Search results for: somatic symptom disorder

Authors: Ilana Singer, Anastasia Lučić, Julie Leclerc

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Introduction: Tics, characterized by repetitive, sudden, non-voluntary motor movements or vocalizations, are prevalent in chronic tic disorder (CT) and Tourette Syndrome (TS). These neurodevelopmental disorders often coexist with various psychiatric conditions, leading to challenges and reduced quality of life. While medication in conjunction with behavioral interventions, such as Habit Reversal Training (HRT), Exposure Response Prevention (ERP), and Comprehensive Behavioral Intervention for Tics (CBIT), has shown efficacy, a significant proportion of patients experience persistent tics. Thus, innovative treatment approaches are necessary to improve therapeutic outcomes, such as mindfulness-based approaches. Nonetheless, the effectiveness of mindfulness-based interventions in the context of CT and TS remains understudied. Objective: The objective of this scoping review is to provide an overview of the current state of research on mindfulness-based interventions for CT and TS, identify knowledge and evidence gaps, discuss the effectiveness of mindfulness-based interventions with other treatment options, and discuss implications for clinical practice and policy development. Method: Using guidelines from Peters (2020) and the PRISMA-ScR, a scoping review was conducted. Multiple electronic databases were searched from inception until June 2023, including MEDLINE, EMBASE, PsychInfo, Global Health, PubMed, Web of Science, and Érudit. Inclusion criteria were applied to select relevant studies, and data extraction was independently performed by two reviewers. Results: Five papers were included in the study. Firstly, we found that mindfulness interventions were found to be effective in reducing anxiety and depression while enhancing overall well-being in individuals with tics. Furthermore, the review highlighted the potential role of mindfulness in enhancing functional connectivity within the Default Mode Network (DMN) as a compensatory function in TS patients. This suggests that mindfulness interventions may complement and support traditional therapeutic approaches, particularly HRT, by positively influencing brain networks associated with tic regulation and control. Conclusion: This scoping review contributes to the understanding of the effectiveness of mindfulness-based interventions in managing CT and TS. By identifying research gaps, this review can guide future investigations and interventions to improve outcomes for individuals with CT or TS. Overall, these findings emphasize the potential benefits of incorporating mindfulness-based interventions as a smaller subset within comprehensive treatment strategies. However, it is essential to acknowledge the limitations of this scoping review, such as the exclusion of a pre-established protocol and the limited number of studies available for inclusion. Further research and clinical exploration are necessary to better understand the specific mechanisms and optimal integration of mindfulness-based interventions with existing behavioral interventions for this population.

Keywords: scoping reviews, Tourette Syndrome, tics, mindfulness-based, therapy, intervention

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Authors: A. F. Jaber, E. Dean, M. Liu, J. He, D. Sabata, J. Radel

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Background: Stroke is a serious health care concern and a major cause of disability in the United States. This condition impacts the individual’s functional ability to perform daily activities. Predicting functional performance of people with stroke assists health care professionals in optimizing the delivery of health services to the affected individuals. The purpose of this study was to identify significant predictors of Motor FIM and of Cognitive FIM subscores among individuals with stroke after discharge from inpatient rehabilitation (typically 4-6 weeks after stroke onset). A second purpose is to explore the relation among personal characteristics, health status, and functional performance of daily activities within 2 weeks of stroke onset. Methods: This study used a retrospective chart review to conduct a secondary analysis of data obtained from the Healthcare Enterprise Repository for Ontological Narration (HERON) database. The HERON database integrates de-identified clinical data from seven different regional sources including hospital electronic medical record systems of the University of Kansas Health System. The initial HERON data extract encompassed 1192 records and the final sample consisted of 207 participants who were mostly white (74%) males (55%) with a diagnosis of ischemic stroke (77%). The outcome measures collected from HERON included performance scores on the National Institute of Health Stroke Scale (NIHSS), the Glasgow Coma Scale (GCS), and the Functional Independence Measure (FIM). The data analysis plan included descriptive statistics, Pearson correlation analysis, and Stepwise regression analysis. Results: significant predictors of discharge Motor FIM subscores included age, baseline Motor FIM subscores, discharge NIHSS scores, and comorbid electrolyte disorder (R2 = 0.57, p <0.026). Significant predictors of discharge Cognitive FIM subscores were age, baseline cognitive FIM subscores, client cooperative behavior, comorbid obesity, and the total number of comorbidities (R2 = 0.67, p <0.020). Functional performance on admission was significantly associated with age (p < 0.01), stroke severity (p < 0.01), and length of hospital stay (p < 0.05). Conclusions: our findings show that younger age, good motor and cognitive abilities on admission, mild stroke severity, fewer comorbidities, and positive client attitude all predict favorable functional outcomes after inpatient stroke rehabilitation. This study provides health care professionals with evidence to evaluate predictors of favorable functional outcomes early at stroke rehabilitation, to tailor individualized interventions based on their client’s anticipated prognosis, and to educate clients about the benefits of making lifestyle changes to improve their anticipated rate of functional recovery.

Keywords: functional performance, predictors, stroke, recovery

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Authors: Cristina Costescu, Carmen David, Adrian Roșan

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Executive functions (EF) and emotion regulation strategies are processes that allow individuals to function in an adaptative way and to be goal-oriented, which is essential for success in daily living activities, at school, or in social contexts. The Emotion Regulation and Executive Functioning Scale for Children and Adolescents (REMEX) represents an empirically based tool (based on the model of EF developed by Diamond) for evaluating significant dimensions of child and adolescent EFs and emotion regulation strategies, mainly in school contexts. The instrument measures the following dimensions: working memory, inhibition, cognitive flexibility, executive attention, planning, emotional control, and emotion regulation strategies. Building the instrument involved not only a top-down process, as we selected the content in accordance with prominent models of FE, but also a bottom-up one, as we were able to identify valid contexts in which FE and ER are put to use. For the construction of the instrument, we implemented three focus groups with teachers and other professionals since the aim was to develop an accurate, objective, and ecological instrument. We used the focus group method in order to address each dimension and to yield a bank of items to be further tested. Each dimension is addressed through a task that the examiner will apply and through several items derived from the main task. For the validation of the instrument, we plan to use item response theory (IRT), also known as the latent response theory, that attempts to explain the relationship between latent traits (unobservable cognitive processes) and their manifestations (i.e., observed outcomes, responses, or performance). REMEX represents an ecological scale that integrates a current scientific understanding of emotion regulation and EF and is directly applicable to school contexts, and it can be very useful for developing intervention protocols. We plan to test his convergent validity with the Childhood Executive Functioning Inventory (CHEXI) and Emotion Dysregulation Inventory (EDI) and divergent validity between a group of typically developing children and children with neurodevelopmental disorders, aged between 6 and 9 years old. In a previous pilot study, we enrolled a sample of 40 children with autism spectrum disorders and attention-deficit/hyperactivity disorder aged 6 to 12 years old, and we applied the above-mentioned scales (CHEXI and EDI). Our results showed that deficits in planning, bebavior regulation, inhibition, and working memory predict high levels of emotional reactivity, leading to emotional and behavioural problems. Considering previous results, we expect our findings to provide support for the validity and reliability of the REMEX version as an ecological instrument for assessing emotion regulation and EF in children and for key features of its uses in intervention protocols.

Keywords: executive functions, emotion regulation, children, item response theory, focus group

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Authors: Anastasia Schnitzer, Oliver Rehren

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Mental health has become an increasingly important topic in society in recent years, not least due to the challenges posed by the corona pandemic. Along with this, the public has become more and more aware that a lack of enlightenment and proper coping mechanisms may result in a notable risk to develop mental disorders. Yet, there are still many biases against those affected, which are further connected to issues of stigmatization and societal exclusion. One of the main strategies to combat these forms of prejudice and stigma is to induce intergroup contact. More specifically, the Intergroup Contact Theory states engaging in certain types of contact with members of marginalized groups may be an effective way to improve attitudes towards these groups. However, due to the persistent prejudice and stigmatization, affected individuals often do not dare to speak openly about their mental disorders, so that intergroup contact often goes unnoticed. As a result, many people only experience conscious contact with individuals with a mental disorder through media. As an analogy to the Intergroup Contact Theory, the Parasocial Contact Hypothesis proposes that repeatedly being exposed to positive media representations of outgroup members can lead to a reduction of negative prejudices and attitudes towards this outgroup. While there is a growing body of research on the merit of this mechanism, measurements often only consist of 'positive' or 'negative' parasocial contact conditions (or examine the valence or quality of the previous contact with the outgroup); meanwhile, more specific conditions are often neglected. The current study aims to tackle this shortcoming. By scrutinizing the potential of contemporary series as a narrative framework of high quality, we strive to elucidate more detailed aspects of beneficial parasocial contact -for the sake of reducing prejudice and stigma towards individuals with mental disorders. Thus, a two-factorial between-subject online panel study with three measurement points was conducted (N = 95). Participants were randomly assigned to one of two groups, having to watch episodes of either a series with a narrative framework of high (Quality-TV) or low quality (Continental-TV), with one-week interval in-between the episodes. Suitable series were determined with the help of a pretest. Prejudice and stigma towards people with mental disorders were measured at the beginning of the study, before and after each episode, and in a final follow-up one week after the last two episodes. Additionally, parasocial interaction (PSI), quality of contact (QoC), and transportation were measured several times. Based on these data, multivariate multilevel analyses were performed in R using the lavaan package. Latent growth models showed moderate to high increases in QoC and PSI as well as small to moderate decreases in stigma and prejudice over time. Multilevel path analysis with individual and group levels further revealed that a qualitative narrative framework leads to a higher quality of contact experience, which then leads to lower prejudice and stigma, with effects ranging from moderate to high.

