Description: The Neck Pain and Disability Scale (NPDS or NPAD) is a questionnaire aiming to quantify neck pain and disability.1 It is a patient-reported outcome measure for patients with any type of neck pain, of any duration, with or without injury.1,2 It consists of 20 items: three related to pain intensity, four related to emotion and cognition, four related to mobility of the neck, eight related to activity limitations and participation restrictions and one on medication.1,3 Patients respond to each item on a 0 to 5 visual analogue scale of 10 cm. There is also a nine-item short version.4 Feasibility: The NPDS is published and available online (https://mountainphysiotherapy.com.au/wp-content/uploads/2016/08/Neck-Pain-and-Disability-Scale.pdf).1 The NPDS is an easy to use questionnaire that can be completed within 5 to 8 minutes.1,5 There is no training needed to administer the instrument but its validity is compromised if the questionnaire must be read to the patient.2 Higher scores indicate higher severity (0 for normal functioning to 5 for the worst possible situation ‘your’ pain problem has caused you).2 The total score is the sum of scores on the 20 items (0 to 100).1 The maximum acceptable number of missing answers is three (15%).4 Two studies found a minimum important change of 10 points (sensitivity 0.93; specificity 0.83) and 11.5 points (sensibility 0.74; specificity 0.70), respectively.6,7 The NPDS is available in English, Dutch, Finnish, French, German, Italian, Hindi, Iranian, Korean, Turkish, Japanese and Thai. Reliability and validity: Two systematic reviews have evaluated the clinimetric properties of 11 of the translated versions.5,8 The Finnish, German and Italian translations were particularly recommended for use in clinical practice. Face validity was established and content validity was confirmed by an adequate reflection of all aspects of neck pain and disability.1,8 Regarding structural validity, the NPDS is a multidimensional scale, with moderate evidence that the NPDS has a three-factor structure (with explained variance ranging from 63 to 78%): neck dysfunction related to general activities; neck pain and neck-specific function; and cognitive-emotional-behavioural functioning. 4,5,9 A recent overview of four systematic reviews found moderate-quality evidence of high internal consistency (Cronbach’s alphas ranging from 0.86 to 0.93 for the various factors).10 Excellent test-retest reliability was found (ICC of 0.97); however, the studies were considered to be of low quality.3,10 Construct validity (hypotheses-testing) seems adequate when the NPDS is compared with the Neck Disability Index and the Global Assessment of Change with moderate to strong correlations (r = 0.52 to 0.86), based on limited moderate-quality studies.3,11,12 One systematic review reported good responsiveness to change in patients (r = 0.59).12
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Parental involvement is a crucial force in children’s development, learning and success at school and in life [1]. Participation, defined by the World Health Organization as ‘a person’s involvement in life situations’ [2] for children means involvement in everyday activities, such as recreational, leisure, school and household activities [3]. Several authors use the term social participation emphasising the importance of engagement in social situations [4, 5]. Children’s participation in daily life is vital for healthy development, social and physical competencies, social-emotional well-being, sense of meaning and purpose in life [6]. Through participation in different social contexts, children gather the knowledge and skills needed to interact, play, work, and live with other people [4, 7, 8]. Unfortunately, research shows that children with a physical disability are at risk of lower participation in everyday activities [9]; they participate less frequently in almost all activities compared with children without physical disabilities [10, 11], have fewer friends and often feel socially isolated [12-14]. Parents, in particular, positively influence the participation of their children with a physical disability at school, at home and in the community [15]. They undertake many actions to improve their child’s participation in daily life [15, 16]. However, little information is available about what parents of children with a physical disability do to enable their child’s participation, what they come across and what kind of needs they have. The overall aim of this thesis was to investigate parents’ actions, challenges, and needs while enhancing the participation of their school-aged child with a physical disability. In order to achieve this aim, two steps have been made. In the first step, the literature has been examined to explore the topic of this thesis (actions, challenges and needs) and to clarify definitions for the concepts of participation and social participation. Second, for the purposes of giving breadth and depth of understanding of the topic of this thesis a mixed methods approach using three different empirical research methods [17-19], was applied to gather information from parents regarding their actions, challenges and needs.
