Search results for: psychogenic non-epileptic seizure disorder (PNES)

Authors: A. Iqbal Banauaji, Muchamad Sholikun

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Diabetes mellitus (DM) is a metabolism disorder that tends to increase its prevalence in the world, including in Indonesia. The development of DM type 2 can cause oxidative stress characterized by an imbalance between oxidants and antioxidants in the body Increased oxidative stress causes type 2 diabetes mellitus to require intake of exogenous antioxidants in large quantities to inhibit oxidative damage in the body. Bran can be defined as a functional food because it consists of 11.39% fiberand 28.7% antioxidants and the purple yam consists of anthocyanin which functions as an antioxidant. With abundant amount and low price, purple yam and bran can be used for analog rice as the effort to diversify functional food. The antioxidant’s activity of analog rice from purple yam and bran which is measured by using DPPH’s method is 12,963%. The rough fiber’s level on the analog rice from purple yam is 2.985%. The water amount of analog rice from purple yam and bran is 8.726%. Analog rice from purple yam and bran has the similar texture as the usual rice, tasted slightly sweet, light purple colored, and smelled like bran.

Keywords: antioxidant, analog rice, functional food, diabetes mellitus

Procedia PDF Downloads 193

Authors: M. Skibinska, A. Rajewska-Rager, M. Dmitrzak-Weglarz, N. Lepczynska, P. Sibilski, P. Kapelski, J. Pawlak, J. Twarowska-Hauser

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Introduction: Neurotrophic factors have been implicated in neuropsychiatric disorders. Brain-Derived Neurotrophic Factor (BDNF) influences neuron differentiation in development as well as synaptic plasticity and neuron survival in adulthood. BDNF is widely studied in mood disorders and has been proposed as a biomarker for depression. BDNF is synthesized as precursor protein – proBDNF. Both forms are biologically active and exert opposite effects on neurons. Aim: The aim of the study was to examine the serum levels of BDNF and proBDNF in unipolar and bipolar young patients below 24 years old during hypo/manic, depressive episodes and in remission compared to healthy control group. Methods: In a prospective 2 years follow-up study, we investigated alterations in levels of BDNF and proBDNF in 79 patients (23 males, mean age 19.08, SD 3.3 and 56 females, mean age 18.39, SD 3.28) diagnosed with mood disorders: unipolar and bipolar disorder compared with 35 healthy control subjects (7 males, mean age 20.43, SD 4.23 and 28 females, mean age 21.25, SD 2.11). Clinical characteristics including mood, comorbidity, family history, and treatment, were evaluated during control visits and clinical symptoms were rated using the Hamilton Depression Rating Scale and Young Mania Rating Scale. Serum BDNF and proBDNF concentrations were determined by Enzyme-Linked Immunosorbent Assays (ELISA) method. Serum BDNF and proBDNF levels were analysed with covariates: sex, age, age > 18 and < 18 years old, family history of affective disorders, drug-free vs. medicated status. Normality of the data was tested using Shapiro-Wilk test. Levene’s test was used to calculate homogeneity of variance. Non-parametric Tests: Mann-Whitney U test, Kruskal-Wallis ANOVA, Friedman’s ANOVA, Wilcoxon signed rank test, Spearman correlation coefficient were applied in analyses The statistical significance level was set at p < 0.05. Results: BDNF and proBDNF serum levels did not differ between patients at baseline and controls as well as comparing patients in acute episode of depression/hypo/mania at baseline and euthymia (at month 3 or 6). Comparing BDNF and proBDNF levels between patients in euthymia and control group no differences have been found. Increased BDNF level in women compared to men at baseline (p=0.01) have been observed. BDNF level at baseline was negatively correlated with depression and mania occurence at 24 month (p=0.04). BDNF level at 12 month was negatively correlated with depression and mania occurence at 12 month (p=0.01). Correlation of BDNF level with sex have been detected (p=0.01). proBDNF levels at month 3, 6 and 12 negatively correlated with disease status (p=0.02, p=0.008, p=0.009, respectively). No other correlations of BDNF and proBDNF levels with clinical and demographical variables have been detected. Discussion: Our results did not show any differences in BDNF and proBDNF levels between depression, mania, euthymia, and controls. Imbalance in BDNF/proBDNF signalling may be involved in pathogenesis of mood disorders. Further studies on larger groups are recommended. Grant was founded by National Science Center in Poland no 2011/03/D/NZ5/06146.

Keywords: bipolar disorder, Brain-Derived Neurotrophic Factor (BDNF), proBDNF, unipolar depression

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Authors: Sehur Sibel Ozkaynak, Zakir Koc, Ebru Barcın

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Essential tremor (ET) is one of the most common movement disorders and has long been considered a monosymptomatic disorder. While ET has traditionally been categorized as a pure motor disease, cross-sectional and longitudinal studies of cognition in ET have been demonstrated that these patients may have cognitive dysfunction. We investigated the neuro physiological aspects of cognition in ET, using event-related potentials (ERPs).Twenty patients with ET and 20 age-education and sex matched healthy controls underwent a neuro physiological evaluation. P300 components and Contingent Negative Variation (CNV) were recorded. The latencies and amplitudes of the P300 and CNV were evaluated. P200-N200 amplitude was significantly smaller in the ET group, while no differences emerged between patients and controls in P300 latencies. CNV amplitude was significantly smaller at Cz electrode site in the ET group. No differences were observed between in the two groups in CNV latencies. As a result, P300 and CNV parameters did not show significant differences between in the two groups, does not mean that there aren't mild cognitive changes in ET patients. In this regard, there is a need to further studies using electro physiological tests related to cognitive changes in ET patients.

