An Overview of the Adaptive Behaviour Profile in Young Children with Angelman Syndrome: Insights from the Global Angelman Syndrome Registry

Objectives: Angelman syndrome (AS) is a rare genetic disorder that affects the expression of the UBE3A gene within the central nervous system that profoundly impacts neurodevelopment. Individuals with AS experience significant challenges across multiple adaptive behaviour domains including communication, motor skills, and the ability to independently perform daily functions such as feeding, and toileting. Furthermore, persons with AS can demonstrate specific behaviours that limit their ability to participate within their social environment that vary with age. The aim of this paper is to explore the adaptive behaviour profile through parent report from the Global Angelman Syndrome Registry. Methods: Specific parent report data from the Global Angelman Syndrome Registry were analysed to explore the adaptive profile of 204 young children, under the age of 6 years old, with formal diagnoses of AS. Analysis of data focused on communication skills, gross and fine motor skills, daily self-care skills (feeding, toileting, and dressing), and behavioural characteristics. Several relationships were explored: (a) the age at which certain skills were first performed based on genotype; (b) abilities in motor and adaptive behaviours, according to age and genotype, and (c) the frequency at which children performed specific communication skills and the presence and frequency of challenging behaviours, across age and genotype. Results: We visually present the ages at which frequent speech, walking, and independent dressing and toileting were first mastered by children. Additionally, we provide in-depth descriptives of expressive and receptive communication skills (including the use of alternative communication forms), fine and gross motor skills, eating, dressing, toileting, anxiety, aggression, and other behavioural characteristics. Conclusions: This cross-sectional profile of adaptive skills in 204 young children with AS showcases that although many communication, motor and adaptive skills were determined by age, children with a non-deletion aetiology exhibited advantages in communication skills, which may have impacted upon subsequent adaptive skills. The use of parent report in the present study provides valuable insight into the adaptive behaviour profile of young children with AS

Association between early and current gastro-intestinal symptoms and co-morbidities in children and adolescents with Angelman syndrome

Background Angelman syndrome (AS) is a neurogenetic disorder that causes severe intellectual disability, expressive language deficits, motor impairment, ataxia, sleep problems, epileptic seizures and a happy disposition. People with AS frequently experience gastrointestinal (GI) symptoms. Method This study used data from the Global Angelman Syndrome Registry to explore the relationship between early and current GI symptoms and co-morbidity in children and adolescents with AS (\u1d62f = 173). Two groups that experienced a high (\u1d62f = 91) and a low (\u1d62f = 82) frequency of GI symptoms were examined in relation to feeding and GI history in infancy, sleep and toileting problems, levels of language and communication and challenging behaviours. Predictors of GI symptoms were then investigated using a series of logistic regressions. Results This analysis found that constipation and gastroesophageal reflux affected 84% and 64%, of the sample, respectively. The high frequency of GI symptoms were significantly associated with: ‘refusal to nurse’, ‘vomiting’, ‘arching’, ‘difficulty gaining weight’, gastroesophageal reflux, ‘solid food transition’, frequency of night-time urinary continence and sleep hyperhidrosis during infancy. GI symptoms were not significantly associated with sleep, toileting, language or challenging behaviours. Significant predictors of high frequency GI symptoms were gastroesophageal reflux and sleep hyperhidrosis. Conclusions Future research needs to investigate the association between AS and GI co-morbidity in adults with AS

How does student educational background affect transition into the first year of veterinary school? Academic performance and support needs in university education

The first year of university is critical in shaping persistence decisions (whether students continue with and complete their degrees) and plays a formative role in influencing student attitudes and approaches to learning. Previous educational experiences, especially previous university education, shape the students’ ability to adapt to the university environment and the study approaches they require to perform well in highly demanding professional programs such as medicine and veterinary medicine. The aim of this research was to explore the support mechanisms, academic achievements, and perception of students with different educational backgrounds in their first year of veterinary school. Using questionnaire data and examination grades, the effects upon perceptions, needs, and educational attainment in first-year students with and without prior university experience were analyzed to enable an in-depth understanding of their needs. Our findings show that school leavers (successfully completed secondary education, but no prior university experience) were outperformed in early exams by those who had previously graduated from university (even from unrelated degrees). Large variations in student perceptions and support needs were discovered between the two groups: graduate students perceived the difficulty and workload as less challenging and valued financial and IT support. Each student is an individual, but ensuring that universities understand their students and provide both academic and non-academic support is essential. This research explores the needs of veterinary students and offers insights into continued provision of support and improvements that can be made to help students achieve their potential and allow informed "Best Practice"

Translation to practice: a randomised controlled study of an evidenced based booklet targeted at breast care nurses in the United Kingdom

