Communication: How do females with Rett syndrome perform this activity and what factors influence performance?

Background Rett syndrome is a neurodevelopmental disorder primarily caused by mutations in the X-linked methyl-Cp2G-binding protein 2 (MECP2) gene. The disorder affects approximately 1 in 9000 females and is usually associated with language, physical and intellectual impairments, each of which contributes to difficulties with communication. In Rett syndrome, eye gaze is considered a common form of communication and conventional methods, such as talking and gestures, less common. Females appear to use these forms of communication to serve a number of functions including choice making, requesting, social convention, bringing attention to themselves, and to reject, comment and answer. However, the literature is limited due to poorly described case inclusion criteria, the inclusion of cases without a diagnosis of Rett syndrome and small sample sizes. Furthermore, there is a paucity of research on the numerous barriers and facilitators to successful communication. Therefore the aim of this research was to describe the performance of communication tasks in girls and women with Rett syndrome and to investigate factors that are positively and negatively associated with performance. Methods Qualitative and quantitative methods were used to understand the communication performance of girls and women with Rett syndrome and the impairments of body function and structure, activity limitations and contextual factors that influence these. The International Classification of Functioning Disability and Health - Child and Youth Version (ICF-CY) and The Communication Matrix were used as the theoretical framework throughout the research. This thesis includes four studies of which the first employed interviews with caregivers, the second and third used caregiver questionnaire data and the final utilised video data of girls and women engaged in a communicative interaction. Data were used to describe the use of specific communication modalities such as eye gaze, gestures and speech, and communicative functions including the ability to make requests and choices. Relationships between the performance of these communication tasks and factors including MECP2 mutation type, age and level of motor abilities were investigated. Results During interviews all parents reported their daughters were able to express discomfort and pleasure, and make requests and choices using a variety of modalities including body movements and eye gaze. They also reported level of functional abilities and environmental factors influenced communication performance. Questionnaire data on speech-language abilities showed 89% (685/766) acquired speech-language abilities in the form of babble or words at some point in time. Of those who acquired babble or words, 85% (581/685) experienced a regression in these abilities. Those with a p.Arg133Cys mutation were the most likely to use one or more words, prior to (RRR=3.45; 95% CI 1.15-10.41) and after (RRR=5.99; 95% CI 2.00-17.92) speech-language regression. Australian questionnaire data (n=151) found women aged 19 years or older had the lowest scores for eye gaze. Females with better gross motor abilities had higher scores for the use of eye gaze and gestures. The use of eye gaze did not vary across mutation groups, but those with a C-terminal deletion had the highest scores for use of gestures. The video study found 82.8% (53/64) of the sample made a choice, most using eye gaze. Of those who made a choice, 50% did so within 8 seconds. Conclusions In using qualitative and quantitative methods, and the ICF-CY and The Communication Matrix as the theoretical framework, this thesis was able to provide new insight into the way in which females with Rett syndrome communicate while considering the influence of impairments of body function and structure, activity limitations and contextual factors. We found that females with Rett syndrome share communicative strengths including the use of eye gaze and the ability to make choices. Multidisciplinary assessment of communication abilities, considering the range of factors identified to impact communication, and using multiple sources of information, will likely result in a more accurate assessment of the communication abilities of girls and women with Rett syndrome. Interventions should target communicative strengths, such as the use of eye gaze, and factors shown to impact communication, including the skills of communication partners. Reporting and accounting for genetic information in future research would help improve our understanding of the relationship between MECP2 and communication abilities, which may in turn improve our knowledge of the role MECP2 plays in neurodevelopment

An analysis of use of equipment and respite services by families with a daughter with Rett Syndrome

Purpose: This literature review examines the body of knowledge concerning the use of respite services and assistive products and technology, child and family characteristics, and parental well-being among families with a daughter with Rett syndrome or with a child with another developmental disability. Method: Literature published in the time period 1983-2009 was searched. Studies were included in this review if they reported use of respite services or assistive products and technology among families with a daughter with Rett syndrome or with a child with another developmental disability. Child and family characteristics and parental well-being were also considered. Results and conclusions: Respite services have the potential to decrease parental stress and therefore may provide an important resource for families with a child with a disability. Additionally a number of characteristics including the age and clinical severity of a child with a disability and where their family lives may impact on the use of supportive resources. However there is a clear need for research to examine the relationships between child and family characteristics, the use of supportive resources and parental well-being in families with Rett syndrome. Purpose: To assess factors that could influence use of equipment and respite services among families with a daughter with Rett syndrome and to examine the relationships between the use of these resources and the health of female caregivers. Method: Parent questionnaire data from 2004 and 2006 in the population-based Australian Rett Syndrome Database was the source of data. Logistic regression was used to analyse relationships between child factors (age, mobility, clinical severity and behaviour), family factors (accessibility and socioeconomic factors) and the use of equipment and respite services in 2004. Linear regression was used to analyse the relationship between the use of these resources in 2004 and the health of female caregivers in 2006. Results: Data from 170 families with girls and women aged 2-28 years was used in this study. The majority (88.3%) of families used at least one piece of equipment in 2004. Increasing mobility restrictions were associated with the use of more equipment. Most (80.1 %) of the families had also used some type of respite services in the past. The use of more home respite was associated with severely restricted levels of mobility and mothers having a vocational or university qualification. The use of more overnight respite was associated with increasing age and presence of behaviours and, mothers being employed in full-time or part-time work. Female caregivers had significantly lower mental health outcomes than the Australian female norm (

