Search results for: management and developmental disorders

Authors: Denis Nono, Catherine Abbo, Thomas Wenzel

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Introduction: The study explored socio-cultural perspectives of childhood disorders and its implications for health seeking. Emphasis was on exploring local understanding and perceptions and how these ideas affect health seeking. Study aim: To explore the socio-cultural perspectives of neuro-developmental disorders and its implications on health seeking behaviour. Methods: The methods used in this study included key informant interviews conducted with health professionals. Parents of the children aged (6-15 years) with neuro-developmental disorders were recruited from the hospital to participate in focus group discussion, participant observation and individual in-depth interviews. Results: The study found out that stigma extended from children to parents and caregivers who were also shunned by community members. Participants described their children as “a gift from God” others described them as “a test from God”. The communities perceive the disorders as a spiritual infliction and always insisted that the children be taken for Acholi cultural and traditional rituals to cleanse children and they believed that mental illness has spiritual linkages. Conclusion: This study gives unique insights into the perceptions of neuro-developmental disorders and health seeking behavior in Gulu District and neighboring communities. The results showed that communities linked disorders to spiritual affliction, misunderstandings between families, bewitching, and other supernatural forces. Some of the participants highly recommended biomedical approaches to prevention, management and control of the disorders.

Keywords: ethnography, health seeking, neuro-developmental disorders, socio-cultural

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Authors: Florence A. Undiyaundeye, Aniashie Akpanke

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Early identification of developmental disorders in infants and toddlers is critical for the well being of children. It is also an integral function of the primary care medical provider and the early care given in the home or crèche. This paper is focused at providing information on special need infants and toddlers and strategies to support them in developmental concern to cope with the challenges in and out of the classroom and to interact with their peers without stigmatization and inferiority complex. The target children are from birth through three years of age. There is a strong recommendation for developmental surveillance to be incorporated at every well child preventive care program in training and practical stage of formal school settings. The paper posits that any concerns raised during surveillance should be promptly addressed with standardized developmental screening by appropriate health service providers. In addition screening tests should be administered regularly at age 9+, 19+ and 30 months of these infants. The paper also establishes that the early identification of these developmental challenges of the infants and toddlers should lead to further developmental and medical evaluation, diagnosis and treatment, including early developmental school intervention, control and teaching and learning integration and inclusion for proper career build up. Children diagnosed with developmental disorders should be identified as children with special needs so that management is initiated and its underlying etiology may also drive a range of treatment of the child, to parents. Conselling and school integration as applicable to the child’s specific need and care for sustenance in societal functioning.

Keywords: care, special need, support, infants and toddlers, management and developmental disorders

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Authors: Swapna N., Deepthy Ann Joy

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One of the major causes of communication disorders in pediatric population is Motor speech disorders. These disorders which affect the motor aspects of speech articulators can have an adverse effect on the communication abilities of children in their developmental period. The motor aspects are dependent on the sensory abilities of children with motor speech disorders. Hence, oral sensorimotor evaluation is an important component in the assessment of children with motor speech disorders. To our knowledge, the importance of oral motor examination has been well established, yet the sensory assessment of the oral structures has received less focus. One of the most common motor speech disorders seen in children is developmental dysarthria. The present study aimed to assess the orosensory aspects in children with developmental dysarthria (CDD). The control group consisted of 240 children in the age range of four and eight years which was divided into four subgroups (4-4.11, 5-5.11, 6-6.11 and 7-7.11 years). The experimental group consisted of 15 children who were diagnosed with developmental dysarthria secondary to cerebral palsy who belonged in the age range of four and eight years. The oro-sensory aspects such as response to touch, temperature, taste, texture, and orofacial sensitivity were evaluated and profiled. For this purpose, the authors used the ‘Oral Sensorimotor Evaluation Protocol- Children’ which was developed by the authors. The oro-sensory section of the protocol was administered and the clinical profile of oro-sensory abilities of typically developing children and CDD was obtained for each of the sensory abilities. The oro-sensory abilities of speech articulators such as lips, tongue, palate, jaw, and cheeks were assessed in detail and scored. The results indicated that experimental group had poorer scores on oro-sensory aspects such as light static touch, kinetic touch, deep pressure, vibration and double simultaneous touch. However, it was also found that the experimental group performed similar to control group on few aspects like temperature, taste, texture and orofacial sensitivity. Apart from the oro-motor abilities which has received utmost interest, the variation in the oro-sensory abilities of experimental and control group is highlighted and discussed in the present study. This emphasizes the need for assessing the oro-sensory abilities in children with developmental dysarthria in addition to oro-motor abilities.

