Search results for: antisite disorder
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 1219

Search results for: antisite disorder

1039 Interdisciplinary Evaluations of Children with Autism Spectrum Disorder in a Telehealth Arena

Authors: Janice Keener, Christine Houlihan

Abstract:

Over the last several years, there has been an increase in children identified as having Autism Spectrum Disorder (ASD). Specialists across several disciplines: mental health and medical professionals have been tasked with ensuring accurate and timely evaluations for children with suspected ASD. Due to the nature of the ASD symptom presentation, an interdisciplinary assessment and treatment approach best addresses the needs of the whole child. During the unprecedented COVID-19 Pandemic, clinicians were faced with how to continue with interdisciplinary assessments in a telehealth arena. Instruments that were previously used to assess ASD in-person were no longer appropriate measures to use due to the safety restrictions. For example, The Autism Diagnostic Observation Schedule requires examiners and children to be in very close proximity of each other and if masks or face shields are worn, they render the evaluation invalid. Similar issues arose with the various cognitive measures that are used to assess children such as the Weschler Tests of Intelligence and the Differential Ability Scale. Thus the need arose to identify measures that are able to be safely and accurately administered using safety guidelines. The incidence of ASD continues to rise over time. Currently, the Center for Disease Control estimates that 1 in 59 children meet the criteria for a diagnosis of ASD. The reasons for this increase are likely multifold, including changes in diagnostic criteria, public awareness of the condition, and other environmental and genetic factors. The rise in the incidence of ASD has led to a greater need for diagnostic and treatment services across the United States. The uncertainty of the diagnostic process can lead to an increased level of stress for families of children with suspected ASD. Along with this increase, there is a need for diagnostic clarity to avoid both under and over-identification of this condition. Interdisciplinary assessment is ideal for children with suspected ASD, as it allows for an assessment of the whole child over the course of time and across multiple settings. Clinicians such as Psychologists and Developmental Pediatricians play important roles in the initial evaluation of autism spectrum disorder. An ASD assessment may consist of several types of measures such as standardized checklists, structured interviews, and direct assessments such as the ADOS-2 are just a few examples. With the advent of telehealth clinicians were asked to continue to provide meaningful interdisciplinary assessments via an electronic platform and, in a sense, going to the family home and evaluating the clinical symptom presentation remotely and confidently making an accurate diagnosis. This poster presentation will review the benefits, limitations, and interpretation of these various instruments. The role of other medical professionals will also be addressed, including medical providers, speech pathology, and occupational therapy.

Keywords: Autism Spectrum Disorder Assessments, Interdisciplinary Evaluations , Tele-Assessment with Autism Spectrum Disorder, Diagnosis of Autism Spectrum Disorder

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1038 Functional Impairment in South African Children with ADHD: Design, Implementation and Evaluation of a Targeted Intervention

Authors: Mareli Fischer, Kevin G. F. Thomas

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Although Attention-Deficit/Hyperactivity Disorder (ADHD) is one of the most prevalent childhood neurobehavioural disorders, little empirical research has been published on its clinical presentation in Africa, and, globally, few studies evaluate ADHD intervention programs that emphasize parent training. Hence, Stage 1 of this research programme aimed to describe the functional impairment of South African children with ADHD, and also sought to investigate the influence of sociodemographic variables (e.g., sex, age, socioeconomic status, family environment) and clinical variables (e.g., ADHD subtype and comorbidity) on the degree of that impairment. We used the Mini International Neuropsychiatric Interview for Children and Adolescents as a diagnostic tool, and the Child Behavior Checklist, the Strengths and Difficulties Questionnaire, and the Impairment Rating Scale as measures of functional impairment. Results from this stage of the research indicated that South African children and adolescents who meet diagnostic criteria for ADHD experience most functional impairment in the school domain, as well as in the area of social functioning. None of the measured sociodemographic variables had a significant detrimental or protective effect on how ADHD symptoms impacted on functioning. In terms of comorbidity, the presence of Major Depressive Disorder, Conduct Disorder, and Oppositional Defiant Disorder were all associated with significantly impaired overall functioning. Stage 2 of the research programme aimed to design, implement, and evaluate a child-specific intervention that targeted the primary areas of impairment identified in Stage 1. Existing literature suggests that a positive parent-training programme, in the group format, is one of the best options for cost-effective and successful ADHD intervention. Hence, the intervention took that form. Parents were taught basic behaviour analysis concepts within a supportive group context. Evaluation of the intervention’s efficacy used many of the same measures as in Stage 1, but also featured semi-structured interviews with participants and naturalistic observation of parent-child interaction. We will discuss preliminary results of that evaluation. Studying functional impairment and designing intervention plans in this way will pave the way for evidence-based treatment plans for children and adolescents diagnosed with ADHD.

Keywords: attention deficit/hyperactivity disorder, children, intervention, parenting groups

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1037 A Child with Attention Deficit Hyperactivity Disorder in a Trap of Expectations: About the Golem Effect at School

Authors: Natalia Kajka, Agnieszka Kulik

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The aim of the study is to present the results regarding differences in perception of cognitive progress of children with Attention Deficit Hyperactivity Disorder (ADHD) by adults and children themselves. The experiment was attended by 45 children with ADHD, their parents and teachers. The children attended the 3-month metacognitive training. Both children and adults were examined before and after joining this project. In order to show significant differences between the first and second measurement of the test, non-parametric Wilcoxon tests were performed. The analysis showed statistically significant differences in the change of cognitive functioning in children with ADHD participating in metacognitive training, this was also confirmed by the results of the parents' research. There were no significant differences in the teachers' assessment of these children.

Keywords: ADHD, executive function, Golem effect metacognitive training

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1036 From an Expectations Crisis to a Mental Disorder: The Consequences of Irregular Journeys on Sub-Saharan Migrants

Authors: Siham Soulaimi

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Europe has become a difficult destination due to strict migration policies and border controls, making Morocco an immigration country. Morocco is currently at the center of the international migration debate because it not only hosts regular migrants but also must deal with the problem of irregular migrants entering its territory. Sub-Saharan irregular migration is full of challenges that might cause a delay for the migrants, announcing a death sentence for many others. The journey's hurdles are likely to cause a crisis in expectations, resulting in serious consequences on the migrants' mental health. Our research study emphasizes that sub-Saharan migrants begin irregular journeys with high hopes, only to be disappointed by how unexpectedly cruel it turns out to be. We also pointed to specific physical and, more crucially, mental health problems that they end up with after survival, resulting in somatic disorders.

