Calidad de vida en personas con hemofilia: una revisión de la literatura

Introducción: La hemofilia es una enfermedad poco frecuente; no obstante, los avances en los tratamientos de pacientes hemofílicos en las últimas décadas han generado cambios en su calidad de vida. Esto ha motivado el desarrollo de múltiples investigaciones al respecto. Objetivo: Revisar la literatura sobre la calidad de vida en el paciente hemofílico, producida en el periodo 2008-2012. Método: Se consultaron algunas bases de datos científicas utilizando como palabras clave “hemofilia” y “calidad de vida”. Se recopiló la información encontrada y se organizó según los objetivos propuestos en “factores negativos” y “factores protectores” de la calidad de vida a nivel fisiológico, psicosocial y cultural; “instrumentos para la evaluación de la calidad de vida” a nivel específico y general; y antecedentes empíricos de los últimos cinco años en los que se evaluara la calidad de vida o se realizara alguna intervención en la misma. Resultados: En general la información disponible sobre el comportamiento epidemiológico de la hemofilia es limitada. El interés por factores protectores y negativos es principalmente de tipo fisiológico, aunque se encontraron factores de tipo psicosocial y cultural, lo que indica la importancia de profundizar en esta temática. Existen pocos instrumentos especializados para la evaluación de la calidad de vida en hemofílicos. La evidencia empírica se centra en la evaluación. Conclusión: El estudio de la calidad de vida en pacientes hemofílicos amerita ser abordado de manera interdisciplinaria.

La muerte en la psicoterapia fenomenológico-existencial

El siguiente trabajo pretende, mediante la revisión de diferentes fuentes bibliográficas, mostrar las distintas categorías en las que la muerte se trabaja dentro de la psicoterapia fenomenológico existencial. Es así como se hace un recorrido por los antecedentes filosóficos de este enfoque psicoterapéutico, las diferentes escuelas que dentro de él se desarrollan y sus planteamientos frente a la muerte, las maneras de morir, la muerte y el ciclo vital, y los avances actuales como la Teoría del Manejo del Terror (TMT) . Todos estos elementos se revisan para después ser relacionados y así proponer una serie de acciones prácticas a llevar a cabo dentro del encuentro psicoterapéutico con miras a un trabajo adecuado y productivo con la muerte desde una perspectiva existencial.

Análisis del gen adra2a receptor alfa 2a adrenergico en pacientes con trastorno de hiperactividad y déficit de atención

El trastorno de hiperactividad y déficit de atención (THDA), es definido clínicamente como una alteración en el comportamiento, caracterizada por inatención, hiperactividad e impulsividad. Estos aspectos son clasificados en tres subtipos, que son: Inatento, hiperactivo impulsivo y mixto. Clínicamente se describe un espectro amplio que incluye desordenes académicos, trastornos de aprendizaje, déficit cognitivo, trastornos de conducta, personalidad antisocial, pobres relaciones interpersonales y aumento de la ansiedad, que pueden continuar hasta la adultez. A nivel global se ha estimado una prevalencia entre el 1% y el 22%, con amplias variaciones, dadas por la edad, procedencia y características sociales. En Colombia, se han realizado estudios en Bogotá y Antioquia, que han permitido establecer una prevalencia del 5% y 15%, respectivamente. La causa específica no ha sido totalmente esclarecida, sin embargo se ha calculado una heredabilidad cercana al 80% en algunas poblaciones, demostrando el papel fundamental de la genética en la etiología de la enfermedad. Los factores genéticos involucrados se relacionan con cambios neuroquímicos de los sistemas dopaminérgicos, serotoninérgicos y noradrenérgicos, particularmente en los sistemas frontales subcorticales, corteza cerebral prefrontal, en las regiones ventral, medial, dorsolateral y la porción anterior del cíngulo. Basados en los datos de estudios previos que sugieren una herencia poligénica multifactorial, se han realizado esfuerzos continuos en la búsqueda de genes candidatos, a través de diferentes estrategias. Particularmente los receptores Alfa 2 adrenérgicos, se encuentran en la corteza cerebral, cumpliendo funciones de asociación, memoria y es el sitio de acción de fármacos utilizados comúnmente en el tratamiento de este trastorno, siendo esta la principal evidencia de la asociación de este receptor con el desarrollo del THDA. Hasta la fecha se han descrito más de 80 polimorfismos en el gen (ADRA2A), algunos de los cuales se han asociado con la entidad. Sin embargo, los resultados son controversiales y varían según la metodología diagnóstica empleada y la población estudiada, antecedentes y comorbilidades. Este trabajo pretende establecer si las variaciones en la secuencia codificante del gen ADRA2A, podrían relacionarse con el fenotipo del Trastorno de Hiperactividad y el Déficit de Atención.

