Search results for: congenital 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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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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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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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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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

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

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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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Authors: Murray Anderson, Galina Freed, Karli Jahn

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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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Authors: Reema K. AlEssa, Sahar Alshomer, Abdullah Alfaleh, Sultan ALkhenaizan, Mohammed Albalwi

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Ichthyosis is a disorder of abnormal keratinization, characterized by excessive scaling, and consists of more than twenty subtypes varied in severity, mode of inheritance, and the genes involved. There is insufficient data in the literature about the epidemiology and characteristics of ichthyosis locally. Our aim is to identify the histopathological features and genetic profile of ichthyosis. Method: It is an observational retrospective case series study conducted in March 2020, included all patients who were diagnosed with Ichthyosis and confirmed by histological and molecular findings over the last 20 years in King Abdulaziz Medical City (KAMC), Riyadh, Saudi Arabia. Molecular analysis was performed by testing genomic DNA and checking genetic variations using the AmpliSeq panel. All disease-causing variants were checked against HGMD, ClinVar, Genome Aggregation Database (gnomAD), and Exome Aggregation Consortium (ExAC) databases. Result: A total of 60 cases of Ichthyosis were identified with a mean age of 13 ± 9.2. There is an almost equal distribution between female patients 29 (48%) and males 31 (52%). The majority of them were Saudis, 94%. More than half of patients presented with general scaling 33 (55%), followed by dryness and coarse skin 19 (31.6%) and hyperlinearity 5 (8.33%). Family history and history of consanguinity were seen in 26 (43.3% ), 13 (22%), respectively. History of colloidal babies was found in 6 (10%) cases of ichthyosis. The most frequent genes were ALOX12B, ALOXE3, CERS3, CYP4F22, DOLK, FLG2, GJB2, PNPLA1, SLC27A4, SPINK5, STS, SUMF1, TGM1, TGM5, VPS33B. Most frequent variations were detected in CYP4F22 in 16 cases (26.6%) followed by ALOXE3 6 (10%) and STS 6 (10%) then TGM1 5 (8.3) and ALOX12B 5 (8.3). The analysis of molecular genetic identified 23 different genetic variations in the genes of ichthyosis, of which 13 were novel mutations. Homozygous mutations were detected in the majority of ichthyosis cases, 54 (90%), and only 1 case was heterozygous. Few cases, 4 (6.6%) had an unknown type of ichthyosis with a negative genetic result. Conclusion: 13 novel mutations were discovered. Also, about half of ichthyosis patients had a positive history of consanguinity.

Keywords: ichthyosis, genetic profile, molecular characterization, congenital ichthyosis

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

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

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

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Authors: Pulari C. Milu Maria Anto

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Background: Cognitive Rehabilitation/Retraining has been variously used in the research literature to represent non-pharmacological interventions that target the cognitive impairments with the goal of ameliorating cognitive function and functional behaviors to optimize the quality of life. Along with adult’s cognitive impairments, the need to address acquired cognitive impairments (due to any chronic illnesses like CHD - congenital heart diseases or ALL - Acute Lymphoblastic Leukemia) among child populations is inevitable. Also, it has to be emphasized as same we consider the cognitive impairments seen in the children having neurodevelopmental disorders. Methods: All published brain image studies (Hermann, B. et al,2002, Khalil, A. et al., 2004, Follin, C. et al, 2016, etc.) and studies emphasizing cognitive impairments in attention, memory, and/or executive function and behavioral aspects (Henkin, Y. et al,2007, Bellinger, D. C., & Newburger, J. W. (2010), Cheung, Y. T., et al,2016, that could be identified were reviewed. Based on a systematic review of the literature from (2000 -2021) different brain imaging studies, increased risk of neuropsychological and psychosocial impairments are briefly described. Clinical and research gap in the area is discussed. Results:30 papers, both Indian studies and foreign publications (Sage journals, Delhi psychiatry journal, Wiley Online Library, APA PsyNet, Springer, Elsevier, Developmental medicine, and child neurology), were identified. Conclusions: In India, a very limited number of brain imaging studies and neuropsychological studies have done by indicating the cognitive deficits of a child having or undergone chronic illness. None of the studies have emphasized the relevance nor the need of implementingCR among such children, even though its high time to address but still not established yet. The review of the current evidence is to bring out an insight among rehabilitation professionals in establishing a child specific CR and to publish new findings regarding the implementation of CR among such children. Also, this study will be an awareness on considering cognitive aspects of a child having acquired cognitive deficit (due to chronic illness), especially during their critical developmental period.