Keywords: irregular migration, Sub-Saharan migrants, challenges, experiences crisis, mental health, somatoform disorder

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1035 Cognitive and Behavioral Disorders in Patients with Precuneal Infarcts

Authors: F. Ece Cetin, H. Nezih Ozdemir, Emre Kumral

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Ischemic stroke of the precuneal cortex (PC) alone is extremely rare. This study aims to evaluate the clinical, neurocognitive, and behavioural characteristics of isolated PC infarcts. We assessed neuropsychological and behavioral findings in 12 patients with isolated PC infarct among 3800 patients with ischemic stroke. To determine the most frequently affected brain locus in patients, we first overlapped the ischemic area of patients with specific cognitive disorders and patients without specific cognitive disorders. Secondly, we compared both overlap maps using the 'subtraction plot' function of MRIcroGL. Patients showed various types of cognitive disorders. All patients experienced more than one category of cognitive disorder, except for two patients with only one cognitive disorder. Lesion topographical analysis showed that damage within the anterior precuneal region might lead to consciousness disorders (25%), self-processing impairment (42%), visuospatial disorders (58%), and lesions in the posterior precuneal region caused episodic and semantic memory impairment (33%). The whole precuneus is involved in at least one body awareness disorder. The cause of the stroke was cardioembolism in 5 patients (42%), large artery disease in 3 (25%), and unknown in 4 (33%). This study showed a wide variety of neuropsychological and behavioural disorders in patients with precuneal infarct. Future studies are needed to achieve a proper definition of the function of the precuneus in relation to the extended cortical areas. Precuneal cortex region infarcts have been found to predict a source of embolism from the large arteries or heart.

Keywords: cognition, pericallosal artery, precuneal cortex, ischemic stroke

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1034 Social Anxiety Connection with Individual Characteristics: Theory of Mind, Verbal Irony Comprehension and Personal Traits

Authors: Anano Tenieshvili, Teona Lodia

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Social anxiety disorder (SAD) is one of the most common mental health problems not only in adults but also in adolescents. Individuals with SAD exhibit difficulties in interpersonal relationships, understanding emotions, and regulating them as well. For social and emotional adaptation, it is crucial to identify, understand, accept and manage emotions correctly. Researchers actively learn those factors that contribute to the development and maintenance of this condition. Therefore, the main purpose of this study is to acquire knowledge about the association between social anxiety and individual characteristics, such as theory of mind (ToM), verbal irony comprehension, and personal traits. 112 adolescents aged from 12 to 18 were selected for this research. 15 of them are diagnosed with Social anxiety disorder. Statistical analysis was performed on the entire sample, and furthermore, two groups, adolescents with and without social anxiety disorder, were compared separately. Social anxiety and personal traits were assessed by questionnaires. Theory of mind and comprehension of verbal irony were measured using tests. Statistical analysis indicated a positive relationship between social anxiety and comprehension of ironic criticism. Moreover, social anxiety was significantly positively correlated with neuroticism and isolation tendency, whereas it was negatively related to extraversion and frustration tolerance. On top of that, statistical analysis revealed a positive relationship between ToM and verbal irony comprehension. However, the relationship between social anxiety and ToM was not statistically significant. In conclusion, the current research expands knowledge about social anxiety and supports the results of some previous studies.

Keywords: personal traits, social anxiety, theory of mind, verbal irony comprehension

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1033 Social Anxiety Connection with Individual Characteristics: Theory of Mind, Verbal Irony Comprehension and Personal Traits

Authors: Anano Tenieshvili, Teona Lodia

Abstract:

Social anxiety disorder (SAD) is one of the most common mental health problems not only in adults but also in adolescents. Individuals with SAD exhibit difficulties in interpersonal relationships, understanding emotions and regulating them as well. For social and emotional adaptation, it is crucial to identify, understand, accept and manage emotions correctly. Researchers actively learn those factors that contribute to the development and maintenance of this condition. Therefore, the main purpose of this study is to acquire knowledge about the association between social anxiety and individual characteristics, such as the theory of mind (ToM), verbal irony comprehension and personal traits. 112 adolescents aged from 12 to 18 were selected for this research. 15 of them are diagnosed with Social anxiety disorder. Statistical analysis was performed on the entire sample and furthermore, two groups, adolescents with and without a social anxiety disorder, were compared separately. Social anxiety and personal traits were assessed by questionnaires. Theory of mind and comprehension of verbal irony was measured using tests. Statistical analysis indicated a positive relationship between social anxiety and comprehension of ironic criticism. Moreover, social anxiety was significantly positively correlated with neuroticism and isolation tendency, whereas it was negatively related to extraversion and frustration tolerance. On top of that, statistical analysis revealed a positive relationship between ToM and verbal irony comprehension. However, the relationship between social anxiety and ToM was not statistically significant. In conclusion, the current research expands knowledge about social anxiety and supports the results of some previous studies.

Keywords: personal traits, social anxiety, theory of mind, verbal irony comprehension

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1032 Deficits in Perceptual and Musical Memory in Individuals with Major Depressive Disorder

Authors: Toledo-Fernandez Aldebaran

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Introduction: One of the least explored cognitive functions in relation with depression is the one related to musical stimuli. Music perception and memory can become impaired as well. The term amusia is used to define a type of agnosia caused by damage to basic processes that creates a general inability to perceive music. Therefore, the main objective is to explore performance-based and self-report deficits in music perception and memory on people with major depressive disorder (MDD). Method: Data was collected through April-October 2021 recruiting people who met the eligibility criteria and using the Montreal Battery of Evaluation of Amusia (MBEA) to evaluate performance-based music perception and memory, along with the module for depression of the Mini International Neuropsychiatric Interview, and the Amusic Dysfunction Inventory (ADI) which evaluates the participants’ self-report concerning their abilities in music perception. Results: 64 participants were evaluated. The main study, referring to analyzing the differences between people with MDD and the control group, only showed one statistical difference on the Interval subtest of the MBEA. No difference was found in the dimensions assessed by the ADI. Conclusion: Deficits in interval perception can be explained by mental fatigue, to which people with depression are more vulnerable, rather than by specific deficits in musical perception and memory associated with depressive disorder. Additionally, significant associations were found between musical deficits as observed by performance-based evidence and music dysfunction according to self-report, which could suggest that some people with depression are capable of detecting these deficits in themselves.

