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Zamora López, Pilar. "Asperger's syndrome. Characteristics and educational factors." Revista Internacional de apoyo a la inclusión, logopedia, sociedad y multiculturalidad 6, no. 2 (2020): 19–25. http://dx.doi.org/10.17561/riai.v6.n11.
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Asperger's syndrome is diagnosed according to several behavioral patterns grouped together as diagnostic criteria. Behind the peculiar nature of each individual are underlying fixed cognitive aspects. This reflection examines the different cognitive mechanisms that are part of the teaching and learning process, which may constitute the essential aspects of this disorder. It discusses how mind theory, empathy, cognitive functioning, and executive functions affect the teaching and learning process. It also discusses the role that the integration of these students within the classroom plays, as well as the role played by the teacher within it. Our goal will be to inform the different groups about this syndrome, in addition to raising awareness that it is not a disease but a condition of life, in order to enable these people to adapt and develop in today's world.
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Szatmari, Peter, Rebecca Bremner, and Joan Nagy. "Asperger's Syndrome: A Review of Clinical Features." Canadian Journal of Psychiatry 34, no. 6 (1989): 554–60. http://dx.doi.org/10.1177/070674378903400613.
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The term Asperger's Syndrome (AS) refers to a clinical picture characterized by social isolation in combination with odd and eccentric behaviour. While the syndrome has been recognized for some time, diagnostic criteria for the disorder have not yet been established or evaluated. The objective of this paper is to describe some of the clinical features of AS. Twenty-eight children and adolescents with AS were compared to a group of psychiatric outpatients (matched on age and sex) who were also socially impaired. The AS subjects showed a range of social impairments essentially different than those seen in the control group. The sex ratio, family history, and presence of neurologic disease in some AS cases, suggest that the etiology of the disorder is similar to that in autism. The methodological limitations of the study are discussed, and a revised set of diagnostic criteria are proposed for AS.
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STIP, E. "Fahr's disease and Asperger's syndrome in a patient with primary hypoparathyroidism." Journal of Neurology, Neurosurgery & Psychiatry 68, no. 1 (2000): 115–16. http://dx.doi.org/10.1136/jnnp.68.1.115.
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Robert DeLong, G., and Judith T. Dwyer. "Correlation of family history with specific autistic subgroups: Asperger's syndrome and bipolar affective disease." Journal of Autism and Developmental Disorders 18, no. 4 (1988): 593–600. http://dx.doi.org/10.1007/bf02211877.
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Charlier, P., M. Cymès, and S. Deo. "It's time to rename some diseases: Wing syndrome rather than Asperger's, and no more leprosy but Hansen disease." Ethics, Medicine and Public Health 13 (April 2020): 100488. http://dx.doi.org/10.1016/j.jemep.2020.100488.
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Zenko, Catherine B. "Successfully Serving Students With ASD in the Schools: Let the Evidence Be Your Guide." Perspectives on School-Based Issues 12, no. 3 (2011): 84–90. http://dx.doi.org/10.1044/sbi12.3.84.
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The caseload of a speech-language pathologist in the school setting consists of students with an array of abilities. The number of students with a diagnosis of autism spectrum disorder (ASD) is on the rise according to the most recent statistics: 1/110 children have an ASD (Centers for Disease Control, 2009). The diagnoses that fall under the ASD umbrella include autism, Asperger's syndrome, and pervasive developmental disorder not otherwise specified (PDD-NOS). Given these statistics, school clinicians will see an increase of students with ASD on their caseloads. Ways to effectively address the needs of children who fall under the ASD diagnostic umbrella will be discussed.
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Yortston, Graeme, Noor Ul Ain Awan, Mahmoud Aref, and Srinivasa Thirumalai. "Late-Onset Tay-Sachs Disease With a Predominantly Neuropsychiatric Presentation: Case Report and Literature Review." BJPsych Open 10, S1 (2024): S293. http://dx.doi.org/10.1192/bjo.2024.696.
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AimsBackground: Late-onset Tay-Sachs disease (LOTS) is an autosomal recessive lysosomal storage disease due to a variety of mutations in the hexosaminidase-A gene which leads to accumulation of GM2 ganglioside in the brain. It typically presents in late adolescence with a slowly progressive spectrum of neurologic symptoms including lower-extremity weakness with muscle atrophy, dysarthria, incoordination, tremor and mild spasticity and/or dystonia. Psychiatric symptoms including mood disorder, psychosis and neurocognitive symptoms occur in around 50% of cases but are rarely the presenting feature.MethodsCase Report: Patient X is a 35 year old man of Irish descent currently detained in an independent hospital locked rehabilitation unit following the breakdown of a care home placement. He first presented to mental health services at the age of 17 with psychomotor agitation, rapidly changeable moods, manic-like symptoms and sexual disinhibition. He was diagnosed with schizoaffective disorder, attention deficit hyperactivity disorder and Asperger's syndrome and he had several compulsory hospital admissions over the next five years before a prolonged period of rehabilitation and discharge to a residential home for people with autistic spectrum disorders. However, he continued to exhibit disruptive behaviour, often triggered by periods of insomnia and had further hospital admissions. When he was 31 his brother was diagnosed with LOTS and this led to him being tested and found to have the same mutation.ResultsDiscussion: There had been no suspicion of a neuropsychiatric disorder prior to the diagnosis of the patient's brother with LOTS and he was treated with conventional psychotropic medication with limited success. However, when the case records were obtained from his first hospital admission there was evidence of dysarthria although the significance of this was not appreciated. With hindsight many of his other symptoms can be seen as indicative of a neuropsychiatric disorder.ConclusionIt is important to take a family history and consider a neuropsychiatric condition in families with multiple affected individuals. There are as yet no specific treatments for LOTS, and management is aimed at symptom reduction and enhancing quality of life, but a number of disease modifying strategies are being investigated including enzyme replacement therapy, pharmaceutical chaperone therapy, substrate reduction therapy, gene therapy, and hematopoietic stem cell replacement therapy, making it even more important the condition is recognized early.
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Mejia, Nicte I., and Joseph Jankovic. "Secondary tics and tourettism." Revista Brasileira de Psiquiatria 27, no. 1 (2005): 11–17. http://dx.doi.org/10.1590/s1516-44462005000100006.
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Motor and phonic tics are most frequently due to Tourette syndrome, but there are many other causes of tics. We analyzed data on 155 patients with tics and co-existent disorders (101M/54F; mean age 40.5 ± 20.2 years). Fourteen (9.0%) patients had tics associated with an insult to the basal ganglia, such as head trauma (N = 4, 2.5%), stroke (N = 2, 1.2%), encephalitis (N = 3, 1.9%) and other causes. In addition, certain drugs, toxins, and post-infectious causes were associated with tics. Rarely, peripheral injury can cause movement disorders, including tics (N = 1, 0.6%). Pervasive developmental disorders, including Asperger's syndrome (N = 13, 8.3%), mental retardation (N = 4, 2.5%), autism (N = 3, 1.9%), and Savant's syndrome (N = 1, 0.6%), also may be associated with tics, as noted in 21 of the 155 patients (13.5%). Genetic and chromosomal disorders, such as Down's syndrome 5 (3.2%), neuroacanthocytosis (N = 2, 1.2%), and Huntington's disease (N = 1, 0.6%), were associated with tics in 16 patients (10.3%). We have also examined the co-existence of tics and other movement disorders such as dystonia (N = 31, 20.0%) and essential tremor (N = 17, 10.9%). Sixteen (10.3%) patients presented psychogenic tics, and one (0.6%) psychogenic tics and dystonia; conversely, Tourette syndrome preceded the onset of psychogenic dystonia (N = 1, 0.6%), and psychogenic tremor (N = 1, 0.6%) in two patients. Finally, 12 (7.7%) patients had tics in association with non-movement related neurological disorders, such as static encephalopathy (N = 2, 1.2%) and seizures (N = 3, 1.9%). To understand the physiopathology of tics and Tourette syndrome, it is important to recognize that these may be caused or associated with other disorders.
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Sinulingga, Checi Lia sari, Fuzy Yustika, and Tio Ria Pasaribu. "Determination of the Type of Child Development Disorders with the Dempster Shafer Method." International Journal of Informatics, Economics, Management and Science 3, no. 1 (2024): 69. http://dx.doi.org/10.52362/ijiems.v3i1.1227.
