDXtmfor ID showed a robust one factor structure and coherentassociations with other, related neuropsychological instruments. Significant differences between IDMiand IDMoon movement-related variables likeCorrect (Corr; p = .002)andMoves (Mov; p = .042)were observed, along with good internal consistency values, Corr (α = .75), Mov (α = .52). Regarding internal consistency, no between-groups differences were observed (allp-value > 0.05). The TOLDXtmfor ID is thus an instrument, supported by good validity evidence, to evaluate problem-solving and planning in ID. It distinguishes between individuals with mild and moderate ID, and is highly associated with other measures of executive functioning.

Background Neural tissue alterations in Down syndrome are fully expressed at relatively late developmental stages. In addition, there is an early presence of neurodegenerative changes in the late life stages. Objective The aims of this study were both to characterize white matter abnormalities in the brain of adult Down syndrome patients using diffusion tensor imaging (DTI) and to investigate whether degenerative alterations in white matter structure are detectable before dementia is clinically evident. Methods Forty-five adult non-demented Down syndrome patients showing a wide age range (18-52 years) and a matched 45-subject control group were assessed. DTI fractional anisotropy (FA) brain maps were generated and selected cognitive tests were administered. Results Compared with healthy controls, non-demented Down syndrome patients showed lower DTI FA in white matter involving the major pathways, but with more severe alterations in the frontal-subcortical circuits. White matter FA decreased with age at a similar rate in both DS and control groups. Conclusions Our results contribute to characterizing the expression of white matter structural alterations in adult Down syndrome. However, an accelerated aging effect was not demonstrated, which may suggest that the FA measurements used are not sufficiently sensitive or, alternatively, age-related white matter neurodegeneration is not obvious prior to overt clinical dementia.

In this study, we show that the role of nonmuscle myosin II (NMII)-B in front-back migratory cell polarity is controlled by a short stretch of amino acids containing five serines (1935-1941). This motif resides near the junction between the C terminus helical and nonhelical tail domains. Removal of this motif inhibited NMII-B assembly, whereas its insertion into NMII-A endowed an NMII-B-like ability to generate large actomyosin bundles that determine the rear of the cell. Phosphomimetic mutation of the five serines also inhibited NMII-B assembly, rendering it unable to support front-back polarization. Mass spectrometric analysis showed that several of these serines are phosphorylated in live cells. Single-site mutagenesis showed that serine 1935 is a major regulatory site of NMII-B function. These data reveal a novel regulatory mechanism of NMII in polarized migrating cells by identifying a key molecular determinant that confers NMII isoform functional specificity., This work is supported by grants SAF2011-24953 from MINECO, FP7 Marie Curie CIG-293719 from the EU, CIVP16A1831 from the Ramon Areces Foundation (M. Vicente-Manzanares), GM 23244 (A.R. Horwitz), GM037537 (D.F. Hunt), and the Cell Migration Consortium U54 GM64346 (A.R. Horwitz and D.F. Hunt). M. Vicente-Manzanares is an investigator from the Ramón y Cajal Program (RYC-2010-06094).

Frequently, depression is a concomitant pathology in anorexia nervosa. To verify this, we carried out a comparative case/control study with 50 anorexic patients, restricting-type (ANP), 50 depressed patients (DP) and 50 non-patients (NP), aged between 13 and 16. We used the Rorschach Test and the Minnesota Multiphasic Personality Inventory (MMPI) and compared the results to parent's observations collected from the Achenbach Child Behavior Checklist (CBCL). Results showed two clearly different groups among participants: ANP with depression (36%) and ANP without depression (64%). This seems to indicate that depression is not a core element in anorexic disorders. However, we also observed a significant increase in the MMPI scale 2, which was probably related to starvation and weight loss. We confirmed the absence of general anxiety in the ANP group and obtained differences between depressive symptoms and those derived from coping deficit disorders. The discussion emphasizes the importance of using several tests to reduce bias in results and conclusions.