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BackgroundThe Uganda version of Pediatric Evaluation of Disability Inventory (PEDI-UG) was culturally adapted and validated from the PEDI-US, a tool used to evaluate the functional capability of children with or without disability aged 6 months to 7.5 years in the areas of self-care, mobility and social domains. A group of Ugandan occupational therapists with experience of using PEDI-UG participated in this study to explore the question: What do Ugandan occupational therapists say about the utility and value of the PEDI-UG for children with disabilities?MethodsA qualitative research design was chosen to explore the participants' viewpoints concerning the utility and value of the PEDI-UG for children with disabilities. Purposive sampling was used to recruit health professionals for the focus group discussions. Focus group discussions were carried out with 18 occupational therapists and nurses. Thematic analysis was performed to establish patterns and themes.ResultsSeveral challenges concerning the contextual use of PEDI-UG were reported. For example, PEDI-UG being culturally adapted in two languages (English and Luganda) makes it difficult for health professionals to use it for children whose caregivers are non-English or non-Luganda speakers. In addition, participants reported adapting the way they asked the assessment questions, struggling with how they interpreted the scores and observing the child's skills if required during PEDI-UG interviews with caregivers.ConclusionsThe findings of this study suggest that health professionals are challenged with the use of the PEDI-UG assessment in diverse cultural contexts and/or languages. These challenges are important considerations for the PEDI-UG translation in different Uganda cultural languages and training health professionals on the use and value of PEDI-UG for children with disabilities.
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Huntington’s disease (HD) and various spinocerebellar ataxias (SCA) are autosomal dominantly inherited neurodegenerative disorders caused by a CAG repeat expansion in the disease-related gene1. The impact of HD and SCA on families and individuals is enormous and far reaching, as patients typically display first symptoms during midlife. HD is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. SCAs are mainly characterized by ataxia but also other symptoms including cognitive deficits, similarly affecting quality of life and leading to disability. These problems worsen as the disease progresses and affected individuals are no longer able to work, drive, or care for themselves. It places an enormous burden on their family and caregivers, and patients will require intensive nursing home care when disease progresses, and lifespan is reduced. Although the clinical and pathological phenotypes are distinct for each CAG repeat expansion disorder, it is thought that similar molecular mechanisms underlie the effect of expanded CAG repeats in different genes. The predicted Age of Onset (AO) for both HD, SCA1 and SCA3 (and 5 other CAG-repeat diseases) is based on the polyQ expansion, but the CAG/polyQ determines the AO only for 50% (see figure below). A large variety on AO is observed, especially for the most common range between 40 and 50 repeats11,12. Large differences in onset, especially in the range 40-50 CAGs not only imply that current individual predictions for AO are imprecise (affecting important life decisions that patients need to make and also hampering assessment of potential onset-delaying intervention) but also do offer optimism that (patient-related) factors exist that can delay the onset of disease.To address both items, we need to generate a better model, based on patient-derived cells that generates parameters that not only mirror the CAG-repeat length dependency of these diseases, but that also better predicts inter-patient variations in disease susceptibility and effectiveness of interventions. Hereto, we will use a staggered project design as explained in 5.1, in which we first will determine which cellular and molecular determinants (referred to as landscapes) in isogenic iPSC models are associated with increased CAG repeat lengths using deep-learning algorithms (DLA) (WP1). Hereto, we will use a well characterized control cell line in which we modify the CAG repeat length in the endogenous ataxin-1, Ataxin-3 and Huntingtin gene from wildtype Q repeats to intermediate to adult onset and juvenile polyQ repeats. We will next expand the model with cells from the 3 (SCA1, SCA3, and HD) existing and new cohorts of early-onset, adult-onset and late-onset/intermediate repeat patients for which, besides accurate AO information, also clinical parameters (MRI scans, liquor markers etc) will be (made) available. This will be used for validation and to fine-tune the molecular landscapes (again using DLA) towards the best prediction of individual patient related clinical markers and AO (WP3). The same models and (most relevant) landscapes will also be used for evaluations of novel mutant protein lowering strategies as will emerge from WP4.This overall development process of landscape prediction is an iterative process that involves (a) data processing (WP5) (b) unsupervised data exploration and dimensionality reduction to find patterns in data and create “labels” for similarity and (c) development of data supervised Deep Learning (DL) models for landscape prediction based on the labels from previous step. Each iteration starts with data that is generated and deployed according to FAIR principles, and the developed deep learning system will be instrumental to connect these WPs. Insights in algorithm sensitivity from the predictive models will form the basis for discussion with field experts on the distinction and phenotypic consequences. While full development of accurate diagnostics might go beyond the timespan of the 5 year project, ideally our final landscapes can be used for new genetic counselling: when somebody is positive for the gene, can we use his/her cells, feed it into the generated cell-based model and better predict the AO and severity? While this will answer questions from clinicians and patient communities, it will also generate new ones, which is why we will study the ethical implications of such improved diagnostics in advance (WP6).