Keywords: prejudice, quality of contact, parasocial contact, narrative framework

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Authors: P. Asiabi, M. Shahhoseini, R. Favaedi, F. Hassani, N. Nassiri, B. Movaghar, L. Karimian, P. Eftekhariyazdi

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Introduction: Polycystic Ovary Syndrome is a common gynecologic disorder. Many factors including environment, metabolism, hormones and genetics are involved in etiopathogenesis of PCOS. Of genes that have altered expression in human reproductive system disorders are HOX family genes which act as transcription factors in regulation of cell proliferation, differentiation, adhesion and migration. Since recent evidences consider epigenetic factors as causative mechanisms of PCOS, evaluation of association between known epigenetic marks of acetylation/methylation of histone 3 (H3K9ac/me) with regulatory regions of these genes can represent better insight about PCOS. In the current study, cumulus cells (CCs) which have critical roles during folliculogenesis, oocyte maturation, ovulation and fertilization were aimed to monitor epigenetic alterations of HOX genes. Material and methods: CCs were collected from 20 PCOS patients and 20 fertile women (18-36 year) with male infertility problems referred to the Royan Institute to have ICSI under GnRH antagonist protocol. Informed consents were obtained from the participants. Thirty six hours after hCG injection, ovaries were punctured and cumulus oocyte complexes were dissected. Soluble chromatin were extracted from CCs and Chromatin Immune precipitation (ChIP) coupled with Real Time PCR was performed to quantify the epigenetic marks of histone H3K9 acetylation/methylation (H3K9ac/me) on regulatory regions of 15 members of HOX genes from A-D subfamily. Results: Obtained data showed significant increase of H3K9ac epigenetic mark on regulatory regions of HOXA1, HOXB2, HOXC4, HOXD1, HOXD3 and HOXD4 (P < 0.01) and HOXC5 (P < 0.05) and also significant decrease of H3K9ac into regulatory regions of HOXA2, HOXA4, HOXA5, HOXB1 and HOXB5 (P < 0.01) and HOXB3 (P<0.05) in PCOS patients vs. control group. On the other side, there was a significant decrease in incorporation of H3K9me level on regulatory region of HOXA2, HOXA3, HOXA4, HOXA5, HOXB3 and HOXC4 (P≤0.01) and HOXB5 (P < 0.05) in PCOS patients vs. control group. This epigenetic mark (H3K9me2) has significant increase on regulatory region of HOXB1, HOXB2, HOXC5, HOXD1, HOXD3 and HOXD4 (P ≤ 0.01) and HOXB4 (P < 0.05) in patients vs. control group. There were no significant changes in acetylation/methylation levels of H3K9 on regulatory regions of the other studied genes. Conclusion: Current study suggests that epigenetic alterations of HOX genes can be correlated with PCOS and consequently female infertility. This finding might offer additional definitions of PCOS, and eventually provides insight for novel treatments with epidrugs for this disease.

Keywords: epigenetic, HOX genes, PCOS, female infertility

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Authors: Carolina Gheller Miguens

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Feeding is, and should be, pleasurable for living beings so they desire to nourish themselves while preserving the continuity of the species. Social rites usually revolve around the table and are closely linked to the cultural traditions of each region and social group. Since the beginning, food has been closely linked with the products each region provides, and, also, related to the respective seasons of production. With the globalization and facilities of modern life we are able to find an ever increasing variety of products at any time of the year on supermarket shelves. These lifestyle changes end up directly influencing food traditions. With the era of uncontrolled obesity caused by the dazzle with the large and varied supply of low-priced to ultra-processed industrial products now in the past, today we are living a time when people are putting aside the pleasure of eating to exclusively eat food dictated by the media as healthy. Recently the medicalization of food in our society has become so present in daily life that almost without realizing we make food choices conditioned to the studies of the properties of these foods. The fact that people are more attentive to their health is interesting. However, when this care becomes an obsessive disorder, which imposes itself on the pleasure of eating and extinguishes traditional customs, it becomes dangerous for our recognition as citizens belonging to a culture and society. This new way of living generates a rupture with the social environment of origin, possibly exposing old traditions to oblivion after two or three generations. Based on these facts, the presented study analyzes these social transformations that occur in our society that triggered the current medicalization of food. In order to clarify what is actually a healthy diet, this research proposes a critical analysis on the subject aiming to understand nutritional rationality and relate how it acts in the medicalization of food. A wide bibliographic review on the subject was carried out followed by an exploratory research in online (especially social) media, a relevant source in this context due to the perceived influence of such media in contemporary eating habits. Finally, this data was crossed, critically analyzing the current situation of the concept of healthy eating and medicalization of food. Throughout this research, it was noticed that people are increasingly seeking information about the nutritional properties of food, but instead of seeking the benefits of products that traditionally eat in their social environment, they incorporate external elements that often bring benefits similar to the food already consumed. This is because the access to information is directed by the media and exalts the exotic, since this arouses more interest of the population in general. Efforts must be made to clarify that traditional products are also healthy foods, rich in history, memory and tradition and cannot be replaced by a standardized diet little concerned with the construction of taste and pleasure, having a relationship with food as if it were a Medicinal product.

Keywords: food traditions, food transformations, healthy eating, medicalization of food

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Authors: Iris Xiaohong Quan, Sharon Qi, Kelly Tianqin Shi

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This study focuses on the critical role of insurance policies in a world grappling with increasing mental health challenges, as they significantly influence the dynamics of healthcare businesses and entrepreneurial ventures. The paper utilizes the mental health sector as a case to examine the impact of insurance policies on healthcare service providers, entrepreneurs, and individuals seeking mental health support. This paper addressed the following research questions: To what extent do changes in insurance reimbursement policies affect the accessibility and affordability of mental health services for patients, and how does this impact the overall demand for such services? What are the barriers and opportunities that mental health entrepreneurs face and what strategies and adaptations do mental health businesses employ when navigating the evolving landscape of insurance reimbursement policies? How do changes in insurance reimbursement policies, specifically related to mental health services, influence the financial viability and sustainability of mental health clinics and private practices? Employing a self-designed survey aimed at autism spectrum disorder (ASD) treatment companies, alongside two in-depth case studies and an analysis of pertinent insurance policies and documents, this research aims to elucidate the multifaceted influence of insurance policies on the mental health industry. The findings from this study reveal how insurance policies shape the landscape of mental health businesses and their operations. A total of 821 autism treatment organizations or offices were contacted by telephone between November 1, 2019, and January 31, 2020. About half of the offices (53.33%) were established in the past five years, and 80% were established in the past 15 years. There is a significant increase in the establishment of ABA service centers in the recent two decades as a result of autism insurance reform, the increasing social awareness of ASD, and the redefinition of autism. In addition, almost half of the ABA service providers we surveyed had a patient size ranging from 20 to 50 in the year when the residence state passed the legislation for autism insurance coverage. On average, an ABA service provider works with 5.3 insurance companies. This research find that insurance is the main source of revenue for most ABA service providers. However, our survey reveals that clients’ out of pocket payment has been the second main revenue sources. Despite the changes of regulations and insurance policies in all states, clients still have to pay a fraction of, if not all, the ABA treatment service fees out of pocket. This research shows that some ABA service providers seek federal and government funds and grants to support their services and businesses. Our further analysis with the in-depth case studies and other secondary data also indicate the rise of entrepreneurial startups in the mental health industry. Overall, this research sheds light on both the challenges and opportunities presented by insurance policies in the mental health sector, offering insights into the new industry landscape.

Keywords: entrepreneurship, healthcare policy, insurance policy, mental health industry

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Authors: Gyan Kashyap, Shri Kant Singh

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Improved mental health can be articulated as a good physical health and quality of life. Mental health plays an important role in survival of any one’s life. In today’s time people living with stress in life due to their personal matters, health problems, unemployment, work environment, living environment, substance use, life style and many more important reasons. Many studies confirmed that the significant proportion of mental health people increasing in India. This study is focused on mental well-being of male leather tannery workers in Kanpur city, India. Environment at work place as well as living environment plays an important health risk factors among leather tannery workers. Leather tannery workers are more susceptible to many chemicals and physical hazards, just because they are liable to be affected by their exposure to lots of hazardous materials and processes during tanning work in very hazardous work environment. The aim of this study to determine the level of mental health disorder and quality of life among male leather tannery and non-tannery workers in Kanpur city, India. This study utilized the primary data from the cross- sectional household study which was conducted from January to June, 2015 on tannery and non-tannery workers as a part of PhD program from the Jajmau area of Kanpur city, India. The sample of 286 tannery and 295 non-tannery workers has been collected from the study area. We have collected information from the workers of age group 15-70 those who were working at the time of survey for at least one year. This study utilized the general health questionnaire (GHQ-12) and work related stress scale to test the mental wellbeing of male tannery and non-tannery workers. By using GHQ-12 and work related stress scale, Polychoric factor analysis method has been used for best threshold and scoring. Some of important question like ‘How would you rate your overall quality of life’ on Likert scale to measure the quality of life, their earnings, education, family size, living condition, household assets, media exposure, health expenditure, treatment seeking behavior and food habits etc. Results from the study revealed that around one third of tannery workers had severe mental health problems then non-tannery workers. Mental health problem shown the statistically significant association with wealth quintile, 56 percent tannery workers had severe mental health problem those belong to medium wealth quintile. And 42 percent tannery workers had moderate mental health problem among those from the low wealth quintile. Work related stress scale found the statistically significant results for tannery workers. Large proportion of tannery and non-tannery workers reported they are unable to meet their basic needs from their earnings and living in worst condition. Important result from the study, tannery workers who were involved in beam house work in tannery (58%) had severe mental health problem. This study found the statistically significant association with tannery work and mental health problem among tannery workers.