Keywords: cognition, essential tremor, event related potentials

Procedia PDF Downloads 287

Authors: Nervana Elbakary, Sami Ouanes, Sadaf Riaz, Oraib Abdallah, Islam Mahran, Noriya Al-Khuzaei, Yassin Eltorki

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Major Depressive Disorder (MDD) requires therapeutic interventions during the initial month after being diagnosed for better disease outcomes. International guidelines recommend a duration of 4–12 weeks for an initial antidepressant (IAD) trial at an optimized dose to get a response. If depressive symptoms persist after this duration, guidelines recommend switching, augmenting, or combining strategies as the next step. Most patients with MDD in the mental health setting have been labeled incorrectly as treatment-resistant where in fact they have not been subjected to an adequate trial of guideline-recommended therapy. Premature discontinuation of IAD due to ineffectiveness can cause unfavorable consequences. Avoiding irrational practices such as subtherapeutic doses of IAD, premature switching between the ADs, and refraining from unjustified polypharmacy can help the disease to go into a remission phase We aimed to determine the prevalence and the patterns of strategies applied after an IAD was changed because of a suboptimal response as a primary outcome. Secondary outcomes included the median survival time on IAD before any change; and the predictors that were associated with IAD change. This was a retrospective cross- sectional study conducted in Mental Health Services in Qatar. A dataset between January 1, 2018, and December 31, 2019, was extracted from the electronic health records. Inclusion and exclusion criteria were defined and applied. The sample size was calculated to be at least 379 patients. Descriptive statistics were reported as frequencies and percentages, in addition, to mean and standard deviation. The median time of IAD to any change strategy was calculated using survival analysis. Associated predictors were examined using two unadjusted and adjusted cox regression models. A total of 487 patients met the inclusion criteria of the study. The average age for participants was 39.1 ± 12.3 years. Patients with first experience MDD episode 255 (52%) constituted a major part of our sample comparing to the relapse group 206(42%). About 431 (88%) of the patients had an occurrence of IAD change to any strategy before end of the study. Almost half of the sample (212 (49%); 95% CI [44–53%]) had their IAD changed less than or equal to 30 days. Switching was consistently more common than combination or augmentation at any timepoint. The median time to IAD change was 43 days with 95% CI [33.2–52.7]. Five independent variables (age, bothersome side effects, un-optimization of the dose before any change, comorbid anxiety, first onset episode) were significantly associated with the likelihood of IAD change in the unadjusted analysis. The factors statistically associated with higher hazard of IAD change in the adjusted analysis were: younger age, un-optimization of the IAD dose before any change, and comorbid anxiety. Because almost half of the patients in this study changed their IAD as early as within the first month, efforts to avoid treatment failure are needed to ensure patient-treatment targets are met. The findings of this study can have direct clinical guidance for health care professionals since an optimized, evidence-based use of AD medication can improve the clinical outcomes of patients with MDD; and also, to identify high-risk factors that could worsen the survival time on IAD such as young age and comorbid anxiety

Keywords: initial antidepressant, dose optimization, major depressive disorder, comorbid anxiety, combination, augmentation, switching, premature discontinuation

Procedia PDF Downloads 151

Authors: Yishu Gong, Liangliang Yang, Jianyu Zhang, Zhengyu Chen, Sihong He, Xusheng Zhang, Wei Zhang

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Alzheimer’s disease (AD) is a progressive neurodegenerative disorder that affects millions of people worldwide and is characterized by cognitive decline and behavioral changes. People living with Alzheimer’s disease often find it hard to complete routine tasks. However, there are limited objective assessments that aim to quantify the difficulty of certain tasks for AD patients compared to non-AD people. In this study, we propose to use speech emotion recognition (SER), especially the frustration level, as a potential biomarker for quantifying the difficulty patients experience when describing a picture. We build an SER model using data from the IEMOCAP dataset and apply the model to the DementiaBank data to detect the AD/non-AD group difference and perform longitudinal analysis to track the AD disease progression. Our results show that the frustration level detected from the SER model can possibly be used as a cost-effective tool for objective tracking of AD progression in addition to the Mini-Mental State Examination (MMSE) score.

Keywords: Alzheimer’s disease, speech emotion recognition, longitudinal biomarker, machine learning

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Authors: Christine F. Boos, Fernando M. Azevedo

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Electroencephalogram (EEG) is a record of the electrical activity of the brain that has many applications, such as monitoring alertness, coma and brain death; locating damaged areas of the brain after head injury, stroke and tumor; monitoring anesthesia depth; researching physiology and sleep disorders; researching epilepsy and localizing the seizure focus. Epilepsy is a chronic condition, or a group of diseases of high prevalence, still poorly explained by science and whose diagnosis is still predominantly clinical. The EEG recording is considered an important test for epilepsy investigation and its visual analysis is very often applied for clinical confirmation of epilepsy diagnosis. Moreover, this EEG analysis can also be used to help define the types of epileptic syndrome, determine epileptiform zone, assist in the planning of drug treatment and provide additional information about the feasibility of surgical intervention. In the context of diagnosis confirmation the analysis is made using long term EEG recordings with at least 24 hours long and acquired by a minimum of 24 electrodes in which the neurophysiologists perform a thorough visual evaluation of EEG screens in search of specific electrographic patterns called epileptiform discharges. Considering that the EEG screens usually display 10 seconds of the recording, the neurophysiologist has to evaluate 360 screens per hour of EEG or a minimum of 8,640 screens per long term EEG recording. Analyzing thousands of EEG screens in search patterns that have a maximum duration of 200 ms is a very time consuming, complex and exhaustive task. Because of this, over the years several studies have proposed automated methodologies that could facilitate the neurophysiologists’ task of identifying epileptiform discharges and a large number of methodologies used neural networks for the pattern classification. One of the differences between all of these methodologies is the type of input stimuli presented to the networks, i.e., how the EEG signal is introduced in the network. Five types of input stimuli have been commonly found in literature: raw EEG signal, morphological descriptors (i.e. parameters related to the signal’s morphology), Fast Fourier Transform (FFT) spectrum, Short-Time Fourier Transform (STFT) spectrograms and Wavelet Transform features. This study evaluates the application of these five types of input stimuli and compares the classification results of neural networks that were implemented using each of these inputs. The performance of using raw signal varied between 43 and 84% efficiency. The results of FFT spectrum and STFT spectrograms were quite similar with average efficiency being 73 and 77%, respectively. The efficiency of Wavelet Transform features varied between 57 and 81% while the descriptors presented efficiency values between 62 and 93%. After simulations we could observe that the best results were achieved when either morphological descriptors or Wavelet features were used as input stimuli.