Keywords: depression, amusia, music, perception, memory

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1031 Decision-Making Under Uncertainty in Obsessive-Compulsive Disorder

Authors: Helen Pushkarskaya, David Tolin, Lital Ruderman, Ariel Kirshenbaum, J. MacLaren Kelly, Christopher Pittenger, Ifat Levy

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Obsessive-Compulsive Disorder (OCD) produces profound morbidity. Difficulties with decision making and intolerance of uncertainty are prominent clinical features of OCD. The nature and etiology of these deficits are poorly understood. We used a well-validated choice task, grounded in behavioral economic theory, to investigate differences in valuation and value-based choice during decision making under uncertainty in 20 unmedicated participants with OCD and 20 matched healthy controls. Participants’ choices were used to assess individual decision-making characteristics. Compared to controls, individuals with OCD were less consistent in their choices and less able to identify options that were unambiguously preferable. These differences correlated with symptom severity. OCD participants did not differ from controls in how they valued uncertain options when outcome probabilities were known (risk) but were more likely than controls to avoid uncertain options when these probabilities were imprecisely specified (ambiguity). These results suggest that the underlying neural mechanisms of valuation and value-based choices during decision-making are abnormal in OCD. Individuals with OCD show elevated intolerance of uncertainty, but only when outcome probabilities are themselves uncertain. Future research focused on the neural valuation network, which is implicated in value-based computations, may provide new neurocognitive insights into the pathophysiology of OCD. Deficits in decision-making processes may represent a target for therapeutic intervention.

Keywords: obsessive compulsive disorder, decision-making, uncertainty intolerance, risk aversion, ambiguity aversion, valuation

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1030 First Rank Symptoms in Mania: An Indistinct Diagnostic Strand

Authors: Afshan Channa, Sameeha Aleem, Harim Mohsin

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First rank symptoms (FRS) are considered to be pathognomic for Schizophrenia. However, FRS is not a distinctive feature of Schizophrenia. It has also been noticed in affective disorder, albeit not inclusive in diagnostic criteria. The presence of FRS in Mania leads to misdiagnosis of psychotic illness, further complicating the management and delay of appropriate treatment. FRS in Mania is associated with poor clinical and functional outcome. Its existence in the first episode of bipolar disorder may be a predictor of poor short-term outcome and decompensating course of illness. FRS in Mania is studied in west. However, the cultural divergence and detriments make it pertinent to study the frequency of FRS in affective disorder independently in Pakistan. Objective: The frequency of first rank symptoms in manic patients, who were under treatment at psychiatric services of tertiary care hospital. Method: The cross sectional study was done at psychiatric services of Aga Khan University Hospital, Karachi, Pakistan. One hundred and twenty manic patients were recruited from November 2014 to May 2015. The patients who were unable to comprehend Urdu or had comorbid psychiatric or organic disorder were excluded. FRS was assessed by administration of validated Urdu version of Present State Examination (PSE) tool. Result: The mean age of the patients was 37.62 + 12.51. The mean number of previous manic episode was 2.17 + 2.23. 11.2% males and 30.6% females had FRS. This association of first rank symptoms with gender in patients of mania was found to be significant with a p-value of 0.008. All-inclusive, 19.2% exhibited FRS in their course of illness. 43.5% had thought broadcasting, made feeling, impulses, action and somatic passivity. 39.1% had thought insertion, 30.4% had auditory perceptual distortion, and 17.4% had thought withdrawal. However, none displayed delusional perception. Conclusion: The study confirms the presence of FRS in mania in both male and female, irrespective of the duration of current manic illness or previous number of manic episodes. A substantial difference was established between both the genders. Being married had no protective effect on the presence of FRS.

Keywords: first rank symptoms, Mania, psychosis, present state examination

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1029 Exploration of the Possible Link Between Emotional Problems and Cholesterol Levels Among Children Diagnosed with Attention-Deficit Hyperactivity Disorder

Authors: Rosa S. Wong, Keith T.S. Tung, H.W. Tsang, Frederick K. Ho, Patrick Ip

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Attention-deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by inattention and hyperactive-impulsive behavior. Evidence shows that ADHD and mood problems such as depression and anxiety often co-occur and yet not everyone with ADHD reported elevated emotional problems. Given that cholesterol is essential for healthy brain development including the regions governing emotion regulation, reports found lower cholesterol levels in patients with major depressive disorder and those with suicide attempt behavior compared to healthy subjects. This study explored whether ADHD adolescents experienced more emotional problems and whether emotional problems correlated with cholesterol levels in these adolescents. This study used a portion of data from the longitudinal cohort study which was designed to investigate the long-term impact of family socioeconomic status on child development. In 2018/19, parents of 300 adolescents (average age: 12.57+/-0.49 years) were asked to rate their children’s emotional problems and report whether their children had doctor-diagnosed psychiatric diseases. We further collected blood samples from 263 children to study their lipid profile (total cholesterol, high-density lipoprotein (HDL)-cholesterol, and low-density lipoprotein (LDL)-cholesterol). Regression analyses were performed to test the relationships between variables of interest. Among 300 children, 27 (9%) had ADHD diagnosis. Analysis based on overall sample found no association between ADHD and emotional problems, but when investigating the relationship by gender, there was a significant interaction effect of ADHD and gender on emotional problems (p=0.037), with ADHD males displaying more emotional problems than ADHD females. Further analyses based on 263 children (21 with ADHD diagnosis) found significant interaction effect of ADHD and gender on total cholesterol (p=0.038) and low LDL-cholesterol levels (p=0.013) after adjusting for the child’s physical disease history. Specifically, ADHD males had significantly lower total cholesterol and low lipoprotein-cholesterol levels than ADHD females. In ADHD males, more emotional problems were associated with lower LDL-cholesterol levels (B = -4.26, 95%CI (-7.46, -1.07), p=0.013). We found preliminary support for the association between more emotional problems and lower cholesterol levels in ADHD children, especially among males. Although larger prospective studies are needed to substantiate these claims, the evidence highlights the importance of healthy lifestyle to keep cholesterol levels in normal range which can have positive effects on physical and mental health.

