Search results for: attention deficits hyperactive disorder
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 5498

Search results for: attention deficits hyperactive disorder

4898 Cytogenetic Investigation of Patients with Disorder of Sexual Development Using G-Banding Karyotype and Fluorescence In situ Hybridization

Authors: Riksa Parikrama, Bremmy Laksono, Dadang S. H. Effendi

Abstract:

Disorder of sexual development (DSD) covers various conditions with a specific term such as Klinefelter syndrome, Turner syndrome, androgen insensitivity syndrome, and many more. The techniques to accurately diagnose those conditions has developed extensively. However, conventional karyotype and fluorescence in situ hybridization (FISH) are still widely used in many genetic laboratories as the basic method to determine chromosomal condition of DSD patients. Cytogenetic study was conducted on 36 DSD patients in Cell Culture and Cytogenetics Laboratory, Faculty of Medicine Universitas Padjadjaran, Indonesia. Most of the patients referred to the laboratory diagnosed with primary amenorrhea, hypospadias, micropenis, genitalia ambiguity, or congenital adrenal hyperplasia. The study used G-banding technique to acquire complete karyotype and followed by FISH as either confirmation or comparison method. Among 36 patients, G-banding karyotype and FISH results showed that two were diagnosed with 45, X (Turner syndrome); three with 47, XXY (Klinefelter syndrome); five with 46, XX DSD; 22 with 46, XY DSD; and four with 46,XY complete androgen insensitivity syndrome. G-banding karyotype analysis were paired with FISH using X and Y chromosome probe produced similar results. The present analysis showed that FISH is a reliable method to attain a rapid and accurate chromosome analysis result of DSD patients. Nevertheless, conventional karyotype technique is still vital if other condition appeared in DSD patients in order to get more detailed karyotype result which FISH method cannot achieve.

Keywords: chromosome, DSD, FISH, karyotype

Procedia PDF Downloads 226
4897 Evaluation of Triage Performance: Nurse Practice and Problem Classifications

Authors: Atefeh Abdollahi, Maryam Bahreini, Babak Choobi Anzali, Fatemeh Rasooli

Abstract:

Introduction: Triage becomes the main part of organization of care in Emergency department (ED)s. It is used to describe the sorting of patients for treatment priority in ED. The accurate triage of injured patients has reduced fatalities and improved resource usage. Besides, the nurses’ knowledge and skill are important factors in triage decision-making. The ability to define an appropriate triage level and their need for intervention is crucial to guide to a safe and effective emergency care. Methods: This is a prospective cross-sectional study designed for emergency nurses working in four public university hospitals. Five triage workshops have been conducted every three months for emergency nurses based on a standard triage Emergency Severity Index (ESI) IV slide set - approved by Iranian Ministry of Health. Most influential items on triage performance were discussed through brainstorming in workshops which then, were peer reviewed by five emergency physicians and two head registered nurses expert panel. These factors that might distract nurse’ attention from proper decisions included patients’ past medical diseases, the natural tricks of triage and system failure. After permission had been taken, emergency nurses participated in the study and were given the structured questionnaire. Data were analysed by SPSS 21.0. Results: 92 emergency nurses enrolled in the study. 30 % of nurses reported the past history of chronic disease as the most influential confounding factor to ascertain triage level, other important factors were the history of prior admission, past history of myocardial infarction and heart failure to be 20, 17 and 11 %, respectively. Regarding the concept of difficulties in triage practice, 54.3 % reported that the discussion with patients and family members was difficult and 8.7 % declared that it is hard to stay in a single triage room whole day. Among the participants, 45.7 and 26.1 % evaluated the triage workshops as moderately and highly effective, respectively. 56.5 % reported overcrowding as the most important system-based difficulty. Nurses were mainly doubtful to differentiate between the triage levels 2 and 3 according to the ESI VI system. No significant correlation was found between the work record of nurses in triage and the uncertainty in determining the triage level and difficulties. Conclusion: The work record of nurses hardly seemed to be effective on the triage problems and issues. To correct the deficits, training workshops should be carried out, followed by continuous refresher training and supportive supervision.

Keywords: assessment, education, nurse, triage

Procedia PDF Downloads 233
4896 The Importance of Mental Health Literacy: Interventions in a Psychiatry Service of Hospital José Joaquim Fernandes, Portugal

Authors: Mariana Mangas, Yaroslava Martins, Ana Charraz, Ana Matos Pires

Abstract:

Introduction: Health literacy empowers people of knowledge, motivation and skills to access, understand, evaluate and mobilize information relating to health. Although the benefits of public knowledge of physical disease are widely accepted, knowledge about mental disorder has been compatibly neglected. Nowadays there is considerably evidence that literacy is of great importance for the promotion of health and prevention of mental illness. Objective: Disclosure the concept and importance of mental health literacy and introduce the literacy program of Psychiatry Service of Hospital José Joaquim Fernandes. Methodology: A search was conducted on PubMed, using keywords “literacy” and “mental health”. A description of mental health literacy interventions implemented on Psychiatry Service of Hospital José Joaquim Fernandes was performed, namely, psychoeducation programs for depression and bipolar disorder. Results and discussion: Health literacy enables patient to be able to actively participate in his treatment. The improving of mental health literacy can promote early identification of mental disorders, improve treatment results, increase the use of health services and allow the community to take action to achieve better mental health. Psychoeducation is very useful in improving the course of disease and in reducing the number of episodes and hospitalizations. Bipolar patients who received psychoeducation and pharmacotherapy have no relapses during the program and last year. Conclusion: Mental health literacy is not simply a matter of having knowledge, rather, it is knowledge linked to action which can benefit mental health.

Keywords: mental health, literacy, psychoeducation, knowledge, empowerment

Procedia PDF Downloads 547
4895 Previously Undescribed Cardiac Abnormalities in Two Unrelated Autistic Males with Causative Variants in CHD8

Authors: Mariia A. Parfenenko, Ilya S. Dantsev, Sergei V. Bochenkov, Natalia V. Vinogradova, Olga S. Groznova, Victoria Yu. Voinova

Abstract:

Introduction: Autism is the most common neurodevelopmental disorder. Autism is characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns and frequently co-occurs with epilepsy, intellectual disabilities, connective tissue disorders, and other conditions. CHD8 codes for chromodomain-helicase-DNA-binding protein 8 - a chromatin remodeler that regulates cellular proliferation and neurodevelopment in embryogenesis. CHD8 is one of the genes most frequently involved in autism. Patients and methods: 2 unrelated male patients, P3 and P12, aged 3 and 12 years old, underwent whole genome sequencing, which determined that they both had different likely pathogenic variants, both previously undescribed in literature. Sanger sequencing later determined that P12 inherited the variant from his affected mother. Results: P3 and P12 presented with autism, a developmental delay, ataxia, sleep disorders, overgrowth, and macrocephaly, as well as other clinical features typically present in patients with causative variants in CHD8. The mother of P12 also has autistic traits, as well as ataxia, hypotonia, sleep disorders, and other symptoms. However, P3 and P12 also have different cardiac abnormalities. P3 had signs of a repolarization disorder: a flattened T wave in the III and aVF derivations and a negative T wave in the V1-V2 derivations. He also had structural valve anomalies with associated regurgitation, local contractility impairment of the left ventricular, and diastolic dysfunction of the right ventricle. Meanwhile, P12 had Wolff-Parkinson-White syndrome and underwent radiofrequency ablation at the age of 2 years. At the time of observation, P12 had mild sinus arrhythmia and an incomplete right bundle branch block, as well as arterial hypertension. Discussion: Cardiac abnormalities were not previously reported in patients with causative variants in CHD8. The underlying mechanism for the formation of those abnormalities is currently unknown. However, the two hypotheses are either a disordered interaction with CHD7 – another chromodomain remodeler known to be directly involved in the cardiophenotype of CHARGE syndrome – a rare condition characterized by coloboma, heart defects and growth abnormalities, or the disrupted functioning of CHD8 as an A-Kinase Anchoring Protein, which are known to modulate cardiac function. Conclusion: We observed 2 unrelated autistic males with likely pathogenic variants in CHD8 that presented with typical symptoms of CHD8-related neurodevelopmental disorder, as well as cardiac abnormalities. Cardiac abnormalities have, until now, been considered uncharacteristic for patients with causative variants in CHD8. Further accumulation of data, including experimental evidence of the involvement of CHD8 in heart formation, will elucidate the mechanism underlying the cardiophenotype of those patients. Acknowledgements: Molecular genetic testing of the patients was made possible by the Charity Fund for medical and social genetic aid projects «Life Genome.»

Keywords: autism spectrum disorders, chromodomain-helicase-DNA-binding protein 8, neurodevelopmental disorder, cardio phenotype

Procedia PDF Downloads 86
4894 Approaches to Inducing Obsessional Stress in Obsessive-Compulsive Disorder (OCD): An Empirical Study with Patients Undergoing Transcranial Magnetic Stimulation (TMS) Therapy

Authors: Lucia Liu, Matthew Koziol

Abstract:

Obsessive-compulsive disorder (OCD), a long-lasting anxiety disorder involving recurrent, intrusive thoughts, affects over 2 million adults in the United States. Transcranial magnetic stimulation (TMS) stands out as a noninvasive, cutting-edge therapy that has been shown to reduce symptoms in patients with treatment-resistant OCD. The Food and Drug Administration (FDA) approved protocol pairs TMS sessions with individualized symptom provocation, aiming to improve the susceptibility of brain circuits to stimulation. However, limited standardization or guidance exists on how to conduct symptom provocation and which methods are most effective. This study aims to compare the effect of internal versus external techniques to induce obsessional stress in a clinical setting during TMS therapy. Two symptom provocation methods, (i) Asking patients thought-provoking questions about their obsessions (internal) and (ii) Requesting patients to perform obsession-related tasks (external), were employed in a crossover design with repeated measurement. Thirty-six treatments of NeuroStar TMS were administered to each of two patients over 8 weeks in an outpatient clinic. Patient One received 18 sessions of internal provocation followed by 18 sessions of external provocation, while Patient Two received 18 sessions of external provocation followed by 18 sessions of internal provocation. The primary outcome was the level of self-reported obsessional stress on a visual analog scale from 1 to 10. The secondary outcome was self-reported OCD severity, collected biweekly in a four-level Likert-scale (1 to 4) of bad, fair, good and excellent. Outcomes were compared and tested between provocation arms through repeated measures ANOVA, accounting for intra-patient correlations. Ages were 42 for Patient One (male, White) and 57 for Patient Two (male, White). Both patients had similar moderate symptoms at baseline, as determined through the Yale-Brown Obsessive Compulsive Scale (YBOCS). When comparing obsessional stress induced across the two arms of internal and external provocation methods, the mean (SD) was 6.03 (1.18) for internal and 4.01 (1.28) for external strategies (P=0.0019); ranges were 3 to 8 for internal and 2 to 8 for external strategies. Internal provocation yielded 5 (31.25%) bad, 6 (33.33%) fair, 3 (18.75%) good, and 2 (12.5%) excellent responses for OCD status, while external provocation yielded 5 (31.25%) bad, 9 (56.25%) fair, 1 (6.25%) good, and 1 (6.25%) excellent responses (P=0.58). Internal symptom provocation tactics had a significantly stronger impact on inducing obsessional stress and led to better OCD status (non-significant). This could be attributed to the fact that answering questions may prompt patients to reflect more on their lived experiences and struggles with OCD. In the future, clinical trials with larger sample sizes are warranted to validate this finding. Results support the increased integration of internal methods into structured provocation protocols, potentially reducing the time required for provocation and achieving greater treatment response to TMS.

Keywords: obsessive-compulsive disorder, transcranial magnetic stimulation, mental health, symptom provocation

Procedia PDF Downloads 57
4893 Autism: Impact on Cognitive, Social-Communication and Behavioural Development

Authors: Prachi Sharma, B. V. Ramkumar

Abstract:

In current days, autism is a well-known neurodevelopmental disorder that may restrict child development globally. Ignorance or delayed identification or incorrect diagnosis of autism is a major challenge in controlling such an incurable disorder. This may lead to various behavioural complications followed by mental illness in adulthood. Autism is an incurable disorder that is progressive and negatively affects our development globally. This may vary in degree in different skills. However, a deviation from the normal range creates a complex outcome in social and communication areas and restricts or deviates cognitive ability. The primary goal of the present research is to identify and understand the deviations in cognitive, social communication, and behaviour in children during their growing age, with a focus on autism. In this study, five children with mild autism were taken. All the children had achieved normal developmental milestones until the age of one year. The maximum age of observation of children’s development was four years to see the difference in their developmental rates in the areas of cognitive, social communication, and behaviour. The study is based on the parental report about their children from 1 year to 4 years. Videos and pictures of children during their development were also seen as a reference to verify information received by the parents of the children. This research is qualitative, with samples for which were selected using a purposive sampling technique. The data was collected from the OPD, NIEPID RC, NOIDA, India. The data was collected in the form of parental reports based on their observations about their kids. Videos were also seen to verify the information reported by the parents (just shown to verify the facts, not shared). In results, we observed a significant difference in the rate of development in all five children taken for this research. The children having mild autism, at present, showed variations in all three domains (cognitive, social communication, and behaviour). These variations were seen in terms of restricted development in global areas. The result revealed that typical features of ASD had created more cognitive restrictions as compared to the children having ASD features with hyperactivity. Behavioral problems were observed with different levels of severity in the children having ASD with hyperactivity, whereas children with typical ASD are found with some typical problem behaviours like head banging, body rocking, self-biting, etc., with different levels of severity. The social-communication area was observed as equally affected in all children, as no major difference was found in the information received from each parent.