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Children are the most beautiful gift for parents. These awards sometimes have deficiencies or many of them experience disturbances during their development. There are various kinds of developmental disorders that children suffer from, including: autism, ADHD, ADD, speech delay, Asperger's syndrome, and Taurette's syndrome. In Indonesia, 5% of the school-age population to some degree suffers from developmental disorders, one of which is Hyperactivity Disorder. Hyperactivity Disorder is experienced more by boys than girls, with an estimate of 2-4% for girls, and 6-9% for boys aged 6-12 years. One of the real challenges nowadays is the high cost to do a health check. So that many children are not brought by their parents to undergo examinations because of limited funds. In addition to funding, the lack of experts or specialists in the field of child health is also a factor for parents' reluctance to have their children examined. Situations that often occur in areas, especially those far from the city center. In this study, the Dempster Shafer method will provide an initial diagnosis and classification of the types of child development disorders into several classifications such as in the case of Hyperactivity Disorder, with the categories of Hyperactivity, Impulsivity and Inattention. Based on the results of manual calculations using the Dempster Shafer, a presentation value of 0.6 is obtained leading to inclusive disease. It is also a factor that parents are reluctant to have their children examined. Situations that often occur in areas, especially those far from the city center. In this study, the Dempster Shafer method will provide an initial diagnosis and classification of the types of child development disorders into several classifications such as in the case of Hyperactivity Disorder, with the categories of Hyperactivity, Impulsivity and Inattention. Based on the results of manual calculations using the Dempster Shafer, a presentation value of 0.6 is obtained leading to inclusive disease. It is also a factor that parents are reluctant to have their children examined. Situations that often occur in areas, especially those far from the city center. In this study, the Dempster Shafer method will provide an initial diagnosis and classification of the types of child development disorders into several classifications such as in the case of Hyperactivity Disorder, with the categories of Hyperactivity, Impulsivity and Inattention. Based on the results of manual calculations using the Dempster Shafer, a presentation value of 0.6 is obtained leading to inclusive disease. and Intention. Based on the results of manual calculations using the Dempster Shafer, a presentation value of 0.6 is obtained leading to inclusive disease. and Intention. Based on the results of manual calculations using the Dempster Shafer, a presentation value of 0.6 is obtained leading to inclusive disease.
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Swathi Krishna KV, Vasunoori Anitha, Vasunoori Hemalatha, Vinukonda Aravindh, Yalakapalli Poojasree, and Yarraballi Suneel kumar. "A review on Angelman syndrome." World Journal of Advanced Research and Reviews 17, no. 3 (2023): 070–86. http://dx.doi.org/10.30574/wjarr.2023.17.3.0282.
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"Angelman syndrome" AS seems to be a neurodevelopmental illness for whom significant aspects were learning impairment, total absence like presentation, convulsions, and a character trait behavior resume. Its behavior includes the delighted public persona, easily angered amusement, hard time concentrating, and hyper motoric actions, swearing like things, disruptive behavior, and an attachment such as liquid. Developmental problems and delicate dysphoric includes, along with incoordination and other mobility disruptions, have been extra functionality in essential people with the condition. And so is resulting from short invocation of something like the tubulin nutrient ubiquitin E3A (ube3a) mutation, which shows parental bonding. There are four single-molecule classrooms upon as, and somegenotype–phenotype collinearity has popped up. More than stays to be acknowledged about why issues like E6-AP and its nutrient merchandise like UBE3A end up in its noticed neurobehavioral deficit spending. Research like animal studies has allegedly involved UBE3A along with experience-dependent synapses redeveloping. Its pharmacogenetic facets include Angelman disorder, its basic biomolecular tenets, and access to basic service methods. And so is one neurobehavioral disorder that is characterized while also a severely impaired handicap, engine failure to thrive, communication difficulties, impulsiveness, but also ordinary epileptic fits. And so is attributable to interruption of prenatally conveyed but also generationally ingrained UBE3A, which also lossless encoding the ubiquitin secondments. Four methods in the production of its gene encoding UBE3A non - functional were also acknowledged, the most typical of which would be the deactivation of such motherly love human chromosome 15q11-q13. Amazingly, redundancy with the same human chromosome is amongst the few best-described continual chromosomal mutations linked to asperger's syndrome disease, cropping up along >1–2 Percentage among all situations like autism diagnosis. While outcome morphological characteristics of something like the central nervous system and communication like neurons projected numbers are mainly standard in animal studies, primary operating deficiencies were also discovered just at a standard like discussion training. Also, they impeded developmental processes like learning, memory, and neurogenesis circuit design. Offers similar promote confidence a significant involvement such as proteolysis protein ligase E3A along synapses advancement, its operations to dysfunction like tubulin transcription factor E3A results samples pathogenic mechanisms along living beings poor job performance did understand. but even so, current attempts have also shown keep promising through trying to restore continues to function interrupted into it as mouse model, reactivating keep hoping how the effectiveness of treatment's management strategic plan could be discovered.
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Fragaki, Maria, Konstantinos Karmiris та Gregorios A. Paspatis. "Crohnʼs Disease and Asperger Syndrome". Inflammatory Bowel Diseases 22, № 6 (2016): E19. http://dx.doi.org/10.1097/mib.0000000000000794.
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Palčevski, G., I. Močenić, Z. Korotaj, and M. Peršić. "A boy with Asperger’s disorder, Crohn’s disease and epilepsy." Paediatria Croatica 54, no. 4 (2010): 215–17. http://dx.doi.org/10.13112/pc.822.
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Asperger’s disorder (AD) is a pervasive developmental disorder that is part of autism spectrum disorders. It is characterized by daydreaming, hallucinations and disregard of external reality. The feeding habits of these patients are often peculiar and inadequate, and therefore frequently ascribed to the clinical features of pervasive developmental spectrum. Besides neurological disorders, these children often complain of gastrointestinal (GI) discomfort such as constipation, diarrhoea, abdominal pain and abdominal distension. Most of these signs are also present in chronic inflammatory bowel disease. Apart from neurological disorders, pathohistological changes in the GI tract of autistic children have also been described. On the basis of these findings the term “autistic enterocolitis” has been suggested as an independent diagnosis. However, recent studies question the reliability of this tenet. Here we describe a patient with AD, Crohn’s disease and epilepsy. This finding stresses the need for the completion of basic algorithm examinations in autistic children.
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Tomiyasu, Kazuhiro, Takeo Oshima, Masami Yoshii, Hiromi Suzuki, Joji Inamasu, and Manabu Izumi. "Wilson’s disease presenting as Asperger syndrome." Rinsho Shinkeigaku 59, no. 9 (2019): 589–91. http://dx.doi.org/10.5692/clinicalneurol.cn-001245.
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Dr., Lawrence Broxmeyer MD. "The Science Behind Autism and the 'Developmental Disorders': Tortuous or Tortured?" Global Journal of Intellectual & Developmental Disabilities 2, no. 4 (2017): 22. https://doi.org/10.5281/zenodo.887363.
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The history of coming to grips with what autism is and its etiology has been tortuous ― if not tortured. By 1908 the word autism was defined as a schizophrenic who was withdrawn or self-absorbed. Some decades later Leo Kanner [1] decided that autism was based on children with “a powerful desire for aloneness.” In the 1960’s psychologist Bruno Bettelheim, picking up on another aspect of Kanner’s [2] observations, thought autism was simply based upon mothers not loving their children enough. Then came the twin research studies which purported autism to be caused by genetics or biological differences in brain development. Yet the consensus that Autism is from an intrauterine infection had also been growing, bolstered more recently by Patterson’s [3] and Fatemi’s [4] studies. However, the question would still remain: which infection? This, of course, remains unknown. Until 1980 autism in the US is still called “childhood schizophrenia” and in some parts of the world, it still is. By the same token, there has been, for some time, an extensive body of medical literature which ties schizophrenia to chronic infection –some time before when Rzhetsky [5] in 2007, used a proof-of-concept bio-statistical analysis of 1.5 million patient records, finding significant genetic overlap in humans with autism, schizophrenia and tuberculosis. This lends an explanation as to why anti-tubercular drugs such as Seromycin have been so successful in NIH trials treating autism. Tracing the history of autism from John Langdon Down’s children, a subset of which were autistic, to the present, this paper also explains how the stealth pathogen hypothesized to be behind autism has evaded modern day diagnostics.
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Schwarzová, Lucie. "POSSIBILITIES OF SUPPORT OF SPECIAL NEEDS STUDENTS AT THE GRADUATION EXAM - CASE STUDY OF A STUDENT WITH ASPERGER SYNDROME FOCUSING ON THE MODIFICATION OF GRADUATION EXAM CONDITIONS." SOCIETY. INTEGRATION. EDUCATION. Proceedings of the International Scientific Conference 3 (May 25, 2018): 147. http://dx.doi.org/10.17770/sie2018vol1.3389.
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The aim of the paper is the theoretical anchoring of the autism spectrum disorder focusing mainly on the Asperger syndrome, as well as the classification of disorders according to the International Statistical Classification of Diseases (ICD-10) and the Diagnostic and Statistical Manual (DSM-V). The paper contains an overview of the legal regulations related to the possible modifications of the common part of the graduation exam. The research part is based on qualitative methodology, it includes a case study. Based on an intentional selection (age and diagnosis), a student with Asperger syndrome was chosen for the case study, who applied at the educational support center for the modification of the graduation exam conditions. Regarding the data collection, the research methods included a semi-structured interview with the legal representatives (with the consent of the student of age), and a class teacher, and the study of the documents kept in the educational support center. The research part contains information on the personal and schooling history, as well as on the symptoms reflecting the diagnostic dyad. The conclusion offers an overview of the specific support measures provided to the student for the common part of the national graduation exam. The aim of the study is to explore whether the symptoms of the Asperger syndrome diagnosis reflected in the deficiencies at school may be fully compensated through the modification of the graduation exam conditions.
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Andrijaseviæ, Janko. "Literature and Medicine: Asperger Syndrome in Mark Haddon’s Novel “The Curious Incident of the Dog in the Night-Time”." Armenian Folia Anglistika 5, no. 1-2 (6) (2009): 226–32. http://dx.doi.org/10.46991/afa/2009.5.1-2.226.
