969 resultados para autosomal dominant disorder


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Autism Spectrum Disorders (ASD) are pervasive developmental disorders that are diagnosed along a continuum of behavioural variants in social interaction, communication, and imagination. Some individuals on the spectrum are ‘high-functioning’ and able to cope in every day environments, while others are severely affected, non-verbal, and may have comorbid diagnoses, such as intellectual disability, epilepsy, and/or obsessional, conduct, or mental health disorders. ASD diagnosis can be formulated from as early as 6-months to one year of age, although it is more common that children are aged 2-3 years before diagnosis is affirmed. Frequently, higher functioning individuals are not diagnosed until adolescence or even adulthood.

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A substantial acceleration of the Baylis-Hillman reaction between cyclohexenone and benzaldehyde has been observed when the reaction is conducted in water. Several different amine catalysts were tested, and as with reactions conducted in the absence of solvent, 3-hydroxyquinuclidine was found to be the optimum catalyst in terms of rate. The reaction has been extended to other aldehyde electrophiles including pivaldehyde. Attempts to extend this work to acrylates was only partially successful as rapid hydrolysis of methyl and ethyl acrylates occurred under the base-catalyzed and water-promoted conditions. However, tert-butyl acrylates were sufficiently stable to couple with relatively reactive electrophiles. Further studies on the use of polar solvents revealed that formamide also provided significant acceleration and the use of 5 equiv of formamide (optimum amount) gave faster rates than reactions conducted in water. Using formamide, further acceleration was achieved in the presence of Yb(OTf)(3) (5 mol %). The scope of the new conditions was tested with a range of Michael acceptors and benzaldehyde and with a range of electrophiles and ethyl acrylate. The origin of the rate acceleration is discussed.

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There is a growing consensus that an appropriate classroom environment will aid the performance of the pupil with autism spectrum disorder (ASD). There are, however, very few design guidelines available when considering ASD and the school environment. Such guidelines that do exist tend only to be in general terms. Therefore, this article seeks to highlight design considerations specifically for the ASD-friendly Key Stage 1 (age five to eight) classroom. It will first highlight some of the challenges for those with autism spectrum disorder in a school environment and the triad of challenges faced by architects and designers when considering ASD-friendly classroom design. It will then go on to describe the findings and results of a two-year study carried out in conjunction with the ASD teaching staff of Northern Ireland's Southern Education and Library Board. These consist of 16 specific design considerations for the Key Stage 1 ASD-friendly classroom applicable to all classrooms for pupils between five and eight years of age.

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Objective: Previous studies with patients diagnosed with Major Depressive Disorder (MDD) revealed deficits in working memory and executive functions. In the present study we investigated whether patients with MDD have the ability to allocate cognitive resources in dual task performance of a highly challenging cognitive task (working memory) and a task that is seemingly automatic in nature (postural control). Method: Fifteen young (18–35 years old) patients with MDD and 24 healthy age-matched controls performed a working memory task and two postural control tasks (standing on a stable or on a moving platform) both separately (single task) and concurrently (dual task). Results: Postural stability under single task conditions was similar in the two groups, and in line with earlier studies, MDD patients recalled fewer working memory items than controls. To equate working memory challenges for patients and controls, task difficulty (number of items presented) in dual task was individually adjusted such that accuracy of working memory performance was similar for the two groups under single task conditions. Patients showed greater postural instability in dual task performance on the stable platform, and more importantly when posture task difficulty increased (moving platform) they showed deficits in both working memory accuracy and postural stability compared with healthy controls. Conclusions: We interpret our results as evidence for executive control deficits in MDD patients that affect their task coordination. In multitasking, these deficits affect not only cognitive but also sensorimotor task performance.

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Architects and designers have a responsibility to provide an inclusive built environment. However for those with a diagnosis of Autism Spectrum Disorder (ASD), the built environment can be a frightening and confusing place, difficult to negotiate and tolerate. The challenge of integrating more fully into society is denied by an alienating built environment. For ASD pupils in a poorly designed school, their environment can distance them from learning. Instead, if more at ease in their surroundings, in an ASD-friendly environment, the ASD pupil stands a greater chance of doing better.

However a difficulty exists in that most architects are not knowledgeable in designing for those with ASD. Any available design guidelines for architects tend, because of the inherent difficulties associated with a spectrum, to be general in their information. Therefore, if wanting to provide an ASD-friendly learning environment, there is a need to ensure that teachers, as the experts, can most clearly and effectively impart their knowledge and requirements to architects.

This paper sets out the challenges and difficulties inherent in the design process when designing for ASD. It then sets out an alternative strategy to the usual method of drawing-centric dialogue between teacher and architect by using models instead as a basis for a more common language. An ASD Classroom Design Kit was designed and developed by Queen’s University of Belfast Architecture students. It was then used by ASD teaching staff from the Southern Education and Library Board in Northern Ireland as a case study to trial its effectiveness. The paper outlines how the study was carried out before concluding with reflections by both teaching staff and architect on using the ASD Classroom Design Kit.

