Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32

PURPOSE The restricted genetic diversity and homogeneous molecular basis of Mendelian disorders in isolated founder populations have rarely been explored in epilepsy research. Our long-term goal is to explore the genetic basis of epilepsies in one such population, the Gypsies. The aim of this report is the clinical and genetic characterization of a Gypsy family with a partial epilepsy syndrome. METHODS Clinical information was collected using semistructured interviews with affected subjects and informants. At least one interictal electroencephalography (EEG) recording was performed for each patient and previous data obtained from records. Neuroimaging included structural magnetic resonance imaging (MRI). Linkage and haplotype analysis was performed using the Illumina IVb Linkage Panel, supplemented with highly informative microsatellites in linked regions and Affymetrix SNP 5.0 array data. RESULTS We observed an early-onset partial epilepsy syndrome with seizure semiology strongly suggestive of temporal lobe epilepsy (TLE), with mild intellectual deficit co-occurring in a large proportion of the patients. Psychiatric morbidity was common in the extended pedigree but did not cosegregate with epilepsy. Linkage analysis definitively excluded previously reported loci, and identified a novel locus on 5q31.3-q32 with an logarithm of the odds (LOD) score of 3 corresponding to the expected maximum in this family. DISCUSSION The syndrome can be classified as familial temporal lobe epilepsy (FTLE) or possibly a new syndrome with mild intellectual deficit. The linked 5q region does not contain any ion channel-encoding genes and is thus likely to contribute new knowledge about epilepsy pathogenesis. Identification of the mutation in this family and in additional patients will define the full phenotypic spectrum.

'My grandchild has a disability' : impact on grandparenting identity, roles and relationships

Being a grandparent is an important and valued role for many older adults, who often have strong views about the type of grandparent they will be and what they will teach their grandchild. When their grandchild has a disability, grandparents may have to significantly adjust their expectations and interactions. This research explores if and how having a grandchild with a disability influences grandparents’ sense of identity and enactment of the grandparent role. Using qualitative purposive sampling, semi-structured interviews were conducted with 22 grandparents of children with an intellectual and/or physical disability residing in Brisbane, Australia. A thematic analysis identified three key themes characterising grandparent’s views: formation of grandparenting identity, styles of grandparenting, and role enactment. The results highlight the critical role of grandparents when a child has a disability, illustrating that the grandparenting experience and role enactment may be universal with only the context and delivery varying.

Utility of corneal confocal microscopy for assessing mild diabetic neuropathy: baseline findings of the LANDMark study

Background:  For those in the field of managing diabetic complications, the accurate diagnosis and monitoring of diabetic peripheral neuropathy (DPN) continues to be a challenge. Assessment of sub-basal corneal nerve morphology has recently shown promise as a novel ophthalmic marker for the detection of DPN. Methods:  Two hundred and thirty-one individuals with diabetes with predominantly mild or no neuropathy and 61 controls underwent evaluation of diabetic neuropathy symptom score, neuropathy disability score, testing with 10 g monofilament, quantitative sensory testing (warm, cold, vibration detection) and nerve conduction studies. Corneal nerve fibre length, branch density and tortuosity were measured using corneal confocal microscopy. Differences in corneal nerve morphology between individuals with and without DPN and controls were investigated using analysis of variance and correlations were determined between corneal morphology and established tests of, and risk factors for, DPN. Results:  Corneal nerve fibre length was significantly reduced in diabetic individuals with mild DPN compared with both controls (p < 0.001) and diabetic individuals without DPN (p = 0.012). Corneal nerve branch density was significantly reduced in individuals with mild DPN compared with controls (p = 0.032). Corneal nerve fibre tortuosity did not show significant differences. Corneal nerve fibre length and corneal nerve branch density showed modest correlations to most measures of neuropathy, with the strongest correlations to nerve conduction study parameters (r = 0.15 to 0.25). Corneal nerve fibre tortuosity showed only a weak correlation to the vibration detection threshold. Corneal nerve fibre length was inversely correlated to glycated haemoglobin (r = -0.24) and duration of diabetes (r = -0.20). Conclusion:  Assessment of corneal nerve morphology is a non-invasive, rapid test capable of showing differences between individuals with and without DPN. Corneal nerve fibre length shows the strongest associations with other diagnostic tests of neuropathy and with established risk factors for neuropathy.