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The main protagonist in the novel “The Curious Incident of the Dog in the Night-Time” by the contemporary British writer Mark Haddon, the 15-year-old Christopher, suffers from a mental disorder (Asperger’s Syndrome) and is not aware of the fact. Haddon depicts the world perception of a person with a mental disorder so masterfully and so professionally that the reader involuntarily looks for similarities between himself and the boy. Though the novel does not mention the name of the disease and lacks medical considerations, it is expressed in the novel more effectively and markedly than in any medical report.The article examines the relationship between medicine and literature which represent the two sides of man’s unity and hence must make use of each other’s achievements to shed light on the mystery of the human existence.
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Abou El-Seoud, Samir, and Samaa A. Ahmed. "Emotional Cognitive Assessment and Enhancement for Mentally Disabled People." International Journal of Online and Biomedical Engineering (iJOE) 15, no. 04 (2019): 88. http://dx.doi.org/10.3991/ijoe.v15i04.9844.
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<p class="0BodyText">Autism spectrum syndrome well known as autism. Autism was delivered within the 1920s century especially in 1944. Autism is described as a development disease that influences the social abilities, nonverbal communication or what's called body language. Human beings with Autism and Asperger’s syndrome tends to have high IQ however very low EQ[1]. In addition, person who suffers autism has a tendency to have a specific habitual, aggressive reaction while converting this habitual. The Proposed concept is to develop an algorithm/method for growing emotional intelligence. The goal of the proposed concept is to assist human beings with Autism and Asperger’s syndrome that tends to have under common EI to approach normality [2]. The program will use the high IQ of the person to increase his/her EQ. To achieve this it is intended to develop program that refuse any miss behavior, or inappropriate mind-set. The advanced application acts like human, who will no longer accept to be treated in a particular manner. To enhance ones EI, people with autism ought to be taught on:</p><p class="0BodyText"> • A way to cope with people in a manner they would accept. </p><p class="0BodyText"> • The way to apprehend his/her emotion and accept it.</p><p class="0BodyText"> • The way to express their feelings. </p><p class="0BodyText"><br /> The goal of the evolved program is to help autism users be given human beings and be selves ordinary. The program ought to teach person how to make buddies in the real existence.</p>
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Shih, Yu-Chun, and Shu-Chuan Chen. "Can the Discreditable be an Advantage? Mental Illnesses as Metaphors on Rhetorical Usages for Language Teaching." PAROLE: Journal of Linguistics and Education 9, no. 1 (2019): 31. http://dx.doi.org/10.14710/parole.v9i1.31-43.
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Mental illnesses often inspire artists and writers and are omnipresent in various works, yet the moral adequacy of portraying their images remained controversial: Erving Goffman (2010) had described the challenges the “discreditables” might have faced and the privileges they might get once being uncovered in his essay. However, Susan Sontag believed that wrapping disease in metaphors discouraged, silenced, and shamed patients in her Illness as Metaphor. This paper aims to center the discussion on what the diseases and the patients will represent and the privileges be demonstrated in these texts from a rhetorical aspect? By applying principally the theories of uncanny, abjection, and stigma, this paper has built a theory on presuming Meursault in Camus’s The Stranger has Asperger, then analyze the power of stigma in two recent works: the episode “ADHD Is Necessary” in Taiwanese TV drama: On Children, and a French novel: Nothing Holds Back the Night. The results showed that the mental illness can be an advantageous and necessary metaphor, just as an endowing “Mark of Cain”, threatening yet defensive. Meanwhile
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Belokoskova, Svetlana G., Emma M. Malsagova, Irina S. Ivleva, Marina N. Karpenko, and Sergey G. Tsikunov. "BDNF content and catalase activity in the blood of children with autism spectrum disorders." Medical academic journal 23, no. 2 (2023): 119–28. http://dx.doi.org/10.17816/maj112295.
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BACKGROUND: With the increasing prevalence of autism spectrum disorders worldwide, it is relevant to study the mechanisms contributing to their development and progression. The participation of brain-derived neurotrophic factor and oxidative stress in the pathogenesis of the disease is considered, however, their role in this process remains unclear. The relationship between BDNF levels and oxidative stress in the blood of patients with autism spectrum disorders has not been studied.
 AIM: The aim was to evaluate the content of brain neurotrophic factor, BDNF, and catalase, an antioxidant defense enzyme, in children with various clinical forms of autism spectrum disorders.
 MATERIALS AND METHODS: BDNF content and catalase activity were assessed in the blood plasma of 78 children with autism spectrum disorders, including 41 patients with childhood autism, 19 children with atypical autism, 6 patients with Aspergers syndrome, and 12 patients with other general developmental disorders (with elements of autism). The control group consisted of 20 conditionally healthy children. The diagnosis was established in accordance with the ICD-10. The severity of disorders was determined using the Childhood Autism Rating Scale. The content of BDNF was evaluated using the method of enzyme immunoassay, catalase activity was determined by colorimetric method.
 RESULTS: The content of BDNF in blood plasma was reduced in children with autism spectrum disorders compared to its levels in control group subjects. BDNF levels depended on the clinical form of the disease: the content of BDNF was reduced in patients with childhood autism, atypical autism, Aspergers syndrome compared to control group subjects; in patients with atypical autism it is lower than in patients with childhood autism; BDNF levels in the group of patients with other general developmental disorders and in control group did not differ. The content of BDNF did not depend on gender, age and severity of autism spectrum disorders. A negative correlation was found between BDNF levels and the age of control group children. There were no differences in the activity of catalase in the blood of children with autism spectrum disorders and in control group. A positive correlation was found between BDNF levels and catalase activity in children with autism spectrum disorders and control group subjects.
 CONCLUSIONS: A decrease in the content of BDNF in the blood of children with autism spectrum disorders was revealed. Neurotrophin content differed in children with separate clinical forms of the disease. To varying degrees the decrease in BDNF levels in patients with childhood autism, atypical autism, Aspergers syndrome and the absence of changes in patients with other general developmental disorders compared with controls could be associated with a different contribution of neurotrophin to the pathogenesis of clinical forms of autism spectrum disorders. In children with autism spectrum disorders, there were no age-related changes in neurotrophin levels, while in healthy children a negative correlation was found between the content of BDNF and age. The absence of changes in the activity of catalase in the blood of children with autism spectrum disorders indicated the safety of the antioxidant defense system in terms of this indicator. The positive correlation between BDNF levels and catalase activity in the blood of patients with autism spectrum disorders and control group subjects reflected the protective role of neurotrophin from the damaging effects of oxidative stress.
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Wilk, Iwona. "Application of massage in skin hypersensitivity." Medical Science Pulse 7, no. 4 (2013): 43–46. http://dx.doi.org/10.5604/01.3001.0003.3151.
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Introduction: The dysfunction of the reception, analysis and responding to sensory impulses may refer to many areas such as superficial and deep cutaneous feeling, temperature and motor orientation in space. Over and under sensitivity can be found in healthy and sick children, for example, with Asperger’s syndrome. The symptom may also affect the adults with diabetes in whom oversensitivity to touch appears as a complication. Excessive reaction of the human body to touch is the reason of abnormal motor development in children. In adult persons this might disturb regular, every day activities. In other cases it can make physiotherapy impossible. Material and methods: The classical massage was performed to a patient with many disease symptoms and varied complications to reduce hypersensitivity to touch and decrease pain. We used superficial stroking but the most important was the intensiveness and the direction of the strokes. The purpose of the massage was to reduce the hyperesthesia of the skin and decrease pain in the area of the patient’s feet, ankles and calves.Results: After the massage the reduction of hyperesthesia and decrease in pain were achieved which made the continuation of another form of physiotherapy possible.Conclusions: We can use the massage, because it is an effective therapy in the dysfunction of the superficial receptors on the skin. After the massage we decrease the pain in the diseased area, where the disorder of feeling appears. The massage can serve as an introductory part to another kind of physiotherapy, individual for every patient.
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Gómez-Marí, Irene, Pilar Sanz-Cervera, and Raúl Tárraga-Mínguez. "Today Is My Day: Analysis of the Awareness Campaigns’ Impact on Functional Diversity in the Press, on Google, and on Twitter." International Journal of Environmental Research and Public Health 18, no. 15 (2021): 7789. http://dx.doi.org/10.3390/ijerph18157789.
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(1) Every day, people with functional diversity face different kinds of difficulties that pose a barrier to their social inclusion. These difficulties often go unnoticed by most citizens. Social networks are a powerful tool to sensitize the population. With this objective, different organizations such as associations, federations, foundations, and other institutions have promoted campaigns through the celebration of world days for different types of functional diversity. This research aims to monitor and analyze the impact of these social campaigns in Spain, including Asperger’s syndrome, rare diseases, Down syndrome, autism, hearing and visual impairment, cerebral palsy, dyslexia, ADHD, spina bifida, disability, and dyscalculia world days, between 2015 and 2020. (2) The impact of each campaign on the press, Google, and Twitter has been analyzed using: MyNews, Google Trends, and Trendinalia. (3) The results suggest a close relationship between the impact on the number of pieces of news generated in the press, the searches on Google, and the hashtags in high positions on Twitter. (4) The campaigns with the greatest levels of success are those whose diagnoses involve greater difficulties in adaptive behavior. These results can provide some practical implications for future campaigns.