Keywords: Artificial neural network, electroencephalogram signal, pattern recognition, signal processing

Procedia PDF Downloads 528

Authors: M. Trousselard, D. Steiler, C. Drogou, P. van-Beers, G. Lamour, S. N. Crosnier, O. Bouilland, P. Dubost, M. Chennaoui, D. Léger

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According to published data, undersea navigation for long periods (nuclear-powered ballistic missile submarine, SSBN) constitutes an extreme environment in which crews are subjected to multiple stresses, including the absence of natural light, illuminance below 1,000 lux, and watch schedules that do not respect natural chronobiological rhythms, for a period of 60-80 days. These stresses seem clearly detrimental to the submariners’ sleep, with consequences for their affective (seasonal affective disorder-like) and cognitive functioning. In the long term, there are abundant publications regarding the consequences of sleep disruption for the occurrence of organic cardiovascular, metabolic, immunological or malignant diseases. It seems essential to propose countermeasures for the duration of the patrol in order to reduce the negative physiological effects on the sleep and mood of submariners. Light therapy, the preferred treatment for dysfunctions of the internal biological clock and the resulting seasonal depression, cannot be used without data to assist knowledge of submariners’ chronobiology (melatonin secretion curve) during patrols, given the unusual characteristics of their working environment. These data are not available in the literature. The aim of this project was to assess, in the course of two studies, the benefits of two environmental techniques for managing chronobiological stress: techniques for optimizing potential (TOP; study 1)3, an existing programme to help in the psychophysiological regulation of stress and sleep in the armed forces, and dawn and dusk simulators (DDS, study 2). For each experiment, psychological, physiological (sleep) or biological (melatonin secretion) data were collected on D20 and D50 of patrol. In the first experiment, we studied sleep and depressive distress in 19 submariners in an operational setting on board an SSBM during a first patrol, and assessed the impact of TOP on the quality of sleep and depressive distress in these same submariners over the course of a second patrol. The submariners were trained in TOP between the two patrols for a 2-month period, at a rate of 1 h of training per week, and assigned daily informal exercises. Results show moderate disruptions in sleep pattern and duration associated with the intensity of depressive distress. The use of TOP during the following patrol improved sleep and depressive mood only in submariners who regularly practiced the techniques. In light of these limited benefits, we assessed, in a second experiment, the benefits of DDS on chronobiology (daily secretion of melatonin) and depressive distress. Ninety submariners were randomly allocated to two groups, group 1 using DDS daily, and group 2 constituting the control group. Although the placebo effect was not controlled, results showed a beneficial effect on chronobiology and depressive mood for submariners with a morning chronotype. Conclusions: These findings demonstrate the difficulty of practicing the tools of psychophysiological management in real life. They raise the question of the subjects’ autonomy with respect to using aids that involve regular practice. It seems important to study autonomy in future studies, as a cognitive resource resulting from the interaction between internal positive resources and “coping” resources, to gain a better understanding of compliance problems.

Keywords: chronobiology, light therapy, seasonal affective disorder, sleep, stress, stress management, submarine

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Authors: Uma Kanth, Amy Cook

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Conceptual Metaphor Theory (CMT) proposes that metaphor is fundamental to human thought. CMT utilizes embodied cognition, in that emotions are conceptualized as effects on the body because of a coupling of one’s bodily experiences and one’s somatosensory system. Time perception is a function of embodied cognition and conceptual metaphor in that one’s experience of time is inextricably dependent on one’s perception of the world around them. A hallmark of depressive disorders is the distortion in one’s perception of time, such as neurological dysfunction and psychomotor retardation, and yet, to the author’s best knowledge, previous studies have not before linked CMT, embodied cognition, and depressive disorders. Therefore, the focus of this paper is the investigation of how the applications of CMT and embodied cognition (especially regarding time perception) have promise in improving current techniques to treat depressive disorders. This paper aimed to extend, through a thorough review of literature, the theoretical basis required to further research into CMT and embodied cognition’s application in treating time distortion related symptoms of depressive disorders. Future research could include the development of brain training technologies that capitalize on the principles of CMT, with the aim of promoting cognitive remediation and cognitive activation to mitigate symptoms of depressive disorder.

Keywords: depression, conceptual metaphor theory, embodied cognition, time

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Authors: Charn Loong Ng, Mamun Bin Ibne Reaz

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As elderly population grows globally, the percentage of people diagnosed with musculoskeletal disorder (MSD) increase proportionally. Electromyography (EMG) is an important biosignal that contributes to MSD’s clinical diagnose and recovery process. Conventional conductive electrode has many disadvantages in the continuous EMG measurement application. This research has design a new surface EMG biosensor based on the parallel-plate capacitive coupling principle. The biosensor is developed by using a double-sided PCB with having one side of the PCB use to construct high input impedance circuitry while the other side of the copper (CU) plate function as biosignal sensing metal plate. The metal plate is insulated using kapton tape for contactless application. The result implicates that capacitive biosensor is capable to constantly capture EMG signal without having galvanic contact to human skin surface. However, there are noticeable noise couple into the measured signal. Post signal processing is needed in order to present a clean and significant EMG signal. A complete design of single ended, non-contact, high input impedance, front end EMG biosensor is presented in this paper.

