Search results for: disability

Authors: Javiera Espinosa, Patricia López, Noelia Santos, Nadia Loro, Esther Moraleda

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In recent years, there has been a notable increase in the number of investigations that establish that Down Syndrome and Autism Spectrum Disorder are diagnoses that can coexist together. However, there are also many studies that consider that both diagnoses present neuropsychological, linguistic and adaptive characteristics with a totally different profile. The objective of this research is to question whether there really can be a profile that encompasses both disorders or if they can be incompatible with each other. To this end, a review of the scientific literature of recent years has been carried out. The results indicate that the two lines collect opposite approaches. On the one hand, there is research that supports the increase in comorbidity between Down Syndrome and Autism Spectrum Disorder, and on the other hand, many investigations show a totally different general development profile between the two. The discussion focuses on discussing both lines of work and on proposing future lines of research in this regard.

Keywords: disability, language, speech, down syndrome

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Authors: Nirav Vaghela, Sanket Parekh

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Objective: Musculoskeletal disorders (MSD) represent one of the most common and important occupational health problems in working populations, being responsible for a substantial impact on quality of life and incurring a major economic burden in compensation cost and lost wages. School teachers represent an occupational group among which there appears to be a high prevalence of MSD. Design: Three hundred and fourteen teachers were enrolled in this study. Teachers were interview with the Modified Nordic Questionnaire. Result: In current study total 314 participants have been recruited in that minimum age of participants is 22 and maximum age is 59 with mean 40.5± 9.88. Total prevalence of the MSD is 71.95% among the teachers. In that Female were more affected with 72% than the males with 28%. Conclusion: The teachers here in reported a high prevalence of musculoskeletal pain in the shoulder, knee and back.

Keywords: repetitive stress injury, pain, occupational hazards, disability, abneetism, physical health, quality of life

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Authors: Anabel Moriña

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In recent years, advances have been made in disability policy at Spanish universities, especially in terms of creating more inclusive learning environments. Nevertheless, while efforts to foster inclusion at the tertiary level -and the growing number of students with disabilities at university- are clear signs of progress, serious barriers to full participation in learning still exist. The research shows that university responses to diversity tend to be reactive, not proactive; as a result, higher education (HE) environments can be especially disabling. It has been demonstrated that the performance of students with disabilities is closely linked to the good will of university faculty and staff. Lectures are key players when it comes to helping or hindering students throughout the teaching/learning process. This paper presents an analysis of how lecturers respond to students with disabilities, the initial question being: do lecturers aid or hinder students? The general aim is to analyse-by listen to the students themselves-lecturers barriers and support identified as affecting academic performance and overall perception of the higher education (HE) experience. Biographical-narrative methodology was employed. This research analysed the results differentiating by fields of knowledge. The research was conducted in two phases: discussion groups along with individual oral/written interviews were set up with 44 students with disabilities and mini life histories were completed for 16 students who participated in the first stage. The study group consisted of students with disabilities enrolled during three academic years. The results of this paper noted that participating students identified many more barriers than bridges when speaking about the role lecturers play in their learning experience. Findings are grouped into several categories: Faculty attitudes when “dealing with” students with disabilities, teaching methodologies, curricular adaptations, and faculty training in working with students. Faculty does not always display appropriate attitudes towards students with disabilities. Study participants speak of them turning their backs on their problems-or behaving in an awkward manner. In many cases, it seems lecturers feel that curricular adaptations of any kind are a form of favouritism. Positive attitudes, however, often depend almost entirely on the good will of faculty and-although well received by students-are hard to come by. As the participants themselves suggest, this study confirms that good teaching practices not only benefit students with disabilities but the student body as a whole. In this sense, inclusive curricula provide new opportunities for all students. A general coincidence has been the lack of training on behalf of lecturers to adequately attend disabled students, and the need to cover this shortage. This can become a primary barrier and is more often due to deficient faculty training than to inappropriate attitudes on the part of lecturers. In conclusion, based on this research we can conclude that more barriers than bridges exist. That said, students do report receiving a good deal of support from their lecturers-although almost exclusively in a spirit of good will; when lecturers do help, however, it tends to have a very positive impact on students' academic performance.

Keywords: barriers, disability, higher education, lecturers

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Authors: Kaycee Bills

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Past studies have indicated students who have disabilities are at a higher risk of experiencing bullying victimization in comparison to other student groups. Extracurricular activity participation has been shown to establish better social outcomes for students. These positive social outcomes indirectly decrease the number of times a student is bullied. The following study uses the National Crime Victimization Survey – School Crime Supplement (NCVS/SCS) to analyze the bullying concurrences experienced among students, with disabilities being a focal variable. To explore the relationship between extracurricular involvement and bullying occurrence rates, this study employs a binary logistic regression to determine if athletic and non-athletic extracurricular activities have an impact on the number of times a student with disabilities experiences bullying. Implications for future social welfare practice and research are discussed.

Keywords: disability, bullying, extracurricular activities, athletics

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Authors: Anna Mirczak

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Introduction: In connection with the aging of the population and the increase in the number of people with chronic illnesses, the priority objective for public health has become not only lengthening life, but also improving quality of life in older persons, as well as maintenance of their relative independence and active participation in social life. The most important determinant of a person’s quality of life is health. According to the literature, older people with chronic illness who live in rural settings are at greater risk for poor outcomes than their urban counterparts. Furthermore research characterizes the rural elderly as having a higher incidence of sickness, dysfunction, disability, restricted mobility, and acute and chronic conditions than their urban citizens. It is dictated by the overlapping certain specific socio-economic factors typical for rural areas which include: social and geography exclusion, limited access to health care centers, and low socioeconomic status. Aim of the study: The objective of this study was to recognize health status and needs of older people living in selected rural areas in Poland and evaluate the impacts of working in the farm on their health status. Material and methods: The study was performed personally, using interviews based on the structural questionnaires, during the period from March 2011 to October 2012. The group of respondents consisted 203 people aged 65 years and over living in selected rural areas in Poland. The analysis of collected research material was performed using the statistical package SPSS 19 for Windows. The level of significance for the tested the hypotheses assumed value of 0.05. Results: The mean age of participants was 75,5 years (SD=5,7) range from 65 to 94 years. Most of the interviewees had children (89.2%) and grandchildren (83.7) and lived mainly with family members (75.9%) mostly in double (46.8%) and triple (20.8%) household. The majority of respondents (71,9%) were physical working on the farm. At the time of interview, each of the respondents reported that they had been diagnosed with at least one chronic diseases by their GP. The most common were: hypertension (67,5%), osteoarthritis (44,8%), atherosclerosis (43,3%), cataract (40,4%), arrhythmia (28,6%), diabetes mellitus (19,7%) and stomach or duodenum ulcer diseases (17,2%).The number of diseases occurring of the sample was dependent on gender and age. Significant associations were observed between working on the farm and frequency of occurrence cardiovascular diseases, the gastrointestinal tract dysfunction and sensory disorders. Conclusions: The most common causes of disability among older citizens were: chronic diseases, malnutrition and complaints about access to health services (especially to cardiologist and an ophthalmologist). Health care access and health status are a particular concern in rural areas where the population is older, has lower education and income levels, and is more likely to be living in medically underserved areas than is the case in urban areas.