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Castro, Paula M., Ana Ares-Pernas, and Adriana Dapena. "Service-Learning Projects in University Degrees Based on Sustainable Development Goals: Proposals and Results." Sustainability 12, no. 19 (2020): 7940. http://dx.doi.org/10.3390/su12197940.
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We present several Service-Learning projects developed considering Sustainable Development Goals to provide the students skills for the support of a sustainable society. This project begins with collecting initial impressions from surveys and reflections to know both the students’ expectations and their degree of involvement in the development of a sustainable society. Next, the students design academic projects taking into account the needs of the specific collective to which the Service-Learning activity is oriented. When this design has finished, such projects are developed with the users and the activity is evaluated. During 2019–2020, these projects were done with four entities oriented to people either with Asperger’s syndrome, Down syndrome, Alzheimer’s disease or mental health illnesses. A total of 35 and 10 students, respectively, from the Bachelor’s Degree of Engineering in Industrial Design and Product Development and from the Master’s Degree in Professorship of High School have participated in this experience. We analyze the results from the perspective of the different agents involved, considering both qualitative and quantitative metrics. The results show that both users and staff are satisfied with this collaboration between the university and their entities. Moreover, this experience clearly has contributed to a better personal and professional student’s development.
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Lykkegaard, Kirsten, Grant McFetridge, and Mary Pellicer. "The Subcellular Psychobiology Theory: Epigenetic Biology of Trauma." Journal of Prenatal and Perinatal Psychology and Health 39, no. 1 (2025): 60–72. https://doi.org/10.62858/apph250404.
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One of the biggest unknowns in epigenetic research is how to target specific genes to restore their inhibited expression. In this paper, we give a solution to this problem by describing how to target and repair an epigenetically inhibited gene using simple psychological trauma-healing techniques (e.g., Eye Movement Desensitization and Reprocessing (EMDR)). Importantly, we also show how to find the causes of psychological disorders, other diseases of unknown etiology, and the relevant inhibited genes of these disorders and diseases. Together, this means that a psychotherapist, using simple trauma-healing techniques, can target and quickly eliminate a specific psychological disorder in their clients. Most importantly, we can now treat disorders that were not treatable before. In this paper, part two of a three-part series, we derive the subcellular psychobiology theory by examining the biology of the primary cell (Lykkegaard et al., 2024). Using prenatal regression to observe the cell interior, we find that traumatic memories are accessed in ribosomes inside the primary cell. In turn, we show how epigenetically damaged gene coatings are the source of the traumatic feelings found in these memories. Effective trauma-healing techniques take advantage of this intracellular biology. We also discuss some safety issues with research using psychobiology techniques that interact with or change the primary cell’s intracellular biology. Part three of this paper (published in JOPPPAH Summer 2025) gives three examples of practical applications of the subcellular psychobiology theory: dizziness, hearing voices, and Asperger’s Syndrome.
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Thornton, Kirtley E. "Neurotherapy and Connectivity." Biofeedback 44, no. 4 (2016): 218–24. http://dx.doi.org/10.5298/1081-5937-44.4.03.
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Much of the research involving the quantitative EEG (QEEG), in terms of scientific research and clinical interventions, has focused on the four frequency ranges (Delta, Theta, Alpha, Beta) and their respective amplitudes (microvolt levels). The Beta frequency has typically been separated into segments defined by frequency. These measures can be conceptualized as involving different measures of the brain's arousal level. The other conceptual measure is focused on the communication patterns within the brain and involves coherence and phase measures. These communication measures have revealed scientific and clinically relevant information regarding the brain's functioning. This paper examines the communication problems and patterns in the brain in different clinical conditions: autism, Asperger syndrome, schizophrenia, bipolar disorder, Alzheimer's disease/dementia, depression, traumatic brain injury, and cognitive performance. The consistent pattern across all of these conditions is that a decrease in the communication values is related to an increased probability of the presence of the diagnosis.
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Cao, Yang I. "Amelioration of COVID-19 comorbid depressions via interleukin 6 with agomelatine." Journal of Biological Regulators and Homeostatic Agents 39, no. 2 (2025): 3377. https://doi.org/10.54517/jbrha3377.
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<p><strong>Background:</strong> Existing research has found that the Spike 2 protein of the Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV) is homogenous to the gp41 protein of the Human Immunodeficiency Virus-1. Postmortem SARS-CoV-2 patients are reported to exhibit microglial activation and expression of interleukin (IL)-1β and IL-6, corroborating with the other in vitro observations.<strong> Methods:</strong> The translational research draws upon the phenomena from metacognition in dreams to achieve the therapeutic solution conception on Coronavirus Disease 2019 (COVID-19) vaccination-induced central nervous system (CNS) cytokine expression. <strong>Results:</strong> Partial milestones have been achieved with cognitive-behavioral therapy in combination with agomelatine and γ-aminobutyric acid stimulation physical therapy, and the direct evidence suggests that the temporal amelioration was contributed by interleukin 6 inhibition with Agomelatine’s mechanism of action. The photic and nonphotic treatment designs have progressed in the clinical trials by the evidence-based medicine method. <strong>Conclusions:</strong> The conservation of the circadian CNS function is the main direction for the purpose of the study design progress, and the case study for the participant with Asperger’s Syndrome indicates the correlation of migraine in autism spectrum disorder with interferon-λ.</p>
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Villarreal, Veronica R., Maja Z. Katusic, Scott M. Myers, Amy L. Weaver, James J. Nocton, and Robert G. Voigt. "Risk of Autoimmune Disease in Research-Identified Cases of Autism Spectrum Disorder: A Longitudinal, Population-Based Birth Cohort Study." Journal of Developmental & Behavioral Pediatrics 45, no. 1 (2024): e46-e53. http://dx.doi.org/10.1097/dbp.0000000000001232.
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ABSTRACT: Objective: Determine the risk of autoimmune disease in research-identified cases of autism spectrum disorder (ASD) compared with referents using a longitudinal, population-based birth cohort. Methods: ASD incident cases were identified from a population-based birth cohort of 31,220 individuals. Inclusive ASD definition based on DSM-IV-TR autistic disorder, Asperger syndrome, and pervasive developmental disorder, not otherwise specified, was used to determine ASD cases. For each ASD case, 2 age- and sex-matched referents without ASD were identified. Diagnosis codes assigned between birth and December 2017 were electronically obtained. Individuals were classified as having an autoimmune disorder if they had at least 2 diagnosis codes more than 30 days apart. Cox proportional hazards models were fit to estimate the hazard ratio (HR) between ASD status and autoimmune disorder. Results: Of 1014 ASD cases, 747 (73.7%) were male. Fifty ASD cases and 59 of the 1:2 matched referents were diagnosed with first autoimmune disorder at the median age of 14 and 17.1 years, respectively. ASD cases had increased risk of autoimmune disease compared with matched referents (HR 1.74; 95% confidence interval [CI], 1.21–2.52). The increased risk was statistically significant among male patients (HR 2.01; 95% CI, 1.26–3.21) but not among the smaller number of female subjects (HR 1.38; 95% CI, 0.76–2.50). Conclusion: This study provides evidence from a longitudinal, population-based birth cohort for co-occurrence of ASD and autoimmune disorders. Thus, children with ASD should be monitored for symptoms of autoimmune disease and appropriate workup initiated.
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Lyra, Larissa, Luiz Eduardo Rizzo, Camila Sá Sunahara, et al. "What do Cochrane systematic reviews say about interventions for autism spectrum disorders?" Sao Paulo Medical Journal 135, no. 2 (2017): 192–201. http://dx.doi.org/10.1590/1516-3180.2017.0058200317.
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ABSTRACT CONTEXT AND OBJECTIVE: Autism spectrum disorders (ASDs) include autistic disorder, Asperger’s disorder and pervasive developmental disorder. The manifestations of ASDs can have an important impact on learning and social functioning that may persist during adulthood. The aim here was to summarize the evidence from Cochrane systematic reviews on interventions for ASDs. DESIGN AND SETTING: Review of systematic reviews, conducted within the Discipline of Evidence-Based Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo. METHODS: We included and summarized the results from Cochrane systematic reviews on interventions for ASDs. RESULTS: Seventeen reviews were included. These found weak evidence of benefits from acupuncture, gluten and casein-free diets, early intensive behavioral interventions, music therapy, parent-mediated early interventions, social skill groups, Theory of Mind cognitive model, aripiprazole, risperidone, tricyclic antidepressants and selective serotonin reuptake inhibitors (SSRI); this last only for adults. No benefits were found for sound therapies, chelating agents, hyperbaric oxygen therapy, omega-3, secretin, vitamin B6/magnesium and SSRI for children. CONCLUSION: Acupuncture, gluten and casein-free diets, early intensive behavioral interventions, music therapy, parent-mediated early interventions, social skill groups and the Theory of Mind cognitive model seem to have benefits for patients with autism spectrum disorders (very low to low-quality evidence). Aripiprazole, risperidone, tricyclic antidepressants and SSRI (this last only for adults) also showed some benefits, although associated with higher risk of adverse events. Experimental studies to confirm a link between probable therapies and the disease, and then high-quality long-term clinical trials, are needed.