Keywords: attention-deficit hyperactivity disorder, cholesterol, emotional problems, adolescents

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1028 A Twelve-Week Intervention Programme to Improve the Gross Motor Skills of Selected Children Diagnosed with Autism Spectrum Disorder

Authors: Eileen K. Africa, Karel J. van Deventer

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Neuro-typical children develop the motor skills necessary to play, do schoolwork and interact with others. However, this is not observed in children who have learning or behavioural problems. Children with Autism Spectrum Disorder (ASD) are often referred to as clumsy because their body parts do not work well together in a sequence. Physical Activity (PA) has shown to be beneficial to the general population, therefore, providing children with ASD opportunities to take part in PA programmes, could prove to be beneficial in many ways and should be investigated. The purpose of this study was to design a specialised group intervention programme, to attempt to improve gross motor skills of selected children diagnosed with ASD between the ages of eight and 13 years. A government school for ASD learners was recruited to take part in this study, and a sample of convenience (N=7) was selected. Children in the experimental group (n=4) participated in a 12-week group intervention programme twice per week, while the control group continued with their normal daily routine. The Movement Assessment Battery for Children-Second Edition (MABC-2), was administered pre- and post-test to determine the children’s gross motor proficiency and to determine if the group intervention programme had an effect on the gross motor skills of the experimental group. Statistically significant improvements were observed in total motor skill proficiency (p < 0.05), of the experimental group. These results demonstrate the importance of gross motor skills interventions for children diagnosed with ASD. Future research should include more participants to ensure that the results can be generalised.

Keywords: autism spectrum disorder, children, gross motor skills, group intervention programme

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1027 Narrative Identity Predicts Borderline Personality Disorder Features in Inpatient Adolescents up to Six Months after Admission

Authors: Majse Lind, Carla Sharp, Salome Vanwoerden

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Narrative identity is the dynamic and evolving story individuals create about their personal pasts, presents, and presumed futures. This storied sense of self develops in adolescence and is crucial for fostering a sense of self-unity and purpose in life. A growing body of work has shown that several characteristics of narrative identity are disturbed in adults suffering from borderline personality disorder (BPD). Very little research, however, has explored the stories told by adolescents with BPD features. Investigating narrative identity early in the lifespan and in relation to personality pathology is crucial; BPD is a developmental disorder with early signs appearing already in adolescence. In the current study, we examine narrative identity (focusing on themes of agency and communion) coded from self-defining memories derived from the child attachment interview in 174 inpatient adolescents (M = 15.12, SD = 1.52) at the time of admission. The adolescents’ social cognition was further assessed on the basis of their reactions to movie scenes (i.e., the MASC movie task). They also completed a trauma checklist and self-reported BPD features at three different time points (i.e., at admission, at discharge, and 6 months after admission). Preliminary results show that adolescents who told stories containing themes of agency and communion evinced better social cognition, and lower emotional abuse on the trauma checklist. In addition, adolescents who disclosed stories containing lower levels of agency and communion demonstrated more BPD symptoms at all three time points, even when controlling for the occurrence of traumatic life events. Surprisingly, social cognitive abilities were not significantly associated with BPD features. These preliminary results underscore the importance of narrative identity as an indicator, and potential cause, of incipient personality pathology. Thus, focusing on diminished themes of narrative-based agency and communion in early adolescence could be crucial in preventing the development of personality pathology over time.

Keywords: borderline personality disorder, inpatient adolescents, narrative identity, follow-ups

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1026 The Development of Psychosis in Offenders and Its Relationship to Crime

Authors: Belinda Crissman

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Serious mental disorder is greatly overrepresented in prisoners compared to the general community, with consequences for prison management, recidivism and the prisoners themselves. Incarcerated individuals with psychotic disorders experience insufficient detection and treatment and higher rates of suicide in custody. However direct evidence to explain the overrepresentation of individuals with psychosis in prisons is sparse. The current study aimed to use a life course criminology perspective to answer two key questions: 1) What is the temporal relationship between psychosis and offending (does first mental health contact precede first recorded offence, or does the offending precede the mental health diagnosis)? 2) Are there key temporal points or system contacts prior to incarceration that could be identified as opportunities for early intervention? Data from the innovative Queensland Linkage project was used to link individuals with their corrections, health and relevant social service systems to answer these questions.

Keywords: mental disorder, crime, life course criminology, prevention

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1025 Self‑reported Auditory Problems Are Associated with Adverse Mental Health Outcomes and Alcohol Misuse in the UK Armed Forces

Authors: Fred N. H. Parker, Nicola T. Fear, S. A. M. Stevelink, L. Rafferty

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Purpose Auditory problems, such as hearing loss and tinnitus, have been associated with mental health problems and alcohol misuse in the UK general population and in the US Armed Forces; however, few studies have examined these associations within the UK Armed Forces. The present study examined the association between auditory problems and probable common mental disorders, post-traumatic stress disorder and alcohol misuse. Methods 5474 serving and ex-service personnel from the UK Armed Forces were examined, selected from those who responded to phase two (data collection 2007–09) and phase three (2014–16) of a military cohort study. Multivariable logistic regression was used to examine the association between auditory problems at phase two and mental health problems at phase three. Results 9.7% of participants reported ever experiencing hearing problems alone, 7.9% reported tinnitus within the last month alone, and 7.8% reported hearing problems with tinnitus. After adjustment, hearing problems with tinnitus at phase two was associated with increased odds of probable common mental disorders (AOR = 1.50, 95% CI 1.09–2.08), post-traumatic stress disorder (AOR = 2.30, 95% CI 1.41–3.76), and alcohol misuse (AOR = 1.94, 95% CI 1.28–2.96) at phase three. Tinnitus alone was associated with probable post-traumatic stress disorder (AOR = 1.80, 95% CI 1.03–3.15); however, hearing problems alone were not associated with any outcomes of interest. Conclusions The association between auditory problems and mental health problems emphasizes the importance of the prevention of auditory problems in the Armed Forces: through enhanced audiometric screening, improved hearing protection equipment, and greater levels of utilization of such equipment.