Dementia caused by Alzheimer's disease commonly affects the adult population with Down's syndrome. This population presents two characteristic clinical features: a semiologic pattern that differs from the typical Alzheimer's disease, and previous intellectual deficits that may confound the clinical diagnosis. There is a clear need to validate specific instruments adapted to Spanish population.To adapt and to validate CAMDEX-DS (Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities) in Spanish population.146 patients with intellectual disability (mild to moderate) were recruited and assessed with CAMDEX-DS, K-BIT I and DMR tests. Test-retest reliability, inter-rater concordance and validity statistic were performed between CAMDEX-DS and clinical diagnosis. This is an observational, multicenter, cross-sectional and validation study.Test-retest and inter-rater reliability achieved kappa coefficient values of 0.92 and 0.91, respectively. Agreement (kappa index) for CAMDEX-DS on clinical diagnosis compared to other clinical criteria was high: CAMDEX-DS vs DSM-IV (kappa = 0.95; p0,001); CAMDEX-DS vs ICD-10 (kappa = 0.97; p0.001). All item-test correlations ranged between 0,31 and 0,69. Internal reliability-calculated using Chronbach's alpha scored 0.93.The Spanish version of CAMDEX-DS is a valid instrument with high applicability for people with intellectual disability. It shows good psychometric properties. The Cambridge Cognitive Examination for Older Adults with Down's Syndrome (CAMCOG-DS) can set two key points by the level of intellectual disability on the suspicion of cognitive impairment in people with Down's syndrome.Adaptacion y validacion del Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities (CAMDEX-DS) en poblacion española con discapacidad intelectual.Introduccion. La demencia causada por la enfermedad de Alzheimer afecta comunmente a la poblacion adulta con sindrome de Down. Esta poblacion presenta dos rasgos clinicos caracteristicos: la presencia de demencia con semiologia distinta a la enfermedad de Alzheimer tipica y deficits intelectuales previos que pueden confundir el diagnostico clinico. Existe una evidente necesidad de validar instrumentos especificos en castellano adaptados a esta poblacion. Objetivo. Adaptar y validar el Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities (CAMDEX-DS) en poblacion española. Pacientes y metodos. Se consideraron 146 pacientes con discapacidad intelectual (leve-moderada). Se realizo un estudio de validacion de tipo observacional, transversal y multicentrico. Se administraron los siguientes tests: CAMDEX-DS, test breve de inteligencia de Kaufman y Dementia Questionnaire for Persons with Mental Retardation. Se calculo la fiabilidad test-retest, la fiabilidad interjueces, la concordancia del CAMDEX-DS para el diagnostico clinico y la validez. Resultados. La fiabilidad test-retest e interjueces obtuvo un coeficiente kappa de 0,92 y 0,91, respectivamente. El indice kappa del CAMDEX-DS para el diagnostico clinico respecto al resto de los criterios clinicos utilizados fue alto: CAMDEX-DS frente a DSM-IV (kappa = 0,95; p0,001); CAMDEX-DS frente a Clasificacion Internacional de Enfermedades, decima revision (kappa = 0,97; p = 0,000). Todas las correlaciones item-test oscilaban entre 0,31 y 0,69. La fiabilidad interna calculada mediante el alfa de Cronbach fue de 0,93. Conclusiones. La version española del CAMDEX-DS es un instrumento valido, de alta aplicabilidad a personas con discapacidad intelectual, que muestra buenas propiedades psicometricas. El Cambridge Cognitive Examination for Older Adults with Down's Syndrome (CAMCOG-DS) permite establecer dos puntos de corte para la sospecha de deterioro cognitivo en el grupo de personas con sindrome de Down en funcion del nivel de discapacidad intelectual previo.

To describe Latino beliefs about AIDS (SIDA), Latino adults were sampled at two U.S. sites (Connecticut and Texas) and two international sites (Mexico and Guatemala). A 125-item questionnaire covered risk factors, symptoms, treatments, and sequellae of AIDS. The cultural consensus model was used to determine the cultural beliefs for each sample. Responses from 161 people indicated that a single set of beliefs was present at each site and that beliefs were shared across sites. Comparison of answers between samples indicated high agreement (p.0007). The proportion of shared beliefs, however, decreased significantly between samples: .68 in Connecticut, .60 in Texas, .51 in Mexico, and .41 in Guatemala (p.05). The proportion of positive answers similarly decreased from Connecticut to Guatemala (p.001). Beliefs were stronger and more detailed in the higher prevalence areas. Furthermore, Latino beliefs tended to converge on biomedical beliefs about the disease.

Aims To study the impact of genotype on the performance of the 2019 risk model for arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods and results The study cohort comprised 554 patients with a definite diagnosis of ARVC and no history of sustained ventricular arrhythmia (VA). During a median follow-up of 6.0 (3.1,12.5) years, 100 patients (18%) experienced the primary VA outcome (sustained ventricular tachycardia, appropriate implantable cardioverter defibrillator intervention, aborted sudden cardiac arrest, or sudden cardiac death) corresponding to an annual event rate of 2.6% [95% confidence interval (CI) 1.9–3.3]. Risk estimates for VA using the 2019 ARVC risk model showed reasonable discriminative ability but with overestimation of risk. The ARVC risk model was compared in four gene groups: PKP2 (n = 118, 21%); desmoplakin (DSP) (n = 79, 14%); other desmosomal (n = 59, 11%); and gene elusive (n = 160, 29%). Discrimination and calibration were highest for PKP2 and lowest for the gene-elusive group. Univariable analyses revealed the variable performance of individual clinical risk markers in the different gene groups, e.g. right ventricular dimensions and systolic function are significant risk markers in PKP2 but not in DSP patients and the opposite is true for left ventricular systolic function. Conclusion The 2019 ARVC risk model performs reasonably well in gene-positive ARVC (particularly for PKP2) but is more limited in gene-elusive patients. Genotype should be included in future risk models for ARVC.