Keywords: autism/ASD, behaviour, cognitive skill, hyperactivity, social-communication skill

Procedia PDF Downloads 37
4892 Mothers' Satisfaction with Emergency Care When Their Child Has an Autism Spectrum Disorder

Authors: Merav Ben Natan, Heba Igbarin, Arwa Watted

Abstract:

Introduction: The rising prevalence of autism spectrum disorders (ASD) has heightened the need to understand the challenges faced by children with ASD and their families in emergency departments (EDs). Children with ASD often experience additional health issues and heightened anxiety in the chaotic ED environment, which can impact their care and parental satisfaction. Purpose: This study aimed to examine factors identified by mothers as affecting their satisfaction with the care provided to their children in the ED, among mothers of children with ASD in comparison to mothers of children without ASD. Design and methods: In this correlational quantitative study, 128 Israeli mothers – 59 (46%) mothers of children with ASD and 69 (54%) of children without ASD - completed an online survey based on a Ministry of Health national survey of patient experience. Results: Mothers of children with ASD expressed lower satisfaction with the care provided. The difference was particularly evident concerning waiting times for examination of the child by nurses and physicians in the ED, whether the nurses were attentive and responsive to the mother's questions and concerns, whether the ED staff demonstrated coordination and cooperation with regard to medical care of the child, and whether work in the ED was conducted in an orderly and organized manner. The presence of communication difficulties in children predicted mothers' satisfaction with care. Conclusions: These findings suggest that certain needs of mothers and/or their children with ASD do not receive an appropriate response in the ED. Practice implications: It is important to raise the awareness of healthcare providers in EDs regarding the needs of children with ASD and their parents, especially children with communication difficulties. Strategies should be implemented to improve the experience of children with ASD and their parents in the ED.

Keywords: autism spectrum disorder, emergency department, parental satisfaction, healthcare challenges

Procedia PDF Downloads 27
4891 Apps Reduce the Cost of Construction

Authors: Ali Mohammadi

Abstract:

Every construction that is done, the most important part of attention for employers and contractors is its cost, and they always try to reduce costs so that they can compete in the market, so they estimate the cost of construction before starting their activities. The costs can be generally divided into four parts: the materials used, the equipment used, the manpower required, and the time required. In this article, we are trying to talk about the three items of equipment, manpower, and time, and examine how the use of apps can reduce the cost of construction, while due to various reasons, it has received less attention in the field of app design. Also, because we intend to use these apps in construction and they are used by engineers and experts, we define these apps as engineering apps because the idea of ​​their design must be by an engineer who works in that field. Also, considering that most engineers are familiar with programming during their studies, they can design the apps they need using simple programming software.

Keywords: layout, as-bilt, monitoring, maps

Procedia PDF Downloads 66
4890 A Comparison of Generation Dependent Brain Targeting Potential of(Poly Propylene Mine) Dendrimers

Authors: Nitin Dwivedi, Jigna Shah

Abstract:

Aim and objective of study: This article indicates a comparison among various generations of dendrimers, a dendrimer is a bioactive material has repetitively branched molecule and used for delivery of various therapeutic active agents. This debut report compares the effect various generations of PPI dendrimers for brain targeting and management of neurodegenerative disorders potential on single platform. This report involves the study of the various mechanism of synthesis ligand anchored various generations PPI dendrimers deliver the drug directly to the CNS, prove their effectiveness in the management of the various neurodegenerative disease. Material and Methods: The Memantine an anti-Alzheimer drug loaded in different generations (3.0G, 4.0G, and 5.0G) of PPI dendrimers which were synthesized were synthesized. The various studies investigate the effect of PPI dendrimers generation on different characteristic parameters i.e. synthesis procedure, drug loading, release behavior, hemolysis profile at different concentration, MRI study for determine the route drug from olfactory transfer, animal model study in vitro, as well as in vivo performance. The outcomes of the investigation indicate drug delivery benefit as well as superior biocompatibility of 4.0G PPI dendrimer over 3.0G and 5.0G dendrimer, respectively. Results and Conclusion: The above study indicate the superiority of in drug delivery system with maximum drug utilization and minimize the drug dose for neurodegenerative disorder over 5.0G PPI dendrimers. So, 4.0G PPI dendrimers are the safe formulations for the symptomatic treatment of the neurodegenerative disorder. The fifth-generation poly(propyleneimine) (PPI) dendrimers, inherent toxicity due to the presence of many peripheral cationic groups is the major issue that limits their applicability.

Keywords: Alzheimer disease, generation, memantine, PPI

Procedia PDF Downloads 667
4889 The Application of AI in Developing Assistive Technologies for Non-Verbal Individuals with Autism

Authors: Ferah Tesfaye Admasu

Abstract:

Autism Spectrum Disorder (ASD) often presents significant communication challenges, particularly for non-verbal individuals who struggle to express their needs and emotions effectively. Assistive technologies (AT) have emerged as vital tools in enhancing communication abilities for this population. Recent advancements in artificial intelligence (AI) hold the potential to revolutionize the design and functionality of these technologies. This study explores the application of AI in developing intelligent, adaptive, and user-centered assistive technologies for non-verbal individuals with autism. Through a review of current AI-driven tools, including speech-generating devices, predictive text systems, and emotion-recognition software, this research investigates how AI can bridge communication gaps, improve engagement, and support independence. Machine learning algorithms, natural language processing (NLP), and facial recognition technologies are examined as core components in creating more personalized and responsive communication aids. The study also discusses the challenges and ethical considerations involved in deploying AI-based AT, such as data privacy and the risk of over-reliance on technology. Findings suggest that integrating AI into assistive technologies can significantly enhance the quality of life for non-verbal individuals with autism, providing them with greater opportunities for social interaction and participation in daily activities. However, continued research and development are needed to ensure these technologies are accessible, affordable, and culturally sensitive.