Keywords: armed forces, hearing problems, tinnitus, mental health, alcohol misuse

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1024 Design of a Virtual Reality System for Children with Developmental Coordination Disorder

Authors: Ya-Ju Ju, Li-Chen Yang, Yi-Chun Du, Rong-Ju Cherng

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Introduction: It is estimated that 5-6% of school-aged children may be diagnosed to have developmental coordination disorder (DCD). Children with DCD are characterized with motor skill difficulty which cannot be explained by any medical or intellectual reasons. Such motor difficulties limit children’s participation to sports activity, further affect their physical fitness, cardiopulmonary function and balance, and may lead to obesity. The purpose of the project was to develop an exergaming system for children with DCD aiming to improve their physical fitness, cardiopulmonary function and balance ability. Methods: This study took five steps to build up the system: system planning, tasks selection, tasks programming, system integration and usability test. The system basically adopted virtual reality technique to integrate self-developed training programs. The training programs were developed to brainstorm among team members and after literature review. The selected tasks for training in the system were a combination of fundamental movement tor skill. Results and Discussion: Based on the theory of motor development, we design the training task from easy ones to hard ones, from single tasks to dual tasks. The tasks included walking, sit to stand, jumping, kicking, weight shifting, side jumping and their combination. Preliminary study showed that the tasks presented an order of development. Further study is needed to examine its effect on motor skill and cardiovascular fitness in children with DCD.

Keywords: virtual reality, virtual reality system, developmental coordination disorder, children

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1023 Using Wearable Device with Neuron Network to Classify Severity of Sleep Disorder

Authors: Ru-Yin Yang, Chi Wu, Cheng-Yu Tsai, Yin-Tzu Lin, Wen-Te Liu

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Background: Sleep breathing disorder (SDB) is a condition demonstrated by recurrent episodes of the airway obstruction leading to intermittent hypoxia and quality fragmentation during sleep time. However, the procedures for SDB severity examination remain complicated and costly. Objective: The objective of this study is to establish a simplified examination method for SDB by the respiratory impendence pattern sensor combining the signal processing and machine learning model. Methodologies: We records heart rate variability by the electrocardiogram and respiratory pattern by impendence. After the polysomnography (PSG) been done with the diagnosis of SDB by the apnea and hypopnea index (AHI), we calculate the episodes with the absence of flow and arousal index (AI) from device record. Subjects were divided into training and testing groups. Neuron network was used to establish a prediction model to classify the severity of the SDB by the AI, episodes, and body profiles. The performance was evaluated by classification in the testing group compared with PSG. Results: In this study, we enrolled 66 subjects (Male/Female: 37/29; Age:49.9±13.2) with the diagnosis of SDB in a sleep center in Taipei city, Taiwan, from 2015 to 2016. The accuracy from the confusion matrix on the test group by NN is 71.94 %. Conclusion: Based on the models, we established a prediction model for SDB by means of the wearable sensor. With more cases incoming and training, this system may be used to rapidly and automatically screen the risk of SDB in the future.

Keywords: sleep breathing disorder, apnea and hypopnea index, body parameters, neuron network

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1022 Somatic Delusional Disorder Subsequent to Phantogeusia: A Case Report

Authors: Pedro Felgueiras, Ana Miguel, Nélson Almeida, Raquel Silva

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Objective: Through the study of a clinical case of delusional somatic disorder secondary to phantogeusia, we aim to highlight the importance of considering psychosomatic conditions in differential diagnosis, as well as to emphasize the complexity of its comprehension, treatment, and respective impact on patients’ functioning. Methods: Bearing this in mind, we conducted a critical analysis of a case series based on patient observations, clinical data, and complementary diagnostic methods, as well as a non-systematic review of the literature on the subject. Results: A 61-year-old female patient with no history of psychiatric conditions. Family psychiatric history of mood disorder (depression), with psychotic features found in her mother. Medical history of many comorbidities affecting different organ systems (endocrine, gastrointestinal, genitourinary, ophthalmological). Documented neuroticism traits of personality. The patient’s family described a persistent concern about several physical symptoms across her life, with a continuous effort to obtain explanations about any sensation out of her normal perception. Since being subjected to endoscopy in 2018, she started complaints of persistent phantogeusia (acid taste) and developed excessive thoughts, feelings, and behaviors associated with this somatic symptom. The patient was evaluated by several medical specialties, and an extensive panel of medical exams was carried out, excluding any disease. Besides all the investigation and with no evidence of disease signs, acute anxiety, time, and energy dispended to this symptom culminated in severe psychosocial impairment. The patient was admitted to a psychiatric ward for investigation and treatment of this clinical picture, leading to the diagnosis of the delusional somatic disorder. In order to exclude the acute organic etiology of this psychotic disorder, an analytic panel was carried out with no abnormal results. In the context of a psychotic clinical picture, a CT scan was performed, which revealed a right cortical vascular lesion. Neuropsychological evaluation was made, with the description of cognitive functioning being globally normative. During treatment with an antipsychotic (pimozide), a complete remission of the somatic delusion was associated with the disappearance of gustative perception disturbance. In follow-up, a relapse of gustative sensation was documented, and her thoughts and speech were dominated by concerns about multiple somatic symptoms. Conclusion: In terms of abnormal bodily sensations, the oral cavity is one of the frequent sites of delusional disorder. Patients with these gustatory perception distortions complain about unusual sensations without corresponding abnormal findings in the oral area. Its pathophysiology has not been fully elucidated yet. In terms of its comprehensive psychopathology, this case was hypothesized as a paranoid development of a delusional somatic disorder triggered by a post-invasive procedure phantogeusia (which is described as a possible side effect of an endoscopy) in a patient with an anankastic personality. This case presents interesting psychopathology, reinforcing the complexity of psychosomatic disorders in terms of their etiopathogenesis, clinical treatment, and long-term prognosis.

Keywords: psychosomatics, delusional somatic disorder, phantogeusia, paranoid development

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1021 Using an Empathy Intervention Model to Enhance Empathy and Socially Shared Regulation in Youth with Autism Spectrum Disorder

Authors: Yu-Chi Chou

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The purpose of this study was to establish a logical path of an instructional model of empathy and social regulation, providing feasibility evidence on the model implementation in students with autism spectrum disorder (ASD). This newly developed Emotional Bug-Out Bag (BoB) curriculum was designed to enhance the empathy and socially shared regulation of students with ASD. The BoB model encompassed three instructional phases of basic theory lessons (BTL), action plan practices (APP), and final theory practices (FTP) during implementation. Besides, a learning flow (teacher-directed instruction, student self-directed problem-solving, group-based task completion, group-based reflection) was infused into the progress of instructional phases to deliberately promote the social regulatory process in group-working activities. A total of 23 junior high school students with ASD were implemented with the BoB curriculum. To examine the logical path for model implementation, data was collected from the participating students’ self-report scores on the learning nodes and understanding questions. Path analysis using structural equation modeling (SEM) was utilized for analyzing scores on 10 learning nodes and 41 understanding questions through the three phases of the BoB model. Results showed (a) all participants progressed throughout the implementation of the BoB model, and (b) the models of learning nodes and phases were positive and significant as expected, confirming the hypothesized logic path of this curriculum.