Keywords: cerebral palsy, developmental dysarthria, orosensory assessment, touch

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Authors: Sung Hyun Kim

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Introduction: Sleep disturbance is common in children with developmental disorders (D.D.). Sleep disturbance has a variety of negative effects, such as behavior problems, medical problems, and even developmental problems in children with D.D. However, to our best knowledge, there has been no proper treatment for sleep disorders in children with D.D. Therefore, we conduct this study to know the positive effects of intensive rehabilitation therapy in children with D.D. on the degree of sleep disturbance. Method: We prospectively recruited 22 patients with a diagnosis of D.D. during the period of January 2022 through May 2022. The inclusion criteria were as follows: 1) a patient who would participate in the intensive rehabilitation therapy of our institution; 2) the age participant under 18 years at the time of assessment; 3) a child who has consented to participate in the study by signing the consent form by the legal guardian. We investigated the clinical characteristics of participants by the medical record, including sex, age, underlying diagnosis of D.D., and Gross Motor Function Measures (GMFM). Before starting the intensive rehabilitation therapy, we conducted a Sleep disturbance scale for children (SDSC). It contains 26 questions about children’s sleep, and those questions are grouped into six subscales, such as Disorders of initiating and maintaining sleep (DIMS), Sleep Breathing Disorders(SBD), Disorders of arousal(DOA), Sleep-Wake Transition Disorders(SWTD), Disorders of excessive somnolence(DOES) and Sleep Hyperhydrosis(SHY). We used the t-score, which was calculated by comparing the scores of normal children. Twenty two patients received 8 weeks of intensive rehabilitation, including daily physical and occupational therapy. After that, we did follow up with SDSC. The comparison between SDSC before and after intensive rehabilitation was calculated using the paired t-test, and P< 0.05 was considered statistically significant. Results: Demographic data and clinical characteristics of 22 patients are enrolled. Patients were 4.03 ± 2.91 years old, and of the total 22 patients, 14 (64%) were male, and 8 (36%) were female. Twelve patients(45%) were diagnosed with Cerebral palsy(C.P.), and the mean value of participants’ GMFM was 47.82 ± 20.60. Each mean value of SDSC’s subscales was also calculated. DIMS was 62.36 ± 13.72, SBD was 54.18 ± 8.39, DOA was 49.59 ± 7.01, SWTD was 58.95 ± 9.20, DOES was 53.09 ± 15.15, SHY was 52.14 ± 8.82, and the total was 59.86 ± 13.18. These values suggest that children with D.D. have sleep disorders. After 8 weeks of intensive rehabilitation treatment, the score of DIMS showed improvement(p=0.016), but not the other subscale and total score of SDSC. Conclusion: This result showed that intensive rehabilitation could be helpful to patients of D.D. with sleep disorders. Especially intensive rehabilitation therapy itself can be a meaningful treatment in inducing and maintaining sleep.

Keywords: sleep disorder, developmental delay, intensive rehabilitation therapy, cerebral palsy

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Authors: Rudinë Fetahaj, Flaka Isufi, Kristina Hansson

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While evidence shows that in most European countries’ multilingualism is rising, unfortunately, the focus of Speech and Language Therapy (SLT) is still monolingualism. Furthermore, there is sparse information on how the needs of multilingual children with language disorders such as Developmental Language Disorder (DLD) are being met and which factors affect the intervention approach of SLTs when treating DLD. This study aims to examine the relationship and correlation between the number of languages SLTs speak, years of experience, and length of education with the advice they give to parents of multilingual children with DLD regarding which language to be spoken. This is a cross-sectional study where a survey was completed online by 2608 SLTs across Europe and data has been used from a 2017 COST-action project. IBM-SPSS-28 was used where descriptive analysis, correlation and Kruskal-Wallis test were performed.SLTs mainly advise the parents of multilingual children with DLD to speak their native language at home. Besides years of experience, language status and the level of education showed to have no association with the type of advice SLTs give. Results showed a non-significant moderate positive correlation between SLTs years of experience and their advice regarding the native language, whereas language status and length of education showed no correlation with the advice SLTs give to parents.

Keywords: quantitative study, developmental language disorders, multilingualism, speech and language therapy, children, European context

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Authors: Abeer Mohammed, Nevein Mustafa Elashery, Mona Hassan Abdel Aal, Ereny Wilson Nagib

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The Aim of the current study is to investigate nutrition role in the management of psychiatric disorders. Research Design: A quasi- experimental research design was utilized for this study. Setting The study was conducted at outpatient clinic at Institute of Psychiatry affiliated to Ain Shams University hospitals, using a convenient sample of 50 psychiatric patients with depression, schizophrenia, bipolar disorders, and obsessive compulsive disorders. Tools: data were collected through; first, an interview questionnaire covering socio-demographic characteristics, second, nutrition assessment tools Third, nutrition risk assessment. Fourth, nutrition management program Results showed that there were highly statistically significant improvements in modified nutritional supplements for patients with depression, schizophrenia, bipolar disorders, and obsessive compulsive disorders' patients after conducting the nutrition management program. Regarding psychiatric patients’ knowledge about healthy food, healthy nutritional habits, and patients’ awareness & readiness for change, there were highly statistically significant improvements. Concerning signs and symptoms of psychiatric disorders, there were highly statistically significant improvements for depression, schizophrenia, bipolar disorders, and obsessive-compulsive patients after conducting the management program. In conclusion, the nutrition management program was effective in improving symptoms associated with, depression, schizophrenia, bipolar disorders, and obsessive compulsive disorders. The study recommended that nurses should have more contribution in counseling psychiatric patients, and their families about healthy diet and healthy habits. Further research should recommend studying the effectiveness of herbs on enhancing mental health for psychiatric patients.