Keywords: artificial intelligence, autism spectrum disorder, non-verbal communication, assistive technology, machine learning

Procedia PDF Downloads 19
4888 Expansion of Subjective Learning at Japanese Universities: Experiential Learning Based on Social Participation

Authors: Kumiko Inagaki

Abstract:

Qualitative changes to the undergraduate education have recently become the focus of attention in Japan. This is occurring against the backdrop of declining birthrate and increasing university enrollment, as well as drastic societal changes of advance toward globalization and a knowledge-based society. This paper describes the cases of Japanese universities that promoted various forms of experiential learning around the theme of social participation. The opportunity of learning through practical experience, where students turn their attention to social problems and take pains to consider means of resolving them, creates opportunities to demonstrate “human power” applicable to all sorts of activities the following graduation, thereby guaranteeing students’ continuous growth throughout their careers.

Keywords: career education, experiential learning, subjective learning, university education

Procedia PDF Downloads 310
4887 Phonological Encoding and Working Memory in Kannada Speaking Adults Who Stutter

Authors: Nirmal Sugathan, Santosh Maruthy

Abstract:

Background: A considerable number of studies have evidenced that phonological encoding (PE) and working memory (WM) skills operate differently in adults who stutter (AWS). In order to tap these skills, several paradigms have been employed such as phonological priming, phoneme monitoring, and nonword repetition tasks. This study, however, utilizes a word jumble paradigm to assess both PE and WM using different modalities and this may give a better understanding of phonological processing deficits in AWS. Aim: The present study investigated PE and WM abilities in conjunction with lexical access in AWS using jumbled words. The study also aimed at investigating the effect of increase in cognitive load on phonological processing in AWS by comparing the speech reaction time (SRT) and accuracy scores across various syllable lengths. Method: Participants were 11 AWS (Age range=19-26) and 11 adults who do not stutter (AWNS) (Age range=19-26) matched for age, gender and handedness. Stimuli: Ninety 3-, 4-, and 5-syllable jumbled words (JWs) (n=30 per syllable length category) constructed from Kannada words served as stimuli for jumbled word paradigm. In order to generate jumbled words (JWs), the syllables in the real words were randomly transpositioned. Procedures: To assess PE, the JWs were presently visually using DMDX software and for WM task, JWs were presented through auditory mode through headphones. The participants were asked to silently manipulate the jumbled words to form a Kannada real word and verbally respond once. The responses for both tasks were audio recorded using record function in DMDX software and the recorded responses were analyzed using PRAAT software to calculate the SRT. Results: SRT: Mann-Whitney test results demonstrated that AWS performed significantly slower on both tasks (p < 0.001) as indicated by increased SRT. Also, AWS presented with increased SRT on both the tasks in all syllable length conditions (p < 0.001). Effect of syllable length: Wilcoxon signed rank test was carried out revealed that, on task assessing PE, the SRT of 4syllable JWs were significantly higher in both AWS (Z= -2.93, p=.003) and AWNS (Z= -2.41, p=.003) when compared to 3-syllable words. However, the findings for 4- and 5-syllable words were not significant. Task Accuracy: The accuracy scores were calculated for three syllable length conditions for both PE and PM tasks and were compared across the groups using Mann-Whitney test. The results indicated that the accuracy scores of AWS were significantly below that of AWNS in all the three syllable conditions for both the tasks (p < 0.001). Conclusion: The above findings suggest that PE and WM skills are compromised in AWS as indicated by increased SRT. Also, AWS were progressively less accurate in descrambling JWs of increasing syllable length and this may be interpreted as, rather than existing as a uniform deficiency, PE and WM deficits emerge when the cognitive load is increased. AWNS exhibited increased SRT and increased accuracy for JWs of longer syllable length whereas AWS was not benefited from increasing the reaction time, thus AWS had to compromise for both SRT and accuracy while solving JWs of longer syllable length.

Keywords: adults who stutter, phonological ability, working memory, encoding, jumbled words

Procedia PDF Downloads 240
4886 The Relationship between Hot and Cool Executive Function and Theory of Mind in School-Aged Children with Autism Spectrum Disorder

Authors: Evangelia-Chrysanthi Kouklari, Stella Tsermentseli, Claire P. Monks

Abstract:

Executive function (EF) refers to a set of future-oriented and goal-directed cognitive skills that are crucial for problem solving and social behaviour, as well as the ability to organise oneself. It has been suggested that EF could be conceptualised as two distinct but interrelated constructs, one emotional (hot) and one cognitive (cool), as it facilitates both affective and cognitive regulation. Cool EF has been found to be strongly related to Theory of Mind (ToM) that is the ability to infer mental states, but research has not taken into account the association between hot EF and ToM in Autism Spectrum Disorder (ASD) to date. The present study investigates the associations between both hot and cool EF and ToM in school-aged children with ASD. This cross-sectional study assesses 79 school-aged children with ASD (7-15 years) and 91 controls matched for age and IQ, on tasks tapping cool EF (working memory, inhibition, planning), hot EF (effective decision making, delay discounting), and ToM (emotional understanding and false/no false belief). Significant group differences in each EF measure support a global executive dysfunction in ASD. Strong associations between hot EF and ToM in ASD are reported for the first time (i.e. ToM emotional understanding and delay discounting). These findings highlight that hot EF also makes a unique contribution to the developmental profile of ASD. Considering the role of both hot and cool EF in association with ToM in individuals with ASD may aid in gaining a greater understanding not just of how these complex multifaceted cognitive abilities relate to one another, but their joint role in the distinct developmental pathway followed in ASD.

Keywords: ASD, executive function, school age, theory of mind

Procedia PDF Downloads 291
4885 The Contemporary Issues of Quality Management: Relationship between Total Quality Management and Knowledge Management

Authors: Mehrnoosh Askarizadeh

Abstract:

To meet the challenges of the new global environment, companies have started paying great attention towards quality management as an integral part of their strategic business plans. The purpose of this article is to investigate the relationship between total quality management (TQM) and knowledge management (KM). Successful total quality management implementation throughout the organizations requires major changes in the main four aspects of knowledge management, namely: Creating, storage, sharing and application. Skill, knowledge and productivity are important factors in organization’s success and have important role. Therefore, TQM management system pays special attention to it. However, knowledge as the source is essential for organization’s survival. Our study points out how the quality management and knowledge management have been incorporated into each other for the development of the quality culture within the organization.