A universal BMV-based RNA recombination system—how to search for general rules in RNA recombination

At present, there is no doubt that RNA recombination is one of the major factors responsible for the generation of new RNA viruses and retroviruses. Numerous experimental systems have been created to investigate this complex phenomenon. Consequently, specific RNA structural motifs mediating recombination have been identified in several viruses. Unfortunately, up till now a unified model of genetic RNA recombination has not been formulated, mainly due to difficulties with the direct comparison of data obtained for different RNA-based viruses. To solve this problem, we have attempted to construct a universal system in which the recombination activity of various RNA sequences could be tested. To this end, we have used brome mosaic virus, a model (+)RNA virus of plants, for which the structural requirements of RNA recombination are well defined. The effectiveness of the new homomolecular system has been proven in an experiment involving two RNA sequences derived from the hepatitis C virus genome. In addition, comparison of the data obtained with the homomolecular system with those generated earlier using the heteromolecular one has provided new evidence that the mechanisms of homologous and non-homologous recombination are different and depend on the virus' mode of replication

Choice making in Rett syndrome: a descriptive study using video data

Purpose: To describe the choice-making abilities of girls and women with Rett syndrome. Method: Females with Rett syndrome registered with the Australian Rett Syndrome Database with a pathogenic MECP2 mutation were included in this study. Video clips showing choice making in 64 females at a median age of 11.6 years (range 2.3–35.6 years) were analysed. Video clips were coded for the location and nature of the choice-making interaction, and the actions of the communication partner and female with Rett syndrome. Results: The majority (82.8%, 53/64) of females made a choice, most using eye gaze. Just under half (24/53) used one modality to communicate their choice, 52.8% used two modalities and one used three modalities. Of those who made a choice, 50% did so within 8 s. The length of time to make a choice did not appear to vary with age. During choice making, 57.8% (37/64) of communication partners used language and gestures, 39.1% (25/64) used only language and two used language, gestures and symbols within the interaction. Conclusions: The provision of adequate time allowing for a response and observation for the use of multiple modalities could promote effective choice making in females with Rett syndrome

Predictive value of systemic inflammatory response index (SIRI) for complex coronary artery disease occurrence in patients presenting with angina equivalent symptoms

Background: Currently, atherosclerotic cardiovascular disease is the major cause of mortality world-wide. Inflammatory processes are postulated to be a major driving force for coronary plaque initiation and progression and can be evaluated by simple inflammatory markers from whole blood count analysis. Among hematological indexes, systemic inflammatory response index (SIRI) is defined as a quotient of neutrophils and monocytes, divided by lymphocyte count. The aim of the present retrospective analysis was to present the predictive role of SIRI for coronary artery disease (CAD) occurrence. Methods: There were 256 patients (174 [68%] men and 82 [32%] women) in the median (Q1–Q3) age of 67 (58–72) years enrolled into retrospective analysis due to angina pectoris equivalent symptoms. A model for predicting CAD was created based on demographic data and blood cell parameters reflecting an inflammatory response. Results: In patients with single/complex coronary disease the logistic regression multivariable analysis revealed predictive value of male gender (odds ratio [OR]: 3.98, 95% confidence interval [CI]: 1.38–11.42, p = 0.010), age (OR: 5.57, 95% CI: 0.83–0.98, p = 0.001), body mass index (OR: 0.89, 95% CI: 0.81–0.98, p = 0.012), and smoking (OR: 3.66, 95% CI: 1.71–18.22, p = 0.004). Among laboratory parameters, SIRI (OR: 5.52, 95% CI: 1.89–16.15, p = 0.029) and red blood cell distribution width (OR: 3.66, 95% CI: 1.67–8.04, p = 0.001) were found significant. Conclusions: Systemic inflammatory response index, a simple hematological index, may be helpful in patients with angina equivalent symptoms to diagnose CAD. Patients presenting with SIRI above 1.22 (area under the curve: 0.725, p < 0.001) have a higher probability of single and complex coronary disease

Predictive value of systemic inflammatory response index (SIRI) for complex coronary artery disease occurrence in patients presenting with angina equivalent symptoms