Keywords: nutrition, role, management, psychiatric disorders

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Authors: Linghua Kong, Xinxia Chen, Mika Gissler, Catharina Lavebratt

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Background: Prenatal exposure to preeclampsia has been associated with an increased risk of offspring attention-deficit/hyperactivity disorders (ADHD), autism spectrum disorder (ASD), and intellectual disability. However, little is known about the association between prenatal exposure to severe preeclampsia and neurodevelopmental and psychiatric disorders in offspring. Objective: This study aimed to assess the risk of maternal preeclampsia combined with perinatal problems, specifically low birth weight and prematurity, on offspring neuropsychiatric disorders. Methods: All singleton live births in Finland between 1996 and 2014 (n=1 012 723) were followed up in nation-wide registries until 2018. Main exposures included pre-eclampsia, small for gestational age, and delivery before 34 gestational weeks. Offspring neurodevelopmental and psychiatric disorders (ICD-10 codes) were examined as outcomes variables. Offspring birth year, sex, maternal age at delivery, parity, marital status at birth, mother's country of birth, maternal smoking, maternal gestational diabetes, maternal use of psychotropic medication during pregnancy, and maternal systemic inflammatory diseases were used as covariates. Risks for neurodevelopmental and psychiatric disorders were estimated using Cox proportional hazards modeling. Results: Of the 1 012 723 offspring, 25 901 (2.6%) were exposed to preeclampsia, and 93 281 (9.2%) were diagnosed with a neuropsychiatric disorder. Compared to births unexposed to preeclampsia, small for gestational age or delivery before 34 gestational weeks, those exposed to preeclampsia only had a 21% increase in the likelihood of any neuropsychiatric disorders after adjusting for potential confounding (adjusted HR=1.21, 95% CI: 1.15-1.26), while exposure to preeclampsia combined with small for gestational age or delivery before 34 gestational weeks had a more than twofold increased risk of having a child with neuropsychiatric disorders (adjusted HR=2.16, 95% CI: 2.02-2.32). The adjusted HR for neuropsychiatric disorders in offspring with small for gestational age or delivery before 34 gestational weeks only was 1.79 (95% CI: 1.73-1.83). In addition, the risk estimate in offspring exposed to both preeclampsia and perinatal problems was greater than those only exposed to preeclampsia for having personality disorders (adjusted HR=1.66; 95% CI: 1.07-2.57), intellectual disabilities (adjusted HR=3.47; 95% CI: 2.86-4.22), specific developmental disorders (adjusted HR=2.91; 95% CI: 2.69-3.15), ASD (adjusted HR=1.75; 95% CI: 1.42-2.17), ADHD and conduct disorders (adjusted HR=2.00; 95%CI: 1.76-2.27), and other behavioral and emotional disorders (adjusted HR=2.09; 95% CI: 1.84-2.37). Conclusion: In utero exposure to severe preeclampsia increased the risk of several neurodevelopmental and psychiatric disorders in offspring. Our findings are relevant to women with hypertensive disorders with regard to pregnancy consultation and management and may yield effective clues for the prevention of neurodevelopmental and psychiatric disorders in childhood.

Keywords: low birth weight, neurodevelopmental disorders, preeclampsia, prematurity, psychiatric disorders

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Authors: Kusmayadi Ita Nursita, Sundoro Ali

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Cleft lip and palate are one of the most common congenital abnormalities in the face. It could happen to anyone, but mostly affect Asian population including Indonesia. Factors that influence the occurrence of cleft lip and palate vary from genetic to environmental factors. Children with cleft lip and palate will often have various problems such as airway disorders, eating disorders, speech and language developmental disorders, hearing disorders and psycho-social disorders, one of which is caused by appearance disorders. During his life, the child will experience multidisciplinary surgery and non-surgical treatment and can be accompanied by a psychological and financial burden on himself and his family. In Indonesia, there are no detailed scientific data on the prevalence and characteristic of cleft lip and palate patients. It was mainly caused by the absence of a national level organization, differences in geographical location, and the absence of national guidelines. This study aimed to describe the characteristic and prevalence of cleft lip and palate patients in Bandung Cleft Lip and Palate Center from 1 January 2016 to 31 December 2017. A total of 560 patients were included in the study. The highest percentage of cases are left unilateral cleft lip and palate with higher number of female patient and labioplasty as the most often surgical procedure to be conducted in Bandung Cleft Lip and Palate Center. In order to improve quality of life in patients with cleft lip and palate, early recognition and early treatment based on actual comprehensive data should be conducted. The data from Bandung Cleft Lip and Palate Center as one of the largest center of cleft lip and palate in West Java Indonesia hopefully could provide a big step of further comprehensive data collection in Indonesia and for the better overall management of cleft lip and palate in the future.