Keywords: GHQ-12, mental well-being, factor analysis, quality of life, tannery workers

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Authors: Jaspinder Kaur, Jatinder Pal Singh

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Introduction- Delusional parasitosis is a rare psychotic illness characterized by a fixed belief of manifesting a parasite in a body when in reality, it was not. Also known as Ekbom syndrome or delusional infestations, or acarophobia. Although the patient has no primary skin pathology, but all skin findings were secondary to skin manipulation by the patient itself, which is why up to 90% of patients first seek consultation from a dermatologist. Most commonly, it was seen in older people with female to male ratio is 2:1. For treatment, the patient first need to be investigated to rule all other possible causes, as Delusional parasitosis can be caused by Vitamin B12 deficiency, pellagra, hepatic and renal disease, diabetes mellitus, multiple sclerosis, and leprosy. When all possible causes ruled out, psychiatric referral to be done. Rule out other psychiatric comorbidities, and treatment should be done accordingly. Patient with delusional parasitosis responds well to second generation antipsychotics and need to continuous medication over years, and relapse is likely if treatment is stopped. Case Presentation- A 79-year-old female, belonging to lower socio-economic status, presented with complaints of itching sensation with erythematous patches over the scalp and multiple scratch excoriations lesion over the scalp, face and neck from the past 7-8 months. She had a feeling of small insect crawling under her skin and scalp area. To reduce the itching and kill the insect, she would scratch and squeeze her skin repeatedly. When the family tried to give her explanation that there was no insect in her body, she would not get convinced, rather got angry and abuse family members for not believing her. Gradually, her sleep would remain disturbed, she would be seen awake at night, seen to be scratching her skin, pull her scalp hair, even squeeze out her healed lesions. She collected her skin debris, scalp hairs and look out for insect. Because of her continuous illness, the patient started to remain sad and had crying spells. Her appetite decreased. She became socially isolated and stopped doing her activities of daily living. Family member’s first consulted dermatologist, investigated thoroughly with routine investigations, autoimmune and malignancy workup. As all investigations were normal, following which patient was referred for psychiatric evaluation. The patient was started on Tablet Olanzapine 2.5 mg, gradually increased to 7.5 mg. Over 1 month, there was reduction in itching, skin pricking. Lesions were gradually healed, and the patient continued to take other dermatological medications and ointment and was in regular follow up with psychiatric liaison from past 2 months with 70-80 % improvement in her symptoms. Conclusion- Delusional parasitosis is a psychiatric disorder of insidious onset, seen commonly in middle and old age people. Both psychiatric and dermatology consultation liaison will help the patient for an early diagnosis and adequate treatment. If a primary psychiatric diagnosis, the patient respond well to second generation antipsychotics but always require a further evaluation and treatment management if it is secondary to some physical or other psychiatric comorbidity.

Keywords: delusional parasitosis, delusional infestations, rare, primary psychiatric diagnosis, antipsychotic agents

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Authors: Igor Guatelli

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The universe of aesthetic perception entails impasses about sensitive divergences that each text or visual object may be subjected to. If approached through intertextuality that is not based on the misleading notion of kinships or similarities a priori admissible, the possibility of anachronistic, heterogeneous - and non-diachronic - assemblies can enhance the emergence of interval movements, intermediate, and conflicting, conducive to a method of reading, interpreting, and assigning meaning that escapes the rigid antinomies of the mere being and non-being of things. In negative, they operate in a relationship built by the lack of an adjusted meaning set by their positive existences, with no remainders; the generated interval becomes the remnant of each of them; it is the opening that obscures the stable positions of each one. Without the negative of absence, of that which is always missing or must be missing in a text, concept, or image made positive by history, nothing is perceived beyond what has been already given. Pairings or binary oppositions cannot lead only to functional syntheses; on the contrary, methodological disturbances accumulated by the approximation of signs and entities can initiate a process of becoming as an opening to an unforeseen other, transformation until a moment when the difficulties of [re]conciliation become the mainstay of a future of that sign/entity, not envisioned a priori. A counter-history can emerge from these unprecedented, misadjusted approaches, beginnings of unassigned injunctions and disjunctions, in short, difficult alliances that open cracks in a supposedly cohesive history, chained in its apparent linearity with no remains, understood as a categorical historical imperative. Interstices are minority fields that, because of their opening, are capable of causing opacity in that which, apparently, presents itself with irreducible clarity. Resulting from an incomplete and maladjusted [at the least dual] marriage between the signs/entities that originate them, this interval may destabilize and cause disorder in these entities and their own meanings. The interstitials offer a hyphenated relationship: a simultaneous union and separation, a spacing between the entity’s identity and its otherness or, alterity. One and the other may no longer be seen without the crack or fissure that now separates them, uniting, by a space-time lapse. Ontological, semantic shifts are caused by this fissure, an absence between one and the other, one with and against the other. Based on an improbable approximation between some conceptual and semantic shifts within the design production of architect Rem Koolhaas and the textual production of the philosopher Jacques Derrida, this article questions the notion of unity, coherence, affinity, and complementarity in the process of construction of thought from these ontological, epistemological, and semiological fissures that rattle the signs/entities and their stable meanings. Fissures in a thought that is considered coherent, cohesive, formatted are the negativity that constitutes the interstices that allow us to move towards what still remains as non-identity, which allows us to begin another story.

Keywords: clearing, interstice, negative, remnant, spectrum

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Authors: Oli Sophie Meredith, Jacquelyn Osborne, Sarah Verdon, Jane Frawley

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PROJECT OVERVIEW AND BACKGROUND: Over one million Australians are affected by ADHD at an economic and social cost of over $20 billion per annum. Despite health outcomes being significantly worse compared with men, women have historically been overlooked in ADHD diagnosis and treatment. While research suggests physical activity and other non-prescription options can help with ADHD symptoms, the frontline response to ADHD remains expensive stimulant medications that can have adverse side effects. By interviewing women with ADHD, this research will examine women’s self-directed approaches to managing symptoms, including alternatives to prescription medications. It will investigate barriers and affordances to potentially helpful approaches and identify any concerning strategies pursued in lieu of diagnosis. SIGNIFICANCE AND INNOVATION: Despite the economic and societal impact of ADHD on women, research investigating how women manage their symptoms is scant. This project is significant because although women’s ADHD symptoms are markedly different to those of men, mainstream treatment has been based on the experiences of men. Further, it is thought that in developing nuanced coping strategies, women may have masked their symptoms. Thus, this project will highlight strategies which women deem effective in ‘thriving’ rather than just ‘hiding’. By investigating the health service use, self-care and physical activity of women with ADHD, this research aligns with a priority research areas as identified by the November 2023 senate ADHD inquiry report. APPROACH AND METHODS: Semi-structured interviews will be conducted with up to 20 women with ADHD. Interviews will be conducted in person and online to capture experience across rural and metropolitan Australia. Participants will be recruited in partnership with the peak representative body, ADHD Australia. The research will use an intersectional framework, and data will be analysed thematically. This project is led by an interdisciplinary and cross-institutional team of women with ADHD. Reflexive interviewing skills will be employed to help interviewees feel more comfortable disclosing their experiences, especially where they share common ground ENGAGEMENT, IMPACT AND BENEFIT: This research will benefit women with ADHD by increasing knowledge of strategies and alternative treatments to prescription medications, reducing the social and economic burden of ADHD on Australia and on individuals. It will also benefit women by identifying risks involved with some self-directed approaches in lieu of medical advice. The project has an accessible impact plan to directly benefit end-users, which includes the development of a podcast and a PDF resource translating findings. The resources will reach a wide audience through ADHD Australia’s extensive national networks. We will collaborate with Charles Sturt’s Accessibility and Inclusion Division of Safety, Security and Well-being to create a targeted resource for students with ADHD.

Keywords: ADHD, women's health, self-directed strategies, health service use, physical activity, public health

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Authors: Junaid Hamid Bhat

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Background: Musculoskeletal disorders are one of the main causes of occupational illness. Mechanisms and the factors like repetitive work, physical effort and posture, endangering the risk of musculoskeletal disorders would now appear to have been properly identified. Teacher’s exposure to work-related musculoskeletal disorders appears to be insufficiently described in the literature. Little research has investigated the prevalence and risk factors of musculoskeletal disorders in teaching profession. Very few studies are available in this regard and there are no studies evident in India. Purpose: To determine the prevalence of musculoskeletal disorders and to identify and measure the association of such risk factors responsible for developing musculoskeletal disorders among school teachers. Methodology: An observational cross sectional study was carried out. 500 school teachers from primary, middle, high and secondary schools were selected, based on eligibility criteria. A signed consent was obtained and a self-administered, validated questionnaire was used. Descriptive statistics was used to compute the statistical mean and standard deviation, frequency and percentage to estimate the prevalence of musculoskeletal disorders among school teachers. The data analysis was done by using SPSS version 16.0. Results: Results indicated higher pain prevalence (99.6%) among school teachers during the past 12 months. Neck pain (66.1%), low back pain (61.8%) and knee pain (32.0%) were the most prevalent musculoskeletal complaints of the subjects. Prevalence of shoulder pain was also found to be high among school teachers (25.9%). 52.0% subjects reported pain as disabling in nature, causing sleep disturbance (44.8%) and pain was found to be associated with work (87.5%). A significant association was found between musculoskeletal disorders and sick leaves/absenteeism. Conclusion: Work-related musculoskeletal disorders particularly neck pain, low back pain, and knee pain, is highly prevalent and risk factors are responsible for the development of same in school teachers. There is little awareness of musculoskeletal disorders among school teachers, due to work load and prolonged/static postures. Further research should concentrate on specific risk factors like repetitive movements, psychological stress, and ergonomic factors and should be carried out all over the country and the school teachers should be studied carefully over a period of time. Also, an ergonomic investigation is needed to decrease the work-related musculoskeletal disorder problems. Implication: Recall bias and self-reporting can be considered as limitations. Also, cause and effect inferences cannot be ascertained. Based on these results, it is important to disseminate general recommendations for prevention of work-related musculoskeletal disorders with regards to the suitability of furniture, equipment and work tools, environmental conditions, work organization and rest time to school teachers. School teachers in the early stage of their careers should try to adapt the ergonomically favorable position whilst performing their work for a safe and healthy life later. Employers should be educated on practical aspects of prevention to reduce musculoskeletal disorders, since changes in workplace and work organization and physical/recreational activities are required.