Keywords: knowledge management (KM), total quality management (TQM), organizational performance (OP), deming cycle

Procedia PDF Downloads 481
4884 Noise Pollution: An Emerging Threat to Urban Health

Authors: M. Sirajul Islam Molla

Abstract:

Noise pollution has been a continuous and an increasing threat to human health in urban population all over the world. The situation in Bangladesh particularly in major cities has been dangerously aggravating. Despite the government of Bangladesh have laws in its hand to curb the noise pollution the authority’s reluctance in enforcing it, is making the situation worse. We do not see any difference in some other major cities of the South Asian Regional Countries like Delhi and Kathmandu, both of the cities are facing the same situation like Dhaka. With the expansion of technology-based township all over the world, the noise pollution has been an emerging threat to urban health. The information for this review has been derived from websites of GOs, NGOs, peer-reviewed papers, seminars and symposia. The worse situation of noise pollution results in people’s irritation and protest, but in many cases, the protesters are facing the wrath of the polluters. Two such consequences in Bangladesh have resulted in killing the protesters by the polluters – one happened in Dhaka city and the other in a rural town. The law-enforcing agencies proactively do not attempt to impose the law. Noise pollution has been increasing so rapidly that it has become a burden on human health in urban populations. Prolonged exposure to higher noise causes mental stress, sleeplessness, high blood pressure, cardiac failure, respiratory disorder, miscarriage and breaks attention of students to their studies and also irritates their behavior. The noise pollution-caused mortality has also been increasing all over the world. Recommendations from the international conferences such as ICUH should be forwarded to the United Nations. The UN then should pass it on to the concerned countries. The UN should also keenly monitor if the countries have appropriate plan to curb noise pollution to meet the sustainable development goals.

Keywords: decibel, environment, noise, pollution

Procedia PDF Downloads 244
4883 Psychology Behind Aesthetic Rhinoplasty–Introducing the Term Sifon

Authors: Komal Saeed

Abstract:

Introduction: Rhinoplasty is considered one of the challenging aesthetic procedures. Psychosocial concerns motivate the urge for aesthetic procedures especially rhinoplasty. Males who fall in this category are designated as single, immature, male, over expectant and narcissistic (SIMON) in literature. As of yet, there is no term that depicts females showing similar characteristics. The purpose of this study is to evaluate the incidence of body dysmorphic disorder (BDD) in females seeking rhinoplasty and to introduce a term for such individuals. Materials and Methods: A prospective, questionnaire based, qualitative study was conducted in the Department Of Plastic Surgery between March 2018 and March 2020. 110 female candidates seeking aesthetic rhinoplasty were included in the study. BDD was evaluated using the Dysmorphic Concerns Questionnaire, DCQ. Data were analyzed using SPSS version 25 software and correlation between the groups was evaluated. Results: Out of 110 female subjects, 77.3% (n=85) were single, 16.4% (n=18) were married and 6.4% (n=7) were divorced. BDD was found in 41.8% (n=46) of the candidates, majority being single (n=41, 89.1%) and having educational status above diploma (n=39, 84.8%). There was a statistically higher percentage of young adults between 24 and 28 years (n=33, 71.7%) having BDD (p= 0.0001). Conclusion: Considering the high frequency of BDD among females seeking rhinoplasty, a standardized term ‘SIFON’ is introduced to describe such individuals who are S; single, I; immature, F; female, O; over expectant, N; narcissistic as apposed to SIMON in males. These individuals perceive aesthetic procedures as a solution to their body dissatisfaction. Therefore, preoperative counseling seems necessary to avoid unsatisfactory outcomes secondary to mental health.

Keywords: aesthetic rhinoplasty, body dismorphic disorder, single, immature, obsessive

Procedia PDF Downloads 99
4882 Aeronautical Noise Management inside an Aerodrome: Analysis of Sound Exposure on Aviation Professional’s Health

Authors: Rafael Felipe Guatura da Silva, José Luis Gomes da Silva, Luiz Antonio, Ferreira Perrone de Brito

Abstract:

Noise can cause serious damage to human health, such as hearing loss, stress, irritability, fatigue, and others. Aviation is a place where your entire process should be work out with the utmost attention and commitment of human resources, thus the need to study the effects of noise in this sector, as aeronautical noise levels are high. This study aimed to evaluate the impact of noise pollution on the performance of professionals regarding the fatigue generated by aeronautical noise and time to noise exposure. The methodology used consists of measurements of sound pressure levels at 42 points of the aerodrome. The selected points are located inside the hangars and outside the airfield hangars. All points chosen are close to the professionals' work areas, seeking to identify the sound pressure levels to which they submitted. The other part of the research used the principle on the application of a self-report questionnaire to a sample of 207 people working inside the aerodrome. The 207 professionals surveyed consist of aircraft mechanics, pilots, maintenance managers, and administrative professionals. The questionnaire was intended to evaluate the knowledge that professionals have about health risks caused by sound exposure as well as to identify diseases that professionals have, and that may be associated with exposure to high levels of sound pressure. Preliminary results identify points with sound pressure levels of up to 91.7 dB, thus highlighting the need for the use of personal protective equipment that reduces noise exposure. It was also identified a large number of professionals who are bothered by the sound exposure and approximately 25% of professionals interviewed reported having a hearing disorder.

Keywords: aeronautical noise, fatigue, noise and health, noise management

Procedia PDF Downloads 147
4881 The Relationship between Self-Injurious Behavior and Manner of Death

Authors: Sait Ozsoy, Hacer Yasar Teke, Mustafa Dalgic, Cetin Ketenci, Ertugrul Gok, Kenan Karbeyaz, Azem Irez, Mesut Akyol

Abstract:

Self-mutilating behavior or self-injury behavior (SIB) is defined as: intentional harm to one’s body without intends to commit suicide”. SIB cases are commonly seen in psychiatry and forensic medicine practices. Despite variety of SIB methods, cuts in the skin is the most common (70-97%) injury in this group of patients. Subjects with SIB have one or more other comorbidities which include depression, anxiety, depersonalization, and feeling of worthlessness, borderline personality disorder, antisocial behaviors, and histrionic personality. These individuals feel a high level of hostility towards themselves and their surroundings. Researches have also revealed a strong relationship between antisocial personality disorder, criminal behavior, and SIB. This study has retrospectively evaluated 6,599 autopsy cases performed at forensic medicine institutes of six major cities (Ankara, Izmir, Diyarbakir, Erzurum, Trabzon, Eskisehir) of Turkey in 2013. The study group consisted of all cases with SIB findings (psychopathic cuts, cigarette burns, scars, and etc.). The relationship between causes of death in the study group (SIB subjects) and the control group was investigated. The control group was created from subjects without signs of SIB. Mann-Whitney U test was used for age variables and Chi-square test for categorical variables. Multinomial logistic regression analysis was used in order to analyze group differences in respect to manner of death (natural, accident, homicide, suicide) and analysis of risk factors associated with each group was determined by the Binomial logistic regression analysis. This study used SPSS statistics 15.0 for all its statistical and calculation needs. The statistical significance was p <0.05. There was no significant difference between accidental and natural death among the groups (p=0.737). Also there was a unit increase in number of cuts in psychopathic group while number of accidental death decreased (95% CI: 0.941-0.993) by 0.967 times (p=0.015). In contrast, there was a significant difference between suicidal and natural death (p<0.001), and also between homicidal and natural death (p=0.025). SIB is often seen with borderline and antisocial personality disorder but may be associated with many psychiatric illnesses. Studies have shown a relationship between antisocial personality disorders with criminal behavior and SIB with suicidal behavior. In our study, rate of suicide, murder and intoxication was higher compared to the control group. It could be concluded that SIB can be used as a predictor of possibility of one’s harm to him/herself and other people.