Keywords: ageing, health status, older people, rural

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Authors: Christine L. Cole

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Adolescents with Autism Spectrum Disorders (ASD) often experience social-communication difficulties that negatively impact their social interactions with typical peers. However, unlike other age and disability groups, there is little intervention research to inform best practice for these students. One evidence-based strategy for younger students with ASD is peer-mediated intervention (PMI). PMI may be particularly promising for use with adolescents, as peers are readily available and natural experts for encouraging authentic high school conversations. This paper provides a review of previous research that evaluated the use of PMI to improve the social-communication skills of students with ASD. Specific intervention features associated with positive student outcomes are identified and recommendations for future research are provided. Adolescents with ASD are targeted due to the critical importance of social conversation at the high school level.

Keywords: autism, peer-mediation, social communication, adolescents

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Authors: Christopher Thornton, Niina Kolehmainen, Kianoush Nazarpour

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Background: Accelerometers are widely used to measure physical activity behavior, including in children. The traditional method for processing acceleration data uses cut points, relying on calibration studies that relate the quantity of acceleration to energy expenditure. As these relationships do not generalise across diverse populations, they must be parametrised for each subpopulation, including different age groups, which is costly and makes studies across diverse populations difficult. A data-driven approach that allows physical activity intensity states to emerge from the data under study without relying on parameters derived from external populations offers a new perspective on this problem and potentially improved results. We evaluated the data-driven approach in a diverse population with a range of rapidly evolving physical and mental capabilities, namely very young children (9-38 months old), where this new approach may be particularly appropriate. Methods: We applied an unsupervised machine learning approach (a hidden semi-Markov model - HSMM) to segment and cluster the accelerometer data recorded from 275 children with a diverse range of physical and cognitive abilities. The HSMM was configured to identify a maximum of six physical activity intensity states and the output of the model was the time spent by each child in each of the states. For comparison, we also processed the accelerometer data using published cut points with available thresholds for the population. This provided us with time estimates for each child’s sedentary (SED), light physical activity (LPA), and moderate-to-vigorous physical activity (MVPA). Data on the children’s physical and cognitive abilities were collected using the Paediatric Evaluation of Disability Inventory (PEDI-CAT). Results: The HSMM identified two inactive states (INS, comparable to SED), two lightly active long duration states (LAS, comparable to LPA), and two short-duration high-intensity states (HIS, comparable to MVPA). Overall, the children spent on average 237/392 minutes per day in INS/SED, 211/129 minutes per day in LAS/LPA, and 178/168 minutes in HIS/MVPA. We found that INS overlapped with 53% of SED, LAS overlapped with 37% of LPA and HIS overlapped with 60% of MVPA. We also looked at the correlation between the time spent by a child in either HIS or MVPA and their physical and cognitive abilities. We found that HIS was more strongly correlated with physical mobility (R²HIS =0.5, R²MVPA= 0.28), cognitive ability (R²HIS =0.31, R²MVPA= 0.15), and age (R²HIS =0.15, R²MVPA= 0.09), indicating increased sensitivity to key attributes associated with a child’s mobility. Conclusion: An unsupervised machine learning technique can segment and cluster accelerometer data according to the intensity of movement at a given time. It provides a potentially more sensitive, appropriate, and cost-effective approach to analysing physical activity behavior in diverse populations, compared to the current cut points approach. This, in turn, supports research that is more inclusive across diverse populations.

Keywords: physical activity, machine learning, under 5s, disability, accelerometer

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Authors: Chung-Yuan Wang, Min Hsu, Bo-Ya Juan, Hsiv Ching Lin, Hsveh Min Lin, Hsiu-Fang Yeh

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The success of Taiwan's National Health Insurance (NHI) system attracts widespread praise from the international society. However, the availability of medical care in a emote area is limited. Without the convenient public transportation system and mature social welfare policy, these people are difficult to regain their health and prevent disability. Preterm children have more risk to get development delay. Preterm children in a remote area have the human right to get rehabilitation resources as those in the city area. Therefore, the aim of this study was to show the importance of development screening to preterm children in a remote area and a tract the government to notice the issue. In Pingtung, children who are suspected development delay would be suggested to take a skillful screening evaluation in our hospital. Those preterm children (within 1-year-old) visited our pediatric clinic would also be referred to take the development evaluation. After the physiatrist’s systemic evaluation, the subjects would be scheduled to take the development evaluation. Gross motor, fine motor, speech comprehension/expression and mental study were included. The evaluation was in-charged by a physical therapist, occupational therapy, speech therapist and pediatric psychologist. The tools were Peabody developmental scale, Bayley Scales of Infant and Toddler Development (Bayley-III) and Wechsler Preschool & Primary Scale of Intelligence-Revised (WPPSI-R). In 2013, 459 children received the service in our hospital. Among these children, fifty-seven were noted with preterm baby history (gestation within 37 weeks). Thirty-six of these preterm children, who had never receive development evaluation, were included in this study. Thirty-six subjects (twenty-six male and ten female) were included. Nineteen subjects were found development delay. Six subjects were found suspected development delay. In gross motor, six subjects were development delay and eight were suspected development delay. In fine motor, five subjects were development delay and three were suspected development delay. In speech, sixteen subjects were development delay and six were suspected development delay. In our study, through the provision of development evaluation service, 72.2% preterm baby were found their development delay or suspected delay. They need further early intervention rehabilitation service. We made their parents realize that when development delay was recognized at the early stage, they are often reversible. No only the patients but also their families were improved their health status. The number of the subjects was limited in our study. Further study might be needed. Compared with 770 physical therapist (PT) and 370 occupational therapy (OT) in Taipei, there are only 108 PT and 54 OT in Pingtung. Further, there are much fewer therapists working on the field of pediatric rehabilitation. Living healthy is a human's right, no matter where does he live. For those development delay children in remote area, particularly preterm children, early detection, and early intervention rehabilitation service could play an important role in decreasing their disability and improving their quality of life. Through this study, we suggest the government to add more national resources on the development evaluation to preterm children in a remote area.