Keywords: work related musculoskeletal disorders, school teachers, risk factors funding, medical and health sciences

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Authors: John Farr Rothrock

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Although migraine traditionally has been assumed to convey a relative decrease in libido, sexual activity and sexual performance, recent data have suggested that the female migraine population is far from homogenous in this regard. We sought to determine the levels of libido, sexual activity and sexual performance in the female migraine patient population both generally and according to clinical phenotype. In this single-blind study, a consecutive series of sexually active new female patients ages 25-55 initially presenting to a university-based headache clinic and having a >1 year history of migraine were asked to complete anonymously a survey assessing their sexual histories generally and as they related to their headache disorder and the 19-item Female Sexual Function Index (FSFI). To serve as 2 separate control groups, 100 sexually active females with no history of migraine and 100 female migraineurs from the general (non-clinic) population but matched for age, marital status, educational background and socioeconomic status completed a similar survey. Over a period of 3 months, 188 consecutive migraine patients were invited to participate. Twenty declined, and 28 of the remaining 160 potential subjects failed to meet the inclusion criterion utilized for “sexually active” (ie, heterosexual intercourse at a frequency of > once per month in each of the preceding 6 months). In all groups younger age (p<.005), higher educational level attained (p<.05) and higher socioeconomic status (p<.025) correlated with a higher monthly frequency of intercourse and a higher likelihood of intercourse resulting in orgasm. Relative to the 100 control subjects with no history of migraine, the two migraine groups (total n=232) reported a lower monthly frequency of intercourse and recorded a lower FSFI score (both p<.025), but the contribution to this difference came primarily from the chronic migraine (CM) subgroup (n=92). Patients with low frequency episodic migraine (LFEM) and mid frequency episodic migraine (MFEM) reported a higher FSFI score, higher monthly frequency of intercourse, higher likelihood of intercourse resulting in orgasm and higher likelihood of multiple active sex partners than controls. All migraine subgroups reported a decreased likelihood of engaging in intercourse during an active migraine attack, but relative to the CM subgroup (8/92=9%), a higher proportion of patients in the LFEM (12/49=25%), MFEM (14/67=21%) and high frequency episodic migraine (HFEM: 6/14=43%) subgroups reported utilizing intercourse - and orgasm specifically - as a means of potentially terminating a migraine attack. In the clinic vs no-clinic groups there were no significant differences in the dependent variables assessed. Research subjects with LFEM and MFEM may report a level of libido, frequency of intercourse and likelihood of orgasm-associated intercourse that exceeds what is reported by age-matched controls free of migraine. Many patients with LFEM, MFEM and HFEM appear to utilize intercourse/orgasm as a means to potentially terminate an acute migraine attack.

Keywords: migraine, female, libido, sexual activity, phenotype

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Authors: Shashikant Iyengar, Jasmeet Kaur, Anup Singh, Arun Kumar, Ira Sahay

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Insulin resistance (IR) is a condition that occurs when cells in the body become less responsive to insulin, leading to higher levels of both insulin and glucose in the blood. This condition is linked to metabolic syndromes, including diabetes. It is crucial to address IR promptly after diagnosis to prevent long-term complications associated with high insulin and high blood glucose. This four-month case study highlights the importance of treating the underlying condition to manage diabetes effectively. Insulin is essential for regulating blood sugar levels by facilitating the uptake of glucose into cells for energy or storage. In IR individuals, cells are less efficient at taking up glucose from the blood resulting in elevated blood glucose levels. As a result of IR, beta cells produce more insulin to make up for the body's inability to use insulin effectively. This leads to high insulin levels, a condition known as hyperinsulinemia, which further impairs glucose metabolism and can contribute to various chronic diseases. In addition to regulating blood glucose, insulin has anti-catabolic effects, preventing the breakdown of molecules in the body, such as inhibiting glycogen breakdown in the liver, inhibiting gluconeogenesis, and inhibiting lipolysis. If a person is insulin-sensitive or metabolically healthy, an optimal level of insulin prevents fat cells from releasing fat and promotes the storage of glucose and fat in the body. Thus optimal insulin levels are crucial for maintaining energy balance and plays a key role in metabolic processes. During the four-month study, researchers looked at the impact of a low-carb dietary (LCD) intervention on two male individuals (A & B) who had Type-2 diabetes. Althoughvneither of these individuals were obese, they were both slightly overweight and had abdominal fat deposits. Before the trial began, important markers such as fasting blood glucose (FBG), triglycerides (TG), high-density lipoprotein (HDL) cholesterol, and Hba1c were measured. These markers are essential in defining metabolic health, their individual values and variability are integral in deciphering metabolic health. The ratio of TG to HDL is used as a surrogate marker for IR. This ratio has a high correlation with the prevalence of metabolic syndrome and with IR itself. It is a convenient measure because it can be calculated from a standard lipid profile and does not require more complex tests. In this four-month trial, an improvement in insulin sensitivity was observed through the ratio of TG/HDL, which, in turn, improves fasting blood glucose levels and HbA1c. For subject A, HbA1c dropped from 13 to 6.28, and for subject B, it dropped from 9.4 to 5.7. During the trial, neither of the subjects were taking any diabetic medications. The significant improvements in their health markers, such as better glucose control, along with an increase in energy levels, demonstrate that incorporating LCD interventions can effectively manage diabetes.

Keywords: metabolic disorder, insulin resistance, type-2 diabetes, low-carb nutrition

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Authors: Fengjuan Wang, Azilawati Jamaludin

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Developmental Dyscalculia (DD) is defined as a particular learning difficulty with continuous challenges in learning requisite math skills that cannot be explained by intellectual disability or educational deprivation. Recent studies have increasingly recognized that DD is a heterogeneous, instead of monolithic, learning disorder with not only cognitive and behavioral deficits but so too neural dysfunction. In recent years, neuroimaging studies employed group comparison to explore the neural underpinnings of DD, which contradicted the heterogenous nature of DD and may obfuscate critical individual differences. This research aimed to investigate the neural heterogeneity of DD using case studies with functional near-infrared spectroscopy (fNIRS). A total of 54 aged 6-7 years old of children participated in this study, comprising two comprehensive cognitive assessments, an 8-minute resting state, and an 8-minute one-digit addition task. Nine children met the criteria of DD and scored at or below 85 (i.e., the 16th percentile) on the Mathematics or Math Fluency subtest of the Wechsler Individual Achievement Test, Third Edition (WIAT-III) (both subtest scores were 90 and below). The remaining 45 children formed the typically developing (TD) group. Resting-state data and brain activation in the inferior frontal gyrus (IFG), superior frontal gyrus (SFG), and intraparietal sulcus (IPS) were collected for comparison between each case and the TD group. Graph theory was used to analyze the brain network under the resting state. This theory represents the brain network as a set of nodes--brain regions—and edges—pairwise interactions across areas to reveal the architectural organizations of the nervous network. Next, a single-case methodology developed by Crawford et al. in 2010 was used to compare each case’s brain network indicators and brain activation against 45 TD children’s average data. Results showed that three out of the nine DD children displayed significant deviation from TD children’s brain indicators. Case 1 had inefficient nodal network properties. Case 2 showed inefficient brain network properties and weaker activation in the IFG and IPS areas. Case 3 displayed inefficient brain network properties with no differences in activation patterns. As a rise above, the present study was able to distill differences in architectural organizations and brain activation of DD vis-à-vis TD children using fNIRS and single-case methodology. Although DD is regarded as a heterogeneous learning difficulty, it is noted that all three cases showed lower nodal efficiency in the brain network, which may be one of the neural sources of DD. Importantly, although the current “brain norm” established for the 45 children is tentative, the results from this study provide insights not only for future work in “developmental brain norm” with reliable brain indicators but so too the viability of single-case methodology, which could be used to detect differential brain indicators of DD children for early detection and interventions.