Keywords: cleft lip, cleft palate, characteristic, prevalence

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Authors: Asha Dukkipati

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Cognitive neuroscience explores neural functioning and aberrant brain activity during cognitive and perceptual tasks. Neurocinematics is a subfield of cognitive neuroscience that observes neural responses of individuals watching a film to see similarities and differences between individuals. This method is typically used for commercial use, allowing directors and filmmakers to produce better visuals and increasing their results in the box office. However, neurocinematics is increasingly becoming a common tool for neuroscientists interested in studying similar patterns of brain activity across viewers outside of the film industry. In this review, it argue that neurocinematics provides an easy, naturalistic approach for studying and diagnosing learning disorders. While the neural underpinnings of developmental learning disorders are traditionally assessed with well-established methods like EEG and fMRI that target particular cognitive domains, such as simple visual and attention tasks, there is initial evidence and theoretical background in support of neurocinematics as a biomarker for learning differences. By using ADHD, dyslexia, and autism as case studies, this literature review discusses the potential advantages of neurocinematics as a new tool for learning disorders research.

Keywords: behavioral and social sciences, neuroscience, neurocinematics, biomarkers, neurobehavioral disorders

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Authors: Andrew Anis Fakhrey Mosaad

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Introduction: There are many different types of sleep disorders, each with serious implications for a person's health and a large financial burden on society. Method: This review offers a framework based on the International Classification of Sleep Disorders to aid in the diagnosis and treatment of sleep disorders. Differentiating between primary and secondary insomnia is covered, along with pharmacological and nonpharmacological therapy options. Common abnormalities of the circadian rhythm are mentioned along with their therapies, such as light therapy and chronotherapy. This article discusses the identification and management of periodic limb movement disorder and restless legs syndrome. The therapy of upper airway resistance syndrome and obstructive sleep apnea are the main topics of discussion. Conclusion: The range of narcolepsy symptoms and results, as well as diagnostic procedures and treatment, are discussed. The causes, outcomes, and treatments of many types of insomnias, such as sleep terrors, somnambulism, and rapid eye movement (REM) behavior sleep disorders, are discussed.

Keywords: diagnosis, treatment, sleep disorders, insomnia

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Authors: P. Mbecke

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Developmental social welfare implemented through developmental social work is being applauded internationally as an approach that facilitates social development theory and practice. However, twenty-two years into democracy, there are no tangible evidences that the much-desired developmental social welfare approach has assisted the post-apartheid macroeconomic policy frameworks in addressing poverty and inequality, thus, the derailment of the post-apartheid development approach in South Africa. Based on the implementation research theory, and the literature review technique, this paper recognizes social work as a principal role-player in social development. It recommends the redesign and implementation of an effective developmental social welfare approach with specific strategies, programs, activities and sufficient resources aligned to and appropriate in delivering on the promises of the government’s macroeconomic policy frameworks. Such approach should be implemented by skilled and dedicated developmental social workers in order to achieve transformation in South Africa.

Keywords: apartheid, developmental social welfare, developmental social work, inequality, poverty alleviation, social development, South Africa

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Authors: Alla Tvardovskaya

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

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

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Authors: Simplejit Kaur Dhanoa, Manmohan Singh

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This study was done with the primary objective to evaluate the motor and mental developmental delays among children having neonatal Jaundice. A total sample of 300 neonates were collected; out of them, 150 were preterm neonates, and 150 were full term neonates from the hospital setting and follow up study was done with the help of the Developmental Assessment scale of the Indian Infant. The registered samples were assessed up to 2.6 years with a gap of 6 months. The outcomes of this study reveal that developmental delays were present among children who had preterm neonatal jaundice as compare to full term normal babies. Further, It was reported that both motor and mental development is affected due to neonatal hyperbilirubinemia in addition to preterm birth.

Keywords: hyperbinirubinemia, preterm neonates, developmental delays, preterm

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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: Brahim Sabir

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Psycho-Communication disorders negatively affect the academic curriculum for students in higher education. Thus, understanding these disorders, their causes and effects will give education specialists a tool for the decision, which will lead to the resolution of problems related to the integration of students with Psycho-Communication disorders. It is in this context that a statistical study was conducted, targeting the population object of study, namely Moroccan students. Pathological voice samples were recorded and analyzed acoustically with PRAAT software, in order to build a model that will be the basis for the objective diagnostic.

Keywords: psycho-communication disorders, acoustic analysis, PRAAT

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Authors: Christina Surmei

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Autism Spectrum Disorder (ASD) is defined as a diverse range of developmental conditions that affect an individual’s functionality. ASD is not linear, and individuals can present with deficits in social interaction, communication, and demonstrate limited, repetitive patterns of behaviour, interests, or activities. These characteristics may be observed in a variety of ways and range from mild to severe. ASD may include autism disorder, pervasive developmental disorder not otherwise specified, Asperger’s, or other related pervasive developmental disorders. Modern slavery is defined as 'situations of exploitation that a person cannot refuse or leave because of threats, violence, coercion, and abuse of power or deception'. A review of the literature investigated the prevalence of research regarding ASD and modern slavery. Two universal search engines and five online journals were used as the apparatuses of inquiry. The results revealed two editorials, one study, and one act, totaling four publications attesting to ASD and modern slavery as a joint entity. This is representative of a vast absence of research. However, as individual entities research on autism and modern slavery is in a general high occurrence. This paper has identified a significant gap in research on ASD and modern slavery, and initiates the dialogue to unpack a significant global issue in society today.