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Mohamed, Mona, and Samah Ibrahim AbdelAal. "Auto-ASD Detector: Exploiting Computational Intelligence for autism spectrum disorders Detection in Children via Facial Analysis." Journal of Artificial Intelligence and Metaheuristics 3, no. 1 (2023): 42–50. http://dx.doi.org/10.54216/jaim.030104.
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Asperger's syndrome, difficulties with disintegration in children, and autism are all included in the category of complex neurodevelopmental diseases known as autism spectrum disorders (ASD). Individuals who are autistic struggle greatly to keep up with society's speed, have poor communication skills, and struggle to express their emotions in the right ways. Early diagnosis and intervention can greatly improve the long-term outcomes for children with ASD. Several studies have identified key characteristics of autism using a variety of methods, including feature extraction, eye tracking, and speech recognition. As opposed to a person's emotional condition, facial recognition is more crucial in identifying autism. Early diagnosis and intervention can greatly improve the long-term outcomes for children with ASD. Hence, cutting-edge information technology that employs artificial intelligence (AI) techniques has assisted in the early diagnosis of ASD based on face pattern recognition. Among these techniques are deep learning (DL) have been utilized or suggested for detecting autism in youngsters. Herein, we applied a technique for accurate autism detection in children using facial analysis with the aid of computational intelligence. The proposed approach involves analyzing facial features and expressions to identify patterns which are associated with ASD. This is achieved by leveraging application of convolutional neural network (CNNs) to extract meaningful features from facial images. The extracted features are used to accurately classify children as either having or not having ASD. To evaluate the proposed approach, a dataset of facial images of children with and without ASD is used to train and validate the proposed technique. Also, to assess their performance in accurately detecting ASD. The proposed technique has the potential to revolutionize the way ASD is diagnosed by providing an objective and reliable tool for early detection and intervention.
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Lintas, Carla, Ilaria Cassano, Alessia Azzarà, et al. "Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders." Genes 14, no. 3 (2023): 585. http://dx.doi.org/10.3390/genes14030585.
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Neurodevelopmental Disorders (NDs) are a heterogeneous group of disorders and are considered multifactorial diseases with both genetic and environmental components. Epigenetic dysregulation driven by adverse environmental factors has recently been documented in neurodevelopmental disorders as the possible etiological agent for their onset. However, most studies have focused on the epigenomes of the probands rather than on a possible epigenetic dysregulation arising in their mothers and influencing neurodevelopment during pregnancy. The aim of this research was to analyze the methylation profile of four well-known genes involved in neurodevelopment (BDNF, RELN, MTHFR and HTR1A) in the mothers of forty-five age-matched AS (Asperger Syndrome), ADHD (Attention Deficit Hyperactivity Disorder) and typically developing children. We found a significant increase of methylation at the promoter of the RELN and HTR1A genes in AS mothers compared to ADHD and healthy control mothers. For the MTHFR gene, promoter methylation was significantly higher in AS mothers compared to healthy control mothers only. The observed dysregulation in AS mothers could potentially contribute to the affected condition in their children deserving further investigation.
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Androsova, L., N. Simashkova, S. Zozulya, O. Shushpanova, I. Otman, and T. Klyushnik. "Inflammation and autoimmune indicators in the differential diagnosis of autism spectrum disorders in children." European Psychiatry 65, S1 (2022): S364. http://dx.doi.org/10.1192/j.eurpsy.2022.925.
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Introduction Autism spectrum disorders (ASD) is one of the most urgent problems of psychiatry because of their high prevalence, diagnostic difficulties as well as insufficient knowledge of the pathogenetic mechanisms. Objectives To determine the number of inflammation markers in patients with various forms of ASD in links with features of a clinical condition for creating diagnostic criteria for differential diagnosis and improve reliability. Methods The clinical examination of patients (135 children with various ASD forms) was carried out by using psychometric scales (CARS, BFCRS, CGI-S). The activity of inflammation markers (LE and α1-PI) and the level of autoantibodies to S-100b and MBP were measured in plasma. Complex evaluation of immune system activation was also conducted, taking into consideration interactions of innate and adaptive immunity. Results Non-psychotic ASD forms (Asperger’s syndrome and Kanner’s syndrome) were not accompanied by a change of the immunological indices in comparison with control. In psychotic ASD forms, a significant increase of the studied indices was revealed (р<0.05). Correlation between the complex evaluation of the immune system activation and the stage of the disease (r=0.49, р<0.05) was demonstrated. Also the significant correlations between the severity of autistic disorders according to CARS (r=0.48, p<0.05), catatonic disorders by BFCRS (r=0.42, p<0.05), and the assessment by CGI (r= 0.61, p<0.05) were observed. Conclusions The immune markers as well as their complex evaluation may be used as additional diagnostic criteria in the clinical examination for differential ASD diagnostics and assessment of the quality of remission, and also monitoring of the patient condition. Disclosure No significant relationships.
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Carmassi, Claudia, Carlo Antonio Bertelloni, Gianluca Salarpi, et al. "Is There a Major Role for Undetected Autism Spectrum Disorder with Childhood Trauma in a Patient with a Diagnosis of Bipolar Disorder, Self-Injuring, and Multiple Comorbidities?" Case Reports in Psychiatry 2019 (May 26, 2019): 1–6. http://dx.doi.org/10.1155/2019/4703795.
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This case report highlights the relevance of the consequences of trauma in a female patient with an undetected autism spectrum disorder (ASD) affected by bipolar disorder (BD) with multiple comorbidities. A 35-year-old woman with BD type II, binge eating disorder and panic disorder was admitted in the Inpatient Unit of the Psychiatric Clinic of the University of Pisa because of a recrudescence of depressive symptomatology, associated with increase of anxiety, noticeable ruminations, significant alteration in neurovegetative pattern, and serious suicide ideation. During the hospitalization, a diagnosis of ASD emerged besides a history of childhood trauma and affective dysregulation, marked impulsivity, feeling of emptiness, and self-harm behavior. The patient was assessed by the Autism-Spectrum Quotient (AQ), Ritvo Autism and Asperger Diagnostic Scale (RAADS-R), the Adult Autism Subthreshold Spectrum (AdAS Spectrum), Trauma and Loss Spectrum (TALS-SR), and Ruminative Response Scale (RRS). Total scores of 38/50 in the AQ, 146/240 in the RAADS-R, 99/160 in the AdAS Spectrum emerged, compatible with ASD, 47/116 in the TALS-SR, and 64/88 in the RRS. We discuss the implications of the trauma she underwent during her childhood, in the sense that caused a complex posttraumatic disorder, a lifelong disease favored and boosted by the rumination tendency of high functioning ASD.
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Orlova, E. A., Yu A. Kandrashkina, E. Yu Trushina, and E. M. Kostina. "Patient with comorbid pathology: is ASIT possible?" Allergology and Immunology in Paediatrics, no. 2 (June 24, 2024): 82–88. http://dx.doi.org/10.53529/2500-1175-2024-2-82-88.
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Introduction. ASIT is characterized by a high safety profile, however, when prescribing ASIT, indications and certain contraindications should be taken into account, knowledge of which is mandatory for every practicing allergist. In recent years, clinical contraindications to ASIT have been revised due to the publication of the Position Paper of the European Academy of Allergy and Clinical Immunology (EAACI). The decision to prescribe ASIT is based on an assessment of the individual patient’s condition, analysis of indications, consideration of contraindications to ASIT, assessment of concomitant diseases, and their pharmacotherapy. The doctor must make the final decision when prescribing allergen treatment, weighing the risk-benefit ratio. Refusal to perform ASIT on a patient with must be clearly reasoned and justified.Presentation of a clinical case. A child aged 11 years was observed with a diagnosis of allergic bronchial asthma, mild intermittent course. Allergic rhinitis, persistent course. Allergy to trees, cereals, weeds. Cross food allergy (peas, melon) with clinical manifestations in the form of oral allergic syndrome, acute urticaria, angioedema of the lips and tongue. Asperger’s syndrome. Congenital cataract. Despite the annual progression of respiratory allergies and the expansion of the spectrum of sensitization, the patient was not offered ASIT for a long time if there were indications for its implementation due to the presence of comorbid pathology. The presence of mental illness, according to the Position Document, is a relative contraindication to ASIT. ASIT with the therapeutic allergen Grazax is not accompanied by side effects and is characterized by high compliance, which led to a significant therapeutic effect.Conclusion. This clinical observation clearly demonstrates a situation where the initial refusal to administer ASIT to a patient with an indication for this type of treatment was unfounded. Even in the case of complex comorbid pathology, ASIT can be performed effectively and safely.
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Vllasaliu, Leonora, Katrin Jensen, Matthias Dose, et al. "Diagnostik von Autismus- Spektrum-Störungen im Kindes-, Jugend- und Erwachsenenalter: Überblick zu den wesentlichen Fragestellungen und Ergebnissen des ersten Teils der S3-Leitlinie." Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie 47, no. 4 (2019): 359–70. http://dx.doi.org/10.1024/1422-4917/a000621.