Keywords: development, early intervention, preterm children, rehabilitation

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Authors: Thomas Chong, Irene Victor

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This paper discusses the history and plausible future of assistive technology and what it means for students with disabilities in Singapore, a country known for its high quality of education in the world. Over more than a century, students with disabilities have benefitted from relatively low-tech assistive technology (like eye-glasses, Braille, magnifiers and wheelchairs) to high-tech assistive technology including electronic mobility switches, alternative keyboards, computer-screen enlargers, text-to-speech readers, electronic sign-language dictionaries and signing avatars for individuals with hearing impairments. Driven by legislation, the use of assistive technology in many countries is becoming so ubiquitous that more and more students with disabilities are able to perform as well as if not better than their counterparts. Yet in many other learning environments where assistive technology is not affordable or mandated, the learning gaps can be quite significant. Without stronger legislation, Singapore may still have a long way to go in levelling the playing field for its students with disabilities.

Keywords: assistive technology, students with disabilities, disability laws in Singapore, inclusiveness

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Authors: Pavlina Capkova, Josef Srovnal, Vera Becvarova, Marie Trkova, Zuzana Capkova, Andrea Stefekova, Vaclava Curtisova, Alena Santava, Sarka Vejvalkova, Katerina Adamova, Radek Vodicka

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ASDs are heterogeneous and complex developmental diseases with a significant genetic background. Recurrent CNVs are known to be a frequent cause of ASD. These CNVs can have, however, a variable expressivity which results in a spectrum of phenotypes from asymptomatic to ID/DD/ASD. ASD is associated with ID in ~75% individuals. Various platforms are used to detect pathogenic mutations in the genome of these patients. The performed study is focused on a determination of the frequency of pathogenic mutations in a group of ASD patients and a group of ID/DD patients using various strategies along with a comparison of their detection rate. The possible role of the origin of these mutations in aetiology of ASD was assessed. The study included 35 individuals with ASD and 68 individuals with ID/DD (64 males and 39 females in total), who underwent rigorous genetic, neurological and psychological examinations. Screening for pathogenic mutations involved karyotyping, screening for FMR1 mutations and for metabolic disorders, a targeted MLPA test with probe mixes Telomeres 3 and 5, Microdeletion 1 and 2, Autism 1, MRX and a chromosomal microarray analysis (CMA) (Illumina or Affymetrix). Chromosomal aberrations were revealed in 7 (1 in the ASD group) individuals by karyotyping. FMR1 mutations were discovered in 3 (1 in the ASD group) individuals. The detection rate of pathogenic mutations in ASD patients with a normal karyotype was 15.15% by MLPA and CMA. The frequencies of the pathogenic mutations were 25.0% by MLPA and 35.0% by CMA in ID/DD patients with a normal karyotype. CNVs inherited from asymptomatic parents were more abundant than de novo changes in ASD patients (11.43% vs. 5.71%) in contrast to the ID/DD group where de novo mutations prevailed over inherited ones (26.47% vs. 16.18%). ASD patients shared more frequently their mutations with their fathers than patients from ID/DD group (8.57% vs. 1.47%). Maternally inherited mutations predominated in the ID/DD group in comparison with the ASD group (14.7% vs. 2.86 %). CNVs of an unknown significance were found in 10 patients by CMA and in 3 patients by MLPA. Although the detection rate is the highest when using CMA, recurrent CNVs can be easily detected by MLPA. CMA proved to be more efficient in the ID/DD group where a larger spectrum of rare pathogenic CNVs was revealed. This study determined that maternally inherited highly penetrant mutations and de novo mutations more often resulted in ID/DD without ASD in patients. The paternally inherited mutations could be, however, a source of the greater variability in the genome of the ASD patients and contribute to the polygenic character of the inheritance of ASD. As the number of the subjects in the group is limited, a larger cohort is needed to confirm this conclusion. Inherited CNVs have a role in aetiology of ASD possibly in combination with additional genetic factors - the mutations elsewhere in the genome. The identification of these interactions constitutes a challenge for the future. Supported by MH CZ – DRO (FNOl, 00098892), IGA UP LF_2016_010, TACR TE02000058 and NPU LO1304.

Keywords: autistic spectrum disorders, copy number variant, chromosomal microarray, intellectual disability, karyotyping, MLPA, multiplex ligation-dependent probe amplification

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Authors: Jenn Gallup, Onur Kocaoz, Onder Islek