Keywords: cognitive rehabilitation, neuropsychological impairments, congenital heart diseases, acute lymphoblastic leukemia, epilepsy, and neuroplasticity

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Authors: Nyimas Annissa Mutiara Andini

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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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Authors: Fahima Djefaflia, M. Loutfi Benkhedir

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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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Authors: Wen Huei Chou, Yi-Ting Chen

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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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Authors: Saidasanov Saidazal Shokhmurodovich, Topolnickiy Orest Zinovyevich, Afaunova Olga Arturovna

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Relevance: Bilateral congenital cleft is one of the most complex forms of all clefts, which makes it difficult to choose a surgical method of treatment. During primary operations to close the hard and soft palate, there is a shortage of soft tissues and their lack during standard uranoplasty, and these factors aggravate the period of rehabilitation of patients. Materials and methods: The results of surgical treatment of children with bilateral cleft, who underwent uranoplasty using a flap from the tongue, were analyzed. The study used methods: clinical and statistical, which allowed us to solve the tasks, based on the principles of evidence-based medicine. Results and discussion: in our study, 15 patients were studied, who underwent surgical treatment in the following volume: uranoplasty using a flap from the tongue in two stages. Of these, 9 boys and 6 girls aged 2.5 to 6 years. The first stage was surgical treatment in the volume: veloplasty. The second stage was a surgical intervention in volume: uranoplasty using a flap from the tongue. In all patients, the width of the cleft ranged from 1.6-2.8 cm. All patients in this group were orthodontically prepared. Using this method, the surgeon can achieve the following results: maximum narrowing of the palatopharyngeal ring, long soft palate, complete closure of the hard palate, alveolar process, and the mucous membrane of the nasal cavity is also sutured, which creates good conditions for the next stage of osteoplastic surgery. Based on the result obtained, patients have positive results of working with a speech therapist. In all patients, the dynamics were positive without complications. Conclusions: Based on our observation, tongue flap uranoplasty is one of the effective techniques for patients with wide clefts of the hard and soft palate. The use of a flap from the tongue makes it possible to reduce the number of repeated reoperations and improve the quality of social adaptation of this group of patients, which is one of the important stages of rehabilitation. Upon completion of the stages of rehabilitation, all patients had the maximum improvement in functional, anatomical and social indicators.

Keywords: congenital cleft lips and palate, bilateral cleft, child surgery, maxillofacial surgery

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Authors: Boris Ershov

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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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Authors: Rozan El-Khateeb

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

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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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Authors: Lokvendra S. Budania, Yogesh K Gaude, Vamsidhar Chamala

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Introduction: Congenitally corrected transposition of great arteries (CCTGA) is a complex congenital heart disease where there are both atrioventricular and ventriculoarterial discordances, usually accompanied by other cardiovascular malformations. Case Report: A 24-year-old primigravida known case of CCTGA at 37 weeks of gestation was referred to our hospital for safe delivery. Her electrocardiogram showed HR-40/pm, echocardiography showed Ejection Fraction of 65% and CCTGA. Temporary pacemaker was inserted by cardiologist in catheterization laboratory, before giving trial of labour in view of complete heart block. She was planned for normal delivery, but emergency Caesarean section was planned due to non-reassuring foetal Cardiotocography Pre-op vitals showed PR-50 bpm with temporary pacemaker, Blood pressure-110/70 mmHg, SpO2-99% on room air. Nil per oral was inadequate. Patency of two peripheral IV cannula checked and left radial arterial line secured. Epidural Anaesthesia was planned, and catheter was placed at L2-L3. Test dose was given, Anaesthesia was provided with 5ml + 5ml of 2% Lignocaine with 25 mcg Fentanyl and further 2.5Ml of 0.5% Bupivacaine was given to achieve a sensory level of T6. Cesarean section was performed and baby was delivered. Cautery was avoided during this procedure. IV Oxytocin (15U) was added to 500 mL of ringer’s lactate. Hypotension was treated with phenylephrine boluses. Patient was shifted to post-operative care unit and later to high dependency unit for monitoring. Post op vitals remained stable. Temporary pacemaker was removed after 24 hours of surgery. Her post-operative period was uneventful and discharged from hospital. Conclusion: Rare congenital cardiac disorders require detail knowledge of pathophysiology and associated comorbidities with the disease. Meticulously planned and carefully titrated neuraxial techniques will be beneficial for such cases.