Keywords: autopsy, cause of death, forensic science, self-injury behaviour

Procedia PDF Downloads 510
4880 The Association between Masculinity and Anxiety in Canadian Men

Authors: Nikk Leavitt, Peter Kellett, Cheryl Currie, Richard Larouche

Abstract:

Background: Masculinity has been associated with poor mental health outcomes in adult men and is colloquially referred to as toxic. Masculinity is traditionally measured using the Male Role Norms Inventory, which examines behaviors that may be common in men but that are themselves associated with poor mental health regardless of gender (e.g., aggressiveness). The purpose of this study was to examine if masculinity is associated with generalized anxiety among men using this inventory vs. a man’s personal definition of it. Method: An online survey collected data from 1,200 men aged 18-65 across Canada in July 2022. Masculinity was measured using: 1) the Male Role Norms Inventory Short Form and 2) by asking men to self-define what being masculine means. Men were then asked to rate the extent they perceived themselves to be masculine on a scale of 1 to 10 based on their definition of the construct. Generalized anxiety disorder was measured using the GAD-7. Multiple linear regression was used to examine associations between each masculinity score and anxiety score, adjusting for confounders. Results: The masculinity score measured using the inventory was positively associated with increased anxiety scores among men (β = 0.02, p < 0.01). Masculinity subscales most strongly correlated with higher anxiety were restrictive emotionality (β = 0.29, p < 0.01) and dominance (β = 0.30, p < 0.01). When traditional masculinity was replaced by a man’s self-rated masculinity score in the model, the reverse association was found, with increasing masculinity resulting in a significantly reduced anxiety score (β = -0.13, p = 0.04). Discussion: These findings highlight the need to revisit the ways in which masculinity is defined and operationalized in research to better understand its impacts on men’s mental health. The findings also highlight the importance of allowing participants to self-define gender-based constructs, given they are fluid and socially constructed.

Keywords: masculinity, generalized anxiety disorder, race, intersectionality

Procedia PDF Downloads 71
4879 Neurodiversity in Post Graduate Medical Education: A Rapid Solution to Faculty Development

Authors: Sana Fatima, Paul Sadler, Jon Cooper, David Mendel, Ayesha Jameel

Abstract:

Background: Neurodiversity refers to intrinsic differences between human minds and encompasses dyspraxia, dyslexia, attention deficit hyperactivity disorder, dyscalculia, autism spectrum disorder, and Tourette syndrome. There is increasing recognition of neurodiversity in relation to disability/diversity in medical education and the associated impact on training, career progression, and personal and professional wellbeing. In addition, documented and anecdotal evidence suggests that medical educators and training providers in all four nations (UK) are increasingly concerned about understanding neurodiversity and identifying and providing support for neurodivergent trainees. Summary of Work: A national Neurodiversity Task and Finish group were established to survey Health Education England local office Professional Support teams about insights into infrastructure, training for educators, triggers for assessment, resources, and intervention protocols. This group drew from educational leadership, professional and personal neurodiverse expertise, occupational medicine, employer human resource, and trainees. An online, exploratory survey was conducted to gather insights from supervisors and trainers across England using the Professional Support Units' platform. Summary of Results: This survey highlighted marked heterogeneity in the identification, assessment, and approaches to support and management of neurodivergent trainees and highlighted a 'deficit' approach to neurodiversity. It also demonstrated a paucity of educational and protocol resources for educators and supervisors in supporting neurodivergent trainees. Discussions and Conclusions: In phase one, we focused on faculty development. An educational repository for all supervising trainees using a thematic approach was formalised. This was guided by our survey findings specific for neurodiversity and took a triple 'A' approach: awareness, assessment, and action. This is further supported by video material incorporating stories in training as well as mobile workshops for trainers for more immersive learning. The subtle theme from both the survey and Task and finish group suggested a move away from deficit-focused methods toward a positive holistic, interdisciplinary approach within a biopsychosocial framework. Contributions: 1. Faculty Knowledge and basic understanding of neurodiversity are key to supporting trainees with known or underlying Neurodiverse conditions. This is further complicated by challenges around non-disclosure, varied presentations, stigma, and intersectionality. 2. There is national (and international) inconsistency in the approach to how trainees are managed once a neurodiverse condition is suspected or diagnosed. 3. A carefully constituted and focussed Task and Finish group can rapidly identify national inconsistencies in neurodiversity and implement rapid educational interventions. 4. Nuanced findings from surveys and discussion can reframe the approach to neurodiversity; from a medical model to a more comprehensive, asset-based, biopsychosocial model of support, fostering a cultural shift, accepting 'diversity' in all its manifestations, visible and hidden.

Keywords: neurodiversity, professional support, human considerations, workplace wellbeing

Procedia PDF Downloads 91
4878 Social Media Factor in Security Environment

Authors: Cetin Arslan, Senol Tayan

Abstract:

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 democracies letting people have chance to express themselves and to organize, but it is also obvious that the misuse of it, is very common that even a five-minute-long video can cause to wage a campaign against a country. Although it looks anti-democratic, when you consider the catastrophic effects of misuse of social media, it is a kind of area that serious precautions are to be taken without limiting democratic rights while allowing constant and perpetual share but preventing the criminal events. This article begins with the current developments in social media and gives some examples on misuse of it. Second part tries to put emphasize on the legal basis that can prevent criminal activities and the upheavals and insurgencies against state security. Last part makes comparison between democratic countries and international organizations’’ actions against such activities and proposes some further actions that are compatible with democratic norms.