Keywords: contactless, capacitive, biosensor, electromyography

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Authors: Yaa Asuaba Duopah, Lisa Moran, Khalifa Elmusharaf, Dervla Kelly

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Background: Research has identified a strong link between stress and drug use behaviours. Also, it has been established that the prolonged use of crack cocaine stimulates emotional, cognitive, neurological, and social changes. This paper examines the psychosocial stressors associated with crack cocaine use. Methodology: The study is qualitative and adopts a critical realist approach. Data was collected through 26 face-to-face, in-depth, semi-structured interviews with people who use crack cocaine. Study participants were recruited through two addiction services using purposive. Participants consisted of 15 males and 11 females between the ages of 24-57 years. Data were analysed using thematic analysis. Results: Cravings, financial hardship, family breakdown, and emotional stimulation were revealed as psychosocial stressors associated with crack cocaine use. Conclusion: Addressing the psychosocial stressors identified in this paper through targeted interventions and supportive policies is crucial for improving the well-being of persons who use crack cocaine. Collaboration between addiction, mental health, and support services is recommended to develop and deliver these interventions.

Keywords: psychological stress, substance misuse disorder, mental health, coping

Procedia PDF Downloads 55

Authors: Meltem Ramoglu, Ertugrul Safran, Hikmet Ucgun, Busra Kepenek Varol, Hulya Nilgun Gurses

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Down’s syndrome (DS) is a human genetic disorder caused by the presence of all or part of an extra chromosome 21. Many patients with DS have musculoskeletal problems that affect weak muscle tone (hypotonia) and ligament laxity. This leads to excessive joint hypermobility and decreased position sense (proprioception). Lack of proprioception may cause balance problems. The aim of our study was to investigate how does joint hypermobility affect balance in patients with DS. Our study conducted with 13 DS patients age between 18 to 40 years. Demographic data were recorded. Beighton Hypermobility Score (BHS) was used to evaluate joint hypermobility. Balance score of participants was evaluated with Berg Balance Scale (BBS). Mean age of our participants was 29,8±3,57 year. Average score of body mass index and BHS were; 33,23 ±3,78 kg/m2 and 7,61±1,04, respectively. Out of a maximum possible score of 56 on the Berg Balance Scale, scores of participants with DS ranged from 36–51, with a mean of 43±4,45. Significant correlation was found between BHS and BBS (r: -,966, p=0.00). All of our participants have 6/9 or higher grade from BHS. As a conclusion of our study; joint hypermobility may affect balance score in patients with DS. The results suggest that people with DS have worse balance scores which affected by hypermobility. Further studies need larger population for more reliable results.

Keywords: adults, balance, Down's syndrome, joint hypermobility

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Authors: Rabindranath Bag, Surjeet Singh

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Materials in which the electrons are strongly correlated provide some of the most challenging and exciting problems in condensed matter physics today. After the discovery of high critical temperature superconductivity in layered or two-dimensional copper oxides, many physicists got attention in cuprates and it led to an upsurge of interest in the synthesis and physical properties of copper-oxide based material. The quest to understand superconducting mechanism in high-temperature cuprates, drew physicist’s attention to somewhat simpler compounds consisting of spin-chains or one-dimensional lattice of coupled spins. Low-dimensional quantum magnets are of huge contemporary interest in basic sciences as well emerging technologies such as quantum computing and quantum information theory, and heat management in microelectronic devices. Spin ladder is an example of quasi one-dimensional quantum magnets which provides a bridge between one and two dimensional materials. One of the examples of quasi one-dimensional spin-ladder compounds is Sr14Cu24O41, which exhibits a lot of interesting and exciting physical phenomena in low dimensional systems. Very recently, the ladder compound Sr14Cu24O41 was shown to exhibit long-distance quantum entanglement crucial to quantum information theory. Also, it is well known that hole-compensation in this material results in very high (metal-like) anisotropic thermal conductivity at room temperature. These observations suggest that Sr14Cu24O41 is a potential multifunctional material which invites further detailed investigations. To investigate these properties one must needs a large and high quality of single crystal. But these systems are showing incongruently melting behavior, which brings many difficulties to grow a large and quality of single crystals. Hence, we are using TSFZ (Travelling Solvent Floating Zone) method to grow the high quality of single crystals of the low dimensional magnets. Apart from this, it has unique crystal structure (alternating stacks of plane containing edge-sharing CuO2 chains, and the plane containing two-leg Cu2O3 ladder with intermediate Sr layers along the b- axis), which is also incommensurate in nature. It exhibits abundant physical phenomenon such as spin dimerization, crystallization of charge holes and charge density wave. The maximum focus of research so far involved in introducing defects on A-site (Sr). However, apart from the A-site (Sr) doping, there are only few studies in which the B-site (Cu) doping of polycrystalline Sr14Cu24O41 have been discussed and the reason behind this is the possibility of two doping sites for Cu (CuO2 chain and Cu2O3 ladder). Therefore, in our present work, the crystals (pristine and Cu-site doped) were grown by using TSFZ method by tuning the growth parameters. The Laue diffraction images, optical polarized microscopy and Scanning Electron Microscopy (SEM) images confirm the quality of the grown crystals. Here, we report the single crystal growth, magnetic and transport properties of Sr14Cu24O41 and its lightly doped variants (magnetic and non-magnetic) containing less than 1% of Co, Ni, Al and Zn impurities. Since, any real system will have some amount of weak disorder, our studies on these ladder compounds with controlled dilute disorder would be significant in the present context.