Keywords: brain activation, brain network, case study, developmental dyscalculia, functional near-infrared spectroscopy, graph theory, neural heterogeneity

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Authors: Beverly Wang

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Background: Rosai-Dorfman disease (RDD), aka sinus histiocytosis with massive lymphadenopathy, is a rare, idiopathic histiocytic proliferative disorder. Although RDD can be seen involving the head and neck lymph nodes, rarely it can affect other extranodal sites. It present 3 unique cases of RDD affecting the nasal cavity, paranasal sinuses, and ear canal. The initial clinical presentation on two cases mimicked a malignant neoplasm. The 3rd case of RDD co-existed with a cholesteatoma of the ear canal. The clinical presentation, histology and immunohistochemical stains, and radiographic findings are discussed. Design: An overview of 3 cases of RDD affected sinonasal cavity and ear canal from UCI Medical Center was conducted. Case 1: A 61 year old male complaining of breathing difficulty presented with bilateral polypoid sinonasal masses and severe nasal obstruction. The masses elevated the nasal floor, and involved the anterior nasal septum to lateral wall. It was endoscopically excised. At intraoperative consultation, frozen section reported a pleomorphic spindle cell neoplasm with scattered large atypical spindle cells, resembling a high grade sarcoma. Case 2: A 46 year old male presented with recurrent bilateral maxillary chronic sinusitis with mass formation, clinically suspicious for malignant lymphoma. Excisional tissue sample showed large irregular spindled histiocytes with abundant granular and vacuolated cytoplasm. Case 3: A 36 year old female with a history of asthma initially presented with left-sided chronic otalgia, occasional nausea, vertigo, and fluctuating pain exacerbated by head movement and temperature changes. CT scan revealed an external auditory canal mass extending to the middle ear, coexisting with a small cholesteatoma. Results: The morphology of all cases revealed large atypical spindled histiocytes resembling fibrohistiocytic or myofibroblastic proliferative neoplasms. Scattered emperipolesis was seen. All 3 cases were confirmed as extranodal sinus RDD, confirmed by immunohistochemistry. The large atypical cells were positive for S100, CD68, and CD163. No evidence for malignancy was identified. Case 3 showed concurrent RDD co-existing with a cholesteatoma. Conclusion: Due to its rarity and variable clinical presentations, the diagnosis of RDD is seldom clinically considered. Extranodal sinus RDD morphologically can be pitfall as mimicker of spindly neoplasm, especially at intraoperative consultation. It can create diagnostic and therapeutic challenges. Correlation of radiological findings with histologic features will help to reach the diagnosis.

Keywords: head and neck, extranodal, rosai-dorfman disease, mimicker, immunohistochemistry

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Authors: Prajwal Paudel, Shreeprasad Adhikari, Shailendra Bir Karmacharya, Kalpana Upadhyaya

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Background: Human milk banks have been recommended by the World Health Organization (WHO) for newborn and child nourishment in the provision of optimum nutrition as an alternative to breastfeeding in circumstances when direct breastfeeding is inaccessible. The vulnerable group of babies, mainly preterm, low birth weight, and sick newborns, are at a greater risk of mortality and possibly benefit from the safe use of donated human milk through milk banks. In this study, we aimed to shed light on the process involved during the setting up of the nation’s first milk bank and its vitality in small and sick newborn nutrition and care. Methods: The study was conducted in Paropakar Maternity and Women’s Hospital, where the first human milk (HMB) was established. The establishment involved a stepwise process of need assessment meeting, formation of the HMB committee, learning visit to HMB in India, studying the strengths and weaknesses of promoting breastfeeding and HMB system integration, procurement, installation, and setting up the infrastructure, and developing technical competency, launching of the HMB. After the initiation of HMB services, information regarding the recruited donor mothers and the volume of milk pasteurized and consumed by the needy recipient babies were recorded. Descriptive statistics with frequencies and percentages were used to describe the utilization of HMB services. Results: During the study period, a total of 506113 ml of milk was collected, while 49930 ml of milk was pasteurized. Of the pasteurized milk, 381248 ml of milk was dispensed. The total volume of milk received was from a total of 883 after proper routine screening tests. Similarly, the total number of babies who received the donated human milk (DHM) was 912 with different neonatal conditions. Among the babies who received DHM, 527(57.7%) were born via CS, and 385 (42.21%) were delivered normally. In the birth weight category,9 (1%) of the babies were less than 1000 grams, 75 (8.2%) were less than 1500 grams, 405 (44.4%) were between 1500 to less than 2500 grams whereas, 423 (46.4%) of the babies who received DHM were normal weight babies. Among the sick newborns, perinatal asphyxia accounted for 166 (18.2%), preterm with other complications 372 (40.7%), preterm 23 (2.02%), respiratory distress 140 (15.35%), neonatal jaundice 150 (16.44%), sepsis 94 (10.30%), meconium aspiration syndrome 9(1%), seizure disorder 28 (3.07%), congenital anomalies 13 (1.42%) and others 33(3. 61%). The neonatal mortality rate dropped to 6.2/1000 live births from 7.5/1000 live births in the first year of establishment as compared to the previous year. Conclusion: The establishment of the first HMB in Nepal involved a comprehensive approach to integrate a new system with the existing newborn care in the provision of safe DHM. Premature babies with complication, babies born via CS, perinatal asphyxia and babies with sepsis consumed the greater proportion of DHM. Rigorous research is warranted to assess the impact of DHM in small and sick newborn who otherwise would be fed formula milk.

Keywords: human milk bank, sick-newborn, mortality, neonatal nutrition

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Authors: Evija Silina, Maris Taube, Maksims Zolovs

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Background: Type 1 diabetes mellitus (T1D) is the most common chronic endocrine pathology in children. The management of type 1 diabetes requires a strong diet, physical activity, lifelong insulin therapy, and proper self-monitoring of blood glucose and is usually complicated and, therefore, may result in a variety of psychosocial problems for children, adolescents, and their families. Metabolic control of the disease is determined by glycated haemoglobin (HbA1c), the main criterion for diabetes compensation. A correlation was observed between anxiety and depression levels and glycaemic control in many previous studies. It is assumed that anxiety and depression symptoms negatively affect glycaemic control. Parental psychological distress was associated with higher child self-report of stress and depressive symptoms, and it had negative effects on diabetes management. Objective: The main objective of this paper is to evaluate the relationship between parental mental health conditions (depression and anxiety) and metabolic control of their adolescents with T1DM. Methods: This cross-sectional study recruited adolescents with T1D (N=251) and their parents (N=251). The respondents completed questionnaires. The 7-item Generalized Anxiety Disorder (GAD-7) scale measured anxiety level; The Patient Health Questionnaire – 9 (PHQ-9) measured depressive symptoms. Glycaemic control of patients was assessed using the last glycated haemoglobin (HbA1c) values. GLM mediation analysis was performed to determine the potential mediating effect of the parent’s mental health conditions (depression and anxiety) on the relationship between the mental health conditions (depression and anxiety) of a child on the level of glycated hemoglobin (HbA1c). To test the significance of the mediated effect (ME) for non-normally distributed data, bootstrapping procedures (10,000 bootstrapped samples) were used. Results: 502 respondents were eligible for screening to detect anxiety and depression symptoms. Mediation analysis was performed to assess the mediating role of parent GAD-7 on the linkage between a dependent variable (HbA1c) and independent variables (child GAD-7 un child PHQ-9). The results revealed that the total effect of child GAD-7 (B = 0.479, z = 4.30, p < 0.001) on HbA1c was significant but the total effect of child PHQ-9 (B = 0.166, z = 1.49, p = 0.135) was not significant. With the inclusion of the mediating variable (parent GAD-7), the impact of child GAD-7 on HbA1c was found insignificant (B = 0.113, z=0.98, p = 0.326), the impact of child PHQ-9 on HbA1c was found also insignificant (B = 0.068, z=0.74, p = 0.458). The indirect effect of child GAD-7 on HbA1c through parent GAD-7 was found significant (B = 0.366, z = 4.31, p < 0.001) and the indirect effect of child PHQ-9 on HbA1c through parent GAD-7 was found also significant (B = 0.098, z = 2.56, p = 0.010). This indicates that the relationship between a dependent variable (HbA1c) and independent variables (child GAD-7 un child PHQ-9) is fully mediated by parent GAD-7. Conclusion: The main result suggests that glycated haemoglobin in adolescents with Type 1 diabetes is related to adolescents’ mental health via parents’ anxiety. It means that parents’ anxiety plays a more significant role in the level of glycated haemoglobin in adolescents than depression and anxiety in the adolescent.