Measurement of environmental constructs in disability assessment instruments

The International Classification of Functioning, Disability and Health (ICF) assumes a biopsychosocial basis for disability and provides a framework for understanding how environmental factors contribute to the experience of disability. To determine the utility of prevalent disability assessment instruments, the authors examined the extent to which a range of such instruments addressed the impact of environmental factors on the individual and whether the instruments designed for different disability groups focused differentially on the environment. Items from 20 widely used disability assessment instruments were linked to the five chapters of the ICF environment component using standardized classification rules. Nineteen of the 20 instruments reviewed measured the environment to varying degrees. It was determined that environmental factors from the Natural Environment and Attitudes chapters were not well accommodated by the majority of instruments. Instruments developed for people with intellectual disabilities had the greatest environmental coverage. Only one instrument provided a relatively comprehensive and economical account of environmental barriers. The authors conclude that ICF classification of environmental factors provides a valuable resource for evaluating the environmental content of existing disability-related instruments, and that it may also provide a useful framework for revising instruments in use and for developing future disability assessment instruments.

Copyright protections and disability rights : turning the page to a new international paradigm

This paper argues that governments around the world need to take immediate coordinated action to reverse the 'book famine.' There are over 129 million book titles in the world, but persons with print disabilities can obtain less than 7% of these titles in formats that they can read. The situation is most acute in developing countries, where less than 1% of books are accessible. Two recent international developments – the United Nations Convention on the Rights of Persons with Disabilities (‘CRPD’) and the new Marrakesh Treaty to Facilitate Access to Published Works for Persons who are Blind, Visually Impaired, or otherwise Print Disabled (somewhat ironically nicknamed the ‘VIP Treaty’) – suggest that nation states are increasingly willing to take action to reverse the book famine. The Marrakesh Treaty promises to level out some of the disparity of access between people in developed and developing nations and remove the need for each jurisdiction to digitise a separate copy of each book. This is a remarkable advance, and suggests the beginnings of a possible paradigm shift in global copyright politicsmade all the more remarkable in the face of heated opposition by global copyright industry representatives. Now that the Marrakesh Treaty has been concluded, however, we argue that a substantial exercise of global political will is required to (a) invest the funds required to digitise existing books; and (b) avert any further harm by ensuring that books published in the future are made accessible upon their release.

Postdiagnosis personal growth in an Australian population of parents raising children with developmental disability

Background Parenting a child with a developmental disability presents a variety of long-term physical and emotional challenges. When exploring parent wellbeing, the disability field is dominated by a deficit model despite parents reportedly demonstrating coping and resilience. The current study is embedded in a salutogenic theory (Antonovsky, 1979) and explores the potential for parents of children diagnosed with a developmental disability to undergo positive changes. Method Participants were 6 fathers and 27 mothers who completed measures of distress and posttraumatic growth. Results Compared with a number of other Australian samples, participants reported significantly higher levels of posttraumatic growth. Reports of growth did not negate reports of distress. Results also indicated that constructs of distress and growth were independent. Conclusions The research has important implications for disability support services, reminding providers to be cognisant of the potential for growth, as well as distress, thereby permitting an atmosphere conducive to exploring such outcomes.

Gifted students with a reading disability : the impact of lived experience

Gifted students who have a reading disability have learning characteristics that set them apart from their peers. The ability to read impacts upon all areas of the formal curriculum in which print-based texts are common. Therefore, the full intellectual development of gifted students with a reading disability can be repressed because their access to learning opportunities is reduced. When the different learning needs caused by concomitant giftedness and reading disability are not met, it can have serious implications for both academic achievement and the social-emotional wellbeing of these students. In order to develop a deeper understanding of this vulnerable group of students, this study investigated the learning characteristics of gifted students with a reading disability. Furthermore, it investigated how the learning characteristics of these students impact upon their lived experiences. Since achievement and motivation have been shown to be closely linked to self-efficacy, self-efficacy theory underpinned the conceptual framework of the study. The study used a descriptive case study approach to document the lived experiences of gifted students with a reading disability. Nine participants aged between 11 and 18, who were formally identified as gifted with a reading disability, took part in the study. Data sources in the case study database included: cognitive assessments, such as WISC assessments, Stanford Binet 5, or the Raven's Standard Progressive Matrices; the WIAT II reading assessment; the Reader Self-Perception Scale; document reviews; parent and teacher checklists designed to gain information about the students' learning characteristics; and semi-structured interviews with students. The study showed that gifted students with a reading disability display a complex profile of learning strengths and weaknesses. As a result, they face a daily struggle of trying to reconcile the confusion of being able to complete some tasks to a high level, while struggling to read. The study sheds light on the myriad of issues faced by the students at school. It revealed that when the particular learning characteristics and needs of gifted students with a reading disability are recognised and met, these students can experience academic success, and avoid the serious social-emotional complications cited in previous studies. Indeed, rather than suffering from depression, disengagement from learning, and demotivation, these students were described as resilient, independent, determined, goal oriented and motivated to learn and persevere. Notably, the students in the study had developed effective coping strategies for dealing with the daily challenges they faced. These strategies are outlined in the thesis together with the advice students offered for helping other gifted students with a reading disability to succeed. Their advice is significant for all teachers who wish to nurture the potential of those students who face the challenge of being gifted with a reading disability, and for the parents of these students. This research advances knowledge pertaining to the theory of self-efficacy, and self-efficacy in reading specifically, by showing that although gifted students with a reading disability have low self-efficacy, the level is not the same for all aspects of reading. Furthermore, despite low self-efficacy in reading these students remained motivated. The study also enhances existing knowledge in the areas of gifted education and special education because it documents the lived experience of gifted students with a specific learning disability in reading from the students' perspectives. Based on a synthesis of the literature and research findings, an Inclusive Pathway Model is proposed that describes a framework to support gifted students with a reading disability so that they might achieve, and remain socially and emotionally well-adjusted. The study highlights the importance of clear identification protocols (such as the use of a range of assessment sources, discussions with students and parents, and an awareness of the characteristics of gifted students with a reading disability) and support mechanisms for assisting students (for example, differentiated reading instruction and the use of assistive technology).