Keywords: autism spectrum, education, modern slavery, support

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Authors: Ali Al Orf, Khawaja Bilal Waheed

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Background and objective: Joubert syndrome (JS) is a rare, autosomal-recessive condition. Early recognition is important for management and counseling. Magnetic resonance imaging (MRI) can help in diagnosis. Therefore, we sought to evaluate clinical presentation and MRI findings in Joubert syndrome and related disorders. Method: A retrospective review of genetically proven cases of Joubert syndromes and related disorders was reviewed for their clinical presentation, demographic information, and magnetic resonance imaging findings in a period of the last 10 years. Two radiologists documented magnetic resonance imaging (MRI) findings. The presence of hypoplasia of the cerebellar vermis with hypoplasia of the superior cerebellar peduncle resembling the “Molar Tooth Sign” in the mid-brain was documented. Genetic testing results were collected to label genes linked to the diagnoses. Results: Out of 12 genetically proven JS cases, most were females (9/12), and nearly all presented with hypotonia, ataxia, developmental delay, intellectual impairment, and speech disorders. 5/12 children presented at age of 1 or below. The molar tooth sign was seen in 10/12 cases. Two cases were associated with other brain findings. Most of the cases were found associated with consanguineous marriage Conclusion and discussion: The molar tooth sign is a frequent and reliable sign of JS and related disorders. Genes related to defective cilia result in malfunctioning in the retina, renal tubule, and neural cell migration, thus producing heterogeneous syndrome complexes known as “ciliopathies.” Other ciliopathies like Senior-Loken syndrome, Bardet Biedl syndrome, and isolated nephronophthisis must be considered as the differential diagnosis of JS. The main imaging findings are the partial or complete absence of the cerebellar vermis, hypoplastic cerebellar peduncles (giving MTS), and (bat-wing appearance) fourth ventricular deformity. LimitationsSingle-center, small sample size, and retrospective nature of the study were a few of the study limitations.

Keywords: Joubart syndrome, magnetic resonance imaging, molar tooth sign, hypotonia

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Authors: Gabriella Tjondro, Julita Dortua Laurentina Nainggolan

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Introduction: There are several things affecting menstrual cycle, namely, nutritional status, diet, financial status of one’s household and exercises. The most commonly used parameter to calculate the fat in a human body is body mass index. Therefore, it is necessary to do research to prevent complications caused by menstrual disorder in the future. Design Study: This research is an observational analytical study with the cross-sectional-case control approach. Participants (n = 124; median age = 19.5 years ± SD 3.5) were classified into 2 groups: normal, NM (n = 62; BMI = 18-23 kg/m²) and obese, OB (n = 62; BMI = > 25 kg/m²). BMI was calculated from the equation; BMI = weight, kg/height, m². Results: There were 79.10% from obese group who experienced menstrual cycle disorders (n=53, 79.10%; p value 0.00; OR 5.25) and 20.90% from normal BMI group with menstrual cycle disorders. There were several factors in this research that also influence the menstrual cycle disorders such as stress (44.78%; p value 0.00; OR 1.85), sleep disorders (25.37%; p value 0.00; OR 1.01), physical activities (25.37%; p value 0.00; OR 1.24) and diet (10.45%; p value 0.00; OR 1.07). Conclusion: There is a significant relation between body mass index (obese) and menstrual cycle disorders. However, BMI is not the only factor that affects the menstrual cycle disorders. There are several factors that also can affect menstrual cycle disorders, in this study we use stress, sleep disorders, physical activities and diet, in which none of them are dominant.

Keywords: menstrual disorders, menstrual cycle, obesity, body mass index, stress, sleep disorders, physical activities, diet

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Authors: Barbara Gawda

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The study attempts to show the relationship between the structure of love by Sternberg and personality disorder traits. People with personality disorders experience dysfunctional emotionality. They manifest difficulties in experiencing love and closeness. Their relationships are marked by ambivalence and conflicts, e.g., as in borderline and narcissistic personality disorders. Considering love as a crucial human feeling, the study was planned to describe the associations between intimacy, passion, commitment, and personality disorder traits in a community sample. A sample of 194 participants was investigated (men and women in similar age and education levels). The following techniques were used: the SCID-II to assess personality disorders’ traits and the Triangular Love Scale by Sternberg to assess the components of love. Results show there are significant negative correlations between intimacy, commitment and personality disorders traits. Many personality disorders are associated with decreasing of intimacy and commitment, whereas passion was not associated with personality disorders’ traits. Results confirm that emotional impairments in personality disorders elicit conflicts and problems in relationships based on love and closeness.