Keywords: type 1 diabetes, adolescents, parental diabetes-specific mental health conditions, glycated haemoglobin, anxiety, depression

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Authors: Lalanthica Yogendran, Manassa Hany, Saira Pasha, Benjamin Chaucer, Simarpreet Kaur, Christopher Janusz

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Children and adolescent patients visit the Psychiatric Emergency Department (ED) for multiple reasons. Visiting the Psychiatric ED itself can be a traumatic experience that can affect an adolescents mental well-being, regardless of a history of mental illness. Despite this, limited research exists in this domain. Prospective studies have correlated adverse psychosocial determinants among adolescents to risk factors for poor well-being and unfavorable behavior outcomes. Studies have also shown that physiological stress is a contributor in the development of health problems and an increase in substance abuse in adolescents. This study aimed to retrospectively determine which psychosocial factors are associated with an increase in psychiatric ED visits. 600 charts of patients who had a psychiatric ED and inpatient admission visit from January 2014 through December 2014 were reviewed. Sociodemographics, diagnoses, ED visits and inpatient admissions were collected. Descriptive statistics, chi-square tests and independent t-test analyses were utilized to examine differences in the sample to determine which factors affected ED visits and admissions. The sample was 50% female, 35.2% self-identified black, and had a mean age of 13 years. The majority, 85%, went to public school and 17% were in special education. Attention Deficit Hyperactivity Disorder was the most common admitting diagnosis, found in 132(23%) responders. Most patients came from single parent household 305 (53%). The mean ages of patients that were sexually active, with legal issues, and reporting marijuana substance abuse were 15, 14.35, and 15 years respectively. Patients from two biological parent households had significantly fewer ED visits (1.2 vs. 1.7, p < 0.01) and admissions (0.09 vs. 0.26, p < 0.01). Among social factors, those who reported sexual, physical or emotional abuse had a significantly greater number of ED visits (2.1 vs. 1.5, p < 0.01) and admissions (0.61 vs. 0.14, p < 0.01) than those who did not. Patients that were sexually active or had legal issues or substance abuse with marijuana had a significantly greater number of admissions (0.43 vs. 0.17, p < 0.01), (0.54 vs. .18, p < 0.01) and (0.46 vs. 0.18, p < 0.01) respectively. This data supports the theory of the stability of a two parent home. Dual parenting plays a role in creating a safe space where a child can develop; this is shown by subsequent decreases in psychiatric ED visits and admissions. This may highlight the psychological protective role of a two parent household. Abuse can exacerbate existing psychiatric illness or initiate the onset of new disease. Substance abuse and legal issues result in early induction to the criminal system. Results show that this causes an increase in frequency of visits and severity of symptoms. Only marijuana, but not other illicit substances, correlated with higher incidence of psychiatric ED visits. This may speak to the psychotropic nature of tetrahydrocannabinols and their role in mental illness. This study demonstrates the array of psychosocial factors that lead to increased ED visits and admissions in children and adolescents.

Keywords: adolescent, child psychiatry, emergency department, substance abuse

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Authors: Sadia Munir, Diana White, Aya Albahri, Pratiwi Hastania, Eltahir Mohamed, Mahmood Khan, Fathima Mohamed, Ayat Kadhi, Haila Saleem

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Preeclampsia is a major complication of pregnancy. Prediction and management of preeclampsia is a challenge for obstetricians. To our knowledge, no major progress has been achieved in the prevention and early detection of preeclampsia. There is very little known about the clear treatment path of this disorder. Preeclampsia puts both mother and baby at risk of several short term- and long term-health problems later in life. There is huge health service cost burden in the health care system associated with preeclampsia and its complications. Preeclampsia is divided into two different types. Early onset preeclampsia develops before 34 weeks of gestation, and late onset develops at or after 34 weeks of gestation. Different genetic and environmental factors, prognosis, heritability, biochemical and clinical features are associated with early and late onset preeclampsia. Prevalence of preeclampsia greatly varies all over the world and is dependent on ethnicity of the population and geographic region. To authors best knowledge, no published data on preeclampsia exist in Qatar. In this study, we are reporting the incidence of preeclampsia in Qatar. The purpose of this study is to compare the incidence and risk factors of both early onset and late onset preeclampsia in Qatar. This retrospective longitudinal cohort study was conducted using data from the hospital record of Women’s Hospital, Hamad Medical Corporation (HMC), from May 2014-May 2016. Data collection tool, which was approved by HMC, was a researcher made extraction sheet that included information such as blood pressure during admission, socio demographic characteristics, delivery mode, and new born details. A total of 1929 patients’ files were identified by the hospital information management when they apply codes of preeclampsia. Out of 1929 files, 878 had significant gestational hypertension without proteinuria, 365 had preeclampsia, 364 had severe preeclampsia, and 188 had preexisting hypertension with superimposed proteinuria. In this study, 78% of the data was obtained by hospital electronic system (Cerner) and the remaining 22% was from patient’s paper records. We have gone through detail data extraction from 560 files. Initial data analysis has revealed that 15.02% of pregnancies were complicated with preeclampsia from May 2014-May 2016. We have analyzed difference in the two different disease entities in the ethnicity, maternal age, severity of hypertension, mode of delivery and infant birth weight. We have identified promising differences in the risk factors of early onset and late onset preeclampsia. The data from clinical findings of preeclampsia will contribute to increased knowledge about two different disease entities, their etiology, and similarities/differences. The findings of this study can also be used in predicting health challenges, improving health care system, setting up guidelines, and providing the best care for women suffering from preeclampsia.

Keywords: preeclampsia, incidence, risk factors, maternal

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Authors: Akanksha Bhatnagar, Sandhya Kortegare, Felice Elefant

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Context: Alzheimer's disease (AD) is a neurodegenerative disorder that is characterized by progressive cognitive decline and memory loss. The cause of AD is not fully understood, but it is thought to be caused by a combination of genetic, environmental, and lifestyle factors. One of the hallmarks of AD is the loss of neurons in the hippocampus, a brain region that is important for memory and learning. This loss of neurons is thought to be caused by a decrease in histone acetylation, which is a process that regulates gene expression. Research Aim: The research aim of the study was to develop mall molecule compounds that can enhance the activity of Tip60, a histone acetyltransferase that is important for memory and learning. Methodology/Analysis: The researchers used in silico structural modeling and a pharmacophore-based virtual screening approach to design and synthesize small molecule compounds strongly predicted to target and enhance Tip60’s HAT activity. The compounds were then tested in vitro and in vivo to assess their ability to enhance Tip60 activity and rescue cognitive deficits in AD models. Findings: The researchers found that several of the compounds were able to enhance Tip60 activity and rescue cognitive deficits in AD models. The compounds were also developed to cross the blood-brain barrier, which is an important factor for the development of potential AD therapeutics. Theoretical Importance: The findings of this study suggest that Tip60 HAT activators have the potential to be developed as therapeutic agents for AD. The compounds are specific to Tip60, which suggests that they may have fewer side effects than other HDAC inhibitors. Additionally, the compounds are able to cross the blood-brain barrier, which is a major hurdle for the development of AD therapeutics. Data Collection: The study collected data from a variety of sources, including in vitro assays and animal models. The in vitro assays assessed the ability of compounds to enhance Tip60 activity using histone acetyltransferase (HAT) enzyme assays and chromatin immunoprecipitation assays. Animal models were used to assess the ability of the compounds to rescue cognitive deficits in AD models using a variety of behavioral tests, including locomotor ability, sensory learning, and recognition tasks. The human clinical trials will be used to assess the safety and efficacy of the compounds in humans. Questions: The question addressed by this study was whether Tip60 HAT activators could be developed as therapeutic agents for AD. Conclusions: The findings of this study suggest that Tip60 HAT activators have the potential to be developed as therapeutic agents for AD. The compounds are specific to Tip60, which suggests that they may have fewer side effects than other HDAC inhibitors. Additionally, the compounds are able to cross the blood-brain barrier, which is a major hurdle for the development of AD therapeutics. Further research is needed to confirm the safety and efficacy of these compounds in humans.

Keywords: Alzheimer's disease, cognition, neuroepigenetics, drug discovery

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

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

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

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Authors: Sakinah Idris, Gabrine Jagersma, Bjorn Jaime Van Pelt, Kirstin Greaves-Lord

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Background: The PEERS (Program for the Education and Enrichment of Relational Skills) intervention can be considered a well-established, evidence-based intervention in the USA. However, testing the efficacy of cultural adaptations of PEERS is still ongoing. More and more, the involvement of all stakeholders in the development and evaluation of interventions is acknowledged as crucial for the longer term implementation of interventions across settings. Therefore, in the current project, teens with ASD (Autism Spectrum Disorder), their neurotypical peers, parents, teachers, as well as clinicians were involved in the development and evaluation of the Dutch version of PEERS. Objectives: The current presentation covers (1) the formative phase and (2) the preliminary adaptation test phase of the cultural adaptation of evidence-based interventions. In the formative phase, we aim to describe the process of adaptation of the PEERS program to the Dutch culture and care system. In the preliminary adaptation phase, we will present results from the preliminary adaptation test among 32 adolescents with ASD. Methods: In phase 1, a group discussion on common vocabulary was conducted among 70 teenagers (and their teachers) from special and regular education aged 12-18 years old. This inventory concerned 14 key constructs from PEERS, e.g., areas of interests, locations for making friends, common peer groups and crowds inside and outside of school, activities with friends, commonly used ways for electronic communication, ways for handling disagreements, and common teasing comebacks. Also, 15 clinicians were involved in the translation and cultural adaptation process. The translation and cultural adaptation process were guided by the research team, and who included input and feedback from all stakeholders through an iterative feedback incorporation procedure. In phase 2, The parent-reported Social Responsiveness Scale (SRS), the Test of Adolescent Social Skills Knowledge (TASSK), and the Quality of Socialization Questionnaire (QSQ) were assessed pre- and post-intervention to evaluate potential treatment outcome. Results: The most striking cultural adaptation - reflecting the standpoints of all stakeholders - concerned the strategies for handling rumors and gossip, which were suggested to be taught using a similar approach as the teasing comebacks, more in line with ‘down-to-earth’ Dutch standards. The preliminary testing of this adapted version indicated that the adolescents with ASD significantly improved their social knowledge (TASSK; t₃₁ = -10.9, p < .01), social experience (QSQ-Parent; t₃₁ = -4.2, p < .01 and QSQ-Adolescent; t₃₂ = -3.8, p < .01), and in parent-reported social responsiveness (SRS; t₃₃ = 3.9, p < .01). In addition, subjective evaluations of teens with ASD, their parents and clinicians were positive. Conclusions: In order to further scrutinize the effectiveness of the Dutch version of the PEERS intervention, we recommended performing a larger scale randomized control trial (RCT) design, for which we provide several methodological considerations.