Keywords: congenitally corrected transposition of great arteries, complete heart block, emergency LSCS, epidural anaesthesia

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Authors: Sajad Haghshenas

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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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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.

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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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Authors: Jennie Long, Marjorie Bock

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Although the professional literature related to Autism Spectrum Disorder (ASD) has focused on successful interventions and strategies, there is a lack of documentation regarding which of these methods and supports are most foundational and essential for classroom use. Specifically, literature does not define the core foundational interventions and strategies that would be elemental for educators to use with students with an ASD diagnosis. From the increase in prevalence of autism spectrum disorders, to the challenge students with ASD pose in classrooms, to the requirement to implement evidence-based practice, rises an enormous challenge in the field of education. Foundational interventions should be in place the first day the student enters the classroom. The nine interventions are foundational in nature and because of the dramatic increase in prevalence there is currently a need for classroom programs to provide the foundation of basic educational skills as well as the specialty skills specific to the area of ASD utilizing the most current research. This article presents nine evidence-based intervention categories for implementation with students on the spectrum.

Keywords: autism spectrum disorder, classroom, evidence-based, foundational

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Authors: Annabel Burnley, Michelle St. Clair, Charlotte Dack, Yvonne Wren

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Children with Developmental Language Disorder (DLD) are well documented to experience social and emotional difficulties. Despite this, there is little consensus as to how these difficulties manifest, without which the ability to develop prevention initiatives is limited. An online survey was completed by 107 parents of either child with DLD (‘DLD sample’; n=57), or typically developing children (‘typical sample’; n=50), all aged 6-12 years old. Psychosocial symptom measures were used, alongside 11 psychosocial statements generated from previous qualitative work. Qualitative interviews were then held to understand the manifestation of key difficulties in more depth (n=4). The DLD sample scored significantly higher on all psychosocial statements than the typical sample. Experiencing anxiety (80.7%), requiring routine and sameness (75.4%) and struggling to regulate their emotions (75.4%) were the most common difficulties for a majority of children with DLD. For this DLD sample, family communication and coping styles were found not to contribute to the manifestation of these difficulties. Two separate mediation models were run to understand the role of other psychosocial difficulties in the manifestation of (1) anxiety and (2) social frustration. ‘Intolerance of uncertainty was found to strongly mediate the relationship between DLD diagnosis and symptoms of anxiety. Emotion regulation was found to moderately mediate the relationship between DLD diagnosis and social frustration. Parents appear to cope well with their children’s complex psychosocial needs, but further external intervention is needed. Intervention focussing on intolerance of uncertainty and emotion dysregulation may help the management of anxiety and social frustration. Further research is needed to understand the children’s routined behaviors.

Keywords: psychosocial difficulties, developmental language disorder, specific language impairment, parent, anxiety

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Authors: Sidika McNeil

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Borderline personality disorder (BPD) is a personality disorder that has been found to have strong origins in childhood trauma. One of the key symptoms of BPD is an association with irregular moods swings, as well as suicidal ideation (SI). Owing to the typically severe trauma patients experience during childhood, it is hard for them to control their emotions and thus makes it hard to emotionally regulate. It is then very common for those suffering from BPD to turn to unhealthy coping mechanisms, such as substance use, unhealthy relationships, and more, often unsuccessfully creating experiences that facilitate safety which leads to further negative experiences. With the high suicide rating among children, adolescents, and teens, and an ever-increasing number of children being diagnosed with BPD, it is very important that more research is done to find further treatments for patients who are currently suffering. Methods: Utilizing data found in prior studies, this paper will analyze the literature to focus on a comprehensive treatment plan for those with DBT. It is currently suggested that with the use of dialectical behavioral therapy (DBT), a therapy that focuses on changing negative thinking patterns and pushes for more positive ones is helpful for treatment for those with BPD. Though this therapy is not a cure to BPD, it does help mitigate the risk; this essay will explore other options that can further the treatment process, such as cognitive analytical therapy (CAT), which focuses on delving into the past to find the root causes of an issue to create coping strategies and harm reduction, a type of therapy used to aid patients in lowering the use of substances without complete cessation. Results: The research provides enough evidence to link between the treatment of BPD with the utilization of CAT.