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In their pursuit of postsecondary transitions, individuals with disabilities tend to experience, academic, behavioral, and emotional challenges to a greater extent than their typically developing peers. These challenges result in lower rates of graduation, employment, independent living, and participation in college than their peers without disabilities. The lack of friendships and support systems has had a negative impact on those with a disability transitioning to postsecondary settings to include, employment, independent living, and university settings. Establishing friendships and support systems early on is an indicator of potential success and persistence in postsecondary education, employment, and independent living for typically developing college students. It is evident that a deficit in friendships and supports is a key deficit also for individuals with disabilities. To address the specific needs of this group, a mentor program was developed for a transition program held at the university for youth aged 18-21. Pre-service teachers enrolled in the special education program engaged with youth in the transition program in a variety of activities on campus. The mentorship program had two purposes: to assist young adults with disabilities who were transitioning to a workforce setting to help increase social skills, self-advocacy, supports and friendships, and confidence; and to give their peers without disabilities who were enrolled in a secondary special education course as a pre-service teacher the experience of interacting with and forming friendships with peers who had a disability for the purposes of career development. Additionally, according to researchers mobile technology has created a virtual world of equality and opportunity for a large segment of the population that was once marginalized due to physical and cognitive impairments. All of the participants had access to smart phones; therefore, technology was explored during this study to determine if it could be used as a compensatory tool to allow the young adults with disabilities to do things that otherwise would have been difficult because of their disabilities. Additionally, all participants were asked to incorporate technology such as smart phones to communicate beyond the activities, collaborate using virtual platform games which would support and promote social skills, soft-skills, socialization, and relationships. The findings of this study confirmed that a peer mentorship program that harnessed the power of technology supported outcomes specific to young adults with and without disabilities. Mobile technology and virtual game-based platforms, were identified as a significant contributor to personal, academic, and career growth for both groups. The technology encouraged friendships, provided an avenue for rich social interactions, and increased soft-skills. Results will be shared along with the development of the program and potential implications to the field.

Keywords: career outcomes, mentorship, soft-skills, technology, transition

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Authors: Alaoui Hamza, Moutacalli Mohamed Tarik, Chebak Ahmed

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The number of people suffering from hemiplegia is growing each year. This lower limb disability affects all the aspects of their lives by taking away their autonomy. This implicates their close relatives, as well as the health system to provide the necessary care they need. The integration of exoskeletons in the medical field became a promising solution to resolve this issue. This paper presents an exoskeleton designed to help hemiplegic people get back the sensation and ability of normal walking. For this purpose, three step models have been created. The first step allows a simple forward movement of the leg. The second method is designed to overcome some obstacles in the patient path, and finally the third step model gives the patient total control over the device. Each of the control methods was designed to offer a solution to the challenges that the patients may face during the walking process.

Keywords: ability of normal walking, exoskeleton, hemiplegic patients, lower limb motion- mechatronics

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Authors: Cigdem Fidan

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Deaf students in Turkey generally do not have access to foreign language classes. However, the knowledge of foreign languages, especially English, is important for them to access knowledge and other opportunities in the globalizing world. In addition, learning any language including foreign languages is a basic linguistic human right. This study applies critical discourse analysis to examine language ideologies, perceptions of deafness and current language and education policies used for deaf education in Turkey. The findings show that representation of deafness as a disability in policy documents, ignorance the role of sign languages in education and lack of policies that support foreign language education for the deaf may result in inaccessibility of foreign language education for deaf students in Turkey. The paper concludes with recommendations for policymakers, practitioners, and advocates for the deaf.

Keywords: deaf learners, English as a foreign language, language policy, linguistic human rights

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Authors: Michael Rahme

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Over the past decade, there is an overwhelming consensus spanning across academia, government commissions, and civil societies that concede that individuals with disabilities (IWDs), particularly those with intellectual differences, are a demographic most ‘vulnerable’ to experiences of sexual violence. From this global accord, numerous policies have sprouted in the protection of this ‘pregnable’ sector of society, primarily framed around liberal obligations of stewardship over the ‘defenceless.’ As such, these initiatives mainly target post-incident or victim-based factors of sexual violence, which is apparent in proposals for more inclusive sexual education and accessible contact lines for IWDs. Yet despite the necessity of these initiatives, sexual incidents among this demographic persist and, in nations such as Australia, continue to rise. Culture of Violence theory reveals that such discrepancies in theory and practice stem from societal structures that frame individuals as ‘vulnerable’, ‘impregnable’, or ‘defenceless’ because of their disability, thus propagating their own likelihood of abuse. These structures, as embodied by the Australian experience, allow these sexual violences to endure through cultural ideologies that place the IWDs ‘failures’ at fault while sidelining the institutions that permit this abuse. Such is representative of the initiatives of preventative organizations like People with Disabilities Australia, which have singularly strengthened victim protection networks, despite abuse continuing to rise dramatically among individuals with intellectual disabilities alone. Yet regardless of this rise, screenings of families and workers remain inadequate and practically untouched, a reflection of a tremendous societal warp in understanding surrounding the lived experiences of IWDs. This theory is also representative of broader literature, where the study of the perpetrators of disability rights, particularly sexual rights, is almost unapparent in a field that is already seldom studied. Therefore, placing power on the abuser via stripping that of the victims. As such, the Culture of Violence theory (CVT) sheds light on the institutions that allow these perpetrators to prosper. This paper, taking a CVT approach, aims to dissipate this discrepancy in the Australian experience by way of a qualitative analysis of all available court proceedings and tribunals between 2020-2022. Through an analysis of the perpetrator, their relation to the IWD, and the motives for their actions granted by court and tribunal transcripts and the psychological, and behavioural reports, among other material, that have been presented and consulted during these proceedings. All of which would be made available under the 1982 Freedom of Information Act. The findings from this study, through the incorporation of CVT, determine the institutions in which these abusers function and the ideologies which motivate such behaviour; while being conscious of the issue of re-traumatization and language barriers of the abusees. Henceforth, this study aims to be a potential policy guide on strengthening support institutions that provide IWDs with their basic rights. In turn, undermining sexual violence among individuals with intellectual disabilities at its roots.

Keywords: criminal profiling, intellectual disabilities, prevention, sexual violence

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Authors: Andrew Anis Fakhrey Mosaad

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This Musculoskeletal (MSK) conditions are a major contributing factor in disability. This becomes more challenging as the world population is witnessing an increase in the geriatric population. Various treatment strategies are being researched to provide the most effective and non-invasive approach. To date, low-level laser therapy (LLLT) is one of the emerging modalities to treat different musculoskeletal conditions in physical therapy practice. Physical therapy practice uses different modalities to control pain and inflammation. LLLT has been under research for the last two decades and has shown varying results. This literature review focuses on the effectiveness of LLLT in different musculoskeletal conditions. Using search engines of PubMed and Google Scholar, a number of articles have been reviewed based on the inclusion and exclusion criteria. LLLT shows promising results in treating different musculoskeletal conditions. However, clinicians need to ensure to follow the recommended dosage parameters for specific musculoskeletal conditions.

