Validation of the Extreme Experiences Scale (EX2) for Armed Conflict Contexts.

Psychological approaches to the study of armed conflict have focused on analyzing post-traumatic stress outcomes, and on evaluating the intensity of exposure to violent confrontation. Nevertheless, psychometrically valid tools required for measuring these traumatic experiences are scarce To validate the Extreme Experiences scale (EX2) for armed conflict contexts for its use in Colombia, and to provide a framework for validation in conflict contexts around the world This Cross-sectional aims to validate the scale with 187 participants, study of validate with 187 participants, comprising population with high exposure to conflict (former combatants and a set of armed conflict victims) and low conflict-exposed individuals (control group). Structures of two domains and 18 items were confirmed: Direct Extreme Experiences (dEX2) and Indirect Extreme Experiences (iEX2); these dimensions were also validated by expert judgment, producing 14-item version. Good levels of internal consistency were found, with a KR-20 of 0.80 for the 18-item version, and 0.77 for the 14-item. The scale differentiates between population with 'high exposure to conflict' from population with 'low exposure' (dnp > 0.5 and area under the ROC >0.90). The scale scores have significant correlation with some mental health constructs. The EX2 scale has good internal consistency, as well as structural validity with regard to exposed groups. This scale can be potentially validated for its use in countries with armed confrontation history. In future versions, the scale may include additional items in order to improve content validity.

Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease.

The literature on GWAS (genome-wide association studies) data suggests that very large sample sizes (for example, 50,000 cases and 50,000 controls) may be required to detect significant associations of genomic regions for complex disorders such as Alzheimer's disease (AD). Because of the challenges of obtaining such large cohorts, we describe here a novel sequential strategy that combines pooling of DNA and bootstrapping (pbGWAS) in order to significantly increase the statistical power and exponentially reduce expenses. We applied this method to a very homogeneous sample of patients belonging to a unique and clinically well-characterized multigenerational pedigree with one of the most severe forms of early onset AD, carrying the PSEN1 p.Glu280Ala mutation (often referred to as E280A mutation), which originated as a consequence of a founder effect. In this cohort, we identified novel loci genome-wide significantly associated as modifiers of the age of onset of AD (CD44, rs187116, P=1.29 × 10⁻¹²; NPHP1, rs10173717, P=1.74 × 10⁻¹²; CADPS2, rs3757536, P=1.54 × 10⁻¹°; GREM2, rs12129547, P=1.69 × 10⁻¹³, among others) as well as other loci known to be associated with AD. Regions identified by pbGWAS were confirmed by subsequent individual genotyping. The pbGWAS methodology and the genes it targeted could provide important insights in determining the genetic causes of AD and other complex conditions.

[Frailty syndrome and associated factors in indigenous older adults of Nariño, Colombia]. / Síndrome de fragilidad y factores asociados en adulto mayor indígena de Nariño, Colombia.

INTRODUCTION: The identification of pre-frailty and frailty syndrome in older adults is important due to its association with the development of disability. It is a priority problem for health systems and quality of life of older adults, caregivers, and relatives. OBJECTIVE: To determine the prevalence and associated factors of pre-frailty and frailty syndrome in indigenous older adults from Colombia. MATERIAL AND METHOD: A cross-sectional study was conducted that included 540 indigenous over 60 years of age who belong to the 13 sub-regions of the Obando province in Nariño, Colombia. The prevalence of frailty and pre-frailty syndrome was determined, we evaluated sociodemographic variables, cognitive deterioration, functionality, and the presence of different morbidities. Associations were estimated using multivariate multinomial logistic regression models. RESULTS: The mean age was 70.68 (SD 6.86). The prevalence of frailty syndrome was 32.4%, and pre-frailty syndrome was 58.7%. Having depressive symptoms, those with altered functional dependence according to the Barthel index, and those who reported having arthrosis or arthritis, showed an association with frailty syndrome. CONCLUSION: This analysis shows a high prevalence of frailty syndrome in the population of indigenous older adults. This was similar to that reported in other countries. Frailty has a great impact on health due to its strong association with musculoskeletal diseases, depression, and disability.

[Monitoring cognitive characteristics in a population with hereditary cerebrovascular disease (CADASIL) in Colombia]. / Seguimiento de las características cognitivas en una población con enfermedad cerebrovascular hereditaria (CADASIL) en Colombia.