Keywords: low-dimensional quantum magnets, single crystal, spin-ladder, TSFZ technique

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Authors: Artem Kim, Clara Savary, Christele Dubourg, Wilfrid Carre, Houda Hamdi-Roze, Valerie Dupé, Sylvie Odent, Marie De Tayrac, Veronique David

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Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from the incomplete separation of the two cerebral hemispheres. It is characterized by a wide phenotypic spectrum and a high degree of locus heterogeneity. Genetic defects in 16 genes have already been implicated in HPE, but account for only 30% of cases, suggesting that a large part of genetic factors remains to be discovered. HPE has been recently redefined as a complex multigenic disorder, requiring the joint effect of multiple mutational events in genes belonging to one or several developmental pathways. The onset of HPE may result from accumulation of the effects of multiple rare variants in functionally-related genes, each conferring a moderate increase in the risk of HPE onset. In order to decipher the genetic basis of HPE, unconventional patterns of inheritance involving multiple genetic factors need to be considered. The primary objective of this study was to uncover possible disease causing combinations of multiple rare variants underlying HPE by performing trio-based Whole Exome Sequencing (WES) of familial cases where no molecular diagnosis could be established. 39 families were selected with no fully-penetrant causal mutation in known HPE gene, no chromosomic aberrations/copy number variants and without any implication of environmental factors. As the main challenge was to identify disease-related variants among a large number of nonpathogenic polymorphisms detected by WES classical scheme, a novel variant prioritization approach was established. It combined WES filtering with complementary gene-level approaches: transcriptome-driven (RNA-Seq data) and clinically-driven (public clinical data) strategies. Briefly, a filtering approach was performed to select variants compatible with disease segregation, population frequency and pathogenicity prediction to identify an exhaustive list of rare deleterious variants. The exome search space was then reduced by restricting the analysis to candidate genes identified by either transcriptome-driven strategy (genes sharing highly similar expression patterns with known HPE genes during cerebral development) or clinically-driven strategy (genes associated to phenotypes of interest overlapping with HPE). Deeper analyses of candidate variants were then performed on a family-by-family basis. These included the exploration of clinical information, expression studies, variant characteristics, recurrence of mutated genes and available biological knowledge. A novel bioinformatics pipeline was designed. Applied to the 39 families, this final integrated workflow identified an average of 11 candidate variants per family. Most of candidate variants were inherited from asymptomatic parents suggesting a multigenic inheritance pattern requiring the association of multiple mutational events. The manual analysis highlighted 5 new strong HPE candidate genes showing recurrences in distinct families. Functional validations of these genes are foreseen.

Keywords: complex genetic disorder, holoprosencephaly, multiple rare variants, whole exome sequencing

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Authors: Aline Giardin, Maria Rosa Chitolina, Maria Catarina Zanini

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In this paper, we analyze the conceptions of high school students about mental health issues, and discuss the creation of mental basic health programs in schools. We base our findings in a quantitative survey carried out by us with 156 high school students of CTISM (Colégio Técnico Industrial de Santa Maria) school, located in Santa Maria city, Brazil. We have found that: (a) 28 students relate the subject ‘mental health’ with psychiatric hospitals and lunatic asylums; (b) 28 students have relatives affected by mental diseases; (c) 76 students believe that mental patients, if treated, can live a healthy life; (d) depression, schizophrenia and bipolar disorder are the most cited diseases; (e) 84 students have contact with mental patients, but know nothing about the disease; (f) 123 students have never been instructed about mental diseases while in the school; and (g) 135 students think that a mental health program would be important in the school. We argue that these numbers reflect a vision of mental health that can be related to the reductionist education still present in schools and to the lack of integration between health professionals, sciences teachers, and students. Furthermore, this vision can also be related to a stigmatization process, which interferes with the interactions and with the representations regarding mental disorders and mental patients in society.

Keywords: mental health, schools, mental illness, conception

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Authors: Dimitrios J. Dimitriou, Maria F. Sartzetaki, Simoni K. Lintzerakou

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Air transport links markets and individuals, promoting social and economic development. The review of management direction towards social responsibility and especially for the enhancement of passengers with autism is the key objective of this paper. According to a top-down approach, the key dimensions that affect the basic principles and directions of airport enterprises management towards social responsibility for the case of passengers with autism are presented. Conventional wisdom is to present actions undertaken in improving accessibility for special population groups and highlight the social dimension in the management of transport hubs. The target is to focus on transport hubs serving special groups of passengers such as passengers with autism and highlight good practices and motivate transport infrastructure management authorities and decision makers to promote the social footprint of transport. The highlights and key findings are essential for managers and decision makers to support actions and plans towards management of airport enterprises towards social responsibility, focusing on the case of passengers traveling with Autism Spectrum Disorder (ASD).

Keywords: social responsibility, special groups, airport enterprises, AUTISM

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Authors: Elham Vojoudi, Marzieh Mehrafza, Ahmad Hosseini, Azadeh Raofi, Maryam Najafi

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Premature ovarian failure (POF) has become one of the main causes of infertility in women of childbearing age and the incidence of this disorder is increasing year by year. In these patients, poor ovarian response (POR) to gonadotropins reflects a diminished ovarian reserve (DOR) that gives place to few follicles despite aggressive stimulation. Up to now, egg donation is the only way to resolve infertility problems in POF patients. Therefore, some novel aspects such as activating (Akt signaling pathway) and inhibiting (Hippo-signaling) elements have been identified as IVA procedure that promotes primordial follicle activation. In this study, we used the newly developed technique (combination of in vitro activation of dormant follicles (IVA) and stem cell therapy) to promote ovarian follicle growth much more efficiently than the natural, in vivo process for women with POF. Transplantation of Warton Jelly-MSCs to the ovaries of POF patients rescued overall ovarian function. Participants (10 patients) were followed up monthly for a period of six months by hormonal (AMH, FSH, LH and E2), clinical (resuming menstruation), and US (folliculometry) outcomes after a laparoscopic operation. In summary, IVA/WJ-MSC transplantation may provide an effective treatment for POF.