Keywords: musculoskeletal conditions, low level laser therapy, ultrasound, wavelength, pain and inflammation

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Authors: Reham Khalaf-Nazzal, Imad Dweikat, Paula Gimenez, Iker Oyenarte, Alfonso Martinez-Cruz, Domonik Muller

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Metal cation transport mediator (CNNM) gene family comprises 4 isoforms that are expressed in various human tissues. Structurally, CNNMs are complex proteins that contain an extracellular N-terminal domain preceding a DUF21 transmembrane domain, a ‘Bateman module’ and a C-terminal cNMP-binding domain. Mutations in CNNM2 cause familial dominant hypomagnesaemia. Growing evidence highlights the role of CNNM2 in neurodevelopment. Mutations in CNNM2 have been implicated in epilepsy, intellectual disability, schizophrenia, and others. In the present study, we aim to elucidate the function of CNNM2 in the developing brain. Thus, we present the genetic origin of symptoms in two family cohorts. In the first family, three siblings of a consanguineous Palestinian family in which parents are first cousins, and consanguinity ran over several generations, presented a varying degree of intellectual disability, cone-rod dystrophy, and autism spectrum disorder. Exome sequencing and segregation analysis revealed the presence of homozygous pathogenic mutation in the CNNM2 gene, the parents were heterozygous for that gene mutation. Magnesium blood levels were normal in the three children and their parents in several measurements. They had no symptoms of hypomagnesemia. The CNNM2 mutation in this family was found to locate in the CBS1 domain of the CNNM2 protein. The crystal structure of the mutated CNNM2 protein was not significantly different from the wild-type protein, and the binding of AMP or MgATP was not dramatically affected. This suggests that the CBS1 domain could be involved in pure neurodevelopmental functions independent of its magnesium-handling role, and this mutation could have affected a protein partner binding or other functions in this protein. In the second family, another autosomal dominant CNNM2 mutation was found to run in a large family with multiple individuals over three generations. All affected family members had hypomagnesemia and hypermagnesuria. Oral supplementation of magnesium did not increase the levels of magnesium in serum significantly. Some affected members of this family have defects in fine motor skills such as dyslexia and dyslalia. The detected mutation is located in the N-terminal part, which contains a signal peptide thought to be involved in the sorting and routing of the protein. In this project, we describe heterogenous clinical phenotypes related to CNNM2 mutations and protein functions. In the first family, and up to the authors’ knowledge, we report for the first time the involvement of CNNM2 in retinal photoreceptor development and function. In addition, we report the presence of a neurophenotype independent of magnesium status related to the CNNM2 protein mutation. Taking into account the different modes of inheritance and the different positions of the mutations within CNNM2 and its different structural and functional domains, it is likely that CNNM2 might be involved in a wide spectrum of neuropsychiatric comorbidities with considerable varying phenotypes.

Keywords: magnesium transport, autosomal recessive, autism, neurodevelopment, CBS domain

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Authors: Lamia Bouzgarrou, Amira Omrane, Leila Mrabet, Taoufik Khalfallah

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Background and aims: School accidents are one of the leading causes of morbidity and mortality among pupils and students. Indeed, they may induce an elevated number of lost school days, heavy emotional and physical disabilities, and financial costs on the victims and their families. This study aims to evaluate the annual incidence of school accidents in the central Tunisian governorate of Mahdia and to identify the epidemiological profile of victims and risk factors of these accidents. Methods: A retrospective study was conducted over the period of 5 school years, focusing on school accidents that occurred in public educational institutions (primary, basic, secondary and university) in the governorate of Mahdia (area = 2 966 km² and number of inhabitants in 2014 = 410 812). All accidents declared near the only official insurance of this type of injuries (MASU: Mutual School and University Accidents), and initially taken in charge at the University Hospital of Mahdia were included. Data was collected from the MASU reporting forms and the medical records of emergency and other specialized hospital departments. Results: With 3248 identified victims, the annual incidence of school accidents was equal to 0.69 per 100 pupils and students per year. The average age of victims was 14.51 ± 0.059 years and the sex ratio was 1.58. Pupils aged between 12 and 15 years, were concerned by 46.7% of the identified accidents. The practice of sports was the most relevant circumstances of these accidents (76.2 %). In 56.58 % of cases, falls were the leading mechanism. Bruises and fractures were the most frequent lesions (32.43 % and 30.51 %). Serious school accidents were noted in 28% of cases with hospitalization in 2.27 % of them. The average lost school days, was 12.23±1.73 days. Accidents occurring during sports or leisure activities were significantly more serious (p= 0.021). Furthermore, the frequency of hospitalization was significantly higher among boys (2.81% vs. 1.43%; p= 0.035), students ≤11 years (p= 0.008), and following crush trauma (p= 0.000). In addition, the surgical interventions were statistically more frequent among male victims (p=0.00), accidents occurring during physical education sessions (p=0.000); those associated to falls (p=0.000) and to crushes mechanisms (p=0.002), and injuries affecting lower limbs (p=0.000). Following this Multi-varied analysis concluded that the severity of school accident is correlated to the activity practiced during the trauma and the geographical location of the school. Conclusion: Children and adolescents are one of the most vulnerable groups against incidents with the risk of permanent disability, mainly related to the perturbation of the growth process and physiological limitations. Our five-year study, objectified a real elevate incidence of school accident among children and adolescents, with a considerable rate of severe injuries. In any community, the promotion of adolescents and children’s health is an important indicator of the public health level. Thus, it’s important to develop a multidisciplinary prevention strategy of school accident, based on safety and security rules and adapted to the specificity of our context.

Keywords: children and adolescents, children health, injuries and disability, school accident

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Authors: Sanjaya Humagain, Rajendra Koju

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Background: Rheumatic heart disease (RHD) is the most common cardiovascular disease in children and young adults. Though declined and almost non-existent in developed nations, RHD is still one of the leading cause for premature death and disability in developing countries. Prevalence of RHD is high in both rural as well as urban area of Nepal. Present study is designed to look at the pattern of valvular involvement and demographic features in RHD. Methods: 326 patients indicated for inj. Benzathine penicillin were selected and echocardiograph performed to see the pattern of vavular involvement. Data analysis was done using SPSS 17. Result: The most common type of lesion was mixed type with mitral valve involvement. MR was the most common isolated lesion. MS was more commonly seen in females whereas AS was more common in males. Secondary prophylaxis was more common than primary prophylaxis. Conclusion: RHD still being a major problem and a preventable disease so extensive screening program is required to identify them early and prevent the complication.