Keywords: borderline personality disorder, cognitive analytical therapy, dialectical behavioral therapy, harm reduction, suicidal ideation

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Authors: Masahiro Nochi

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This study explores the process in which a Japanese child with congenital blindness deepens understanding of the condition of being “unable to see” and develops the idea of “blind self,” despite having no direct experience of vision. The rehabilitation activities of a child with a congenital visual impairment that were video-recorded from 1 to 6 years old were analyzed qualitatively. The duration of the video was about 80 hours. The recordings were transcribed verbatim, and the episodes in which the child used the words related to the act of “looking” were extracted. Detailed transcripts were constructed referencing the notations of conversation analysis. Characteristics of interactions in those episodes were identified and compared longitudinally. Results showed that the child used the expression "look" under certain interaction patterns and her body expressions and interaction with adults developed in conjunction with the development of language use. Four stages were identified. At the age of 1, interactions involving “look” began to occur. The child said "Look" in the sequence: the child’s “Look,” an adult’s “I’m looking,” certain performances by the child, and the adult’s words of praise. At the age of 3, the child began to behave in accordance with the spatial attributes of the act of "looking," such as turning her face to the adult’s voice before saying, “Look.” She also began to use the expression “Keep looking,” which seemed to reflect her understanding of the temporality of the act of “looking.” At the age of 4, the use of “Look” or “Keep looking” became three times more frequent. She also started to refer to the act of looking in the future, such as “Come and look at my puppy someday.” At the age of 5, she moved her hands toward the adults when she was holding something she wanted to show them. She seemed to understand that people could see the object more clearly when it was in close priximity. About that time, she began to say “I cannot see” to her mother, which suggested a heightened understanding of her own blindness. The findings indicate that as she grew up, the child came to utilize nonverbal behavior before and after the order "Look" to make the progress of the interaction with adults even more certain. As a result, actions that reflect the characteristics of the sighted person's visual experience were incorporated into the interaction chain. The purpose of "Look," with which she intended to attract the adult's attention at first, changed and became something that requests a confirmation she was unable to make herself. It is considered that such a change in the use of the word as well as interaction with sighted adults reflected her heightened self-awareness as someone who could not do what sighted people could do easily. A blind child can gradually deepen their understanding of their own characteristics of blindness among sighted people around them. The child can also develop “blind self” by learning how to interact with others even without direct visual experiences.

Keywords: blindness, child development, conversation analysis, self-concept

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Authors: Abdulwahhab Khedr, Tamer Shehata, Hanaa El-Ghamry

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Venlafaxine HCl is a novel antidepressant drug used in the treatment of major depressive disorder, generalized anxiety disorder, social anxiety disorder and panic disorder. Conventional therapeutic regimens with venlafaxine HCl immediate-release dosage forms require frequent dosing due to short elimination half-life of the drug and reduced bioavailability. Hence, this study was carried out to develop sustained-release dosage forms of venlafaxine HCl to reduce its dosing frequency, to improve patient compliance and to reduce side effects of the drug. The polymers used were hydroxypropylmethyl cellulose, xanthan gum, sodium alginate, sodium carboxymethyl cellulose, Carbopol 940 and ethyl cellulose. The physical properties of the prepared tablets including tablet thickness, diameter, weight uniformity, content uniformity, hardness and friability were evaluated. Also, the in-vitro release of venlafaxine HCl from different matrix tablets was studied. Based on physical characters and in-vitro release profiles, certain formulae showing promising sustained-release profiles were subjected to film coating with 15% w/v EC in dichloromethane/ethanol mixture (1:1 ratio) using 1% w/v HPMC as pore former and 30% w/w dibutyl phthalate as plasticizer. The optimized formulations were investigated for drug-excipient compatibility using FTIR and DSC studies. Physical evaluation of the prepared tablets fulfilled the pharmacopoeial requirements for tablet friability test, where the weight loss of the prepared formulae did not exceed 1% of the weight of the tested tablets. Moderate release was obtained from tablets containing HPMC. FTIR and DSC studies for such formulae revealed the absence of any type of chemical interaction between venlafaxine HCl and the used polymers or excipients. Forced swimming test in rats was used to evaluate the antidepressant activity of the selected matrix tablets of venlafaxine HCl. Results showed that formulations significantly decreased the duration of animals’ immobility during the 24 hr-period of the test compared to non-treated group.