BACKGROUND: In the United Kingdom (UK), it was documented that a problem of knowledge transfer existed within the speciality of breast-cancer care, thus depriving patients of receiving optimal care. Despite increasingly robust research evidence indicating recommendation of whole body exercise for people affected by breast cancer, commensurate changes to practice were not noted amongst breast-care nurses (BCNs). AIM: To evaluate the effect of a targeted booklet, Exercise and Breast Cancer: A Booklet for Breast-Care Nurses, on changes in knowledge, reported practice, and attitudes of BCNs in the UK. METHOD: A prospective, experimental approach was used for designing a pre- and post-test randomised controlled study. Comparisons of knowledge, reported practice, and attitudes based on responses to a questionnaire were made at two time-points in two groups of BCNs (control and experimental). The unit of randomisation and analysis was hospital clusters of BCNs. The sample comprised 92 nurses from 62 hospitals. Analysis consisted of descriptive statistics and clustered regression techniques: clustered logistic regression for knowledge items, clustered linear regression for knowledge scores, ologit for attitude and reported practice items, and clustered multiple regression for paired and multiple variable analysis. RESULTS: A statistically significant increase in knowledge and changes in reported practice and attitudes were found. Robust variables affecting knowledge acquisition were: promotion of health, promotion of exercise, and understanding how exercise can reduce cancer-related fatigue. DISCUSSION: The study has shown that evidence-based printed material, such as an information booklet, can be used as an effective research dissemination method when developed for needs, values, and context of a target audience. CONCLUSIONS: This practical approach to research dissemination could be replicated and applied to other groups of nurses.</p

The impact of patient self assessment of deformity on HRQL in adults with scoliosis

Background: Body image and HRQL are significant issues for patients with scoliosis due to cosmetic deformity, physical and psychological symptoms, and treatment factors. A selective review of scoliosis literature revealed that self report measures of body image and HRQL share unreliable correlations with radiographic measures and clinician recommendations for surgery. However, current body image and HRQL measures do not indicate which aspects of scoliosis deformity are the most distressing for patients. The WRVAS is an instrument designed to evaluate patient self assessment of deformity, and may show some promise in identifying aspects of deformity most troubling to patients. Previous research on adolescents with scoliosis supports the use of the WRVAS as a clinical tool, as the instrument shares strong correlations with radiographic measures and quality of life instruments. There has been limited use of this instrument on adult populations. Methods: The WRVAS and the SF-36v2, a HRQL measure, were administered to 71 adults with scoliosis, along with a form to report age and gender. Preliminary validation analyses were performed on the WRVAS (floor and ceiling effects, internal consistency and collinearity, correlations with the SF-36v2, and multiple regression with the WRVAS total score as the predictor, and SF-36v2 scores as outcomes). Results: The psychometric properties of the WRVAS were acceptable. Older participants perceived their deformities as more severe than younger participants. More severe deformities were associated with lower scores on the Physical Component Summary Score of the SF-36v2. Total WRVAS score also predicted Physical Component Summary scores. Conclusion: The results of the current study indicate that the WRVAS is a reliable tool to use with adult patients, and that patient self assessment of deformity shared a relationship with physical rather than psychological aspects of HRQL. The current and previous studies concur that revision of the WRVAS is necessary to more accurately represent the diversity of scoliosis deformities. Ability to identify disturbing aspects of deformity could potentially be improved by evaluating each WRVAS items against indicators of pain, physical/psychosocial function, and self image from previous measures such as the SRS, SF-36 or BSSQ-deformity

Exploring concepts of health with male prisoners in three category-C English prisons

Lay understandings of health and illness have a well established track record and a plethora of research now exists which has examined these issues. However, there is a dearth of research which has examined the perspectives of those who are imprisoned. This paper attempts to address this research gap. The paper is timely given that calls have been made to examine lay perspectives in different geographical locations and a need to re-examine health promotion approaches in prison settings. Qualitative data from thirty-six male sentenced prisoners from three prisons in England were collected. The data was analysed in accordance with Attride-Stirling's (2001) thematic network approach. Although the men's perceptions of health were broadly similar to the general population, some interesting findings emerged which were directly related to prison life and its associated structures. These included access to the outdoors and time out of their prison cell, as well as maintaining relationships with family members through visits. The paper proposes that prisoners' lay views should be given higher priority given that prison health has traditionally been associated with medical treatment and the bio-medical paradigm more generally. It also suggests that in order to fulfil the World Health Organization's (WHO) vision of viewing prisons as health promoting settings, lay views should be recognised to shape future health promotion policy and practice

Coping with methodological dilemmas; about establishing the effectiveness of interventions in routine medical practice

BACKGROUND: The aim of this paper is to show how researchers balance between scientific rigour and localisation in conducting pragmatic trial research. Our case is the Quattro Study, a pragmatic trial on the effectiveness of multidisciplinary patient care teams used in primary health care centres in deprived neighbourhoods of two major cities in the Netherlands for intensified secondary prevention of cardiovascular diseases. METHODS: For this study an ethnographic design was used. We observed and interviewed the researchers and the practice nurses. All gathered research documents, transcribed observations and interviews were analysed thematically. RESULTS: Conducting a pragmatic trial is a continuous balancing act between meeting methodological demands and implementing a complex intervention in routine primary health care. As an effect, the research design had to be adjusted pragmatically several times and the intervention that was meant to be tailor-made became a rather stringent procedure. CONCLUSION: A pragmatic trial research is a dynamic process that, in order to be able to assess the validity and reliability of any effects of interventions must also have a continuous process of methodological and practical reflection. Ethnographic analysis, as we show, is therefore of complementary value