The tuberous sclerosis 2000 study:presentation initial assessments and implications for diagnosis and management

Aims: The Tuberous Sclerosis 2000 Study is the first comprehensive longitudinal study of tuberous sclerosis (TS) and aims to identify factors that determine prognosis. Mode of presentation and findings at initial assessments are reported here. Methods: Children aged 0-16 years newly diagnosed with TS in the UK were evaluated. Results: 125 children with TS were studied. 114 (91%) met clinical criteria for a definite diagnosis and the remaining 11 (9%) had pathogenic TSC1 or TSC2 mutations. In families with a definite clinical diagnosis, the detection rate for pathogenic mutations was 89%. 21 cases (17%) were identified prenatally, usually with abnormalities found at routine antenatal ultrasound examination. 30 cases (24%) presented before developing seizures and in 10 of these without a definite diagnosis at onset of seizures, genetic testing could have confirmed TS. 77 cases (62%) presented with seizures. Median age at recruitment assessment was 2.7 years (range:4 weeks-18 years). Dermatological features of TS were present in 81%. The detection rate of TS abnormalities was 20/107 (19%) for renal ultrasound including three cases with polycystic kidney disease, 51/88 (58%) for echocardiography, 29/35 (83%) for cranial CT and 95/104 (91%) for cranial MRI. 91% of cases had epilepsy and 65% had intellectual disability (IQ<70). Conclusions: Genetic testing can be valuable in confirming the diagnosis. Increasing numbers of cases present prenatally or in early infancy, before onset of seizures, raising important questions about whether these children should have EEG monitoring and concerning the criteria for starting anticonvulsant therapy.

Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome:recommendations for clinical management

Incontinentia Pigmenti (IP, OMIM#308300) is a rare X-linked genomic disorder (about 1,400 cases) that affects the neuroectodermal tissue and Central Nervous System (CNS). The objective of this study was to describe the cognitive-behavioural profile in children in order to plan a clinical intervention to improve their quality of life. A total of 14 girls (age range: from 1 year and 2 months to 12 years and 10 months) with IP and the IKBKG/NEMO gene deletion were submitted to a cognitive assessment including intelligence scales, language and visuo-spatial competence tests, learning ability tests, and a behavioural assessment. Five girls had severe to mild intellectual deficiencies and the remaining nine had a normal neurodevelopment. Four girls were of school age and two of these showed no intellectual disability, but had specific disabilities in calculation and arithmetic reasoning. This is the first description of the cognitive-behavioural profile in relation to developmental age. We stress the importance of an early assessment of learning abilities in individuals with IP without intellectual deficiencies to prevent the onset of any such deficit.

Disability Tourism Dollars in Western Australia Hotels

As the Western Australian hotel sector continues to look for new opportunities, people with disabilities are being acknowledged as a consumer group with considerable revenue earning potential. The authors report on findings from the initial stages of a three- part methodology aimed at investigating current awareness of and provision for the disability issue within the Western Australian hotel sector.

Health changes in Hispanic older adults in a Spanish arthritis self -management education program

Arthritis is the most common chronic condition affecting older people and is a major cause of limited activity. Arthritis education programs in English have demonstrated a positive impact on health but these programs have not reached the Hispanic communities where arthritis is the leading cause of disability. Minorities, such as Hispanics, have traditionally been reluctant to pursue self-help programs, and have been identified as an under-served population in terms of medical care. This study examined the effectiveness of one community health adult education program targeting Hispanic older adults with arthritis, the Spanish Arthritis Self Management Education Program (SASMEP), by evaluating changes in the participants' general health, pain, disability, self-efficacy, health perceptions, frequency of physician visits, and exercise. A pre and post control group experimental design and analyses of covariance were used to determine the pre and post differences in health status and health behaviors for a group participating in the SASMEP and a group who did not using gender and age as covariates. A repeated measures design was also used, and repeated measures analyses of variance and post hoc tests were done on health status and health behavior data collected pre, post and one-year post education to determine long-term differences. ^ Results indicated the participants' health status significantly improved in general health, significantly decreased in pain, and significantly decreased in arthritic disability immediately following the education. Self-efficacy and health perceptions increased for both groups but not significantly. The participants' health behaviors showed significantly fewer physician visits and significantly increased time spent performing stretching and strengthening exercise and time spent performing aerobic exercise. No group differences were found in the frequency of arthritis physician visits. ^ The improvements seen immediately after the SASMEP participation were not reflected in the post one-year scores. No significant differences were found for the participants' health status or health behaviors one year following the education. Health status and health behaviors did not return below baseline scores after one year suggesting the participants' health, although not improved, did not deteriorate. Therefore, the SASMEP education provided short-term health benefits for older Hispanic adults with arthritis, but not long-term health benefits. ^