Keywords: acute rheumatic fever, RHD, MS, MR, AS, AR, Inj benzathine penicillin

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Authors: Ishrar Tabassum, Jay Andrew Saptok, Khalid Raihan Kabir, Elmee Tabassum

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The purpose of this study is to bring light to the current state of the working environments in the corporate environment and other such institutions with a particular focus on the Bangladesh National Building Code (BNBC) and its guidelines for accommodating the physically disabled. Data were collected via semi-formal interviews, site visits and focus groups conducted using a preset questionnaire as the guidelines. After conducting surveys at corporate offices of 20 organizations from major commercial sectors in Dhaka city, the auditing showed many inadequacies, as aside from the larger corporate offices, the offices have little to no accessibility for the physically disabled. This study hopes to shed light on the fact that the existing BNBCs lack of emphasis on ensuring the accessibility of the handicapped in corporate buildings in the hope that, in the future, the physically disabled will have greater opportunities at being productive members of the workforce.

Keywords: person with disability, PWD, corporate buildings, Dhaka City

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Authors: Rezaei Hachesu Peyman, Oliyaee Azadeh, Salahzadeh Zahra, Alizadeh Somayyeh, Safaei Naser

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Coronary Artery Disease (CAD) is one major cause of disability in adults and one main cause of death in developed. In this study, data mining techniques including Decision Trees, Artificial neural networks (ANNs), and Support Vector Machine (SVM) analyze CAD data. Data of 4948 patients who had suffered from heart diseases were included in the analysis. CAD is the target variable, and 24 inputs or predictor variables are used for the classification. The performance of these techniques is compared in terms of sensitivity, specificity, and accuracy. The most significant factor influencing CAD is chest pain. Elderly males (age > 53) have a high probability to be diagnosed with CAD. SVM algorithm is the most useful way for evaluation and prediction of CAD patients as compared to non-CAD ones. Application of data mining techniques in analyzing coronary artery diseases is a good method for investigating the existing relationships between variables.

Keywords: classification, coronary artery disease, data-mining, knowledge discovery, extract

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Authors: Lamia Bouzgarrou, Amira Omrane, Malika Azzouzi, Asma Kheder, Amira Saadallah, Ilhem Boussarsar, Kamel Rejeb

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Introduction: Increasing the women’s labor force participation is a political issue in countries with developed economies and those with low growth prospects. However, in the labor market, women continue to face several obstacles, either for the integration or for the maintenance at work. This study aims to assess the prevalence of premature withdrawal from working life -due to invalidity or medical justified early retirement- among active women in the Tunisian center and to identify its determinants. Material and methods: We conducted a cross-sectional study, over one year, focusing on the agreement for invalidity or early retirement for premature usury of the body- delivered by the medical commission of the National Health Insurance Fund (CNAM) in the central Tunisian district. We exhaustively selected women's files. Data related to Socio-demographic characteristics, professional and medical ones, were collected from the CNAM's administrative and medical files. Results: During the period of one year, 222 women have had an agreement for premature departure of their professional activity. Indeed, 149 women (67.11%) benefit of from invalidity agreement and 20,27% of them from favorable decision for early retirement. The average age was 50 ± 6 years with extremes of 23 and 62 years, and 18.9% of women were under 45 years. Married women accounted for 69.4% and 59.9% of them had at least one dependent child in charge. The average professional seniority in the sector was 23 ± 8 years. The textile-clothing sector was the most affected, with 70.7% of premature departure. Medical reasons for withdrawal from working life were mainly related to neuro-degenerative diseases in 46.8% of cases, rheumatic ones in 35.6% of cases and cardiovascular diseases in 22.1% of them. Psychiatric and endocrine disorders motivated respectively 17.1% and 13.5% of these departures. The evaluation of the sequels induced by these pathologies concluded to an average permanent partial disability equal to 61.4 ± 17.3%. The analytical study concluded that the agreement of disability or early retirement was correlated with the insured ‘age (p = 10-3), the professional seniority (p = 0.003) and the permanent partial incapacity (PPI) rate assessed by the expert physician (p = 0.04). No other social or professional factors were correlated with this decision. Conclusion: Despite many advances in labour law and Tunisian legal text on employability, women still exposed to several social and professional inequalities (payment inequality, precarious work ...). Indeed, women are often pushed to accept working in adverse conditions, thus they are more vulnerable to develop premature wear on the body and being forced to premature departures from the world of work. These premature withdrawals from active life are not only harmful to the concerned women themselves, but also associated with considerable costs for the insurance organism and the society. In order to ensure maintenance at work for women, a political commitment is imperative in the implementation of global prevention strategies and the improvement of working conditions, particularly in our socio-cultural context.

Keywords: Active Women , Early Retirement , Invalidity , Maintenance at Work

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Authors: Catherine Equey Balzli

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Old age retirement pensions are an important concern among the Swiss but estimating one’s income after retirement is difficult due to the Swiss insurance system’s complexity. This project’s aim is to prepare for developing a digital platform that will allow individuals to plan for retirement in a simplified manner. The main objective of the platform will be to give individuals the tools to check that their savings and retirement benefits will allow them to continue the lifestyle to which they are accustomed once they are retired. The research results from qualitative (focus group) and quantitative (survey) methodologies, recommend the scope and functionalities for a digital platform to be developed. A main outcome is the need to limit the platform’s scope to old-age pension only (excluding survivors’ or disability pensions, for instance). Furthermore, an outcome regarding the functionalities is the proposition of scenarios such as early retirement, changes to income, or modifications to personal status. The development of the digital platform will be a subsequent project.