Keywords: autism spectrum disorder, empathy, regulation, socially shared regulation

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1020 Effect of Relaxation Techniques in Reducing Stress Level among Mothers of Children with Autism Spectrum Disorder

Authors: R. N. Jay A. Ablog, M. N. Dyanne R. Del Carmen, Roma Rose A. Dela Cruz, Joselle Dara M. Estrada, Luke Clifferson M. Gagarin, Florence T. Lang-ay, Ma. Dayanara O. Mariñas, Maria Christina S. Nepa, Jahraine Chyle B. Ocampo, Mark Reynie Renz V. Silva, Jenny Lyn L. Soriano, Loreal Cloe M. Suva, Jackelyn R. Torres

Abstract:

Background: To date, there is dearth of literature as to the effect of relaxation techniques in lowering the stress level of mothers of children with autism spectrum disorder (ASD). Aim: To investigate the effectiveness of 4-week relaxation techniques in stress level reduction of mothers of children with ASD. Methods: Quasi experimental design. It included 25 mothers (10-experimental, 15-control) who were chosen via purposive sampling. The mothers were recruited in the different SPED centers in Baguio City and La Trinidad and in the community. Statistics used were T-test and Related T-Test. Results: The overall weighted mean score after 4-week training is 2.3, indicating that the relaxation techniques introduced were moderately effective in lowering stress level. Statistical analysis (T-test; CV=4.51>TV=2.26) shown a significant difference in the stress level reduction of mothers in the experimental group pre and post interventions. There is also a significant difference in the stress level reduction in the control and the experimental group (Related T-test; CV=2.08 >TV=2.07). The relaxation techniques introduced were favorable, cost-effective, and easy to perform interventions to decrease stress level.

Keywords: relaxation techniques, mindful eating, progressive muscle relaxation, breathing exercise, autism spectrum disorder

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1019 Automatic Processing of Trauma-Related Visual Stimuli in Female Patients Suffering From Post-Traumatic Stress Disorder after Interpersonal Traumatization

Authors: Theresa Slump, Paula Neumeister, Katharina Feldker, Carina Y. Heitmann, Thomas Straube

Abstract:

A characteristic feature of post-traumatic stress disorder (PTSD) is the automatic processing of disorder-specific stimuli that expresses itself in intrusive symptoms such as intense physical and psychological reactions to trauma-associated stimuli. That automatic processing plays an essential role in the development and maintenance of symptoms. The aim of our study was, therefore, to investigate the behavioral and neural correlates of automatic processing of trauma-related stimuli in PTSD. Although interpersonal traumatization is a form of traumatization that often occurs, it has not yet been sufficiently studied. That is why, in our study, we focused on patients suffering from interpersonal traumatization. While previous imaging studies on PTSD mainly used faces, words, or generally negative visual stimuli, our study presented complex trauma-related and neutral visual scenes. We examined 19 female subjects suffering from PTSD and examined 19 healthy women as a control group. All subjects did a geometric comparison task while lying in a functional-magnetic-resonance-imaging (fMRI) scanner. Trauma-related scenes and neutral visual scenes that were not relevant to the task were presented while the subjects were doing the task. Regarding the behavioral level, there were not any significant differences between the task performance of the two groups. Regarding the neural level, the PTSD patients showed significant hyperactivation of the hippocampus for task-irrelevant trauma-related stimuli versus neutral stimuli when compared with healthy control subjects. Connectivity analyses revealed altered connectivity between the hippocampus and other anxiety-related areas in PTSD patients, too. Overall, those findings suggest that fear-related areas are involved in PTSD patients' processing of trauma-related stimuli even if the stimuli that were used in the study were task-irrelevant.

Keywords: post-traumatic stress disorder, automatic processing, hippocampus, functional magnetic resonance imaging

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1018 Exploring the Link between Hoarding Disorder and Trauma: A Scoping Review

Authors: Murray Anderson, Galina Freed, Karli Jahn

Abstract:

Trauma is increasingly recognized as an important construct that has health implications for those who struggle with various mental health issues. For those individuals who meet the criteria for a diagnosis of hoarding disorder (HD), many have experienced some form of trauma. Further, some of the therapeutic interventions for those with HD can further perpetuate or magnify the experience of trauma. Therefore, the aim of this scoping review is to identify and document the nature and extent of research evidence related to trauma as it connects with HD. This review was guided by the questions, ‘How can our understanding of the trauma cycle help us to better appreciate the experiences of individuals who hoard, and how will a trauma informed lens inform the interventions for hoarding disorder? A comprehensive literature search was performed to identify original studies that contained the words “hoarding” and “trauma.” PsychINFO”,''EBSCO host,” “CINAHL” and “PubMed” were searched between January 2005 and April 2021. Articles were screened by three reviewers. Data extracted included publication date, demographics, study design, type of analysis, and noted connections between hoarding and trauma. Of the 329 articles, all duplicates, articles on hoardings of animals, articles not in English, and those without full-text availability were removed. Five categories were found in the remaining 45 articles, including (a) traumatic and stressful life events; (b) the link between posttraumatic stress disorder, trauma, and hoarding; (c) the relationships between different comorbidities, trauma, and hoarding; (d) the lack of early emotional expression and other forms of parental deprivation; and (e) the role of attachment. Lastly, the literature explains how the links between hoarding and trauma are difficult to study due to the highly stigmatized identities with this population. The review provided strong support for the connections between the experience of trauma and HD. What is missing from the literature is the use of a trauma-informed lens to better account for the ways in which hoarding disorder is understood. Other missing pieces in the literature are the potential uses of a trauma-informed lens to enhance the therapeutic process, to understand and reduce treatment attrition, and to improve treatment outcomes. The application of a trauma informed lens could improve our understanding of effective interactions among clients, families, and communities and improve the education around hoarding-related matters. Exploring the connections between trauma and HD can improve therapeutic delivery and destigmatize the experience of dealing with clutter and hoarding concerns. This awareness can also provide health care professionals with both the language and skills to liberate them from a reductionist view on HD.

