Cambios en los cuidadores informales en cuanto a estilos de vida, relaciones y alteraciones de salud mental

Changes in the informal caregiver life styles, relations and alterations of mental health. Justification.The increase of the population aged 65 years and older in developed countries is generating a proportional increasing of the dependency caused by chronic pathologies. The care of these persons is being carried out by relatives, informal carers, leading to some alterations in diverse areas, among them mental alterations, as a consequence of taking care. Objectives. To develop a profile of the informal carers and to correlate the caregiver burden with the carers disorders. To detect risk factors to allow carrying out premature nursing interventions to diminish the disorders in the informal carers. Design. An observational and cross-sectional study is made in primary care health services area of the city of Girona. Methodology. Random sample of carer of dependent people at their home , assigned to the program of domiciliary attention (ATDOM) of the educational basic areas of health (ABS). A sample size of 269 persons, with a level of precision of 9% was needed. Questionnaire ICUB 97, the test of Barthel, the Philadelphia Geriatric Center scale, and a questionnaire are used as instruments that includes demographic and social variables, and mental and physical carers disorders.Results. A total of 80 participants were interviewed. The most common problems as consequence of taking care were the backache, to feel more tired, to feel impotent and to have less free time. Correlation between the level of dependence of the patient with the number of problems perceived by the caretaker does not exist. Since they are informal carers they eat frequently outside the habitual schedule, took place an increase or loss of weight, experienced more disorders in sexual life and an increasing lack of interest in surroundings. A 33% of the informal carers are being treated for problems related to the mental health.Conclusion. The fact of being informal carer carries important consequences in their health, the lifestyles and the social relations. These can be attenuated if the nursing interventions are able to consider to the well-taken care of subject, and its surroundings in an holistic way. The professionals of infirmary of mental health must contribute to their knowledge and abilities contributing to make an assessment, a diagnosis and an intervention paying special attention to psycho-social aspects mentioned

A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion

Deletions in the 2p16.3 region that includes the neurexin (NRXN1) gene are associated with intellectual disability and various psychiatric disorders, in particular, autism and schizophrenia. We present three unrelated patients, two adults and one child, in whom we identified an intragenic 2p16.3 deletion within the NRXN1 gene using an oligonucleotide comparative genomic hybridization array. The three patients presented dual diagnosis that consisted of mild intellectual disability and autism and bipolar disorder. Also, they all shared a dysmorphic phenotype characterized by a long face, deep set eyes, and prominent premaxilla. Genetic analysis of family members showed two inherited deletions. A comprehensive neuropsychological examination of the 2p16.3 deletion carriers revealed the same phenotype, characterized by anxiety disorder, borderline intelligence, and dysexecutive syndrome. The cognitive pattern of dysexecutive syndrome with poor working memory and reduced attention switching, mental flexibility, and verbal fluency was the same than those of the adult probands. We suggest that in addition to intellectual disability and psychiatric disease, NRXN1 deletion is a risk factor for a characteristic cognitive and dysmorphic profile. The new cognitive phenotype found in the 2p16.3 deletion carriers suggests that 2p16.3 deletions might have a wide variable expressivity instead of incomplete penetrance