Keywords: benefit statement, digital platform, retirement financial planning, social insurance

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Authors: D. Estrella, A. Silva, R. Zapata, H. Rubio

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A total of 100 primary caregivers (mothers, fathers, grandparents) with at least one child or grandchild with a diagnosis of congenital bilateral profound deafness were assessed in order to evaluate the functionality of families with a deaf member, who was evaluated by specialists in audiology, molecular biology, genetics and psychology. After confirmation of the clinical diagnosis, DNA from the patients and parents were analyzed in search of the 35delG deletion of the GJB2 gene to determine who possessed the mutation. All primary caregivers were provided psychological support, regardless of whether or not they had the mutation, and prior and subsequent, the family APGAR test was applied. All parents, grandparents were informed of the results of the genetic analysis during the psychological intervention. The family APGAR, after psychological and genetic counseling, showed that 14% perceived their families as functional, 62% moderately functional and 24% dysfunctional. This shows the importance of psychological support in family functionality that has a direct impact on the quality of life of these families.

Keywords: deafness, psychological support, family, adaptation to disability

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Authors: Tavee Cheausuwantavee

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: COVID-19 pandemic significantly has impacted everyone’s life. Persons with disabilities (PWDs) in Thailand have been also effected by COVID-19 situation in many aspects of their lives, while there have been no more appropriate services of the government and providers. Research projects had been only focused on health precaution and protection. Rapid need assessments on populations and vulnerable groups were limited and conducted via social media and an online survey. However, little is known about the real problems and needs of Thai PWDs during the COVID-19 pandemic for an effective plan and integral services for those PWDs. Therefore, this study aims to explore the diverse problems and needs of Thai PWDs in the COVID -19 pandemic. Results from the study can be used by the government and other stakeholders for further effective services. Methods: This study was used a mixed-method design that consisted of both quantitative and qualitative measures. In terms of the quantitative approach, there were 744 PWDs and caregivers of all types of PWDs selected by proportional multistage stratified random sampling according to their disability classification and geographic location. Questionnaires with 59 items regarding participant characteristics, problems, and needs in health, education, employment, and other social inclusion, were distributed to all participants and some caregivers completed questionnaires when PWDs were not able to due to limited communication and/or literacy skills. Completed questionnaires were analyzed by descriptive statistics. For qualitative design, 62 key informants who were PWDs or caregivers were selected by purposive sampling. Ten focus groups, each consisting of 5-6 participants and 7 in-depth interviews from all the groups identified above, were conducted by researchers across five regions. Focus group and in-depth interview guidelines with 6 items regarding problems and needs in health, education, employment, other social inclusion, and their coping during COVID -19 pandemic. Data were analyzed using a modification of thematic content analysis. Results: Both quantitative and qualitative studies showed that PWDs and their caregivers had significant problems and needs all aspects of their life, including income and employment opportunity, daily living and social inclusion, health, and education, respectively. These problems and needs were related to each other, forming a vicious cycle. Participants also learned from negative pandemic to more positive life aspects, including their health protection, financial plan, family cohesion, and virtual technology literacy and innovation. Conclusion and implications: There have been challenges facing all life aspects of PWDs in Thailand during the COVID -19 pandemic, particularly incomes and daily living. All challenges have been the vicious cycle and complicated. There have been also a positive lesson learned of participants from the pandemic. Recommendations for government and stakeholders in the COVID-19 pandemic for PWDs are the following. First, the health protection strategy and policy of PWDs should be promoted together with other quality of life development including income generation, education and social inclusion. Second, virtual technology and alternative innovation should be enhanced for proactive service providers. Third, accessible information during the pandemic for all PWDs must be concerned. Forth, lesson learned from the pandemic should be shared and disseminated for crisis preparation and a positive mindset in the disruptive world.

Keywords: challenge, COVID-19, disability, Thailand

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Authors: Qian Jin

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Museums have been using interactive technology to spark visitor interest and improve understanding. These technologies can play a crucial role in helping visitors understand more about an exhibition site by using multimedia to provide information. Google Arts and Culture and Smartify are two very successful digital heritage products. They used mobile augmented reality to visualise the museum's 3D models and heritage images but did not include 3D models of the collection and audio information. In this research, service-oriented mobile augmented reality application was developed for users to access collections from multiple museums(including V and A, the British Museum, and British Library). The third-party API (Application Programming Interface) is requested to collect metadata (including images, 3D models, videos, and text) of three museums' collections. The acquired content is then visualized in AR environments. This product will help users who cannot visit the museum offline due to various reasons (inconvenience of transportation, physical disability, time schedule).

Keywords: digital heritage, argument reality, museum, flutter, ARcore

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Authors: Siti Rossidatul Munawaroh, Siti Khusnul Khowatim

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This study is determined to find how is the influence of family attention of students in provides guidance of the student learning. The increasing of student’s learning motivation can be increased made up in various ways, one of them are through students social guidance in their relation with the family. The family not only provides the matter and the learning time but also be supervise for the learning time and guide his children to overcome a learning disability. The character of physics subject in their science experiences at junior high schools has demanded that student’s ability is to think symbolically and understand something in a meaningful manner. Therefore, the reinforcement of the physics learning motivation is clearly necessary not only by the school are related, but the family environment and the society. As for the role of family which includes maintenance, parenting, coaching, and educating both of physically and spiritually, this way is expected to give spirit impulsion in studying physics subject in order to increase student learning achievements.

Keywords: physics subject, the influence of family attention, learning motivation, the Student care

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Authors: Tryastuti I. B. Manullang, Juang Sunanto

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This study aimed to find the perspectives of the Toba Batak education stakeholders towards the education of children with disabilities in Toba Samosir North Sumatra Indonesia. The education stakeholders consist of a head of the education department in Toba Samosir, head of the H foundation, two principals and three teachers from the Special Primary Schools. This study uses qualitative a descriptive approach and research data obtained through interviews. The results of this study demonstrate that the education stakeholders knowledge about disabilities needs improvement in accordance with the development of science. The cultural views towards disability and its implications, and the education services available for children with disabilities, in addition, to encountered its problem in Toba Samosir are known. The education concept considered appropriate is the special school and the CBR (Community Based Rehabilitation) strategy, also inclusive education because it represents the Toba Batak philosophy.