The Multi-Faceted Experience of Empathy in Intellectual Disability Settings: An IPA Study

This research thesis explored the concept of empathy. The specific purpose was to further understand the idea of empathy in relation to the experience of male support workers who provide residential care to adults with intellectual disabilities (ID) and challenging behaviour. The thesis aimed to provide some insights into how support workers develop and extract meaning from their experiences of relationships with clients and the impact of this on their own self-care, namely, self-compassion. Since personal accounts of experience were required, a qualitative methodology was employed, Interpretative Phenomenological Analysis (IPA) (Smith, 2004). This methodology was selected as it allows for the exploration and interpretation of idiographic lived experience and meaning making. 8 experienced support workers were interviewed using a semi structured interview. Four superordinate themes emerged from the data. These included: 1. Making sense of the others inner world; 2. Processes that enhance empathic practice; 3. Tensions and conflicts, and 4. Management of distressing feelings. Differing accounts of interpreting the needs of clients were identified which helped participants understand, make sense of their interpersonal experience and participate in their role. These included utilising academic knowledge and senses, particularly sight and hearing, which were seemingly complemented by a level of reflective practice. Additionally, to make sense of the experience of a client, they appeared to put themselves in their position, suggesting a form of empathy. Participants appeared to engage in a process of reflection on their relationships with clients, which helped them think about what they had learned about the person’s needs, moreover, this process enabled them to identify some of their own responses and feelings. However, participants seemed to struggle to recognise the occurrence or impact of distressing emotional experience and to express their feelings, possibly in response to a deep sense of responsibility and fear of transferring emotional distress to others. This dilemma of holding two potentially conflicting views of experience seemed to inhibit self-compassion. Although not specifically testing theories of empathy, from the overall findings, it could be suggested that empathy may be a dynamic, transient process that is influenced by reflexivity, values and context. The context in which participants discussed their practice, and situated within their accounts, suggested a sense of confusion and uncertainty. Consequently, it is suggested this impacted on how participants understood and related to clients, and to themselves. There were some specific implications for Counselling Psychology practice, mostly concerning training and supervision. These included recommendations for staff training and supervision, systemic organisational intervention, policy development, recommendations for revisions to models of specialist care frameworks and clinical training.

Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11

Purpose Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 mutations. Methods Standard ophthalmic examination and investigation including visual acuity, refraction and fundus examination was carried out in all patients. Fundus autofluorescence imaging (FAF) was performed in three patients, and four patients underwent spectral domain optical coherence tomography (OCT). Flash electroretinography (ERG) was performed in seven patients, and five underwent additional pattern electroretinography (PERG). Results The patients ranged in age from 2 to 10 years. Most presented with visual acuity loss. Fundus examination revealed lacunae of chorioretinal atrophy. Pigmentary macular changes and optic disc pallor were present in three of seven patients. Fundus autofluorescence demonstrated hypoautofluorescence at the macula in two of three patients. The lacunae of chorioretinal atrophy were hypoautofluorescent. The OCT showed atrophic maculae in three of four patients. Follow-up in one patient showed no deterioration of the vision over a 9-year period. The lesions appear not to be progressive on the follow-up imaging. Electrophysiology showed generalized rod and cone dysfunction and severe macular dysfunction. Inner retinal dysfunction was evident in three of seven patients. Conclusions Patients with KIF11 mutations show a specific ocular phenotype with variable expressivity and intrafamilial variability. Macular atrophy and dysfunction have not been consistently documented before. The fundus lesions appear non-progressive. The findings assist in providing an accurate diagnosis and thus improving the management and follow-up of patients with this syndrome.