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Zusammenfassung. Hintergrund: Autismus-Spektrum-Störungen (ASS) umfassen die ICD-10-Diagnosen (International Statistical Classification of Diseases and Related Health Problems) frühkindlicher Autismus, Asperger-Syndrom und atypischer Autismus und zeigen eine Lebenszeitprävalenz von bis zu 1 %. Die S3-Leitlinie der Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften e. V. hat zum Ziel, evidenzbasierte Diagnostik und Therapie für professionelle Akteure im Gesundheits- und Sozialsystem systematisch zusammenzufassen und klinische Empfehlungen zu konsentieren. Der vorliegende Artikel fasst die wesentlichen Ergebnisse zum Teil Diagnostik zusammen. Methodik: Die Leitliniengruppe besteht aus 14 klinischen und wissenschaftlichen Fachgesellschaften sowie Patienten-/Angehörigen-Vertretern. Die Empfehlungen basieren dabei auf den Ergebnissen systematischer Literatursuche, Datenextraktion, Studienqualitäts-Bewertung sowie metaanalytischer Datenaggregation in Kombination mit der klinischen Expertise der jeweiligen Vertreter. Die Empfehlungen wurden anhand eines nominalen Gruppenprozesses abgestimmt. Ergebnisse: Der aktuelle Forschungsstand zur Diagnostik wird zusammengefasst. Dabei liegt ein besonderer Schwerpunkt auf der Frage der Notwendigkeit und Entbehrlichkeit verschiedener Bestandteile des diagnostischen Prozesses. Nach einer allgemeinen Einführung zum Krankheitsbild werden insbesondere die wesentlichen Aspekte der Anamnese, die sinnvolle Verwendung von Screening- und Diagnostikinstrumenten, die internistisch-neurologische Untersuchung, apparative Diagnostik, testpsychologische Untersuchung, Aufklärung und Beratung sowie sinnvolle Verlaufsdiagnostik detailliert dargestellt. Schlussfolgerung: Die ASS-Leitlinie gibt evidenzbasierte, klinisch konsentierte Empfehlungen zum Prozess der Diagnostik von ASS im Kindes-, Jugend- und Erwachsenenalter. Sie bietet Anwendern zudem die Möglichkeit, sich in kurzer Zeit über die Hintergründe der Störung sowie verschiedene diagnostische Instrumente zu informieren.
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Джумалиева, М. А., та Т. С. Буйлашев. "РАСПРОСТРАНЁННОСТЬ И СТРУКТУРА ЗАБОЛЕВАЕМОСТИ ДЕТЕЙ С РАССТРОЙСТВАМИ АУТИСТИЧЕСКОГО СПЕКТРА (РАС), ОБРАТИВШИХСЯ ЗА СТОМАТОЛОГИЧЕСКОЙ ПОМОЩЬЮ". НАУКА, НОВЫЕ ТЕХНОЛОГИИ И ИННОВАЦИИ КЫРГЫЗСТАНА, № 6 (27 червня 2024): 60–64. https://doi.org/10.26104/nntik.2023.38.61.013.
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В статье, посвященной проблеме распространённости и структуры заболеваемости детей с расстройствами аутического спектра (РАС) в Кыргызской Республике, рассматриваются результаты ретроспективного изучения архивного материала 745 детей с РАС, находящихся на диспансерном учете в Национальном центре охраны материнства и детства Министерства здравоохранения Кыргызской Республики за период с 2020 по 2022 годы. Были обследованы 92 ребенка с РАС, которые обратились за стоматологической помощью и им проводились различные стоматологические мероприятия (12,3%). Выявлены различные формам РАС среди этих детей: синдром Аспергера (легкая форма) наблюдался у 5,4% пациентов, синдром Каннера (классическая форма) – 75%, синдром Ретта (тяжелая, прогрессирующая форма) – 16,3%, атипичный аутизм – 3,2%. В структуре сочетанных сопутствующих заболеваний у детей с РАС, метеоризмы составили наибольшее число – 30,4%, а второе место занимает гастрит – 21,7% случаев. Далее выявлены такие сопутствующие заболевания как гастродуоденит – 16,3%, запоры – 13,1%, язвенный колит – 10,9%, гастроэзофагеальная болезнь – 7,6% случаев. Кыргыз Республикасында аутизм спектринин бузулушу (АСБ) менен ооруган балдардын таралуу проблемасына жана ооруга чалдыгуу түзүмүнө арналган макалада 2020-2022-жылдар аралыгында Кыргыз Республикасынын Саламаттык сактоо министрлигинин эне жана баланы коргоо улуттук Борборунда диспансердик каттоодо турган АСБ менен ооруган 745 баланын архивдик материалдарын ретроспективдүү изилдөөнүн жыйынтыктары каралат. АСБ менен ооруган 92 бала стоматологиялык жардам сурап, ар кандай стоматологиялык чараларды көрүшкөн (12,3%). Бул балдардын арасында АСБнын ар кандай формалары аныкталган: Аспергер синдрому (жеңил түрү) бейтаптардын 5,4%, Каннер синдрому (классикалык формасы) 75%, Ретт синдрому (оор, прогрессивдүү формасы) 16,3%, атипикалык аутизм – 3,2%. АСБ менен ооруган балдардын айкалышкан ооруларынын структурасында метеоризм эң көп санды – 30,4% түздү, ал эми гастрит 21,7% учурларда экинчи орунда турат. Андан ары гастродуоденит – 16,3%, ич катуу – 13,1%, жаралуу колит – 10,9%, гастроэзофагеалдык оору – 7,6% учурлар аныкталган. The article devoted to the problem of the prevalence and structure of morbidity of children with autism spectrum disorders (ASD) in the Kyrgyz Republic examines the results of a retrospective study of archival material of 745 children with ASD registered at the National Center for Maternal and Child Health of the Ministry of Health of the Kyrgyz Republic for the period from 2020 to 2022. 92 children with ASD who sought dental care and underwent various dental activities (12.3%) were examined. Various forms of ASD were identified among these children: Asperger syndrome (mild form) was observed in 5.4% of patients, Kanner syndrome (classical form) – 75%, Rett syndrome (severe, progressive form) – 16.3%, atypical autism - 3.2%. In the structure of combined concomitant diseases in children with ASD, flatulence accounted for the largest number - 30.4%, and gastritis occupies the second place - 21.7% of cases. Further, concomitant diseases such as gastroduodenitis – 16.3%, constipation – 13.1%, ulcerative colitis - 10.9%, gastroesophageal disease - 7.6% of cases were identified.
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Williams, Lisa M., Zongming Fu, Pratima Dulloor, et al. "Proteomic-Based Approach for Biomarker Discovery to Predict Silent Cerebral Infarct in Patients with Sickle Cell Disease." Blood 114, no. 22 (2009): 2579. http://dx.doi.org/10.1182/blood.v114.22.2579.2579.
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Abstract Abstract 2579 Poster Board II-556 Silent cerebral infarction (SCI) is part of a spectrum of cerebrovascular disease, occurs in approximately 22% of children with sickle cell disease (SCD) and is associated with decreased cognitive function. While several plasma biomarkers have been shown to be elevated in acute stroke, to our knowledge none have been evaluated in SCD or SCI. The aim of this study was to develop a reliable pipeline to identify low abundance plasma proteins that correlate with SCI in patients with SCD. We used a proteomic discovery approach involving three sequential separation steps in order to compare the plasma proteomes in a discovery set of 15 children with SCD (7 children with SCI and 8 children without SCI). Baseline steady state plasma samples obtained from the Silent Infarct Transfusion (SIT) Trial Biologic Repository were matched for age and WBC. In the first dimension, hemoglobin was depleted with nickel-nitrilotriacetic acid (Ni-NTA). Subsequently, second dimension separation and enrichment was achieved by immunoaffinity depletion of the 12 most abundant proteins (ProteomeLab IgY-12 LC10) followed by third dimension separation by reverse phase liquid chromatography fractionation (RPLC) using a C18 column and a linear acetonitrile gradient. Collected fractions were subjected to tryptic digestion and analyzed using label-free quantification on a LTQ-Orbitrap (Thermo) mass spectrometer. The MS/MS data were analyzed using the Proteomics Analyzer Software System (PASS) version 4.0.10 (Integrated Analysis Inc, Bethesda, MD) with X! Tandem searches (www.thegpm.org; version 2008.12.01) using the human IPI database. Identified proteins were compared to databases of brain specific and brain enriched proteins to identify candidate biomarker proteins for SCI. After hemoglobin depletion, 71% of total protein was removed. On average, protein recovery after the LC-12 column was 4% of the total Ni-NTA depleted protein. Of the 9800 proteins that were identified in the plasma proteome of children with SCD, 23 were brain specific proteins. Evaluation of the relative abundance by spectral counts (SC) revealed 3 brain-related proteins that were over-represented in patients with SCI: microtubule-associated protein tau (a neurofibrillary tangle protein implicated in Alzheimer disease, frontotemporal dementia and parkinsonism), neuroligin-3 (a neuronal cell surface protein proposed to be involved in cell-cell-interactions via binding to beta-neurexins and implicated in autism and Asperger syndrome), and nucleosome-remodeling factor subunit BPTF (a histone-binding component of nucleosome-remodeling factor that is abundantly expressed in the fetal brain and re-expressed in neurodegenerative diseases). Reticulon-4, a potent neurite growth inhibitor involved in the restriction of axonal regeneration after injury, was under-represented in patients with SCI. After depletion of hemoglobin and other high abundant proteins, we were able to develop a database of plasma proteins in children with SCD and to identify brain specific proteins as potential surrogate markers of brain injury. These markers may be implicated in the pathophysiology of SCI. Although validation studies are necessary to determine the relevance of these candidate biomarkers in SCI and SCD, our methodology appears to be a practical approach to proteomic discovery in patients with hemolytic anemia. Disclosures: Casella: Boehringer Ingelheim: Honoraria, Research Funding, Travel funding.