Keywords: cultural adaptation, PEERS, preliminary testing, translation

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Authors: Elyria Kemp, Kelly Cowart, My Bui

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According to the National Institute of Mental Health, an estimated 31.9% of adolescents have had an anxiety disorder. Several environmental factors may help to contribute to high levels of anxiety and depression in young people (i.e., Generation Z, Millennials). However, as young people negotiate life on social media, they may begin to evaluate themselves using excessively high standards and adopt self-perfectionism tendencies. Broadly defined, self-perfectionism involves very critical evaluations of the self. Perfectionism may also come from others and may manifest as socially prescribed perfectionism, and young adults are reporting higher levels of socially prescribed perfectionism than previous generations. This rising perfectionism is also associated with anxiety, greater physiological reactivity, and a sense of social disconnection. However, theories from psychology suggest that improvement in emotion regulation can contribute to enhanced psychological and emotional well-being. Emotion regulation refers to the ways people manage how and when they experience and express their emotions. Cognitive reappraisal and expressive suppression are common emotion regulation strategies. Cognitive reappraisal involves changing the meaning of a stimulus that involves construing a potentially emotion-eliciting situation in a way that changes its emotional impact. By contrast, expressive suppression involves inhibiting the behavioral expression of emotion. The purpose of this research is to examine the efficacy of social marketing initiatives which promote emotion regulation strategies to help young adults regulate their emotions. In Study 1 a single factor (emotional regulation strategy: a cognitive reappraisal, expressive, control) between-subjects design was conducted using an online, non-student consumer panel (n=96). Sixty-eight percent of participants were male, and 32% were female. Study participants belonged to the Millennial and Gen Z cohort, ranging in age from 22 to 35 (M=27). Participants were first told to spend at least three minutes writing about a public speaking appearance which made them anxious. The purpose of this exercise was to induce anxiety. Next, participants viewed one of three advertisements (randomly assigned) which promoted an emotion regulation strategy—cognitive reappraisal, expressive suppression, or an advertisement non-emotional in nature. After being exposed to one of the ads, participants responded to a measure composed of two items to access their emotional state and the efficacy of the messages in fostering emotion management. Findings indicated that individuals in the cognitive reappraisal condition (M=3.91) exhibited the most positive feelings and more effective emotion regulation than the expressive suppression (M=3.39) and control conditions (M=3.72, F(1,92) = 3.3, p<.05). Results from this research can be used by institutions (e.g., schools) in taking a leadership role in attacking anxiety and other mental health issues. Social stigmas regarding mental health can be removed and a more proactive stance can be taken in promoting healthy coping behaviors and strategies to manage negative emotions.

Keywords: emotion regulation, anxiety, social marketing, generation z

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Authors: Kaaryn M. Cater

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Students with sensory processing sensitivity (SPS), Meares-Irlen Syndrome (MIS) and dyslexia can become overwhelmed and struggle to thrive in traditional tertiary learning environments. An estimated 50% of tertiary students who disclose learning related issues are dyslexic. This study explores the relationship between SPS, MIS and dyslexia. Baseline measures will be analysed to establish any correlation between these three minority methods of information processing. SPS is an innate sensitivity trait found in 15-20% of the population and has been identified in over 100 species of animals. Humans with SPS are referred to as Highly Sensitive People (HSP) and the measure of HSP is a 27 point self-test known as the Highly Sensitive Person Scale (HSPS). A 2016 study conducted by the author established base-line data for HSP students in a tertiary institution in New Zealand. The results of the study showed that all participating HSP students believed the knowledge of SPS to be life-changing and useful in managing life and study, in addition, they believed that all tutors and in-coming students should be given information on SPS. MIS is a visual processing and perception disorder that is found in approximately 10% of the population and has a variety of symptoms including visual fatigue, headaches and nausea. One way to ease some of these symptoms is through the use of colored lenses or overlays. Dyslexia is a complex phonological based information processing variation present in approximately 10% of the population. An estimated 50% of dyslexics are thought to have MIS. The study exploring possible correlations between these minority forms of information processing is due to begin in February 2017. An invitation will be extended to all first year students enrolled in degree programmes across all faculties and schools within the institution. An estimated 900 students will be eligible to participate in the study. Participants will be asked to complete a battery of on-line questionnaires including the Highly Sensitive Person Scale, the International Dyslexia Association adult self-assessment and the adapted Irlen indicator. All three scales have been used extensively in literature and have been validated among many populations. All participants whose score on any (or some) of the three questionnaires suggest a minority method of information processing will receive an invitation to meet with a learning advisor, and given access to counselling services if they choose. Meeting with a learning advisor is not mandatory, and some participants may choose not to receive help. Data will be collected using the Question Pro platform and base-line data will be analysed using correlation and regression analysis to identify relationships and predictors between SPS, MIS and dyslexia. This study forms part of a larger three year longitudinal study and participants will be required to complete questionnaires at annual intervals in subsequent years of the study until completion of (or withdrawal from) their degree. At these data collection points, participants will be questioned on any additional support received relating to their minority method(s) of information processing. Data from this study will be available by April 2017.

Keywords: dyslexia, highly sensitive person (HSP), Meares-Irlen Syndrome (MIS), minority forms of information processing, sensory processing sensitivity (SPS)

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Authors: Eglal Y. Ali, Smita Rao, Anat Lubetzky, Wen Ling

Abstract:

Background: Postural abnormalities, rigidity, clumsiness, and frequent falls are common among children with autism spectrum disorders (ASD). The central nervous system’s ability to process all reliable sensory inputs (weighting) and disregard potentially perturbing sensory input (reweighting) is critical for successfully maintaining standing postural control. This study examined how sensory inputs (visual and somatosensory) are weighted and reweighted to maintain standing postural control in children with ASD compared with typically developing (TD) children. Subjects: Forty (20 (TD) and 20 ASD) children and adolescents participated in this study. The groups were matched for age, weight, and height. Participants had normal somatosensory (no somatosensory hypersensitivity), visual, and vestibular perception. Participants with ASD were categorized with severity level 1 according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) and Social Responsiveness Scale. Methods: Using one force platform, the center of pressure (COP) was measured during quiet standing for 30 seconds, 3 times first standing on stable surface with eyes open (Condition 1), followed by randomization of the following 3 conditions: Condition 2 standing on stable surface with eyes closed, (visual input perturbed); Condition 3 standing on compliant foam surface with eyes open, (somatosensory input perturbed); and Condition 4 standing on compliant foam surface with eyes closed, (both visual and somatosensory inputs perturbed). Standing postural control was measured by three outcome measures: COP sway area, COP anterior-posterior (AP), and mediolateral (ML) path length (PL). A repeated measure mixed model Analysis of Variance was conducted to determine whether there was a significant difference between the two groups in the mean of the three outcome measures across the four conditions. Results: According to all three outcome measures, both groups showed a gradual increase in postural sway from condition 1 to condition 4. However, TD participants showed a larger postural sway than those with ASD. There was a significant main effect of condition on three outcome measures (p< 0.05). Only the COP AP PL showed a significant main effect of the group (p<0.05) and a significant group by condition interaction (p<0.05). In COP AP PL, TD participants showed a significant difference between condition 2 and the baseline (p<0.05), whereas the ASD group did not. This suggests that the ASD group did not weight visual input as much as the TD group. A significant difference between conditions for the ASD group was seen only when participants stood on foam regardless of the visual condition, suggesting that the ASD group relied more on the somatosensory inputs to maintain the standing postural control. Furthermore, the ASD group exhibited significantly smaller postural sway compared with TD participants during standing on the stable surface, whereas the postural sway of the ASD group was close to that of the TD group on foam. Conclusion: These results suggest that participants with high functioning ASD (level 1, no somatosensory hypersensitivity in ankles and feet) over-rely on somatosensory inputs and use a stiffening strategy for standing postural control. This deviation in the reweighting mechanism might explain the postural abnormalities mentioned above among children with ASD.

Keywords: autism spectrum disorders, postural sway, sensory weighting and reweighting, standing postural control

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Authors: Eglal Y. Ali, Smita Rao, Anat Lubetzky, Wen Ling

Abstract:

Background: Postural abnormalities, rigidity, clumsiness, and frequent falls are common among children with autism spectrum disorders (ASD). The central nervous system’s ability to process all reliable sensory inputs (weighting) and disregard potentially perturbing sensory input (reweighting) is critical for successfully maintaining standing postural control. This study examined how sensory inputs (visual and somatosensory) are weighted and reweighted to maintain standing postural control in children with ASD compared with typically developing (TD) children. Subjects: Forty (20 (TD) and 20 ASD) children and adolescents participated in this study. The groups were matched for age, weight, and height. Participants had normal somatosensory (no somatosensory hypersensitivity), visual, and vestibular perception. Participants with ASD were categorized with severity level 1 according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) and Social Responsiveness Scale. Methods: Using one force platform, the center of pressure (COP) was measured during quiet standing for 30 seconds, 3 times first standing on stable surface with eyes open (Condition 1), followed by randomization of the following 3 conditions: Condition 2 standing on stable surface with eyes closed, (visual input perturbed); Condition 3 standing on a compliant foam surface with eyes open, (somatosensory input perturbed); and Condition 4 standing on a compliant foam surface with eyes closed, (both visual and somatosensory inputs perturbed). Standing postural control was measured by three outcome measures: COP sway area, COP anterior-posterior (AP), and mediolateral (ML) path length (PL). A repeated measure mixed model analysis of variance was conducted to determine whether there was a significant difference between the two groups in the mean of the three outcome measures across the four conditions. Results: According to all three outcome measures, both groups showed a gradual increase in postural sway from condition 1 to condition 4. However, TD participants showed a larger postural sway than those with ASD. There was a significant main effect of the condition on three outcome measures (p< 0.05). Only the COP AP PL showed a significant main effect of the group (p<0.05) and a significant group by condition interaction (p<0.05). In COP AP PL, TD participants showed a significant difference between condition 2 and the baseline (p<0.05), whereas the ASD group did not. This suggests that the ASD group did not weigh visual input as much as the TD group. A significant difference between conditions for the ASD group was seen only when participants stood on foam regardless of the visual condition, suggesting that the ASD group relied more on the somatosensory inputs to maintain the standing postural control. Furthermore, the ASD group exhibited significantly smaller postural sway compared with TD participants during standing on a stable surface, whereas the postural sway of the ASD group was close to that of the TD group on foam. Conclusion: These results suggest that participants with high-functioning ASD (level 1, no somatosensory hypersensitivity in ankles and feet) over-rely on somatosensory inputs and use a stiffening strategy for standing postural control. This deviation in the reweighting mechanism might explain the postural abnormalities mentioned above among children with ASD.