Diferencias individuales y desarrollo de habilidades de liderazgo : el rol del locus de control

El presente proyecto se ha elaborado con la finalidad de encontrar la relación existente entre el liderazgo y el locus de control, por medio de una revisión documental que permita dar una visión más amplia de estos dos fenómenos. De acuerdo con investigaciones realizadas, existen características individuales que afectan el desarrollo de liderazgo, lo cual a su vez tiene un impacto sobre el comportamiento de los individuos dentro de una sociedad. Uno de estos factores es el locus de control, el cual sesta determinado por características del individuo, y por el ambiente en el cual se desenvuelven las personas. Existen diferentes evidencias que soportan ésta relación entre locus de control y liderazgo. En éste estudio documental se describirán estos hallazgos, identificando las características del individuo y del contexto que influyen sobre ellos. Asimismo se pondrá en contexto a través del trabajo las características principales de los líderes y como se presentan las interacciones entre los lideres y seguidores, teniendo en cuenta que no todas las veces los seguidores desarrollan este papel al seguir a su líder, sino que por otro lado y estos pueden tomar parte fundamental en la interacción, influyendo de manera directa sobre el líder. Se recuerda que a los lideres los hacen sus seguidores y que sin estos no podrían desarrollar el papel de líder.

Impairment in movement skills of children with autistic spectrum disorders

We undertook this study to explore the degree of impairment in movement skills in children with autistic spectrum disorders (ASD) and a wide IQ range. Movement skills were measured using the Movement Assessment Battery for Children (M-ABC) in a large, well defined, population-derived group of children (n=101: 89 males,12 females; mean age 11y 4mo, SD 10mo; range 10y-14y 3mo) with childhood autism and broader ASD and a wide range of IQ scores. Additionally, we tested whether a parent-completed questionnaire, the Developmental Coordination Disorder Questionnaire (DCDQ), was useful in identifying children who met criteria for movement impairments after assessment (n=97 with complete M-ABCs and DCDQs). Of the children with ASD, 79% had definite movement impairments on the M-ABC; a further 10% had borderline problems. Children with childhood autism were more impaired than children with broader ASD, and children with an IQ less than 70 were more impaired than those with IQ more than 70. This is consistent with the view that movement impairments may arise from a more severe neurological impairment that also contributes to intellectual disability and more severe autism. Movement impairment was not associated with everyday adaptive behaviour once the effect of IQ was controlled for. The DCDQ performed moderately well as a screen for possible motor difficulties. Movement impairments are common in children with ASD. Systematic assessment of movement abilities should be considered a routine investigation.

IQ in children with autism spectrum disorders: data from the Special Needs and Autism Project (SNAP)

Background Autism spectrum disorder (ASD) was once considered to be highly associated with intellectual disability and to show a characteristic IQ profile, with strengths in performance over verbal abilities and a distinctive pattern of ‘peaks’ and ‘troughs’ at the subtest level. However, there are few data from epidemiological studies. Method Comprehensive clinical assessments were conducted with 156 children aged 10–14 years [mean (s.d.)=11.7 (0.9)], seen as part of an epidemiological study (81 childhood autism, 75 other ASD). A sample weighting procedure enabled us to estimate characteristics of the total ASD population. Results Of the 75 children with ASD, 55% had an intellectual disability (IQ<70) but only 16% had moderate to severe intellectual disability (IQ<50); 28% had average intelligence (115>IQ>85) but only 3% were of above average intelligence (IQ>115). There was some evidence for a clinically significant Performance/Verbal IQ (PIQ/VIQ) discrepancy but discrepant verbal versus performance skills were not associated with a particular pattern of symptoms, as has been reported previously. There was mixed evidence of a characteristic subtest profile: whereas some previously reported patterns were supported (e.g. poor Comprehension), others were not (e.g. no ‘peak’ in Block Design). Adaptive skills were significantly lower than IQ and were associated with severity of early social impairment and also IQ. Conclusions In this epidemiological sample, ASD was less strongly associated with intellectual disability than traditionally held and there was only limited evidence of a distinctive IQ profile. Adaptive outcome was significantly impaired even for those children of average intelligence.