Barriers and enablers to safeguarding children and adults within a disability services context: Insights from an Australian Delphi Study

Research conducted in the 1990s revealed the tragic irony that exposure to the disability support system, and particularly to its institutional forms, was a major risk factor related to the neglect and abuse of children and adults with a disability. Subsequently, a range of policies have been introduced to minimize risk. However, recurring events of abuse and neglect in the disability services sector in high and middle income countries demonstrate that processes geared to safeguard children and adults with a disability from abuse and neglect remain insufficient. To establish the wider fabric of organizational factors that contribute to effective safeguarding practices within the Australian disability support sector, a modified online Delphi study was conducted, capturing the views of disability services staff and managers (n=249) regarding barriers and enablers to effective safeguarding. This study identified issues concerning organizational culture, management practice, workforce development, client capacity building and contextual factors. During Round Two of the Delphi, participants were asked to rate the categorized enabler statements according to importance on a 10-point Likert scale, to ascertain the degree of consensus. A total of 262 of the statements were regarded as important or very important. The Delphi result highlighted the considerable gap between the wider systemic and cultural processes that, in the eyes of disability services staff and management, contribute to good safeguarding practice and the safeguarding measures currently in place. The article calls for a holistic approach to safeguarding that addresses procedural issues and to the transformation of the wider systemic and cultural fabric of an organization.

Examples of individual supported living for adults with intellectual disability

BACKGROUND: This article provides a qualitative account of four models of support for adults with intellectual disability in individual supported living (ISL) arrangements. MATERIALS AND METHODS: Completion of the first 50 evaluations of 150 arrangements for the third phase of the ISL project provided the examples. RESULTS: Four approaches are described: living alone, co-residency, relationship and host family. Within each type, wide variations occur particularly based on security of tenure, formal and informal support and management variations. CONCLUSION: Fifty evaluations so far illustrated a wide range of approaches to ISL, providing evidence of the critical importance of the formal and informal support environment and reinforcing the contention that ISL is appropriate for people with high support needs.

A behavioural therapy approach to self-management: the Flinders Program

Chronic diseases, including diabetes, represent the most prevalent problem in healthcare today. They are the most common cause of disability and consume the largest part of health expenditures internationally. Most diabetes care is provided by people with diabetes and their family or supporters. Therefore, understanding how to enhance diabetes self-management is of primary importance in addressing this growing burden. The effective self-management of type 2 diabetes is closely linked to environmental factors and a person’s lifestyle. In this article, the authors describe the Flinders Chronic Condition Self-Management Program, which highlights the person’s perspective, and provide an example of its practical application in an Aboriginal population in South Australia.

Use of the My Health Record by people with communication disability in Australia: A review to inform the design and direction of future research

BACKGROUND: People with communication disability often struggle to convey their health information to multiple service providers and are at increased risk of adverse health outcomes related to the poor exchange of health information. OBJECTIVE: The purpose of this article was to (a) review the literature informing future research on the Australian personally controlled electronic health record, 'My Health Record' (MyHR), specifically to include people with communication disability and their family members or service providers, and (b) to propose a range of suitable methodologies that might be applied in research to inform training, policy and practice in relation to supporting people with communication disability and their representatives to engage in using MyHR. METHOD: The authors reviewed the literature and, with a cross-disciplinary perspective, considered ways to apply sociotechnical, health informatics, and inclusive methodologies to research on MyHR use by adults with communication disability. RESEARCH OUTCOMES: This article outlines a range of research methods suitable for investigating the use of MyHR by people who have communication disability associated with a range of acquired or lifelong health conditions, and their family members, and direct support workers. CONCLUSION: In planning the allocation of funds towards the health and well-being of adults with disabilities, both disability and health service providers must consider the supports needed for people with communication disability to use MyHR. There is an urgent need to focus research efforts on MyHR in populations with communication disability, who struggle to communicate their health information across multiple health and disability service providers. The design of studies and priorities for future research should be set in consultation with people with communication disability and their representatives.