INTRODUCTION: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease that affects small vessels and presents with vascular episodes, neuropsychiatric disorders, migraine and cognitive impairment. The cognitive disorder varies according to the time elapsed since onset. It is a condition with a subcortical origin related to executive dysfunction, slowing, attention-related disorders and memory disorders. AIM: To define the cognitive characteristics in two neuropsychological evaluations of carriers of Notch3 gene mutations as compared to non-carriers belonging to Colombian families with CADASIL. SUBJECTS AND METHODS: The study followed a longitudinal, retrospective design with 140 participants, including both carriers and non-carriers of the mutation. Cognitive performance was analysed by comparing the first and the last neuropsychological evaluation carried out on each subject at a four-year interval. RESULTS: There were statistically significant differences (p < 0.05) between the two groups in the last evaluation, but only in some tests. Carriers and non-carriers did not display any significant changes between the first and the last evaluation. CONCLUSIONS: No differences were found between both groups in the two evaluations. Cognitive impairment is not observed with the passage of time in carriers, probably owing to the fact that most of them were young, asymptomatic subjects. We believe that four years' follow-up is not enough time to observe a significant progression in the alterations affecting the cognitive functions in carriers of mutations in the Notch3 gene, which causes CADASIL. We also consider that more sensitive cognitive tools are needed to perform the neuropsychological evaluation.

[Validity and reliability of the CERAD-Col neuropsychological battery]. / Validez y fiabilidad de la batería neuropsicológica CERAD-Col.

INTRODUCTION: Alzheimer's disease (AD) is an important public health problem due to its disabling character and high individual, familial and social costs. The CERAD neuropsychological battery has been widely used for evaluation and diagnosis of the cognitive deficit associated with AD. This instrument has been adapted to the Colombian culture (CERAD-Col) for the Neurosciences Group. SUBJECTS AND METHODS: A study was carried out to establish the validity and reliability of the CERAD-Col in Colombian, Spanish-speaking individuals aged 50 years or more. It included 151 controls and 151 AD patients. Controls were selected from a convenience sample of 848 adults aged 50 years or more. The construct validity was determined in three ways: 1) factorial analysis; 2) correlation with the functional scales FAST and GDS (convergent-type validity) and, 3) comparison between the two groups. Internal consistency was determined by means of Cronbach's alpha coefficient. RESULTS: Three factors -memory, language and praxis- explained 88% of the total variance. Moderate but statistically significant correlations were found between neuropsychological tests and functional scales. Internal consistency and test-retest reproducibility were high. The AD group exhibited significantly lower scores (p < 0.05) than the control one. CONCLUSION: CERAD-Col is valid and reliable for the diagnosis of AD in Colombian Spanish-speaking population aged 50 years or more.

[A description of semantic memory performance in a sample of the Antioquian population]. / Descripción del desempeño en memoria semántica en una muestra de la población antioqueña.

INTRODUCTION: Available treatments for Alzheimer disease allow that early diagnosis become an important issue, because treatment only are useful during the earliest stage, especially during the mild cognitive impairment (MCI), when the most of the cognitive function is preserved. AIM: To observe the performance on a shortened version of a Semantic Cue Recall Memory Test (SCRMT) from a group of adult aged over 50 years old, living in Medellin city and with dementia of Alzheimer type (DAT). SUBJECTS AND METHODS: The sample was constituted by 30 patients with DAT, 30 with MCI, and 59 healthy controls, which were matched by socio economic strata and school achievement. The SCRMT was administered to the sample. For the analyses two groups of age (50-69 and over 70 years) were conformed. RESULTS: Comparisons statistically significant differences between the groups (p < 0.05). The scores were not significant affected by age. A combination of low scores with the presence of intrusions on the free, immediate cue, and delay cue recalls suggested the diagnosis of DAT, which allow recommending a complete neuropsychological assessment. Statistically significant differences were preserved when the groups were divided by age. The effect of the gender could not determine because the small size of the male sample. CONCLUSION: The shortened version of the SCMRT would appear be useful for the DAT diagnosis.

[Phonological awareness in child with attention deficit disorder without learning disabilities]. / Conciencia fonoloóica en niños con trastorno de la atención sin dificultades en el aprendizaje.