Social approach in preschool children with Williams syndrome: the role of the face

Background Indiscriminate social approach behaviour is a salient aspect of the Williams syndrome (WS) behavioural phenotype. The present study examines approach behaviour in preschoolers with WS and evaluates the role of the face in WS social approach behaviour. Method Ten preschoolers with WS (aged 3-6 years) and two groups of typically developing children, matched to the WS group on chronological or mental age, participated in an observed play session. The play session incorporated social and non-social components including two components that assessed approach behaviour towards strangers, one in which the stranger’s face could be seen and one in which the stranger’s face was covered. Results In response to the non-social aspects of the play session, the WS group behaved similarly to both control groups. In contrast, the preschoolers with WS were significantly more willing than either control group to engage with a stranger, even when the stranger’s face could not be seen. Conclusion The findings challenge the hypothesis that an unusual attraction to the face directly motivates social approach behaviour in individuals with WS.

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (similar to 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.

A Rare Case of Trisomy 15pter-q21.2 Due to a De Novo Marker Chromosome

Supernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are derived from acrocentric chromosomes and half of them include the short arm of chromosome 15. Generally, they appear as bisatellited isodicentric marker chromosomes, most of them are symmetric. These chromosomes are normally originated de novo and are associated with mild to severe intellectual disability but not with physical abnormalities. We report on a patient with an SMC studied using classical and molecular cytogenetic procedures (G and C banding, NOR staining, painting and centromeric fluorescent in situ hybridization (FISH), BAC-FISH, and SKY). The MLPA technique and DNA polymorphic markers were used in order to identify its parental origin. The marker chromosome, monosatellited and monocentric, was found to be derived from a maternal chromosome 15 and was defined as 15pter-q21.2. This is the report of the largest de novo monosatellited 15q marker chromosome ever published presenting detailed cytogenetic and clinical data. It was associated with a phenotype including cardiac defect, absence of septum pellucidum, and dysplasia of the corpus callosum. (C) 2010 Wiley-Liss, Inc.

De sociala konstruktionerna av hög ålder och funktionsförmåga : exemplet intellektuellt funktionshinder

The social constructions of old age and ability – the example of intellectual disability The aim of this article is to analyse and discuss constructions of old age as they are reflected in disability research with the focus on ageing and what it means to be elderly. The results of this study show three tendencies. First, the consequences of the impairment tend to be at forefront in studies of experiences of ageing among persons with intellectual disabilities. This obscures the fact that people with intellectual disabilities partake in a common idealisation of youthfulness that often contains ambivalence towards old age. Second, the concept of old age in disability research embraces significantly wider chronological age groups than those considered in ageing studies. Third, both disability and ageing research tend to use a late modern perspective of individualization as a way to illustrate new options and strategies, including resistance against stigmatisation. This article illustrates that social constructions of disability and old age are tightly interwoven, and constitute negations of normatively defined ideals of normality in a society where ability are highly regarded.

O currículo escolar: uma análise na perspectiva da inclusão de alunos com deficiência intelectual

A mid the many transformations and advances that the contemporary society is going through, the right to education is a topic that does not end and becomes increasingly present, given the urgency of including students with disabilities in education. Given this new reality, schools are challenged to receive them with quality, and implement actions that promote favorable conditions for their development at school. Accordingly, it is fundamental the organizational restructuring of education to meet the specific needs of students. Thus, it is imperative that educational institutions defining the type of person who intend to form and the society proposing to build. These are aspects that precede any question, since the knowledge covered in the curriculum will contribute directly to the creation of human beings are involved there. Based on this theme, this assignment reports aspects of a survey of a local public school, located in Natal/RN, which deals with the analysis of the curriculum and its implementation in teaching practice in the classroom, before the inclusion of students with disabilities intellectual. Thus, to undertake a study of case with five professionals at school, involving documentary analysis and observation of the curriculum of the pedagogical practice of teachers in the classroom, as well as conducting an interview with all stakeholders. To this end, the data analyzed shows that, although the right of citizens with disabilities is guaranteed by constitutional law, the school, locus of this study, have not realized the extent of conquest. Does not recognize the fact of being in school and learn together with others is also a right of persons with disabilities. Thus, while your resume is to present a progressive vision, believed to be open, concerned with the selection and organization of content, with flexibility in defining the goals, with the search for diversification of the procedures adopted, as well as the planning activities teaching and learning based on the level of student learning, this is not effective in teaching practice, either through ignorance of the guidelines defined either by lack of knowledge about the proposal and an inclusive curriculum can provide answers to all educational students, including those with intellectual disability