Keywords: hoarding, attachment, parental deprivation, trauma

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1017 D-Epi App: Mobile Application to Control Sodium Valproat Administration in Children with Idiopatic Epilepsy in Indonesia

Authors: Nyimas Annissa Mutiara Andini

Abstract:

There are 325,000 children younger than age 15 in the U.S. have epilepsy. In Indonesia, 40% of 3,5 millions cases of epilepsy happens in children. The most common type of epilepsy, which affects 6 out of 10 people with the disorder, is called idiopathic epilepsy and which has no identifiable cause. One of the most commonly used medications in the treatment of this childhood epilepsy is sodium valproate. Administration of sodium valproat in children has a problem to fail. Nearly 60% of pediatric patients known were mildly, moderately, or severely non-adherent with therapy during the first six months of treatment. Many parents or caregiver took far less medication than prescribed, and the treatment-adherence pattern for the majority of patients was established during the first month of treatment. 42% of the patients were almost always given their medications as prescribed but 13% had very poor adherence even in the early weeks and months of treatment. About 7% of patients initially gave the medication correctly 90% of the time, but adherence dropped to around 20% within six months of starting treatment. Over the six months of observation, the total missing of administration is about four out of 14 doses in any given week. This fail can cause the epilepsy to relapse. Whereas, current reported epilepsy disorder were significantly more likely than those never diagnosed to experience depression (8% vs 2%), anxiety (17% vs 3%), attention-deficit/hyperactivity disorder (23% vs 6%), developmental delay (51% vs 3%), autism/autism spectrum disorder (16% vs 1%), and headaches (14% vs 5%) (all P< 0.05). They had a greater risk of limitation in the ability to do things (relative risk: 9.22; 95% CI: 7.56–11.24), repeating a school grade (relative risk: 2.59; CI: 1.52–4.40), and potentially having unmet medical and mental health needs. In the other side, technology can help to make our life easier. One of the technology, that we can use is a mobile application. A mobile app is a software program we can download and access directly using our phone. Indonesians are highly mobile centric. They use, on average, 6.7 applications over a 30 day period. This paper is aimed to describe an application that could help to control a sodium valproat administration in children; we call it as D-Epi app. D-Epi app is a downloadable application that can help parents or caregiver alert by a timer-related application to warn whether it is the time to administer the sodium valproat. It works not only as a standard alarm, but also inform important information about the drug and emergency stuffs to do to children with epilepsy. This application could help parents and caregiver to take care a child with epilepsy in Indonesia.

Keywords: application, children, D-Epi, epilepsy

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1016 Theoretical and Experimental Study of Iron Oxide Thin Film

Authors: Fahima Djefaflia, M. Loutfi Benkhedir

Abstract:

The aim of this work was to development and characterisation of iron oxide thin films by spray pyrolysis technique. Influences of deposition parameters pile temperature on structural and optical properties have been studied Thin films are analysed by various techniques of materials. The structural characterization of films by analysis of spectra of X-ray diffraction showed that the films prepared at T=350,400,450 are crystalline and amorphous at T=300C. For particular condition, two phases hematiteFe2O3 and magnetite Fe3O4 have been observed.The UV-Visible spectrophotometer of this films confirms that it is possible to obtain films with a transmittance of about 15-30% in the visible range. In addition, this analysis allowed us to determine the optical gap and disorder of films. We conclude that the increase in temperature is accompanied by a reduction in the optical gap with increasing in disorder. An ab initio calculation for this phase shows that the results are in good agreement with the experimental results.

Keywords: spray pyrolysis technique, iron oxide, ab initio calculation, optical properties

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1015 Designing Interactive Applications for Social Anxiety Scenario Stories for Children with Autism

Authors: Wen Huei Chou, Yi-Ting Chen

Abstract:

Individuals with Autism Spectrum Disorder (ASD) often struggle with social interactions and communication. It is challenging for them to understand social cues such as facial expressions, body language, and tone of voice in social settings, leading to social conflicts and misunderstandings. Over time, feelings of frustration and anxiety can make them reluctant to engage in social situations and worsen their communication barriers. This study focused on children with autism who also experience social anxiety. Through focus group interviews with parents of children with autism and occupational therapists, it explores the reasons and scenarios behind the development of social anxiety in these children. Social scenario stories and interactive applications tailored for children with autism were designed and developed. In addition, working with the educational robots, coping strategies for various emotional situations were elaborated on, and children were helped to understand their emotions.

Keywords: autism spectrum disorder, social anxiety, robot, social scenario story, interactive applications

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1014 The Differences and Similarities in Neurocognitive Deficits in Mild Traumatic Brain Injury and Depression

Authors: Boris Ershov

Abstract:

Depression is the most common mood disorder experienced by patients who have sustained a traumatic brain injury (TBI) and is associated with poorer cognitive functional outcomes. However, in some cases, similar cognitive impairments can also be observed in depression. There is not enough information about the features of the cognitive deficit in patients with TBI in relation to patients with depression. TBI patients without depressive symptoms (TBInD, n25), TBI patients with depressive symptoms (TBID, n31), and 28 patients with bipolar II disorder (BP) were included in the study. There were no significant differences in participants in respect to age, handedness and educational level. The patients clinical status was determined by using Montgomery–Asberg Depression Rating Scale (MADRS). All participants completed a cognitive battery (The Brief Assessment of Cognition in Affective Disorders (BAC-A)). Additionally, the Rey–Osterrieth Complex Figure (ROCF) was used to assess visuospatial construction abilities and visual memory, as well as planning and organizational skills. Compared to BP, TBInD and TBID showed a significant impairments in visuomotor abilities, verbal and visual memory. There were no significant differences between BP and TBID groups in working memory, speed of information processing, problem solving. Interference effect (cognitive inhibition) was significantly greater in TBInD and TBID compared to BP. Memory bias towards mood-related information in BP and TBID was greater in comparison with TBInD. These results suggest that depressive symptoms are associated with impairments some executive functions in combination at decrease of speed of information processing.

Keywords: bipolar II disorder, depression, neurocognitive deficits, traumatic brain injury

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1013 Literature Review: The Efficacy of Play-Based Therapy Programs in Decreasing Core Symptoms of Autism Spectrum Disorder

Authors: Rozan El-Khateeb

Abstract:

This literature review examines the effectiveness of therapy programs that utilize play as an intervention for reducing symptoms associated with Autism Spectrum Disorder (ASD). Play-based therapy approaches provide a child-centered and developmentally appropriate framework to address the core symptoms of ASD, including social communication deficits, restricted and repetitive behaviors, and sensory sensitivities. The review explores various play-based therapy strategies and their impact on improving social skills, communication abilities, adaptive behaviors, and overall functioning in individuals with ASD. The findings suggest that play-based therapy programs hold promise as effective interventions for reducing symptoms and enhancing the quality of life for individuals with ASD. However, further research is necessary to establish standardized protocols, identify optimal dosage and duration, and evaluate long-term outcomes.