Quantitative sensory measures distinguish office workers with varying levels of neck pain and disability

This study was undertaken to investigate any relationship between sensory features and neck pain in female office workers using quantitative sensory measures to better understand neck pain in this group. Office workers who used a visual display monitor for more than four hours per day with varying levels of neck pain and disability were eligible for inclusion. There were 85 participants categorized according to their scores on the neck disability index (NDI): 33 with no pain (NDI < 8); 38 with mild levels of pain and disability (NDI 9–29); 14 with moderate levels of pain (NDI ⩾ 30). A fourth group of women without neck pain (n = 22) who did not work formed the control group. Measures included: thermal pain thresholds over the posterior cervical spine; pressure pain thresholds over the posterior neck, trapezius, levator scapulae and tibialis anterior muscles, and the median nerve trunk; sensitivity to vibrotactile stimulus over areas of the hand innervated by the median, ulnar and radial nerves; sympathetic vasoconstrictor response. All tests were conducted bilaterally. ANCOVA models were used to determine group differences between the means for each sensory measure. Office workers with greater self-reported neck pain demonstrated hyperalgesia to thermal stimuli over the neck, hyperalgesia to pressure stimulation over several sites tested; hypoaesthesia to vibration stimulation but no changes in the sympathetic vasoconstrictor response. There is evidence of multiple peripheral nerve dysfunction with widespread sensitivity most likely due to altered central nociceptive processing initiated and sustained by nociceptive input from the periphery.

Associations between individual and workplace risk factors for self-reported neck pain and disability among female office workers

A cross-sectional survey of female office workers (n=333) was undertaken to determine the level of neck pain and disability (Neck Disability Index—NDI) and to explore the relationship between individual and workplace risk factors with the NDI score and the presence of pain. Workers reported nil (32%), mild (53%), moderate (14%) and severe (1%) neck pain. There were more risk factors associated with the NDI score than the presence of neck pain. The presence of neck pain was associated with a history of neck trauma (OR: 4.8), using a graduated lens (OR: 4.6), and negative affectivity (OR: 2.7) in the multiple regression model. Factors associated with higher NDI score were using the computer mouse for more than 6 h per day, higher negative affectivity, older age and an uncomfortable workstation. These results suggest that measuring the level of neck pain and disability rather than just the presence of neck pain provides more specific directives for the prevention and management of this disorder.

Functional impairments characterising mild, moderate and severe hallux valgus

Objective Hallux valgus has been linked to functional disability and increased falls risk, but mechanisms underpinning functional disability are unclear. This study investigated functional performance, muscle strength and plantar pressures in adults with mild, moderate, and severe HV compared to controls, while considering the influence of foot pain. Methods Sixty adults with hallux valgus (classified as mild, moderate and severe on dorsalplantar radiographs) and 30 controls participated. Measures included: hallux plantarflexion and abduction strength, walking performance, postural sway and forefoot plantar pressures. Multiple analysis of covariance and pairwise comparisons (p<0.05, Bonferroni adjustment) were used to investigate differences between groups, adjusting for age, sex, body mass index and foot pain. Results Hallux plantarflexion and abduction strength was significantly reduced in those with moderate (mean differences: plantarflexion -45.8N, abduction -12.3N, p<0.001) and severe hallux valgus (plantarflexion -50.1N, p<0.001; abduction -11.2N, p=0.01) compared to controls. A significant reduction in hallux peak pressure and pressure-time integral was evident in moderate (peak pressure -90.8kPa, p<0.001) and severe hallux valgus (peak pressure -106.2kPa, p<0.001) compared to controls. Those with severe hallux valgus also demonstrated increased mediolateral postural sway in single leg stance compared to controls (3.5cm, p=0.01). Conclusion Moderate to severe hallux valgus is associated with reduced hallux plantar pressures and strength measures, while relatively normal function compared to controls was found in those with mild deformity. Greater understanding of specific functional deficits associated with different stages of hallux valgus will help inform clinical management and future research.