Keywords: antidepressant, sustained-release, matrix tablet, venlafaxine hydrochloride

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Authors: Ardiana Murtezani, Ilirijana Dallku, Teuta Osmani Vllasolli, Sabit Sllamniku

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Background: The use of foot orthoses are always indicated when there are alterations of the optimal biomechanics' position of the foot. Orthotics are very effective and very suitable for the majority of patients with pain due to overload which can be related to biomechanical disorders. Aim: To assess the frequency of patients requiring foot orthoses, type of orthoses and analysis of their disease leading to the use of foot orthoses. Material and Methods: Our study included 128 patients with various foot pathologies, treated at the outpatient department of the Ortho-Prosthetic Center of Kosovo (OPCK) in Prishtina. Prospective-descriptive clinical method was used during this study. Functional status of patients was examined, and the following parameters are noted: range of motion measurements for the affected joints/lower extremities, manual test for muscular strength below the knee and foot of the affected extremity, perimeter measurements of the lower extremities, measurements of lower extremities, foot length measurement, foot width measurements and size. In order to complete the measurements the following instruments are used: plantogram, pedogram, meter and cork shoe lift appliances. Results: The majority of subjects in this study are male (60.2% vs. 39.8%), and the dominant age group was 0-9 (47.7%), 61 subjects respectively. Most frequent foot disorders were: congenital disease 60.1%, trauma cases 13.3%, consequences from rheumatologic disease 12.5%, neurologic dysfunctions 11.7%, and the less frequented are the infectious cases 1.6%. Congenital anomalies were the most frequent cases, and from this group majority of cases suffered from pes planovalgus (37.5%), eqinovarus (15.6%) and discrepancies between extremities (6.3%). Furthermore, traumatic amputations (2.3%) and arthritis (0.8%). As far as neurologic disease, subjects with cerebral palsy are represented with (3.1%), peroneal nerve palsy (2.3%) and hemiparesis (1.6%). Infectious disease osteomyelitis sequels are represented with (1.6%). Conclusion: Based on our study results, we have concluded that the use of foot orthoses for patients suffering from rheumatoid arthritis and nonspecific arthropaty was effective treatment choice, leading to decrease of pain, less deformities and improves the quality of life.

Keywords: orthoses, epidemiological analysis, rheumatoid arthritis, rehabilitation

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Authors: Mohammad Ibrahim

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The study was conducted at Albasar international foundation ophthalmic hospitals in Sudan to study the burden and patterns of ophthalmic disorder in the sector. Review of the hospitals records revealed that the total number of patient examined in the hospitals and outreached camps conducted by the hospitals is 10,513,874, the total number of surgeries is 694,015 and the total number of pupils at school program is 230,382. The organization working with the highest management system and standards and quality result based planning. The study yielded that the ophthalmic problem in Sudan are of great percentage and the temporal blindness disorder are high since major cases and surgeries were Cataract (57.8%). Retinal problem (2.9%), Glaucoma (2.4%), Orbit and Occulo-plastic disorders (2.2%) other disorders are refractive errors, squint and strabismus, Corneal, Pediatrics and minor ophthalmic disorders.