Keywords: autism, ABA, play, NET, systematic review

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1012 Cognitive Deficits and Association with Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder in 22q11.2 Deletion Syndrome

Authors: Sinead Morrison, Ann Swillen, Therese Van Amelsvoort, Samuel Chawner, Elfi Vergaelen, Michael Owen, Marianne Van Den Bree

Abstract:

22q11.2 Deletion Syndrome (22q11.2DS) is caused by the deletion of approximately 60 genes on chromosome 22 and is associated with high rates of neurodevelopmental disorders such as Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorders (ASD). The presentation of these disorders in 22q11.2DS is reported to be comparable to idiopathic forms and therefore presents a valuable model for understanding mechanisms of neurodevelopmental disorders. Cognitive deficits are thought to be a core feature of neurodevelopmental disorders, and possibly manifest in behavioural and emotional problems. There have been mixed findings in 22q11.2DS on whether the presence of ADHD or ASD is associated with greater cognitive deficits. Furthermore, the influence of developmental stage has never been taken into account. The aim was therefore to examine whether the presence of ADHD or ASD was associated with cognitive deficits in childhood and/or adolescence in 22q11.2DS. We conducted the largest study to date of this kind in 22q11.2DS. The same battery of tasks measuring processing speed, attention and spatial working memory were completed by 135 participants with 22q11.2DS. Wechsler IQ tests were completed, yielding Full Scale (FSIQ), Verbal (VIQ) and Performance IQ (PIQ). Age-standardised difference scores were produced for each participant. Developmental stages were defined as children (6-10 years) and adolescents (10-18 years). ADHD diagnosis was ascertained from a semi-structured interview with a parent. ASD status was ascertained from a questionnaire completed by a parent. Interaction and main effects of cognitive performance of those with or without a diagnosis of ADHD or ASD in childhood or adolescence were conducted with 2x2 ANOVA. Significant interactions were followed up with t-tests of simple effects. Adolescents with ASD displayed greater deficits in all measures (processing speed, p = 0.022; sustained attention, p = 0.016; working memory, p = 0.006) than adolescents without ASD; there was no difference between children with and without ASD. There were no significant differences on IQ measures. Both children and adolescents with ADHD displayed greater deficits on sustained attention (p = 0.002) than those without ADHD. There were no significant differences on any other measures for ADHD. Magnitude of cognitive deficit in individuals with 22q11.2DS varied by cognitive domain, developmental stage and presence of neurodevelopmental disorder. Adolescents with 22q11.2DS and ASD showed greater deficits on all measures, which suggests there may be a sensitive period in childhood to acquire these domains, or reflect increasing social and academic demands in adolescence. The finding of poorer sustained attention in children and adolescents with ADHD supports previous research and suggests a specific deficit which can be separated from processing speed and working memory. This research provides unique insights into the association of ASD and ADHD with cognitive deficits in a group at high genomic risk of neurodevelopmental disorders.

Keywords: 22q11.2 deletion syndrome, attention deficit hyperactivity disorder, autism spectrum disorder, cognitive development

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1011 Investigating the Expression of NR1/NR2 Receptors in Boys Between 6 to 16 with ADHD Compared to a Healthy Controlled Group

Authors: Sajad Haghshenas

Abstract:

Emerging evidence from clinical, genetic, and animal model studies suggests that the N-methyl-D-aspartate (NMDA) glutamate receptors (NMDAR) may contribute to the pathophysiology and aetiology of neurological and psychiatric disorders and the patients with impaired NMDR receptors experience psychological symptoms. Therefore, we hypothesised that NMDAR receptors play a key role in the development of attention deficit hyperactivity disorder (ADHD). In this comparative analytical study, we utilized western blotting method to assay the expression levels of NMDA subunits NR1 and NR2 in the blood plasma of 50 male individuals diagnosed with ADHD in comparison to 20 healthy controls. The findings from the western blotting analysis provide support for the hypothesis that individuals with ADHD exhibit significantly lower levels of NR1/2 receptors compared to those without the disorder. Further research is needed to explore the potential causal relationship between reduced NR1/NR2 receptor levels and the development of ADHD.

Keywords: expression, glutamate receptors, NR1, NR2, ADHD

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1010 Whole Exome Sequencing in Characterizing Mysterious Crippling Disorder in India

Authors: Swarkar Sharma, Ekta Rai, Ankit Mahajan, Parvinder Kumar, Manoj K Dhar, Sushil Razdan, Kumarasamy Thangaraj, Carol Wise, Shiro Ikegawa M.D., K.K. Pandita M.D.

Abstract:

Rare disorders are poorly understood hence, remain uncharacterized or patients are misdiagnosed and get poor medical attention. A rare mysterious skeletal disorder that remained unidentified for decades and rendered many people physically challenged and disabled for life has been reported in an isolated remote village ‘Arai’ of Poonch district of Jammu and Kashmir. This village is located deep in mountains and the population residing in the region is highly consanguineous. In our survey of the region, 70 affected people were reported, showing similar phenotype, in the village with a population of approximately 5000 individuals. We were able to collect samples from two multi generational extended families from the village. Through Whole Exome sequencing (WES), we identified a rare variation NM_003880.3:c.156C>A NP_003871.1:p.Cys52Ter, which results in introduction of premature stop codon in WISP3 gene. We found this variation perfectly segregating with the disease in one of the family. However, this variation was absent in other family. Interestingly, a novel splice site mutation at position c.643+1G>A of WISP3 gene, perfectly segregating with the disease was observed in the second family. Thus, exploiting WES and putting different evidences together (familial histories and genetic data, clinical features, radiological and biochemical tests and findings), the disease has finally been diagnosed as a very rare recessive hereditary skeletal disease “Progressive Pseudorheumatoid Arthropathy of Childhood” (PPAC) also known as “Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy” (SEDT-PA). This genetic characterization and identification of the disease causing mutations will aid in genetic counseling, critically required to curb this rare disorder and to prevent its appearance in future generations in the population. Further, understanding of the role of WISP3 gene the biological pathways should help in developing treatment for the disorder.

Keywords: whole exome sequencing, Next Generation Sequencing, rare disorders

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