Keywords: intimacy, commitment, love, passion, personality disorders

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Authors: S. Bagur, S. Verger, B. Mut

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Early childhood intervention (ECI) is understood as the set of interventions aimed at the child population with developmental disorders or disabilities from 0 to 6 years of age, the family, and the environment. Under the principles of family-centred practices, the members of the family nucleus are direct agents of intervention. Thus, the multidisciplinary team of professionals should work to improve family empowerment and the level of parenting skills. The aim of the present study is to analyse descriptively and differentially the level of parenting skills and family empowerment of parents using ECI services during the foster care phase. There were 135 families participating in the study. Three questionnaires were completed. The results show that the employment situation, the age of the child receiving an intervention, and the number of children in the family nucleus or the professional carrying out the intervention are variables that have a differential impact on different items of empowerment and parenting skills. The results are discussed and future lines of research are proposed, with the understanding that the initial analysis of the variables of empowerment and parenting skills may be predictors for the improvement of child development and family well-being. In addition, it is proposed to identify and analyse professional training in order to be able to adapt early care practices without depending on the discipline of the professional of reference.

Keywords: developmental disabilities, early childhood intervention, family empowerment, parenting skills

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Authors: Maisa Haj-Tas, Jehad Alaraifi

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The significance of the study: This retrospective study examined the speech and language profiles of patients who received clinical services at the University of Jordan Hearing and Speech Clinic (UJ-HSC) from 2009 to 2014. The UJ-HSC clinic is located in the capital Amman and was established in the late 1990s. It is the first hearing and speech clinic in Jordan and one of first speech and hearing clinics in the Middle East. This clinic provides services to an annual average of 2000 patients who are diagnosed with different communication disorders. Examining the speech and language profiles of patients in this clinic could provide an insight about the most common disorders seen in patients who attend similar clinics in Jordan. It could also provide information about community awareness of the role of speech therapists in the management of speech and language disorders. Methodology: The researchers examined the clinical records of 1140 patients (797 males and 343 females) who received clinical services at the UJ-HSC between the years 2009 and 2014 for the purpose of data analysis for this study. The main variables examined in the study were disorder type and gender. Participants were divided into four age groups: children, adolescents, adults, and older adults. The examined disorders were classified as either speech disorders, language disorders, or dysphagia (i.e., swallowing problems). The disorders were further classified as childhood language impairments, articulation disorders, stuttering, cluttering, voice disorders, aphasia, and dysphagia. Results: The results indicated that the prevalence for language disorders was the highest (50.7%) followed by speech disorders (48.3%), and dysphagia (0.9%). The majority of patients who were seen at the JU-HSC were diagnosed with childhood language impairments (47.3%) followed consecutively by articulation disorders (21.1%), stuttering (16.3%), voice disorders (12.1%), aphasia (2.2%), dysphagia (0.9%), and cluttering (0.2%). As for gender, the majority of patients seen at the clinic were males in all disorders except for voice disorders and cluttering. Discussion: The results of the present study indicate that the majority of examined patients were diagnosed with childhood language impairments. Based on this result, the researchers suggest that there seems to be a high prevalence of childhood language impairments among children in Jordan compared to other types of speech and language disorders. The researchers also suggest that there is a need for further examination of the actual prevalence data on speech and language disorders in Jordan. The fact that many of the children seen at the UJ-HSC were brought to the clinic either as a result of parental concern or teacher referral indicates that there seems to an increased awareness among parents and teachers about the services speech pathologists can provide about assessment and treatment of childhood speech and language disorders. The small percentage of other disorders (i.e., stuttering, cluttering, dysphasia, aphasia, and voice disorders) seen at the UJ-HSC may indicate a little awareness by the local community about the role of speech pathologists in the assessment and treatment of these disorders.

Keywords: clinic, disorders, language, profile, speech

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Authors: Noelene Rose

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The DSM has been plagued with conceptual issues since its inception, not least discriminant validity and comorbidity issues. An attempt to remain a-theoretical in the divide between the psycho-dynamicists and the behaviourists contributed to much of this, in particular relating to the Personality Disorders. With the DSM-5, although the criterion have remained unchanged, major conceptual and structural directions have been flagged and proposed in section III. The biggest changes concern the Personality Disorders. While Narcissistic Personality Disorder (NPD) was initially tagged for removal, instead the addition of section III proposes a move away from a categorical approach to a more dimensional approach, with a measure of Global Function of Personality. This global measure is an assessment of impairment of self-other relations; a measure of trait narcissism. In the same way mainstream psychology has struggled in its diagnosis of narcissism, so too in its treatment. Kohut’s self psychology represents the most significant inroad in theory and treatment for the narcissistic disorders. Kohut had moved away from a categorical system, towards disorders of the self. According to this theory, disorders of the self are the result of childhood trauma (impaired attunement) resulting in a developmental arrest. Self-psychological, Psychodynamic treatment of narcissism, however, is expensive, in time and money and outside the awareness or access of most people. There is more than a suggestion that narcissism is on the increase, created in trauma and worsened by a fearful world climate. A dimensional model of narcissism, from mild to severe, requires cut off points for diagnosis. But where do we draw the line? Mainstream psychology is inclined to set it high when there is some degree of impairment in functioning in daily life. Transpersonal Psychology is inclined to set it low, with the concept that we all have some degree of narcissism and that it is the point and the path of our life journey to transcend our focus on our selves. Mainstream psychology stops its focus on trait narcissism with a healthy level of self esteem, but it is at this point that Transpersonal Psychology can complement the discussion. From a Transpersonal point of view, failure to begin the process of self-transcendence will also create emotional symptoms of meaning or purpose, often later in our lives, and is also conceived of as a developmental arrest. The maps for this transcendence are hidden in plain sight; in the chakras of kundalini yoga, in the sacraments of the Catholic Church, in the Kabbalah tree of life of Judaism, in Maslow’s hierarchy of needs, to name a few. This paper outlines some proposed research exploring the use of daily practices that can be incorporated into the therapy room; practices that utilise meditation, visualisation and imagination: that are informed by spiritual technology and guided by the psychodynamic theory of Self Psychology.