Keywords: autism spectrum disorders, postural sway, sensory weighting and reweighting, standing postural control

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Authors: Salwa Mohamed Salah Eldin, Howida Kamal Ibrahim

Abstract:

Introduction: Major depressive disorder affects high proportion of the world’s population presenting cost load in health care. Extended release venlafaxine is more convenient and could reduce discontinuation syndrome. The once daily dosing also reduces the potential for adverse events such as nausea due to reduced Cmax. Venlafaxine is an effective first-line agent in the treatment of depression. A once daily formulation was designed to enhance patient compliance. Complexing with a resin was suggested to improve loading of the water soluble drug. The formulated systems were thoroughly evaluated in vitro to prove superiority to previous trials and were compared to the commercial extended release product in experimental animals. Materials and Methods: Venlafaxine-resinates were prepared using Dowex®50WX4-400 and Dowex®50WX8-100 at drug to resin weight ratio of 1: 1. The prepared resinates were evaluated for their drug content, particle shape and surface properties and in vitro release profile in gradient pH. The release kinetics and mechanism were evaluated. Venlafaxine-Dowex® resinates were encapsulated using O/W solvent evaporation technique. Poly-ε-caprolactone, Poly(D, L-lactide-co-glycolide) ester, Poly(D, L-lactide) ester and Eudragit®RS100 were used as coating polymers alone and in combination. Drug-resinate microcapsules were evaluated for morphology, entrapment efficiency and in-vitro release profile. The selected formula was tested in rabbits using a randomized, single-dose, 2-way crossover study against Effexor-XR tablets under fasting condition. Results and Discussion: The equilibrium time was 30 min for Dowex®50WX4-400 and 90 min for Dowex®50WX8-100. The percentage drug loaded was 93.96 and 83.56% for both resins, respectively. Both drug-Dowex® resintes were efficient in sustaining venlafaxine release in comparison to the free drug (up to 8h.). Dowex®50WX4-400 based venlafaxine-resinate was selected for further encapsulation to optimize the release profile for once daily dosing and to lower the burst effect. The selected formula (coated with a mixture of Eudragit RS and PLGA in a ratio of 50/50) was chosen by applying a group of mathematical equations according to targeted values. It recorded the minimum burst effect, the maximum MDT (Mean dissolution time) and a Q24h (percentage drug released after 24 hours) between 95 and 100%. The 90% confidence intervals for the test/reference mean ratio of the log-transformed data of AUC0–24 and AUC0−∞ are within (0.8–1.25), which satisfies the bioequivalence criteria. Conclusion: The optimized formula could be a promising extended release form of the water soluble, short half lived venlafaxine. Being a multiple unit formulation, it lowers the probability of dose dumping and reduces the inter-subject variability in absorption.

Keywords: biodegradable polymers, cation-exchange resin, microencapsulation, venlafaxine hcl

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Authors: Mathula Thangarajh

Abstract:

Duchenne muscular dystrophy (DMD) is a severe form of X-linked muscular dystrophy caused by mutations in the dystrophin gene resulting in progressive skeletal muscle weakness. Boys with DMD also have significant cognitive disabilities. The intelligence quotient of boys with DMD, compared to peers, is approximately one standard deviation below average. Detailed neuropsychological testing has demonstrated that boys with DMD have a global developmental impairment, with verbal memory and visuospatial skills most significantly affected. Furthermore, the total brain volume and gray matter volume are lower in children with DMD compared to age-matched controls. These results are suggestive of a significant structural and functional compromise to the developing brain as a result of absent dystrophin protein expression. There is also some genetic evidence to suggest that mutations in the 3’ end of the DMD gene are associated with more severe neurocognitive problems. Our working hypothesis is that (i) boys with DMD do not make gains in neurodevelopmental skills compared to typically developing children and (ii) women carriers of DMD mutations may have subclinical cognitive deficits. We also hypothesize that there may be an intergenerational vulnerability of cognition, with boys of DMD-carrier mothers being more affected cognitively than boys of non-DMD-carrier mothers. The objectives of this study are: 1. Assess the neurodevelopment in boys with DMD at 4-time points and perform baseline neuroradiological assessment, 2. Assess cognition in biological mothers of DMD participants at baseline, 3. Assess possible correlation between DMD mutation and cognitive measures. This study also explores functional brain abnormalities in people with DMD by exploring how regional and global connectivity of the brain underlies executive function deficits in DMD. Such research can contribute to a better holistic understanding of the cognition alterations due to DMD and could potentially allow clinicians to create better-tailored treatment plans for the DMD population. There are four study visits for each participant (baseline, 2-4 weeks, 1 year, 18 months). At each visit, the participant completes the NIH Toolbox Cognition Battery, a validated psychometric measure that is recommended by NIH Common Data Elements for use in DMD. Visits 1, 3, and 4 also involve the administration of the BRIEF-2, ABAS-3, PROMIS/NeuroQoL, PedsQL Neuromuscular module 3.0, Draw a Clock Test, and an optional fMRI scan with the N-back matching task. We expect to enroll 52 children with DMD, 52 mothers of children with DMD, and 30 healthy control boys. This study began in 2020 during the height of the COVID-19 pandemic. Due to this, there were subsequent delays in recruitment because of travel restrictions. However, we have persevered and continued to recruit new participants for the study. We partnered with the Muscular Dystrophy Association (MDA) and helped advertise the study to interested families. Since then, we have had families from across the country contact us about their interest in the study. We plan to continue to enroll a diverse population of DMD participants to contribute toward a better understanding of Duchenne Muscular Dystrophy.

Keywords: neurology, Duchenne muscular dystrophy, muscular dystrophy, cognition, neurodevelopment, x-linked disorder, DMD, DMD gene

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Authors: Laura O’Halloran, Zhipeng Cao, Clare M. Kelly, Hugh Garavan, Robert Whelan

Abstract:

Reaction time (RT) variability on cognitive tasks provides the index of the efficiency of executive control processes (e.g. attention and inhibitory control) and is considered to be a hallmark of clinical disorders, such as attention-deficit disorder (ADHD). Increased RT variability is associated with structural and functional brain differences in children and adults with various clinical disorders, as well as poorer task performance accuracy. Furthermore, the strength of functional connectivity across various brain networks, such as the negative relationship between the task-negative default mode network and task-positive attentional networks, has been found to reflect differences in RT variability. Although RT variability may provide an index of attentional efficiency, as well as being a useful indicator of neurological impairment, the brain substrates associated with RT variability remain relatively poorly defined, particularly in a healthy sample. Method: Firstly, we used the intra-individual coefficient of variation (ICV) as an index of RT variability from “Go” responses on the Stop Signal Task. We then examined the functional and structural neural correlates of ICV in a large sample of 14-year old healthy adolescents (n=1719). Of these, a subset had elevated symptoms of ADHD (n=80) and was compared to a matched non-symptomatic control group (n=80). The relationship between brain activity during successful and unsuccessful inhibitions and gray matter volume were compared with the ICV. A mediation analysis was conducted to examine if specific brain regions mediated the relationship between ADHD symptoms and ICV. Lastly, we looked at functional connectivity across various brain networks and quantified both positive and negative correlations during “Go” responses on the Stop Signal Task. Results: The brain data revealed that higher ICV was associated with increased structural and functional brain activation in the precentral gyrus in the whole sample and in adolescents with ADHD symptoms. Lower ICV was associated with lower activation in the anterior cingulate cortex (ACC) and medial frontal gyrus in the whole sample and in the control group. Furthermore, our results indicated that activation in the precentral gyrus (Broadman Area 4) mediated the relationship between ADHD symptoms and behavioural ICV. Conclusion: This is the first study first to investigate the functional and structural correlates of ICV collectively in a large adolescent sample. Our findings demonstrate a concurrent increase in brain structure and function within task-active prefrontal networks as a function of increased RT variability. Furthermore, structural and functional brain activation patterns in the ACC, and medial frontal gyrus plays a role-optimizing top-down control in order to maintain task performance. Our results also evidenced clear differences in brain morphometry between adolescents with symptoms of ADHD but without clinical diagnosis and typically developing controls. Our findings shed light on specific functional and structural brain regions that are implicated in ICV and yield insights into effective cognitive control in healthy individuals and in clinical groups.

Keywords: ADHD, fMRI, reaction-time variability, default mode, functional connectivity

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