Keywords: hospitals and outreach ophthalmic services, largest coverage of ophthalmic services, nonprofitable ophthalmic services, strong management system and standards

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Authors: Aikaterini Tavoulari

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This research aims to address the types of repetitive behaviours (RBs) observed by adults in children with vision impairment (VI) or autism spectrum disorder (ASD), the explanations the adults employ to interpret these behaviours, and the impact RBs have on the child, the caregiver, the professional and society. The underlying reason for this is an attempt to discover any potential differences between two different disabilities in a comparative fashion. The study is based on the interpretivism paradigm and follows a qualitative approach. A comparative case study design based on the ecological systems theory (EST) is adopted. Thirty-five caregivers and accredited professionals were recruited (17 for the VI group, out of whom 8 were caregivers and 9 were professionals, and 18 for the ASD group, out of whom 9 were caregivers and 9 were professionals). Following the completion of a pilot study, all participants were interviewed regarding one specific child – their own child/student – via semi-structured interviews. During the interviews, the researcher used a research diary as a methodological tool and video elicitation as a facilitation tool. A cross-case analysis was conducted, and data were analysed according to the method of thematic analysis. A link has been indicated between VI and ASD, which concerns perceptions about the socially constructed manner in which an RB is perceived. ASD is perceived by the participants as a disability with challenging characteristics, such as an RB. The ASD group perceived RB as linked to ableism, social stigmatisation, and taboo, in contrast to VI, where the existence of RB seems to be a consequence of sensory loss. Bi-directionality of EST seems to have been lost completely, and the macrosystem seems to drive the interactions between the ecological systems.

Keywords: ableism, social stigma, disability, repetitive behaviour, vision impairment, autism spectrum disorder, perceptions

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Authors: Rohit Kumar Shrivastava, Amalia Thomas, Nathalie Vriend, Stefan Luding

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A mechanical wave or vibration propagating through granular media exhibits a specific signature in time. A coherent pulse or wavefront arrives first with multiply scattered waves (coda) arriving later. The coherent pulse is micro-structure independent i.e. it depends only on the bulk properties of the disordered granular sample, the sound wave velocity of the granular sample and hence bulk and shear moduli. The coherent wavefront attenuates (decreases in amplitude) and broadens with distance from its source. The pulse attenuation and broadening effects are affected by disorder (polydispersity; contrast in size of the granules) and have often been attributed to dispersion and scattering. To study the effect of disorder and initial amplitude (non-linearity) of the pulse imparted to the system on the coherent wavefront, numerical simulations have been carried out on one-dimensional sets of particles (granular chains). The interaction force between the particles is given by a Hertzian contact model. The sizes of particles have been selected randomly from a Gaussian distribution, where the standard deviation of this distribution is the relevant parameter that quantifies the effect of disorder on the coherent wavefront. Since, the coherent wavefront is system configuration independent, ensemble averaging has been used for improving the signal quality of the coherent pulse and removing the multiply scattered waves. The results concerning the width of the coherent wavefront have been formulated in terms of scaling laws. An experimental set-up of photoelastic particles constituting a granular chain is proposed to validate the numerical results.

Keywords: discrete elements, Hertzian contact, polydispersity, weakly nonlinear, wave propagation

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Authors: Smriti Gour, Neelam Pandey

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The objective of this study was to describe and analyse the mutual relationship between the coping mechanisms used by the families of a child with Autism Spectrum Disorder (ASD) and family dynamics and the effect sibling interactions have on the dynamics and coping mechanisms in an urban setup. In-depth interviews were conducted for 25 families, with 4 members each in the Delhi NCR area in India. The families who were interviewed had a younger child who had received a diagnosis of ASD between the ages of 5-12. The in-depth questionnaires contained open-ended questions and the interviews were conducted separately for the mother, father and the typically developing sibling. The key findings of the study suggested that lack of communication was a common factor in most families (n=19) leading to other difficulties like stress and relationship dysfunction. It also fostered a fallacious perception of the relationship dynamics in the family in most of the interviewed families and changed depending on the family member being interviewed. In families where the typically developing elder sibling had a good relationship with the autistic child, the family dynamics were found to be more stable, and the overall family well-being was better maintained. The coping mechanisms employed by the families were also more positive and tended to work better if the typically developing sibling maintained a positive and interactive relationship with the parents and the autistic child. The type of coping mechanisms had a major impact on the relationship between the parents and in dictating the dynamics of the family of the child with ASD. Spirituality, professional help, family support and household help emerged to be the most effective coping mechanisms for the families, with spirituality emerging to be the most positive and effective coping mechanism in the families interviewed.

Keywords: autism spectrum disorder, coping mechanism, family dynamics, parental relationships, siblings

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