BACKGROUND: Currently, atherosclerotic cardiovascular disease is the major cause of mortality world-wide. Inflammatory processes are postulated to be a major driving force for coronary plaque initiation and progression and can be evaluated by simple inflammatory markers from whole blood count analysis. Among hematological indexes, systemic inflammatory response index (SIRI) is defined as a quotient of neutrophils and monocytes, divided by lymphocyte count. The aim of the present retrospective analysis was to present the predictive role of SIRI for coronary artery disease (CAD) occurrence. METHODS: There were 256 patients (174 [68%] men and 82 [32%] women) in the median (Q1–Q3) age of 67 (58–72) years enrolled into retrospective analysis due to angina pectoris equivalent symptoms. A model for predicting CAD was created based on demographic data and blood cell parameters reflecting an inflammatory response. RESULTS: In patients with single/complex coronary disease the logistic regression multivariable analysis revealed predictive value of male gender (odds ratio [OR]: 3.98, 95% confidence interval [CI]: 1.38–11.42, p = 0.010), age (OR: 5.57, 95% CI: 0.83–0.98, p = 0.001), body mass index (OR: 0.89, 95% CI: 0.81–0.98, p = 0.012), and smoking (OR: 3.66, 95% CI: 1.71–18.22, p = 0.004). Among laboratory parameters, SIRI (OR: 5.52, 95% CI: 1.89–16.15, p = 0.029) and red blood cell distribution width (OR: 3.66, 95% CI: 1.67–8.04, p = 0.001) were found significant. CONCLUSIONS: Systemic inflammatory response index, a simple hematological index, may be helpful in patients with angina equivalent symptoms to diagnose CAD. Patients presenting with SIRI above 1.22 (area under the curve: 0.725, p < 0.001) have a higher probability of single and complex coronary disease

Co-design of an NHS Primary Care Health Check for Autistic Adults

Autistic people experience more health conditions and earlier mortality. This study investigated views about a primary care health check for autistic adults to inform its design. Fifty-one people participated in consultation groups and interviews, comprising autistic adults (some with co-occurring intellectual disabilities), adults with intellectual disabilities, supporters and health professionals. Participants wanted the health check to cover physical and mental health and social functioning. They emphasised the importance of sharing information about individual needs and associated adjustments before the health check. They highlighted the need to change the way healthcare services communicate with autistic people, such as reducing phone contact and booking appointments online. They wanted individual choice in how the health check was completed, with video call or email offered alongside face-to-face. Participants raised the need for further training of primary care staff on autism, to highlight the diversity of experiences of autistic people and ways in which difficulties, such as pain, may present differently. Clinicians raised questions about the capacity of mental health and social care services to meet the additional needs potentially identified through the health check. This study represents a key step in the development and co-design of a UK primary care health check for autistic people

Analysis of mass spectrometry data from the secretome of an explant model of articular cartilage exposed to pro-inflammatory and anti-inflammatory stimuli using machine learning

Background: Osteoarthritis (OA) is an inflammatory disease of synovial joints involving the loss and degeneration of articular cartilage. The gold standard for evaluating cartilage loss in OA is the measurement of joint space width on standard radiographs. However, in most cases the diagnosis is made well after the onset of the disease, when the symptoms are well established. Identification of early biomarkers of OA can facilitate earlier diagnosis, improve disease monitoring and predict responses to therapeutic interventions. Methods: This study describes the bioinformatic analysis of data generated from high throughput proteomics for identification of potential biomarkers of OA. The mass spectrometry data was generated using a canine explant model of articular cartilage treated with the pro-inflammatory cytokine interleukin 1 β (IL-1β). The bioinformatics analysis involved the application of machine learning and network analysis to the proteomic mass spectrometry data. A rule based machine learning technique, BioHEL, was used to create a model that classified the samples into their relevant treatment groups by identifying those proteins that separated samples into their respective groups. The proteins identified were considered to be potential biomarkers. Protein networks were also generated; from these networks, proteins pivotal to the classification were identified. Results: BioHEL correctly classified eighteen out of twenty-three samples, giving a classification accuracy of 78.3% for the dataset. The dataset included the four classes of control, IL-1β, carprofen, and IL-1β and carprofen together. This exceeded the other machine learners that were used for a comparison, on the same dataset, with the exception of another rule-based method, JRip, which performed equally well. The proteins that were most frequently used in rules generated by BioHEL were found to include a number of relevant proteins including matrix metalloproteinase 3, interleukin 8 and matrix gla protein. Conclusions: Using this protocol, combining an in vitro model of OA with bioinformatics analysis, a number of relevant extracellular matrix proteins were identified, thereby supporting the application of these bioinformatics tools for analysis of proteomic data from in vitro models of cartilage degradation