Enrique Arriola

Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population.

Alzheimers disease (AD) is the most common dementing disorder and presents with a progressive and irreversible cognitive decline of gradual onset. To date, several reports have involved iron in AD physiopathology. In this study, we have analysed TFC2 variant and HFE mutations (H63D and C282Y) in 211 AD patients and 167 controls recruited from an area of the Basque Country. Furthermore, we have studied APOE genotype as it is a well-known risk factor for AD. APOE epsilon 4 allele was associated with an increased risk of AD and an earlier age at onset, whereas no association was found between TFC2 or HFE C282Y mutation and disease susceptibility. The frequency of H63D mutation was higher in control population (29.9%) than in AD patients (18%), suggesting a protective role of this allele on AD either due to the presence of the mutation itself or through the effect of other related genes in the ancestral haplotype in which it is included.

Adaptación y validación de la versión española de la escala de evaluación de dolor en personas con demencia avanzada: PAINAD-Sp

INTRODUCTION Pain in elderly people is considered a major concern in nursing home facilities affecting between 49% and 83% of the residents. Progression of Alzheimers Disease causes more communication difficulties in patients with advanced dementia and therefore more problems to understand even the most simple pain evaluation scales. Identification and implementation of appropriate pain management strategies depends on an adequate pain assessment. MATERIAL AND METHODS The main objective of the study was to validate the Spanish version of the PAINAD Scale (PAINAD-Sp) and to assess its applicability in Spanish Geriatric Nursing Homes. The 20 patients diagnosed with severe dementia from a Geriatric Centre in Spain were observed by five observers with different professional profiles for 5 minutes to each participant, and PAINAD-Sp Scale was administered simultaneously to a Visual Analogical Scale-VAS. Three different observational conditions were established: resting condition, during presumably pleasant activity and during presumable painful activity. RESULTS Cronbachs alpha ranged between 0.467 and 0.827 (average 0.692), and rose if Breathing item was deleted. Inter-rater reliability ranged between 0.587 and 0.956. Correlation between PAINAD-Sp Scale total measures and VAS was statistically significant (P<.05) in all measures and ranged from 0.517 to 0.868. CONCLUSIONS Findings in the study showed that the scale is useful to measure pain in non communicative patients suffering from dementia. The scale maintains good levels of reliability for different healthcare professionals even when they have little training.

Evaluación cognitiva global en personas vascoparlantes con demencia en estadios avanzados. Validación al euskera de la escala Severe Mini Mental State Examination (SMMSE-eus)

INTRODUCTION Adaptation and validation to the Basque language of tests to assess advanced cognitive impairment is a not covered need for Basque-speaking people. The present work shows the validation of the Basque version of the Severe Mini Mental State Examination (SMMSE). MATERIAL AND METHODS A total of 109 people with advanced dementia (MEC<15) took part in the validation study, and were classified as GDS 5-7 on the Geriatric Depression Scale (GDS). All participants were Spanish-Basque bilingual. RESULTS It was shown that SMMSE-eus has a high internal consistency (alpha=0.92), a good test-retest reliability (r=0.88; P<.01), and a high inter-rater reliability (CCI=0.99; P<.00) for the overall score, as well as for each item. CONCLUSIONS Both the high internal consistency and inter-rater reliability, and to a lesser extent, test-retest reliability, made the SMMSE-eus a valid test for the brief assessment of cognitive status in people with advanced dementia in Basque-speaking people. For this reason, the SMMSE-eus is a usable and reliable alternative for assessing Basque-speaking people in their mother-tongue, or preferred language.