Keywords: POF, in vitro activation, stem cell therapy, infertility

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Authors: Elena Even-Simkin

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Attention Deficit Hyperactivity Disorder (ADHD) is one of the most frequently diagnosed disorders in children, but in many cases, the diagnosis is not provided until adulthood. Diagnosing adults with ADHD faces different obstacles due to numerous factors, such as educational or under-resourced familial environment, high intelligence compensating for stress-inducing difficulties, and additional comorbidities. Undiagnosed children and adolescents with ADHD may become undiagnosed adults with ADHD, who miss out on the early treatment and may experience significant social and pragmatic difficulties, leading to functional problems that subsequently affect their lifestyle, education, and occupational functioning. The proposed study presents a cost-effective and unique consideration of the pragmatic aspect among adults with ADHD. It provides a systematic and standardized evaluation of the pragmatic level in adults with ADHD, based on a comprehensive approach introduced by Arcara & Bambini (2016) for the assessment of pragmatic abilities in neuro-typical individuals. This assessment tool can promote the inclusion of pragmatic skills in the cognitive profile in the diagnostic practice of ADHD, and, thus, the proposed instrument can help not only identify the pragmatic difficulties in the ADHD population but also advance effective intervention programs that specifically focus on pragmatic skills in the targeted population.

Keywords: ADHD, adults, assessment, pragmatics

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Authors: Laura Bellassen, Idit Shachar

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Multiple sclerosis (MS) is a chronic neurological disorder characterized by demyelination of the central nervous system (CNS), leading to a wide range of physical and cognitive impairments. Myeloid cells in the CNS, such microglia and border associated macrophage cells, participate in the neuroinflammation in MS. Activation of those cells in MS contributes to the inflammatory response in the CNS and recruitment of immune cells in the this compartment. SLAMF5 is a cell surface receptor that functions as a homophilic adhesion molecule, whose signaling can activate or inhibit leukocyte function. In the current study we followed the expression and function of SLAMF5 in myeloid cells in the CNS and in the periphery in the murine model for MS, the experimental autoimmune encephalomyelitis model (EAE). Our results show that SLAMF5 deficiency or blocking decreases the expression of activation molecules and costimulatory molecules such as MHCII and CD80, resulting in delayed onset and reduced progression of the disease. Moreover, blocking SLAMF5 in peripheral monocytes derived from MS patients and iPSC-derived microglia cells, controls the expression of HLA-DR and CD80. Thus, SLAMF5 is a regulator of myeloid cells function and can serve as a therapeutic target in autoimmune disorders as Multiple Sclerosis.

Keywords: multiple sclerosis, EAE model, myeloid cells, new antibody, neuroimmunology

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Authors: Lauren Booker

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In the United States, over 2.5 million children have incarcerated parents. Recent studies have shown 13% of young adults and one-fourth of African Americans will experience parental incarceration. The increasing numbers of incarcerated citizens have left these children as collateral damage and are often forgotten, their special needs inadequately meet or understood. Parental arrest and incarceration creates a uniquely traumatic experience in childhood and has long-term consequences for these children. Until recently, the eating and sleeping habits following parental incarceration had been nonexistent in the literature. However, even this groundbreaking study on eating habits and sleeping disorders following parental incarceration did not touch on the root causes of unhealthy eating which may be influenced by food and housing insecurity and environmental factors that may impact a child’s healthy eating and sleeping behaviors. This study will examine those factors as it could greatly aid in the policies and programs that affect children’s health and development. This proposed study will examine the impact of traumatic stress reactions to parental incarceration by studying sleep and eating habits as the hypothesis is that parental incarceration will lead to disordered eating and sleep disturbances in early adolescents.

Keywords: parental incarceration, eating disorder, trauma, family instability

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Authors: Lakshmi Rao Kandukuri, Mamata Deenadayal, Suma Prasad, Bipin Sethi, Srinadh Buragadda, Lalji Singh

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Worldwide; at least 7.6 million children are born annually with severe genetic or congenital malformations and among them 90% of these are born in mid and low-income countries. Precise prevalence data are difficult to collect, especially in developing countries, owing to the great diversity of conditions and also because many cases remain undiagnosed. The genetic and congenital disorder is the second most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. The higher prevalence of genetic diseases in a particular community may, however, be due to some social or cultural factors. Such factors include the tradition of consanguineous marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome and may cause early death or life-long chronic morbidity. Genetic testing for several genetic diseases identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use and more are being developed. Chromosomal abnormalities are the major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. We present here especially chromosomal abnormalities which form a major part of genetic disease burden in India. Different programmes on chromosome research and human reproductive genetics primarily relate to infertility since this is a major public health problem in our country, affecting 10-15 percent of couples. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding the continuation of pregnancy. In addition to the basic research, the team is providing chromosome diagnostic services that include conventional and advanced techniques for identifying various genetic defects. Other than routine chromosome diagnosis for infertility, also include patients with short stature, hypogonadism, undescended testis, microcephaly, delayed developmental milestones, familial, and isolated mental retardation, and cerebral palsy. Thus, chromosome diagnostics has found its applicability not only in disease prevention and management but also in guiding the clinicians in certain aspects of treatment. It would be appropriate to affirm that chromosomes are the images of life and they unequivocally mirror the states of human health. The importance of genetic counseling is increasing with the advancement in the field of genetics. The genetic counseling can help families to cope with emotional, psychological, and medical consequences of genetic diseases.

Keywords: India, chromosome abnormalities, genetic disorders, cytogenetic study

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Authors: Syamimi Shamsuddin, Hanafiah Yussof, Fazah Akhtar Hanapiah, Salina Mohamed, Nur Farah Farhan Jamil, Farhana Wan Yunus

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Robot-based intervention for children with autism is an evolving research niche in human-robot interaction (HRI). Recent studies in this area mostly covered the role of robots in the clinical and experimental setting. Our previous work had shown that interaction with a robot pose no adverse effects on the children. Also, the presence of the robot, together with specific modules of interaction was associated with less autistic behavior. Extending this impact on school-going children, interactions that are in-tune with special education lessons are needed. This methodological paper focuses on how a robot can be incorporated in a current learning environment for autistic children. Six interaction scenarios had been designed based on the existing syllabus to teach communication skills, using the Applied Behavior Analysis (ABA) technique as the framework. Development of the robotic experience in class also covers the required set-up involving participation from teachers. The actual research conduct involving autistic children, teachers and robot shall take place in the next phase.