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Frith, Uta, and Elisabeth L. Hill. "Introduction." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 358, no. 1430 (2003): 277–80. http://dx.doi.org/10.1098/rstb.2002.1212.
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Although we know much more now than we did 50 years ago about autism, the nature, origin and even the definition of the condition are still debated and remain largely unknown. This special issue begins with a review of the facts about autistic disorders, as they are known at present. In their introduction, Elizabeth Hill & Uta Frith (2003) remind the reader that autism is no longer regarded as a rare disease. They provide examples of genetic and brain research that targets the biological causes of autism and they review the three major cognitive theories that are currently used to explain the core signs and symptoms of autism. Much more is known now about autism than was known only a few years ago, and there is justified hope that our understanding of autism will continue to accelerate at a fast pace. This issue contains examples of the cutting edge of research and highlights some of the most burning questions. Some of these relate to the diagnosis of Asperger syndrome (AS), the identification of subgroups in the autism spectrum and early signs of autistic disorder. Other questions relate to the brain abnormalities that underlie the putative cognitive deficits and whether these can be made visible through magnetic resonance imaging. The shared assumption among the contributors is that autism is a neurodevelopmental disorder that gives us a unique window on the relationship between mind and brain. The research reported elaborates the key theories that have been put forward to explain the signs and symptoms of autism. These theories try to explain the selective impact of brain abnormality on some of the most high–level mental functions, such as social insight, empathy and information processing style.
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Rianda, D., R. Agustina, E. A. Setiawan, and N. R. M. Manikam. "Effect of probiotic supplementation on cognitive function in children and adolescents: a systematic review of randomised trials." Beneficial Microbes 10, no. 8 (2019): 873–82. http://dx.doi.org/10.3920/bm2019.0068.
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Available reviews have shown potential effects of probiotics on neurobehavioral outcomes through ‘gut-brain axis’ mechanism in adults. However, reviews on cognitive function in children and adolescents are lacking. Therefore, we conducted a systematic review of randomised controlled trials (RCTs) of the effect of probiotic supplementation on cognitive function in children and adolescents. A search of four databases (Cochrane Central Register of Controlled Trials, PsycARTICLES, Scopus, PubMed) was conducted to identify RCTs published from January 1990 to December 2018. Seven studies met the inclusion criteria and their cognitive outcomes were analysed. Only one study found a positive result with Lactobacillus rhamnosus GG (LGG) 1×1010 cfu supplementation with outcomes on attention deficit hyperactivity disorder (ADHD) or Asperger syndrome (AS) manifestations as diagnosed using the International Classification of Diseases-10 criteria. The supplementations were administered to Finnish mothers for 4 weeks before delivery and continuously given for 6 months after delivery if they breastfed, or to the children. ADHD or AS was diagnosed at the age of 13 years in 17.1% children in the placebo and none in the probiotic group (P=0.008). This study found significant differences in species composition and number of cells belonging to the genus Bifidobacterium between healthy children and children who later developed ADHD or AS at different time points. Six remaining studies with varying strains, durations of intervention, start-time of administration, and outcomes demonstrated no difference in cognition after probiotic supplementation. Metagenomic analyses on gut microbiota composition were not performed in any of these studies. In conclusion, the favourable effect of probiotic supplementation on cognitive function in children and adolescents was observed in one study with LGG supplementation by a risk reduction of developing ADHD or AS (i.e. autism). More long-term and follow-up trials using probiotics identifying the effect on cognition are warranted before routine use.
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Aguilar Jaramillo, Andrés Manuel, Ricardo Bautista de la Cruz, José Antonio Bautista Sánchez, Luis Cruz Benítez, Daniel Nazario Cruz, and Dafne Thamara Ayala Dávila. "Obstrucción intestinal secundario a vólvulo de sigmoides en un paciente joven. Reporte de un caso." Revista de la Facultad de Medicina 66, no. 5 (2023): 42–49. http://dx.doi.org/10.22201/fm.24484865e.2023.66.5.05.
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Sigmoid volvulus occurs due to a torsion of the colonic mes¬enteric axis, it has a multifactorial and controversial etiology, and its pathophysiology is not yet clear. Presenting a clinical picture of non-specific onset and later signs and symptoms of intestinal occlusion, its diagnosis is established with computed tomography with a sensitivity and specificity greater than 90%. Management will depend on the clinical condition of the patient. Clinical case: A 29-year-old man with a history of Asperger syndrome. He referred 7 days prior to admission with dif¬fuse cramping pain, associated with abdominal distension and oral intolerance. He went to the hospital for evaluation where a computed tomography was performed with air-fluid levels, torsion of the inferior mesenteric artery with a whirl¬wind appearance. Exploratory laparotomy was performed, finding a dilated and volvulated sigmoid with perforation at the rectosigmoid junction. A sigmoidectomy with colorectal anastomosis was performed. On the fifth day, he presented data of inflammatory response with acute abdomen, enter¬ing exploratory laparotomy finding anastomosis dehiscence, Hartmann procedure was performed. The patient presented septic shock, died 24 hours after surgery. Discussion: The presentation of sigmoid volvulus generally occurs in people older than 70 years, few cases are described in young people and are related to intestinal dysmotility dis¬ease, the patient did not have predisposing factors, the diag¬nosis is established with characteristic images of the disease such as whirlwind image, surgical management is decided by performing resection with colorectal anastomosis. Conclusion: Intestinal occlusion due to sigmoid volvulus is an infrequent pathology in young people and with non-specific symptoms. When faced with a patient presenting evidence of intestinal occlusion, this should be appropriately addressed, especially in patients who have debuted with insidious and persistent symptoms of abdominal pain secondary to intestinal occlusion, whether they are young with or without risk factors.Keywords: Sigmoid volvulus; whirlwind sign; abdominal pain; intestinal obstruction.
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Swathi, Krishna KV, Anitha Vasunoori, Hemalatha Vasunoori, Aravindh Vinukonda, Poojasree Yalakapalli, and Suneel kumar Yarraballi. "A review on Angelman syndrome." World Journal of Advanced Research and Reviews 17, no. 3 (2023): 070–86. https://doi.org/10.5281/zenodo.8123172.
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"Angelman syndrome" AS seems to be a neurodevelopmental illness for whom significant aspects were learning impairment, total absence like presentation, convulsions, and a character trait behavior resume. Its behavior includes the delighted public persona, easily angered amusement, hard time concentrating, and hyper motoric actions, swearing like things, disruptive behavior, and an attachment such as liquid. Developmental problems and delicate dysphoric includes, along with incoordination and other mobility disruptions, have been extra functionality in essential people with the condition. And so is resulting from short invocation of something like the tubulin nutrient ubiquitin E3A (ube3a) mutation, which shows parental bonding. There are four single-molecule classrooms upon as, and somegenotype–phenotype collinearity has popped up. More than stays to be acknowledged about why issues like E6-AP and its nutrient merchandise like UBE3A end up in its noticed neurobehavioral deficit spending. Research like animal studies has allegedly involved UBE3A along with experience-dependent synapses redeveloping. Its pharmacogenetic facets include Angelman disorder, its basic biomolecular tenets, and access to basic service methods. And so is one neurobehavioral disorder that is characterized while also a severely impaired handicap, engine failure to thrive, communication difficulties, impulsiveness, but also ordinary epileptic fits. And so is attributable to interruption of prenatally conveyed but also generationally ingrained UBE3A, which also lossless encoding the ubiquitin secondments. Four methods in the production of its gene encoding UBE3A non - functional were also acknowledged, the most typical of which would be the deactivation of such motherly love human chromosome 15q11-q13. Amazingly, redundancy with the same human chromosome is amongst the few best-described continual chromosomal mutations linked to asperger's syndrome disease, cropping up along >1–2 Percentage among all situations like autism diagnosis. While outcome morphological characteristics of something like the central nervous system and communication like neurons projected numbers are mainly standard in animal studies, primary operating deficiencies were also discovered just at a standard like discussion training. Also, they impeded developmental processes like learning, memory, and neurogenesis circuit design. Offers similar promote confidence a significant involvement such as proteolysis protein ligase E3A along synapses advancement, its operations to dysfunction like tubulin transcription factor E3A results samples pathogenic mechanisms along living beings poor job performance did understand. but even so, current attempts have also shown keep promising through trying to restore continues to function interrupted into it as mouse model, reactivating keep hoping how the effectiveness of treatment's management strategic plan could be discovered.
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Philippe, Anne. "Alternatives to Gold Standard Diagnostic Tools for Distinguishing “Natural Kinds” on the Autism Spectrum." Frontiers in Psychiatry 13 (June 6, 2022). http://dx.doi.org/10.3389/fpsyt.2022.862410.