Keywords: narcissism, self-psychology, self-practice, self-transcendence

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Authors: Mosaad Hamouda, Kamal Khalaf, Zaker Mousa

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National projects are considered Egypt's future vision in investing its various resources and the best way to bring about a developmental renaissance that constitutes a quantum leap because of its developmental impact on the planning regions, which it achieves in attracting and localizing investments to achieve urban development, and what this has a noticeable impact on dividing those regions in order to achieve a developmental balance or at least reduce the severity of the disparities between them, by measuring the impact of these projects, which appear in the per capita share of the various developmental variables, and also analyzing global and local experiences so that a balanced division of the country’s regions can be reached, and the research finds a set of planning foundations that are compatible with the settlement of these national projects in the future.

Keywords: national projects, regional development, division of regions, development disparities

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Authors: Tareg Belali, Mosleh Abomughaid, Muhanad Alhujaily

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HNF4a is one of the steroid hormone receptor family of transcription factors with roles in the development of the liver and the regulation of several critical metabolic pathways, such as glycolysis, drug metabolism, and apolipoproteins and blood coagulation. The transcriptional potency of HNF4a is well known due to its involvement in diabetes and other metabolic diseases. However, recently HNF4a has been discovered to be closely associated with several haematological disorders, mainly because of genetic mutations, drugs, and hepatic disorders. We review HNF4a structure and function and its role in haematological disorders. We discuss possible good therapies that are based on targeting HNF4a.

Keywords: hepatocyte nuclear factor 4 alpha, HNF4a nuclear receptor, steroid hormone receptor family of transcription factors, hematological disorders

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Authors: Pamela Ventola, Laurel Bales, Sara Florczyk

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Background: Fully remote or hybrid administration of clinical outcome measures in rare neurodevelopmental disorders trials is increasing due to the ongoing pandemic and recognition that remote assessments reduce the burden on families. Many assessments in rare neurodevelopmental disorders trials are complex; however, remote/hybrid trials readily allow for the use of centralized raters to administer and score the scales. The use of centralized raters has many benefits, including reducing site burden; however, a specific impact on data quality has not yet been determined. Purpose: The current study has two aims: a) evaluate differences in data quality between administration of a standardized clinical interview completed by centralized raters compared to those completed by site raters and b) evaluate improvement in accuracy of scoring standardized developmental assessments when scored centrally compared to when scored by site raters. Methods: For aim 1, the Vineland-3, a widely used measure of adaptive functioning, was administered by site raters (n= 52) participating in one of four rare disease trials. The measure was also administered as part of two additional trials that utilized central raters (n=7). Each rater completed a comprehensive training program on the assessment. Following completion of the training, each clinician completed a Vineland-3 with a mock caregiver. Administrations were recorded and reviewed by a neuropsychologist for administration and scoring accuracy. Raters were able to certify for the trials after demonstrating an accurate administration of the scale. For site raters, 25% of each rater’s in-study administrations were reviewed by a neuropsychologist for accuracy of administration and scoring. For central raters, the first two administrations and every 10th administration were reviewed. Aim 2 evaluated the added benefit of centralized scoring on the accuracy of scoring of the Bayley-3, a comprehensive developmental assessment widely used in rare neurodevelopmental disorders trials. Bayley-3 administrations across four rare disease trials were centrally scored. For all administrations, the site rater who administered the Bayley-3 scored the scale, and a centralized rater reviewed the video recordings of the administrations and also scored the scales to confirm accuracy. Results: For aim 1, site raters completed 138 Vineland-3 administrations. Of the138 administrations, 53 administrations were reviewed by a neuropsychologist. Four of the administrations had errors that compromised the validity of the assessment. The central raters completed 180 Vineland-3 administrations, 38 administrations were reviewed, and none had significant errors. For aim 2, 68 administrations of the Bayley-3 were reviewed and scored by both a site rater and a centralized rater. Of these administrations, 25 had errors in scoring that were corrected by the central rater. Conclusion: In rare neurodevelopmental disorders trials, sample sizes are often small, so data quality is critical. The use of central raters inherently decreases site burden, but it also decreases rater variance, as illustrated by the small team of central raters (n=7) needed to conduct all of the assessments (n=180) in these trials compared to the number of site raters (n=53) required for even fewer assessments (n=138). In addition, the use of central raters dramatically improves the quality of scoring the assessments.