Keywords: autism spectrum disorder, ASD, humanoid robot, communication skills, robot-assisted learning

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Authors: Mariam Fishere

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The proposed research study aims at developing an Internet-based transdiagnostic treatment and evaluating its efficacy. Based on the Common Elements Treatment Approach (CETA), a combined low-intensity and technology supported transdiagnostic treatment protocol will be culturally adapted for usage by nonprofessional therapists in Arabic-speaking countries. This Internet-based CETA intervention will target individuals suffering from one or more of the following disorders: depression, anxiety and posttraumatic stress disorder (PTSD), which are all major contributors to the global burden of mental illness. The growing body of research in the area of transdiagnostic treatment has proven to be effective in high-income countries (HICs), but there remain questions about its efficacy, cultural appropriateness, and validity for low- to middle-income countries (LMICs). The aim of this dissertation project is to investigate the efficacy of a newly developed Internet-delivery of an evidence-based transdiagnostic treatment – CETA – for a sample of Arabic-speaking individuals suffering from at least one of the following disorders; depression, anxiety, and PTSD.

Keywords: transdiagnostic, internet-based interventions, mental health, Arab world

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Authors: Amaal Almigal

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Technology has been argued to offer distinct advantages and benefits for teaching children with autism spectrum disorder (ASD) to communicate. One aspect of this technology is augmentative and alternative communication (AAC) systems such as picture exchange or speech generation devices. Whilst there has been significant progress in teaching these children to request their wants and needs with AAC, there remains a need for developing technologies that can really make a difference in teaching them to ask questions. iPad-based AAC can be effective for communication. However, the effectiveness of this type of AAC in teaching children to ask questions needs to be examined. Thus, in order to examine the effectiveness of iPad-based AAC in teaching children with ASD to ask questions, This research will test whether iPad leads to more learning than a traditional approach picture and text cards does. Two groups of children who use AAC will be taught to ask ‘What is it?’ questions. With the first group, low-tech AAC picture and text cards will be used, while an iPad-based AAC application called Proloquo2Go will be used with the second group. Interviews with teachers and parents will be conducted before and after the experiment. The children’s perspectives will also be considered. The initial outcomes of this research indicate that iPad can be an effective tool to help children with autism to ask questions.

Keywords: autism, communication, information, iPad, pictures, requesting

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Authors: Anam Naveed, Asma Andleeb, Mehreen Sirshar

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In the article, Image processing techniques have been applied on cardiac images for enhancing the image quality. Two types of methodologies considers for survey, invasive techniques and non-invasive techniques. Different image processes for improvement of cardiac image quality and reduce the amount of radiation exposure for invasive techniques are explored. Different image processing algorithms for enhancing the noninvasive cardiac image qualities are described. Beside these two methodologies, third methodology has applied on live streaming of heart rate on ECG window for extracting necessary information, removing noise and enhancing quality. Sensitivity analyses have been carried out to investigate the impacts of cardiac images for diagnosis of cardiac arteries disease and how the enhancement on images will help the cardiologist to diagnoses disease. The paper evaluates strengths and weaknesses of different techniques applied for improved the image quality and draw a conclusion. Some specific limitations must be considered for whole survey, like the patient heart beat must be 70-75 beats/minute while doing the angiography, similarly patient weight and exposure radiation amount has some limitation.

Keywords: cardiac images, CT angiography, critical analysis, exposure radiation, invasive techniques, invasive techniques, non-invasive techniques

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Authors: Hadeer R. M. Tawfik, Rania A. K. Birry, Amani A. Saad

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Eyes are considered to be the most sensitive and important organ for human being. Thus, any eye disorder will affect the patient in all aspects of life. Cataract is one of those eye disorders that lead to blindness if not treated correctly and quickly. This paper demonstrates a model for automatic detection, classification, and grading of cataracts based on image processing techniques and artificial intelligence. The proposed system is developed to ease the cataract diagnosis process for both ophthalmologists and patients. The wavelet transform combined with 2D Log Gabor Wavelet transform was used as feature extraction techniques for a dataset of 120 eye images followed by a classification process that classified the image set into three classes; normal, early, and advanced stage. A comparison between the two used classifiers, the support vector machine SVM and the artificial neural network ANN were done for the same dataset of 120 eye images. It was concluded that SVM gave better results than ANN. SVM success rate result was 96.8% accuracy where ANN success rate result was 92.3% accuracy.

Keywords: cataract, classification, detection, feature extraction, grading, log-gabor, neural networks, support vector machines, wavelet

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Authors: C. Arslan, K. Yakar

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Social media is one of the most important and effective means of social interaction among people in which they create, share and exchange their ideas via photos, videos or voice messages. Although there are lots of communication tools. Social media sites are the most prominent ones that allows the users articulate themselves in a matter of seconds all around the world with almost any expenses and thus, they became very popular and widespread after its emergence. As the usage of social media increases, it becomes an effective instrument in social matters. While it is possible to use social media to emphasize basic human rights and protest some failures of any government as in “Arab Spring”, it is also possible to spread propaganda and misinformation just to cause long lasting insurgency, upheaval, turmoil or disorder as an instrument of intervention to internal affairs and state sovereignty by some hostile groups or countries. It is certain that social media has positive effects on participation in democracies allowing people express themselves freely and limitlessly, but obviously, the misuse of it is very common and it is quite possible that even a five-minute-long video record can topple down a government or give a solid reason to a government to review its policies on some certain areas. As one of the most important and effective means of participation, social media presents some opportunities as well as risks. In this study, the place of social media for participation in democracies will be demonstrated under the light of opportunities and risks.