Keywords: democracy, disorder, security, Social Media

Procedia PDF Downloads 366
4877 The Shannon Entropy and Multifractional Markets

Authors: Massimiliano Frezza, Sergio Bianchi, Augusto Pianese

Abstract:

Introduced by Shannon in 1948 in the field of information theory as the average rate at which information is produced by a stochastic set of data, the concept of entropy has gained much attention as a measure of uncertainty and unpredictability associated with a dynamical system, eventually depicted by a stochastic process. In particular, the Shannon entropy measures the degree of order/disorder of a given signal and provides useful information about the underlying dynamical process. It has found widespread application in a variety of fields, such as, for example, cryptography, statistical physics and finance. In this regard, many contributions have employed different measures of entropy in an attempt to characterize the financial time series in terms of market efficiency, market crashes and/or financial crises. The Shannon entropy has also been considered as a measure of the risk of a portfolio or as a tool in asset pricing. This work investigates the theoretical link between the Shannon entropy and the multifractional Brownian motion (mBm), stochastic process which recently is the focus of a renewed interest in finance as a driving model of stochastic volatility. In particular, after exploring the current state of research in this area and highlighting some of the key results and open questions that remain, we show a well-defined relationship between the Shannon (log)entropy and the memory function H(t) of the mBm. In details, we allow both the length of time series and time scale to change over analysis to study how the relation modify itself. On the one hand, applications are developed after generating surrogates of mBm trajectories based on different memory functions; on the other hand, an empirical analysis of several international stock indexes, which confirms the previous results, concludes the work.

Keywords: Shannon entropy, multifractional Brownian motion, Hurst–Holder exponent, stock indexes

Procedia PDF Downloads 110
4876 Research on Internet Attention of Tourism and Marketing Strategy in Northeast Sichuan Economic Zone in China Based on Baidu Index

Authors: Chuanqiao Zheng, Wei Zeng, Haozhen Lin

Abstract:

As of March 2020, the number of Chinese netizens has reached 904 million. The proportion of Internet users accessing the Internet through mobile phones is as high as 99.3%. Under the background of 'Internet +', tourists have a stronger sense of independence in the choice of tourism destinations and tourism products. Tourists are more inclined to learn about the relevant information on tourism destinations and other tourists' evaluations of tourist products through the Internet. The search engine, as an integrated platform that contains a wealth of information, is highly valuable to the analysis of the characteristics of the Internet attention given to various tourism destinations, through big data mining and analysis. This article uses the Baidu Index as the data source, which is one of the products of Baidu Search. The Baidu Index is based on big data, which collects and shares the search results of a large number of Internet users on the Baidu search engine. The big data used in this article includes search index, demand map, population profile, etc. The main research methods used are: (1) based on the search index, analyzing the Internet attention given to the tourism in five cities in Northeast Sichuan at different times, so as to obtain the overall trend and individual characteristics of tourism development in the region; (2) based on the demand map and the population profile, analyzing the demographic characteristics and market positioning of the tourist groups in these cities to understand the characteristics and needs of the target groups; (3) correlating the Internet attention data with the permanent population of each province in China in the corresponding to construct the Boston matrix of the Internet attention rate of the Northeast Sichuan tourism, obtain the tourism target markets, and then propose development strategies for different markets. The study has found that: a) the Internet attention given to the tourism in the region can be categorized into tourist off-season and peak season; the Internet attention given to tourism in different cities is quite different. b) tourists look for information including tour guide information, ticket information, traffic information, weather information, and information on the competing tourism cities; with regard to the population profile, the main group of potential tourists searching for the keywords of tourism in the five prefecture-level cities in Northeast Sichuan are youth. The male to female ratio is about 6 to 4, with males being predominant. c) through the construction of the Boston matrix, it is concluded that the star market for tourism in the Northeast Sichuan Economic Zone includes Sichuan and Shaanxi; the cash cows market includes Hainan and Ningxia; the question market includes Jiangsu and Shanghai; the dog market includes Hubei and Jiangxi. The study concludes with the following planning strategies and recommendations: i) creating a diversified business format that integrates cultural and tourism; ii) creating a brand image of niche tourism; iii) focusing on the development of tourism products; iv) innovating composite three-dimensional marketing channels.

Keywords: Baidu Index, big data, internet attention, tourism

Procedia PDF Downloads 123
4875 Teaching Children With Differential Learning Needs By Understanding Their Talents And Interests

Authors: Eunice Tan

Abstract:

The purpose of this presentation is to look at an alternative to the approach and methodologies of working with special needs. The strength-based approach to education embodies a paradigm shift. It is a strategy to move away from a deficit-based methodology which inadvertently may lead to an extensive list of things that the child cannot do or is unable to do. Today, many parents of individuals with special needs are focused on the child’s deficits rather than on his or her strengths. Even when parents Recognise and identify their child’s strengths to be valuable and wish to develop their abilities, they face the challenge that there are insufficient programs committed to supporting the development and improvement of such abilities. What is a strength-based approach in education? A strength-based approach in education focuses on students' positive qualities and contributions to class instead of the skills and abilities they may not have. Many schools are focused on the child’s special educational needs rather than the whole child. Parents interviewed have said that they have to engage external tutors to help hone in on their child’s interests and strengths.

Keywords: differential learning needs, special needs, instructional style, talents

Procedia PDF Downloads 197
4874 Hub Traveler Guidance Signage Evaluation via Panoramic Visualization Using Entropy Weight Method and TOPSIS

Authors: Si-yang Zhang, Chi Zhao

Abstract:

Comprehensive transportation hubs are important nodes of the transportation network, and their internal signage the functions as guidance and distribution assistance, which directly affects the operational efficiency of traffic in and around the hubs. Reasonably installed signage effectively attracts the visual focus of travelers and improves wayfinding efficiency. Among the elements of signage, the visual guidance effect is the key factor affecting the information conveyance, whom should be evaluated during design and optimization process. However, existing evaluation methods mostly focus on the layout, and are not able to fully understand if signage caters travelers’ need. This study conducted field investigations and developed panoramic videos for multiple transportation hubs in China, and designed survey accordingly. Human subjects are recruited to watch panoramic videos via virtual reality (VR) and respond to the surveys. In this paper, Pudong Airport and Xi'an North Railway Station were studied and compared as examples due to their high traveler volume and relatively well-developed traveler service systems. Visual attention was captured by eye tracker and subjective satisfaction ratings were collected through surveys. Entropy Weight Method (EWM) was utilized to evaluate the effectiveness of signage elements and Technique for Order Preference by Similarity to Ideal Solution (TOPSIS) was used to further rank the importance of the elements. The results show that the degree of visual attention of travelers significantly affects the evaluation results of guidance signage. Key factors affecting visual attention include accurate legibility, obstruction and defacement rates, informativeness, and whether signage is set up in a hierarchical manner.

Keywords: traveler guidance signage, panoramic video, visual attention, entropy weight method, TOPSIS

Procedia PDF Downloads 69
4873 Implementing Learner-Centered Teaching Approach In Iraqi Higher Education

Authors: Iman Ali Ahmed Al-Rashed

Abstract:

This paper directs attention to the limitations of the teacher-centered strategy in teaching. The aim of this study is to draw more educational attention to learner-centered strategy in order to shift the emphasis from the traditional concept of teaching to a new concept in teaching. To begin bridging the traditional concept of teaching and the new concept, the study will explore the new concept of teaching to support teaching in Arab World generally and in Iraq specifically. A qualitative case study orientation was used to collect data in the form of classroom observations, interviews and field notes. The teaching practices used by three university instructors are investigated and according to the findings, some explanations and recommendations are made.