It is hoped that this paper will firstly highlight the need for better dialogue between expert and architect when considering ASD and the Built Environment and secondly, that it may encourage others to consider using models to convey their ideas and knowledge when designing, not just for ASD, but for other Special Educational Needs and disabilities.

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Congenital Adrenal Hyperplasia (CAH) is a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by adrenal cortex. The predominant causes of the disorder are mutations in the CYP21A2 gene that encodes a Cytochrome P450 21-hydroxylase enzyme, which is central to steroidogenesis. The severity of the disease depends upon the extent of impaired enzymatic activity and can be classified under severe Classical form or the mild Non-Classical form, Molecular characterisation of CYP21A2 mutations can be used to predict clinical phenotype and disease severity based upon changes it brings in 21-hydroxylase enzyme structure. A humanized model of CYP21A2 has been used to map and investigate the structural role of all known disease-causing mutations. A structural explanation of clinical manifestation allows us to put forward criteria that might allow the prediction of clinical severity of the disease.

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Developmental coordination disorder (DCD) is defined as an impairment in the development of motor coordination that interferes with academic achievement or activities of daily living (DSM-IV). DCD has been reported to affect 5% to 9% of children in the normal population. This study describes the prevalence of DCD in a cohort of extremely low birth weight children (ELBW, <or = l800 g) at 8.9 years of age, from which were excluded children with major impairments. Seventy-three children were included in the study group, along with 18 term-born, socially matched controls. Of the 73 ELBW children, 37 (51%) were classified as having DCD. ELBW children with DCD also had significantly lower Performance IQ (PIQ) scores and were more likely (43%) to have a learning difficulty in arithmetic than ELBW children who did not have DCD. This study found that DCD is a common problem in school-aged ELBW children.

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Objectives. In a bipolar disorder (BD) sample, the present study investigated: (i) the prevalence of trauma; (ii) the specificity of autobiographical memory (AM); (iii) the influence of childhood trauma on AM specificity, current inter-episode depressive mood, and BD severity; (iv) if AM specificity moderates the influence of childhood trauma on current inter-episode depressive mood and BD severity.

Methods. Fifty-two participants were recruited from a geographically well-defined mental health service in Northern Ireland. The AM test, self-report measures of lifetime experience of trauma, childhood trauma, and depression were administered. Severity of BD was estimated utilizing a systematic tool for reviewing all available clinical data of participants.

Results. A high prevalence of trauma was found. A total of 94.2% (49/52) of participants reported experiencing a traumatic event in either childhood or adulthood. AM specificity was significantly lower than previous reports of such in major depression. However, whilst childhood trauma predicted current inter-episode depressive mood, childhood trauma was not predictive of BD severity or AM specificity. Moreover, the association between childhood trauma and depressed mood was not moderated by AM specificity.

Conclusions. The findings of this study suggest a relationship between early psychosocial adversity and current inter-episode depressive mood in BD. In addition, levels of overgeneral AM are similar to that reported for depression, but are unrelated to childhood trauma, current inter-episode depressive mood, or BD severity. Clinical implications include the importance of routine assessment of trauma in BD and the need for adjunctive evidenced-based psychological therapies.

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Objectives: This study examined: (i) the prevalence of lifetime trauma, childhood trauma and trauma related to civil unrest in a Bipolar Disorder sample, and (ii) the agreement between rates of disclosure of trauma in case notes and self-report questionnaires.

Methods: The case notes of sixty participants, recruited from a geographically well-defined mental health service in Northern Ireland, were examined for reports of experiences of lifetime, childhood and traumatic events related to civil conflict. The participants also completed self-report measures of trauma.

Results: Considerable differences were found between the prevalence of trauma as measured by self-report questionnaires and case notes reports. The prevalence of lifetime trauma as measured by the Trauma History Questionnaire was 61.7% (compared to case notes prevalence of 33.3%). The prevalence of moderate and severe levels of childhood trauma as measured by the Childhood Trauma Questionnaire was 65% (case notes 21.7%). Rates of trauma related to civil unrest were 35% (case notes 3.3%). Poor levels of agreement were found between all self-report trauma measures and case notes reports. Agreement on two categories of trauma (childhood emotional neglect and childhood physical neglect) reached statistical significance but kappa scores suggest this agreement was poor (kappa = .14. p<.05; kappa = .127, p<.05). © 2011 Elsevier B.V. All rights reserved.

Conclusions: It is probable that the increased rate of trauma disclosed in the self-report questionnaire arises because clinicians during initial assessment and subsequent treatment do not consistently enquire about trauma. The need for staff training is discussed. (C) 2011 Elsevier B.V. All rights reserved.