Keywords: community based rehabilitation, education concept, education stakeholders, inclusive education

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Authors: D. R. Apoorva

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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare oculocutaneous disorder of genetic origin. This disorder results from mutations in the membrane-bound transcription factor protease site, two genes that impair cholesterol homeostasis, and the ability to cope with endoplasmic reticulum stress. We report a rare case of IFAP syndrome with an atypical presentation, and it was interesting to note that the child had patchy non-scarring alopecia over the scalp along with unilateral madarosis. To our best knowledge, this unique presentation has not been described earlier. The child presented with photophobia and unilateral ptosis. The child also had short stature and intellectual disability. Skin histopathology was nonspecific and consisted of dilated hair follicles with keratin plugs extending above the skin surface. This rare oculocutaneous disorder requires proper documentation so that identification of its variants may be possible in the future. Early recognition of atypical presentations can help in preventing cardiovascular complications, which remain the major cause of death.

Keywords: alopecia, photophobia, ichthyosis follicularis, IFAP syndrome

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Authors: Sarah Reker, Christiane H. Kellner

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From the perspective of people with disabilities, inequalities can also emerge from spatial segregation, the lack of social contacts or limited economic resources. In order to reduce or even eliminate these disadvantages and increase general well-being, community-based participation as well as decentralisation efforts within exclusively residential homes is essential. Therefore, the new research project “Index for participation development and quality of life for persons with disabilities”(TeLe-Index, 2014-2016), which is anchored at the Technische Universität München in Munich and at a large residential complex and service provider for persons with disabilities in the outskirts of Munich aims to assist the development of community-based living environments. People with disabilities should be able to participate in social life beyond the confines of the institution. Since a diverse society is a society in which different individual needs and wishes can emerge and be catered to, the ultimate goal of the project is to create an environment for all citizens–regardless of disability, age or ethnic background–that accommodates their daily activities and requirements. The UN-Convention on the Rights of Persons with Disabilities, which Germany also ratified, postulates the necessity of user-centered design, especially when it comes to evaluating the individual needs and wishes of all citizens. Therefore, a multidimensional approach is required. Based on this insight, the structure of the town-like center will be remodeled to open up the community to all people. This strategy should lead to more equal opportunities and open the way for a much more diverse community. Therefore, macro-level research questions were inspired by quality of life theory and were formulated as follows for different dimensions: •The user dimension: what needs and necessities can we identify? Are needs person-related? Are there any options to choose from? What type of quality of life can we identify? The economic dimension: what resources (both material and staff-related) are available in the region? (How) are they used? What costs (can) arise and what effects do they entail? •The environment dimension: what “environmental factors” such as access (mobility and absence of barriers) prove beneficial or impedimental? In this context, we have provided academic supervision and support for three projects (the construction of a new school, inclusive housing for children and teenagers with disabilities and the professionalization of employees with person-centered thinking). Since we cannot present all the issues of the umbrella-project within the conference framework, we will be focusing on one project more in-depth, namely “Outpatient Housing Options for Children and Teenagers with Disabilities”. The insights we have obtained until now will enable us to present the intermediary results of our evaluation. The most central questions pertaining to this part of the research were the following: •How have the existing network relations been designed? •What meaning (or significance) does the existing service offers and structures have for the everyday life of an external residential group? These issues underpinned the environmental analyses as well as the qualitative guided interviews and qualitative network analyses we carried out.

Keywords: decentralisation, environmental analyses, outpatient housing options for children and teenagers with disabilities, qualitative network analyses

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Authors: Parveen Kundu, Zile Singh, Kunika Kundu, Swaran Kaur

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Context: Tuberculous osteomyelitis is a relatively uncommon condition that can present with various clinical and radiological features, often mimicking bone tumors or tumor-like lesions. In endemic countries like India, tuberculosis should be considered as a potential differential diagnosis for lytic bone lesions. This study aimed to highlight the different presentations of tuberculosis that can mimic tumors or tumor-like lesions in bone and emphasize the successful outcome of antitubercular therapy (ATT) in treating these cases. Research Aim: The main objective of this research was to explore the varied presentations of tuberculosis that mimic bone tumors or tumor-like lesions both clinically and radiologically, focusing on different bones. The study aimed to raise awareness among clinicians about this possibility and highlight the importance of histopathological confirmation before initiating treatment for lytic bone lesions. Methodology: This study utilized a retrospective review of 22 patients with suspected lytic bone lesions, who were subsequently diagnosed with tuberculous osteomyelitis through histopathological examination. The cases were collected over a period of ten years. Eleven cases required curettage for extensive lesions with sequestrations, while all 22 patients received 12 months of antitubercular therapy. Findings: The study included 14 male and 8 female patients, ranging in age from 3 to 61 years, with an average age of 22.05. The clinical and radiological presentations varied, with examples including bone cysts in the metaphyseal area of long bones, lesions resembling chondroblastomas, giant cell tumors, and osteoid osteoma, as well as multifocal lytic lesions resembling metastasis or multiple myeloma. One patient had lesions in both the clavicle and hand. Lesions mimicking chondromas were also observed in the phalanges of the hand and foot metatarsal. All patients showed resolution of the lesions and no residual disability following ATT. Theoretical Importance: This study highlights the importance of considering tuberculosis as a potential differential diagnosis for lytic bone lesions, particularly in endemic regions. It emphasizes the need for histopathological confirmation to accurately diagnose tuberculous osteomyelitis, as this is considered the gold standard. Data Collection and Analysis Procedures: Data for this study were collected retrospectively from medical records and radiological images of the 22 patients. The cases were analyzed based on clinical presentation, radiological findings, and histopathological confirmation. The outcomes of antitubercular therapy were also assessed. The data were summarized and presented descriptively. Question Addressed: This study aimed to address the question of how tuberculosis can mimic different bone tumors and tumor-like lesions clinically and radiologically. It also aimed to assess the successful outcome of antitubercular therapy in treating these cases. Conclusion: Tuberculous osteomyelitis can present with varied clinical and radiological features, often mimicking bone tumors or tumor-like lesions. Clinicians should consider tuberculosis as a potential diagnosis for lytic bone lesions, especially in endemic areas. Histopathological confirmation is essential for accurate diagnosis. Antitubercular therapy is an effective treatment for tuberculous osteomyelitis, leading to the resolution of the lesions with no residual disability.

Keywords: tuberculosis, tumor, curettage, bone

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