Keywords: case study, learner-centered strategy, qualitative study, teacher-centered strategy, traditional teaching

Procedia PDF Downloads 548
4872 In the Eyes of Basilyo at Crispin: A Phenomenological Lived Experience of the Filipino Children of Parents with Mental Illness

Authors: Cely D. Magpantay, Geolynne Marie Adel, Cire-rine Mae Concepcion, Dessa Jean Orcajada, Jorgette Andrea Santos, Orian Laurace Canaman

Abstract:

Mental illness initiative is very relevant in promoting the Mental Health Bill act of 2017. In the Philippines alone, the public is more open and receptive to people at risks with a mental condition. Although it is uncommon that parents can become more psychologically unfit compared to their children, research shows that parents who are suffering from mental illness have a more significant negative effect than another family member. The impact of parent’s mental health can put their children more susceptible to acquire the same disorder. The aim of the study is to explore the lived experiences of children whose parents suffered from mental illness. It discusses how their parent's mental condition in, anyway, affects their psychological development. Using Phenomenological Qualitative Research, an in-depth, interview was conducted to five (5) consenting adults who lived with their parents diagnosed with a mental disorder. Results are clustered into four themes. The first theme is the negative emotion towards parents, the second theme is the psychosocial dynamics in caring for the patient, third is accepting the disease, and fourth is a general perspective on the family. Each themes is validated by experts and the participants. This theme generates subcomponent like isolation, shallow relationship and debt of gratitude. Along with these themes comes the fear of having a family emerged. There is a growing need to strengthen the family ties even more because of parent’s mental illness. Therefore, parental mental illness has an effect on the children’s psychological and social development.

Keywords: lived experience in Philippines, mental health, parental mental illness, psychosocial dynamics

Procedia PDF Downloads 315
4871 The Specificity of Mother's Attitude to a Preschool Child Having Complex Disorders: The Key to Adaptive Functioning

Authors: Alla Tvardovskaya

Abstract:

The family of a child with disabilities is an important mechanism of socialization. The relationship of mother and child with developmental difficulties is a significant predictor of the emergence, development and interiorization of various forms of mental activity. Complex impairments of the child form nonconstructive maternal attitude and destructive behavior strategies that complicate the dyadic relationship ‘mother-child’. The study of psychological characteristics of mother's personality was conducted within four years, and adaptive abilities of a child with a complex disorder were evaluated as well. 25 diads (25 mothers and 25 preschool children aged between 4-7 years with complex developmental disorders) took part in the study. Typological features of mothers rearing deafblind preschoolers are described. Constructive and non-constructive types of mothers’ attitude to a pre-school child with complex disorders are specified. The research shows that mothers of deafblind children are more depressed, they are engaged in children’s rearing more, and at the same time they experience difficulties to control negative emotions towards children or demonstrate impulsive behavior with a high level of anxiety. The correlation analysis of relationships between Vineland scales and the dominant type of mothers’ attitude to a child shows the presence of both general and specific links. Adaptive profile analysis of a child with complex disabilities allows to plan specific ways to increase their adaptation by developing a dyadic constructive relationship system. Techniques to develop constructive parental attitudes toward the child are proposed.

Keywords: adaptive behavior, complex disorder, constructive maternal attitude, deaf-blindness, pre-school child

Procedia PDF Downloads 265
4870 Alwadei Syndrome - A Genetic Cause Of Intellectual Disability

Authors: Mafalda Moreira, Diana Alba, Inês Paiva Ferreira, Rita Calejo, Ana Rita Soares, Leonilde Machado

Abstract:

Intellectual disability (ID) is characterized by deficits in intellectualfunctioningassociatedwithalterations in the adaptive behaviour, whose onset is inthedevelopmentalperiod. Itaffects 3% of the population, ofwhich 10% have a geneticaetiology. One of those causes isAlwadeiSyndrome, with 3 cases describedworldwide. It results from a homozygous nonsense mutation in theRUSC2 gene andisassociatedwithintellectualdisabilityanddysmorphic facialfeatures. Theauthorsreportthe case of a 5-year-old-boy, born to a healthymotherafter a full-termuneventfulpregnancy, thatwasreferred to Neurodevelopmentalconsultationdue toglobal developmentaldelay. Familyhistoryrevealedlearningdifficulties in the paternal brotherhood. Milddismorphicfeatureswereevidentsuch as darkinfraorbitalregion, low-set ears, beakednose, retrognathism, high-archedpalateandjointhyperlaxity. WechslerIntelligenceScale for Children III fullscaleIQ quoted 61. Karyotypeandchromosomalmicroarrayanalysiswerenormal, as well as the fragile X molecular study. DNA sequencingwasthenperformedandallowedtheidentificationof amutation in the RUSC2 gene. Theetiologicaldiagnosisof ID remains unknown in up to 80% of cases, creatinguncertainty in children’sfamilies. Theadvances in DNA sequencingtechnologieshaveincreasedourknowledgeofthegeneticdiseasesinvolved, as theAlwadeisyndromewasonlydescribedsince 2016. Thegeneticdiagnosisof ID allowsfamilygeneticcounselingandenablesthedevelopmentof target therapeutic approaches.

Keywords: intellectual disability, genetic aetiology, alwadei syndrome, RUSC2

Procedia PDF Downloads 179
4869 Variation in Youth and Family Experiences of System of Care Principles in Community Mental Health

Authors: James D. Beauchemin

Abstract:

This study tested whether youth mental health care quality, operationalized as the extent to which youth and families experienced system-of-care principles in service interactions with providers, varied by level of youth need after adjusting for sociodemographic and treatment factors. The relationship of quality to clinical outcomes was also examined. Using administrative data and cross-sectional surveys from a stratified random sample of 1,124 caregivers of youths ages 5 to 20 within a statewide system-of-care, adjusted analyses indicated youths with the most intensive needs were significantly less likely to experience high-quality care (51% vs. 63%, p=0.016), with marked deficits on 6 of 9 items. Receipt of lower-quality care predicted less improvement in youth functioning. Despite considerable effort to develop systems-of-care for youths with the most severe mental health needs, these data suggest quality disparities remain for the most impaired youths. Policy and intervention development may be needed to improve the quality of care for this population.

Keywords: system-of-care, adherence, mental health, youth

Procedia PDF Downloads 154