INTRODUCTION: Phonological awareness problems have been reported in children with attention deficit/hyperactivity disorder (ADHD). However, other researches found that phonological awareness problem appear only in children with learning disabilities (LD). OBJECTIVE: To analyze the performance on phonological awareness tasks of children aged 7 to11 years with ADHD combined type (ADHD/+H), and inattentive type (ADHD/-H) compared with one control group. PATIENTS AND METHODS: A non-randomized sample consisting of 96 children of both genders was selected. Children were attending to school in Medellin, Colombia. The sample was classified into three groups of 32 participants: ADHD/+H, ADHD/-H and control. LD was excluded using a standardized questionnaire for teachers (CEPA). Groups were sorted using a T score (3) 60 for cases and T score pound 50 for controls on a standardized questionnaire with DSM-IV-ADHD criteria, and on an ADHD-DSM-IV checklist. The performances of the three groups on phonological awareness tasks, as auditory discrimination, visual recognition, sequential repetition, oral segmentation, syllable inversion, similar words reading and writing, and pseudo-words reading and writing, were compared. RESULTS: Differences between ADHD and control children on phonological awareness tasks scores were not found. CONCLUSION: Children with ADHD without LD performed similarly to controls on phonological awareness tasks.

[Attention and executive function tests components in attention deficit/hyperactivity children]. / Componentes de las pruebas de atención y función ejecutiva en niños con trastorno por déficit de atención/hiperactividad.

INTRODUCTION: It has been suggested that children with attention deficit/hyperactivity disorder (ADHD) have problems in attention and executive functions. A factor analysis showed that ADHD children had a different factor structure of the executive functions when they were compared with controls. AIM. To determine the factor structure of attention and executive functions in a group of ADHD children compared with a group of controls. SUBJECTS AND METHODS: 249 ADHD children and 372 controls of both genders, aged 6 to 11 years old, and from the different socio economic strata of Medellín city, were selected. Attention --Mental Control and Auditory Continuous Performance Test (ACPT)-- and executive functions --Phonologic and Semantic Verbal Fluency (FAS)--, and a shortened version of the Wisconsin Card Sorting Test (WCST) were assessed in both groups. Factor analyses were developed with principal components procedure were developed for each group and the total sample, using principal component procedure with orthogonal rotation. RESULTS: Stable factor structures were found for each group and for the total sample. The general factor structure was constituted by three independent factors: 1- Categorization, 2- Verbal fluency and verbal sustained attention, and 3- Cognitive flexibility. This factor structure explained 74.9% of the variance. CONCLUSION: The factor structures suggested that the components of attention and executive functions are similar for ADHD and control groups. The differences between groups would be quantitative.

[Comparison of neuropsychological performance according to the age of onset in subjects with Parkinson's disease and Parkinsonism]. / Comparación del desempeño neuropsicológico según la edad de inicio en sujetos con enfermedad de Parkinson y parkinsonismo.

INTRODUCTION: Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease, and it is characterised by tremor, bradykinesia, rigidity and postural instability. The most frequent cognitive disorder is executive dysfunction, although global deficits associated to late onset of the disease have also been reported. AIMS: To describe and to compare cognitive performance in three groups with PD and one with Parkinsonism. PATIENTS AND METHODS: A neurological and neuropsychological evaluation was carried out on 175 patients with idiopathic PD and Parkinsonism. The data analysis was performed by comparing the results of the tests carried out on the four groups: three with PD (age of onset: juvenile, adult and late) and one with Parkinsonism, while controlling for age, schooling and time of progression. RESULTS: In the juvenile PD group, alterations were observed in the number of intrusions in verbal memory; in the adult PD and late PD groups, there were alterations in time in continuous visual execution. These differences disappeared when the groups were compared to each other while also controlling for age. The Parkinsonism group obtained results that were lower than those of all the groups with PD for most of the cognitive and functional variables. CONCLUSIONS: Idiopathic PD would not be the cause of multiple cognitive impairment, but of a specific alteration, mainly involving the speed of processing and information recall. Age of onset would not be a decisive factor in the degree of impairment of cognitive functioning; important cognitive impairment was only present in the group with Parkinsonism.

[Periodontal disease as an early clinical sign of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]. / Enfermedad periodontal como signo clínico precoz de la arteriopatía cerebral autosómica dominante con infartos subcorticales y leucoencefalopatía (CADASIL).

INTRODUCTION: The clinical signs of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are expressed mainly in the nervous system and recently reports also situate them in the retina. AIM: To determine the prevalence and risk of periodontal disease in subjects from families with a history of CADASIL mutation in the department of Antioquia, Colombia. SUBJECTS AND METHODS: A cross-sectional study was conducted, with subjects being assigned to the CADASIL group or a control group according to genotyping for the R1031C and C455R mutation in Notch3. Each participant voluntarily signed the informed consent document and was submitted to neurological, neuropsychological and periodontal evaluation. RESULTS: No significant differences were found between the two groups according to age, sex, schooling, tobacco smoking, cognitive status, functional status and the presence of natural teeth. The frequency of soft plaque, gingivitis and periodontal disease was significantly higher in the group of carriers of the CADASIL mutation than in the control group. The CADASIL group had six times more risk of having soft plaque above or equal to 20% than the control group. Prevalence of gingivitis above or equal to 10% was observed in all the members of the CADASIL group. The people in the CADASIL group had five times more risk of suffering periodontal disease than the control group. CONCLUSIONS: Carriers of the CADASIL mutation displayed a higher prevalence and risk of periodontal disease.