Do cognitive, language, or physical impairments affect participation in a trial of self-management programs for stroke?

BACKGROUND: Research studies may have limited generalizability when survivors of stroke with physical, language, or cognitive impairments are excluded. AIMS: To assess whether presence of cognitive, language, or global impairments affects participation in self-management programs.

METHODS: Stroke survivors were recruited in South Australia from seven hospitals or via advertisements into a randomized controlled trial (1:1:1 ratio) of a Stroke Self-Management Program, the Stanford chronic condition self-management program, or standard care. Impairment status was measured using: Cognistat (cognition), Frenchay Aphasia assessment (language), modified Rankin Score (mRS; where score 3-5 = global disability).

PRIMARY OUTCOMES: participation (i.e. booked, accessed, and completed a program (defined as attending ≥ 50% of sessions)) and safety (i.e. adverse events). Outcomes were compared by impairment status. RESULTS: Among 315 people screened 143/149 eligible were randomized (median age 71 years; 41% male; with impairments: 62% cognitive, 34% language, 64% global disability). Participation did not differ by cognitive or language impairment status (cognitive 75%, no cognitive 68%, p = 0.54; language 78%, no language 69%, p = 0.42). However, participation did vary by global impairment status (global disability 61%, no disability 96%, p < 0.001). Participants with cognitive impairment experienced more adverse events (severe n = 9 versus no cognitive impairment n = 1).

CONCLUSION: Survivors of stroke with cognitive, language, or global impairments are able to participate in self-management programs and should be included in these types of research studies or programs. Reduced participation by those with global disability and the possibility of more adverse events in people with cognitive impairments needs to be considered.

Best practice principles for management of children with developmental coordination disorder (DCD) : results of a scoping review

Background. Developmental coordination disorder (DCD) is a prevalent health condition that is frequently unrecognized despite the substantial evidence that has accumulated regarding how it affects children’s health, education and skills.Most literature focuses on measurement of impairment and description of intervention approaches for individual children; little is known about the principles that should guide best practice and service delivery for children with DCD as a population. The purpose of this study was to identify these principles. Methods. A scoping review was used to ‘map’ the information available to inform intervention and service delivery. Scholarly and grey literature written in English was identified in six databases, using a combination of keywords (e.g. guidelines, management, models and DCD); a ‘snow-balling’ technique was also used in Canada and the UK to access clinical protocols used in publicly funded health care systems. Over 500 documents were screened: 31 met inclusion criteria as they outlined practice principles for children with DCD as a population. Data regarding best practices were independently extracted by two reviewers and then compared with achieve consistency and consensus. Results. Two over-arching themes emerged, with five principles: (1) Organizing services to efficiently meet the comprehensive needs of children (e.g. Increasing awareness of DCD and coordination; Implementing clearly defined pathways; Using a graduated/staged approach); (2) Working collaboratively to offer evidence-based services (e.g. Integration of child and family views; Evidence-based interventions fostering function, participation and prevention). Conclusion Numerous documents support each of the principles, reflecting agreement across studies about recommended organization of services.While these principles may apply to many populations of children with disabilities, this review highlights how essential these principles are in DCD. Researchers, managers, clinicians, community partners and families are encouraged to work together in designing, implementing and evaluating interventions that reflect these principles.

Feminist Disability Theory: Domestic Violence Against Women with a Disability

Women with a disability continue to experience social oppression and domestic violence as a consequence of gender and disability dimensions. Current explanations of domestic violence and disability inadequately explain several features that lead women who have a disability to experience violent situations. This article incorporates both disability and material feminist theory as an alternative explanation to the dominant approaches (psychological and sociological traditions) of conceptualising domestic violence. This paper is informed by a study which was concerned with examining the nature and perceptions of violence against women with a physical impairment. The emerging analytical framework integrating material feminist interpretations and disability theory provided a basis for exploring gender and disability dimensions. Insight was also provided by the women who identified as having a disability in the study and who explained domestic violence in terms of a gendered and disabling experience. The article argues that material feminist interpretations and disability theory, with their emphasis on gender relations, disablism and poverty, should be used as an alternative tool for exploring the nature and consequences of violence against women with a disability.