Common values in assessing health outcomes from disease and injury: Disability weights measurement study for the Global Burden of Disease Study 2010

BACKGROUND Measurement of the global burden of disease with disability-adjusted life-years (DALYs) requires disability weights that quantify health losses for all non-fatal consequences of disease and injury. There has been extensive debate about a range of conceptual and methodological issues concerning the definition and measurement of these weights. Our primary objective was a comprehensive re-estimation of disability weights for the Global Burden of Disease Study 2010 through a large-scale empirical investigation in which judgments about health losses associated with many causes of disease and injury were elicited from the general public in diverse communities through a new, standardised approach. METHODS We surveyed respondents in two ways: household surveys of adults aged 18 years or older (face-to-face interviews in Bangladesh, Indonesia, Peru, and Tanzania; telephone interviews in the USA) between Oct 28, 2009, and June 23, 2010; and an open-access web-based survey between July 26, 2010, and May 16, 2011. The surveys used paired comparison questions, in which respondents considered two hypothetical individuals with different, randomly selected health states and indicated which person they regarded as healthier. The web survey added questions about population health equivalence, which compared the overall health benefits of different life-saving or disease-prevention programmes. We analysed paired comparison responses with probit regression analysis on all 220 unique states in the study. We used results from the population health equivalence responses to anchor the results from the paired comparisons on the disability weight scale from 0 (implying no loss of health) to 1 (implying a health loss equivalent to death). Additionally, we compared new disability weights with those used in WHO's most recent update of the Global Burden of Disease Study for 2004. FINDINGS 13,902 individuals participated in household surveys and 16,328 in the web survey. Analysis of paired comparison responses indicated a high degree of consistency across surveys: correlations between individual survey results and results from analysis of the pooled dataset were 0·9 or higher in all surveys except in Bangladesh (r=0·75). Most of the 220 disability weights were located on the mild end of the severity scale, with 58 (26%) having weights below 0·05. Five (11%) states had weights below 0·01, such as mild anaemia, mild hearing or vision loss, and secondary infertility. The health states with the highest disability weights were acute schizophrenia (0·76) and severe multiple sclerosis (0·71). We identified a broad pattern of agreement between the old and new weights (r=0·70), particularly in the moderate-to-severe range. However, in the mild range below 0·2, many states had significantly lower weights in our study than previously. INTERPRETATION This study represents the most extensive empirical effort as yet to measure disability weights. By contrast with the popular hypothesis that disability assessments vary widely across samples with different cultural environments, we have reported strong evidence of highly consistent results.

The doctrine of necessity and the detention and restraint of people with intellectual impairment: Is there any justification?

In Australia, the legal basis for the detention and restraint of people with intellectual impairment is ad hoc and unclear. There is no comprehensive legal framework that authorises and regulates the detention of, for example, older people with dementia in locked wards or in residential aged care, people with disability in residential services or people with acquired brain injury in hospital and rehabilitation services. This paper focuses on whether the common law doctrine of necessity (or its statutory equivalents) should have a role in permitting the detention and restraint of people with disabilities. Traditionally, the defence of necessity has been recognised as an excuse, where the defendant, faced by a situation of imminent peril, is excused from the criminal or civil liability because of the extraordinary circumstances they find themselves in. In the United Kingdom, however, in In re F (Mental Patient: Sterilisation) and R v Bournewood Community and Mental Health NHS Trust, ex parte L, the House of Lords broadened the defence so that it operated as a justification for treatment, detention and restraint outside of the emergency context. This paper outlines the distinction between necessity as an excuse and as a defence, and identifies a number of concerns with the latter formulation: problems of democracy, integrity, obedience, objectivity and safeguards. Australian courts are urged to reject the United Kingdom approach and retain an excuse-based defence, as the risks of permitting the essentially utilitarian model of necessity as a justification are too great.

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.