[Attention deficit hyperactivity behavioral phenotype dimensions of adults from Antioquian families using the Wender-Utah Scale -Spanish version]. / Dimensiones del fenotipo conductual del trastorno por déficit de atención/hiperactividad en adultos de familias antioqueñas utilizando la escala Wender-Utah en Español.

INTRODUCTION: The Wender-Utah Rating Scale (WURS) has been used for retrospective screening of attention deficit hyperactivity disorders (ADHD) symptoms and its comorbidities. AIM: To establish the ADHD behavioral phenotype dimensions of adults from 140 Antioquian families with genetic segregation for ADHD diagnosis, using the WURS -Spanish version. SUBJECTS AND METHODS: 392 adults from both genders, belonging to nuclear and multigenerational families with one or more ADHD affected members were selected. The Composite International Diagnostic Interview (CIDI) for mental disorder was administered to establish the gold standard diagnosis of ADHD through the long life. All participants fulfill the WURS. Exploratory and confirmatory factor analyses were done to determine the behavioral dimensions of the ADHD phenotype. RESULTS: A factor structure of four dimensions was derived, measuring behavioral decontrol, hyperactivity, inattention and anxiety, and which explained the 60% of the total variance. CONCLUSIONS: The behavioral adult ADHD phenotype in the Antioquian families was conformed by four dimensions, which could be used in heritability and linkage future studies.

[Analysis of intrusive errors in a memory test as possible pre-clinical marker of familial Alzheimer disease, in E280A presenilin-1 mutation carrier]. / Analisis de las intrusiones en una prueba de memoria como posible marcador preclinico de enfermedad de Alzheimer en portadores de la mutacion E280A de la presenilina-1.

INTRODUCTION: Intrusive errors in verbal memory tests could be considered as a preclinical marker of familial Alzheimer disease (AD). AIMS. To analyze and to compare the number and types of intrusive errors in the CERAD verbal memory test, administered to a genealogy of affected by familial AD, with E280A presenilin-1 mutation. PATIENTS AND METHODS: Sample was constituted by 30 asymptomatic non-carriers (ANC), 39 non-demented carriers (NDC) and 21 demented carriers (DC). CERAD verbal memory test was administered to the sample. Comparisons, with non parametric Kruskal-Wallis' analysis, were done. RESULTS: NDC participants presented more intrusive errors than ANC group in the first and second trials and in the delay recall of the memory task; also they had more intrusive errors than the DC patients in intrusive errors of the first trial and delay recall of the same task. The ANC and DC groups had significantly more intrusions only in third trial. CONCLUSION: Intrusive errors could be considered as a cognitive preclinical marker for familial AD.

[Prevalence of mild cognitive impairment, amnestic-type, in a Colombian population]. / Prevalencia de deterioro cognitivo leve de tipo amnésico en una población colombiana.

INTRODUCTION: Mild cognitive impairment (MCI) is a clinical syndrome that presents with memory disorders, normal general cognition, and no compromise of activities of daily living or dementia. Its diagnosis has important clinical implications, since it behaves as a possible predictor of cognitive disorders that would suggest the onset of dementia. Amnestic-type MCI is considered to be a stage prior to Alzheimer-type dementia. The prevalence of MCI varies from 1-29% and the existence of this diagnosis implies a risk of presenting dementia at 12% per year. AIM: To establish the prevalence of amnestic-type MCI in a group of persons over the age of 50 years from the Valle de Aburra. PATIENTS AND METHODS: The sample was made up of 848 participants of both genders, over 50 years old, who lived in the metropolitan area of Medellin and had different socioeconomic and educational levels. Amnestic MCI was diagnosed according to the criteria proposed by the American Academy of Neurology. RESULTS: Prevalence of amnestic MCI was 9.7%, and was more predominant in males (p = 0.01) than in females. The prevalence was significantly lower in the group with more than 12 years of schooling (p < 0.05), and no significant differences in the prevalence were found in relation to age or economic status. CONCLUSION: The prevalence of amnestic MCI, 9.7%, found in our study is within the range reported by other researchers.