Keywords: social media, democracy, participation, risks, opportunities

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Authors: Mohamed E. Abdelrahamn, Mahmoud Aly Hassan, Mohamed Sarhan

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Subacromial impingement syndrome (SIS) is a common shoulder disorder. Patients often complain from a decrease in electromyography (EMG) activity of the rotator cuff muscles especially the supraspinatus muscle during glenohumeral elevation. Objective: The purpose of the study is to assess the effect of applying 50% of maximum voluntary contraction of hand grip strength on the EMG activity of the shoulder muscles in patients with SIS. Methods: Thirty male and female patients participated in this study. Their ages ranged from 25 to 40 years. EMG activity of supraspinatus muscle and middle deltoid muscle was assessed without and with applying 50% of maximum voluntary contraction (MVC). Results: A significant difference was found for both supraspinatus and middle deltoid muscles, indicating that the gripping resulted in increasing muscle activity. Conclusion: Applying 50% MVC of hand grip strength could increase the supraspinatus and middle deltoid muscles activity in patients of SIS. This might be useful in the development and monitoring of shoulder rehabilitation strategies.

Keywords: electromyography, supraspinatus muscle, deltoid muscle, subacromial impingement syndrome

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Authors: Hsiao-Yung Wang

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This paper aims to elaborate methodology of visual rhetoric with constant reference to Mikhail Bakhtin’s concept of “chronotope”. First, it attempts to outline Ronald Barthes, the most representative scholar of visual rhetoric and structuralism, perspective on visual rhetoric and its time-space category by referring to the concurrent word-image, the symbolic systematicity, the outer dialogicity. Second, an alternative approach is explored for grasping the dynamics and functions of visual rhetoric by articulating Mikhail Bakhtin’s concept of “chronotope.” Furthermore, that visual rhetorical consciousness could be identified as “the meaning parabola which projects from word to image,” “the symbolic system which proceeds from sequence to disorder,” “the ideological environment which struggles from the local to the global.” Last but not least, primary vision of the 2014 Taipei LGBT parade would be analyzed preliminarily to evaluate the effectiveness and persuasiveness embodied by specific visual rhetorical strategies. How Bakhtin’s concept of “chronotope” to explain the potential or possible ideological struggle deployed by visual rhetoric might be interpreted empirically and extensively.

Keywords: barthes, chronotope, Mikhail Bakhtin, Taipei LGBT parade, visual rhetoric

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Authors: Judy M. Obliosca, Olivia Vest, Sandra Poulos, Kelsi Smith, Tammy Ferguson, Abigail Powers Lott, Alicia K. Smith, Yang Xu, Christopher K. Tison

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Post-Traumatic Stress Disorder (PTSD) is a mental health problem that people may develop after experiencing traumatic events such as combat, natural disasters, and major emotional challenges. Tragically, the number of military personnel with PTSD correlates directly with the number of veterans who attempt suicide, with the highest rate in the Army. Research has shown epigenetic risks in those who are prone to several psychiatric dysfunctions, particularly PTSD. Once initiated in response to trauma, epigenetic alterations in particular, the DNA methylation in the form of 5-methylcytosine (5mC) alters chromatin structure and represses gene expression. Current methods to detect DNA methylation, such as bisulfite-based genomic sequencing techniques, are laborious and have massive analysis workflow while still having high error rates. A faster and simpler detection method of high sensitivity and precision would be useful in a clinical setting to confirm potential PTSD etiologies, prevent other psychiatric disorders, and improve military health. A nano-enhanced Surface Plasmon Resonance imaging (SPRi)-based assay that simultaneously detects site-specific 5mC base (termed as PTSD base) in methylated genes related to PTSD is being developed. The arrays on a sensing chip were first constructed for parallel detection of PTSD bases using synthetic and genomic DNA (gDNA) samples. For the gDNA sample extracted from the whole blood of a PTSD patient, the sample was first digested using specific restriction enzymes, and fragments were denatured to obtain single-stranded methylated target genes (ssDNA). The resulting mixture of ssDNA was then injected into the assay platform, where targets were captured by specific DNA aptamer probes previously immobilized on the surface of a sensing chip. The PTSD bases in targets were detected by anti-5-methylcytosine antibody (anti-5mC), and the resulting signals were then enhanced by the universal nanoenhancer. Preliminary results showed successful detection of a PTSD base in a gDNA sample. Brighter spot images and higher delta values (control-subtracted reflectivity signal) relative to those of the control were observed. We also implemented the in-house surface activation system for detection and developed SPRi disposable chips. Multiplexed PTSD base detection of target methylated genes in blood DNA from PTSD patients of severity conditions (asymptomatic and severe) was conducted. This diagnostic capability being developed is a platform technology, and upon successful implementation for PTSD, it could be reconfigured for the study of a wide variety of neurological disorders such as traumatic brain injury, Alzheimer’s disease, schizophrenia, and Huntington's disease and can be extended to the analyses of other sample matrices such as urine and saliva.

Keywords: epigenetic assay, DNA methylation, PTSD, whole blood, multiplexing

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Authors: Louisa Han Lin Tan, Poh Sim Kang, Wei Ming Loi, Susan Jane Rickard Liow

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The efficacy of music for improving speech and language has been shown across ages and diagnoses. Across the world, the wide range of therapy settings and increasing number of children diagnosed with special needs demand more cost and time effective service delivery. However, research exploring co-treatment models on children other than those with Autism Spectrum Disorder remains sparse. The aim of this research was to determine the efficacy of music for improving language in children with special needs, and generalizability of therapy effects. 25 children (7 to 12 years) were split into three groups – A, B and control. A cross-over design with direct therapy (storytelling) with or without music, and indirect therapy was applied with two therapy phases lasting 6 sessions each. Therapy targeted three prepositions in each phase. Baseline language abilities were assessed, with re-assessment after each phase. The introduction of music in therapy led to significantly greater improvement (p=.046, r=.53) in associated language abilities, with case studies showing greater effectiveness in developmentally appropriate target prepositions. However, improvements were not maintained once direct therapy ceased. As such, the incorporation of music could lead to greater efficiency and effectiveness of language therapy in children with special needs, but sustainability and generalizability of therapy effects both require further exploration.

Keywords: music, language therapy, children, special needs

Procedia PDF Downloads 466