Keywords: neurodevelopmental disorders, clinical trials, rare disease, central raters, remote trials, decentralized trials

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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: Agodo Mugenyi Herbert

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Background: A high prevalence of both HIV infection and mental disorders exists in Sub-Saharan Africa, however there is little integration of care for mental health disorders among HIV-infected individuals. The study aimed at determining the management of common mental disorders among HIV/AIDS clients attending Antiretroviral clinic in Hoima regional referral hospital. Significancy of the study: The information generated by this study would help mental health advocates, ministry of health, Civil society organizations in HIV programming to advocate for enhanced mental health care for PLWHA. The result will be used in policy development and lobbying for integration of mental health care in HIV/AIDS care. Methods: This study applied a cross sectional design. It involved data collection from clients with HIV/AIDS attending ART clinic in Hoima regional referral hospital at one specific point in time. It aimed at providing data on the entire population under study. Data was collected from Hoima Regional Referral Hospital at the ART clinic. Data analysis was performed using SPSS version 24. Results: 66 HIV/AIDS clients and 10 health workers in the ART clinic who participated fully completed the study. The overall prevalence of at least one form of mental disorder was 83%. Majority of the health care practitioner do not use pharmacological, psychological, and social interventions to manage such disorders. Conclusion: These results are suggestive of a significant proportion of the HIV-infected patients experiencing psychological difficulty for which they do not receive treatment Recommendations: Current care practices applied to patients with HIV/AIDS should be integrated more generally to include treatment services to identify and manage common mental disorders.

Keywords: common mental disorders, mental health, mental illness, and severe mental illness

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Authors: Ipek Sensu

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Comorbid Axis I disorders are highly common for suicidal borderline personality disorder (BPD) patients, especially substance use disorder and anxiety disorders. Since interpersonal dysfunction is one of the core symptoms in BPD, the purpose of the current study is to examine perceived criticism and anxiety disorders and also substance abuse disorders (SUD) for women with borderline personality disorder (BPD) who attempt suicide at least once in their lifetime. In the current study, it was suggested that the perceived criticism from others and being upset by criticism differ between suicidal women with BPD with comorbidity of anxiety disorders and SUD (separately) and suicidal women with BPD without anxiety disorders and without SUD (separately). The participants in this study included ninety-nine women who have already been diagnosed with borderline personality disorder and also have had at least two episodes of deliberate self-harm, in other words, suicide attempts and/or non-suicidal self-injury (NSSI) in the last five years and at least one episode in the 8-week period before joining the research study and at least one suicide attempt in the previous year. Structured Clinical Interview for DSM-IV Axis I Disorders (SCID) and Social History Interview (SHI) were conducted to determine the comorbid axis I disorders and level of perceived criticism. As a result of the independent sample t-tests, the first hypothesis was rejected, in other words, women with BPD and a comorbid anxiety disorder did not show significantly higher levels of ‘criticized by others’, compared to women with BPD alone. However, the levels of ‘upset at criticism’ were significantly different between suicidal women with BPD with or without any anxiety disorders, which is the second hypothesis. In addition, the third hypothesis was also accepted; this means, women with BPD who had any substance use dependence would show significantly higher levels of 'criticized by others' compared to women with BPD alone. Finally, the fourth hypothesis was partly accepted: that is, women with BPD with alcohol dependence had significantly higher levels of ‘how upset when they expose to criticism’, compared to those without alcohol dependence. Limitations, implications, and directions for future research are discussed.

Keywords: anxiety disorders, borderline personality disorders, perceived criticism, substance use disorders

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Authors: Zakieh Piri, Shahla Damanabi, Peyman Rezaii Hachesoo

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Introduction: Healthcare organizations like other organizations suffer from a number of disorders such as Business Sponsor Disorder, Business Acceptance Disorder, Cultural/Political Disorder, Data Disorder, etc. As quality in healthcare care mostly depends on the quality of data, we aimed to identify data disorders and its symptoms in two teaching hospitals. Methods: Using a self-constructed questionnaire, we asked 20 questions in related to quality and usability of patient data stored in patient records. Research population consisted of 150 managers, physicians, nurses, medical record staff who were working at the time of study. We also asked their views about the symptoms and treatments for any data disorders they mentioned in the questionnaire. Using qualitative methods we analyzed the answers. Results: After classifying the answers, we found six main data disorders: incomplete data, missed data, late data, blurred data, manipulated data, illegible data. The majority of participants believed in their important roles in treatment of data disorders while others believed in health system problems. Discussion: As clinicians have important roles in producing of data, they can easily identify symptoms and disorders of patient data. Health information managers can also play important roles in early detection of data disorders by proactively monitoring and periodic check-ups of data.

Keywords: data disorders, quality, healthcare, treatment

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Authors: Alberto Hananel

Abstract:

The aim of this work is to modelize the occlusion of a person with temporomandibular disorders as an evolutionary equation and approach its solution by the construction and characterizing of discrete variational splines. To formulate the problem, certain boundary conditions have been considered. After showing the existence and the uniqueness of the solution of such a problem, a convergence result of a discrete variational evolutionary spline is shown. A stress analysis of the occlusion of a human jaw with temporomandibular disorders by finite elements is carried out in FreeFem++ in order to prove the validity of the presented method.

Keywords: approximation, evolutionary PDE, Finite Element Method, temporomandibular disorders, variational spline

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