Educação inclusiva: práticas de professores frente à deficiência intelectual

The present work is a survey of pedagogical practices of teachers who experience the daily school with students with Intellectual Disability (ID) in their classrooms, considered inclusive. The study was conducted in academic year 2010 in a municipal school in Natal-RN, aimed at investigating the pedagogical practices developed by the participating teachers as well as its view of the front of Intellectual Disabilities students who are inserted in the initial years of Elementary School. In methodological choice, considering the nature of the phenomenon, we chose the qualitative approach and the case study method. The observation and semi-structured interview were used as procedures, which contributed to a significant collection of data in an attempt to answer the objectives. The study subjects were selected by convenience and were formed into two teachers from Elementary School I, linked to the public educational system, which volunteered to collaborate in this research. The analysis of the observations and of the speeches made possible build pedagogical considerations on the action with students with Intellectual Disabilities in a regular school. The results point to a practice covered with a traditional pedagogy, with a few adjustments, although there is an initial process of change, what we observe in the classroom and captured in the words, because, at various times, we saw an interest in developing a pedagogy of Freire. One aspect that caught our attention refers to the formative action at school for these teachers. We found its incipiency, because this does not happen in a systematic way at school. Throughout the years investigated, the teachers had no access to any form of training neither to any form of specialized monitoring. We realize that there is still a concept of Intellectual Disability that makes difficult to "see" this student as a human being having learning opportunities. The aspects that interfere in the formation hinder the development of a pedagogical practice that meets the uniqueness of its customers and promotes a truly effective school inclusion, consistent with social rights proclaimed in this century. We believe in the irreversibility of the inclusive process initiated a few decades ago and that obstacles to the practice of teaching students with ID are visible and possible to overcome if they are turned into challenges for all those who compose the school, the municipal education system and those who build public policies for inclusive education

A memória de curto prazo e a síndrome de down: a relação entre contextos de desenvolvimento

Down syndrome (DS) is one of the most frequent causes of intellectual disability, affecting one in every 600 to 1000 live births. Studies have demonstrated that people with DS have a lower capacity for short-term memory (STM) and working memory (WM), which affects their capability to learn new words and to follow spoken instructions, specially when they involve multiple information or consecutive orders/orientations. It seems that the basis of the learning process, as it happens with language and mathematics comprehension and reasoning, relies in the STM and WM systems. Individuals with DS are increasingly included in mainstream education, and yet, very few researches have been conducted to investigate the influence of memory development and the type of enrollment (regular school and special school). This study investigated the relationship between the type of school enrollment with the performance on STM tests and also, the relationship of this performance with early stimulation (ES). The tests used in the first research were the digit span, free recall, word recognition and subtests of the Wechsler Intelligence Scale for Children Third Edition (WISC-III). Individuals enrolled in the regular schools group had higher scores on the digit span test and the subtests of the WISC-III. In the free recall and recognition tests, no differences were found. This study indicates that the type of enrollment might influence the memory development of individuals with DS and clearly points the need for future investigations. In the second research, the tests used were the digit span, free word recall and subtests of the WISC-III. The test results showed better performance by adults that received ES before six months of age. The studies showed improvement in STM both in people who attended or were attending regular school, as well as those who benefited from ES before six months of age. However, some issues still need to be better understood. What is the relation between this stimulation with the individual s education? Since ES may reflect a greater family involvement with the individual, what is the role of emotional components derived from this involvement in the cognitive improvement? These and other questions are part of the continuity of this study

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have evaluated 30 patients with suspected SMS and identified SMS-associated classical 17p11.2 deletions in six patients, an atypical deletion of ∼139 kb that partially deletes the RAI1 gene in one patient, and RAI1 gene nonsynonymous alterations of unknown significance in two unrelated patients. The RAI1 mutant proteins showed no significant alterations in molecular weight, subcellular localization and transcriptional activity. Clinical features of patients with or without 17p11.2 deletions and mutations involving the RAI1 gene were compared to identify phenotypes that may be useful in diagnosing patients with SMS. © 2012 Macmillan Publishers Limited All rights reserved.