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Next-generation sequencing techniques have accelerated the discovery of rare mutations responsible for autism spectrum disorder (ASD) in genes involved in a large number of physiological processes, including the control of gene expression, chromatin remodeling, signaling pathways, synaptic scaffolding, neurotransmitter receptors, and lipid metabolism. Genetic diagnosis provides subjects with an explanation of the cause of their disorder. However, it does not, or at least does not yet, shed light on the psychopathological phenomena specific to the individual. It could be hypothesized that each physiological impact of a mutation corresponds to a specific psychopathological phenomenon of ASD, i.e., “a psychopathological natural kind”. We discuss here the difficulties identifying this specificity of underlying psychopathology in individuals with ASD due to a rare mutation with a major effect. A comparison of Newson's pathological demand avoidance and Wing's Asperger's syndrome with Asperger's autistic psychopathy highlights different ways of approaching psychopathological descriptions and diagnosis, by focusing on either common or unusual features. Such a comparison calls into question the principles of clinical research recommended by Falret for characterizing “disease individuality” of ASD due to a rare mutation.
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Albayrak, İrem Gülfem, Şeyma Yektar, and Süeda Kaya. "Determination of damaging SNP’s in SHANK3 gene with in silico methods." Egyptian Journal of Medical Human Genetics 26, no. 1 (2025). https://doi.org/10.1186/s43042-025-00642-6.
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Abstract Background Asperger's syndrome, autism, and other neurodevelopmental diseases are all included under the general term autism spectrum disorder. The SHANK3 gene has a significant role in autism spectrum disorder; mutations in this gene are seen in roughly 1–2% of patients with both autism and intellectual disability. This genetic association provides insight concerning SHANK3's potential significance in the disorder's development. There is considerable evidence associating SHANK3 mutations to autism spectrum disorder; hence, it is worthwhile to investigate the underlying molecular genetic mechanisms of the disease. Results This research uses in silico approaches such as SIFT, PolyPhen-2, I-Mutant 2.0, and Project HOPE to find harmful SNPs, which are the single nucleotide polymorphisms the most prevalent types of genetic variation in humans, in the SHANK3 gene. After the analysis, from the NCBI dbSNP database, 1535 missense SNPs in the SHANK3 gene were identified, with 54 classified as deleterious. Among these, 30 SNPs were confirmed damaging by both SIFT and PolyPhen-2, and 28 led to increased protein stability while two decreased it. In the presented research, effects on protein structure of this SNPs are discussed. Conclusions This in silico study improves our understanding of the complicated molecular changes associated with the SHANK3 gene and contributes to a more comprehensive understanding of the genetic landscape. By deepening our knowledge of the genetic basis and molecular pathways linked to SHANK3 mutations, our findings may offer direction for focused experimental validations and treatment strategies for autism spectrum disorder.
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Chizh, D. I., E. V. Petrova, V. S. Muzhikov, and E. N. Obedkina. "PECULIARITIES OF EEG DIAGNOSTICS IN CHILDREN WITH AUTISM SPECTRUM DISORDERS." Ulyanovsk Medico-biological Journal, July 30, 2021, 69–82. http://dx.doi.org/10.34014/2227-1848-2021-2-69-82.
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Autism spectrum disorders are now occupying an increasingly large niche among childhood diseases and, according to some experts, have the potential to become a pandemic. Unlike many other disorders, autism spectrum disorders do not have a clear, unified mechanism, either at the cellular, molecular or structural levels. Currently, much literature is devoted to this topic, but there is no scientific consensus about the true reason. Despite a similar clinical picture, the etiopathogenetic mechanisms of these disorders can be different: from dysontogenesis and genetic mutations to exogenous factors. This article presents EEG patterns for various phenotypes and causes of autistic disorders. The functional variability of the brain functioning at different stages of the disease is observed. Theta rhythm (long-lasting and correlating with regression periods) dominates in the EEG picture of autistic disorders in Fragile X syndrome, Rett syndrome and atypical childhood psychosis. This fact makes it possible to assume that the pattern is peculiar to severe autistic disorders. In case of mild autism spectrum disorders or during remission, the beta-rhythm index and the sensorimotor rhythm increase. The alpha rhythm is often abnormal and falls off the age norms in frequency characteristics. Alpha rhythm indicates a favorable prognosis for patients with autism spectrum disorders. The functional variability of the brain functioning at different disease stages was observed. Keywords: autism spectrum disorders, autism, EEG, Kanner's syndrome, Asperger's syndrome, Rett syndrome, infantile psychosis, atypical autism, mirror neurons, mu rhythm. Расстройства аутистического спектра в настоящее время занимают все большую нишу в структуре детских заболеваний и, по мнению некоторых специалистов, принимают масштабы эпидемии. В отличие от многих других известных расстройств расстройства аутистического спектра не имеют четкого единого механизма ни на клеточном, ни на молекулярном, ни на структурном уровнях. В настоящее время имеется большое количество работ, посвященных данной теме, но ученые так и не пришли к единому мнению об истинной причине. Несмотря на схожую клиническую картину этиопатогенетические механизмы развития данных расстройств могут быть различными: от явлений дизонтогенеза и генетических мутаций до влияния экзогенных факторов. В данной статье представлены ЭЭГ-паттерны при различных фенотипах и причинах возникновения аутистических расстройств. Прослежена функциональная изменчивость работы мозга в различные стадии заболевания. В ЭЭГ-картине аутистических нарушений при синдроме Мартна – Белла, синдроме Ретта и атипичном детском психозе преобладает тета-ритм, как длительно, так и во взаимосвязи с периодами регресса, что дает возможность предполагать, что данный паттерн присущ тяжелым аутистическим расстройствам. При более легких расстройствах аутистического спектра или в периоды ремиссии увеличивается индекс бета-ритма, наблюдается нарастание сенсомоторного ритма. Альфа-ритм зачастую носит нерегулярный характер и несколько отстает по частотных характеристикам от возрастных норм. Наличие альфа-ритма свидетельствует о благоприятном прогнозе у пациентов с РАС. Прослежена функциональная изменчивость работы мозга в различные стадии заболевания. Ключевые слова: расстройства аутистического спектра, аутизм, ЭЭГ, синдром Каннера, синдром Аспергера, синдром Ретта, инфантильный психоз, атипичный аутизм, зеркальные нейроны, мю-ритм.
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Butrón-Téllez Girón, Claudia. "Consideraciones para la atención odontológica en un paciente con síndrome de Asperger. reporte de un caso." REVISTA ODONTOLOGÍA PEDIÁTRICA 17, no. 1 (2018). http://dx.doi.org/10.33738/spo.v17i1.118.
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El Síndrome de Asperger es una enfermedad del neurodesarrollo caracterizado por deficiencias en la interacción social y la comunicación,sin retraso en el desarrollo cognitivo y del lenguaje, considerado dentro de los Trastornos Generalizados del Desarrollo y de las Condiciones del Espectro Autista. Debido a las características de este síndrome estos pacientes requieren atención y técnicas conductuales específicas, parapoder realizar el tratamiento dental. El objetivo de este reporte es dar a conocer los cuidados y el manejo de conducta para el tratamiento dental en pacientes con Síndrome de Asperger. Palabras clave: Síndrome de Asperger, desensibilización sistemática, cuidado dental, salud bucal, prevención primaria, comportamiento. 
 AbstractAsperger syndrome is a disease of the neurodevelopmental characterized by deficiencies in social interaction and communication, without delay in cognitive development and language, and is considered within pervasive developmental disorders and the autism spectrumconditions. Due to the characteristics these patients require care and specific behavioral techniques, to perform dental treatment. The objective of this report is to present the care and behaviour management for dental treatment in patients with Asperger syndrome. Key words: Asperger syndrome, systematic desensitization, dental care, oral health, primary prevention, behaviour.
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Gaur, Malhar, and Bhavna Dave. "Current concepts of autism spectrum disorder: A literature review." Clinical Dentistry, May 21, 2023. http://dx.doi.org/10.33882/clinicaldent.15.33407.
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Autism spectrum disorder is characterized by difficulties in social interaction and communication with a restricted range of repetitive activities and behaviors. It is comprised of Autism, PDD-NOS, Asperger's disorder, childhood disintegrative disorder and Rett syndrome. Lifestyle of ASD children is commonly associated with poor oral hygiene, pica, self-injurious habits and oral diseases. Various modalities of dental therapy such as tell-show-do technique, visual pedagogy and sensory adaptation have been advocated to enable better examination of ASD children. Keywords- Autism spectrum disorder, disability, communication, oral health status, visual pedagogy
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Borisova, Yelena Viktorovna Sharapova Dilfuza Nematillayevna Turayev Bobir Temirpulotovich Shernazarov Farrukh. "CONCOMITANT MENTAL DISORDERS AND SOCIAL FUNCTIONING OF ADULTS WITH HIGH-FUNCTIONING AUTISM/ASPERGER SYNDROME." November 10, 2023. https://doi.org/10.5281/zenodo.10104048.
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<i>Catamnestic observations of patients with high-functioning autism / Asperger syndrome suggest that they may experience concomitant mental disorders in early adulthood. This usually happens against the background of an increase in social demands, a change in the stereotype of activity, unfavorable life circumstances or somatic diseases</i>
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Franco, Rafael, Rafael Rivas-Santisteban, Gemma Navarro, and Irene Reyes-Resina. "Cholesterol in autism spectrum disorders." Exploration of Neuroprotective Therapy, June 20, 2021. http://dx.doi.org/10.37349/ent.2021.00003.
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The autism spectrum disorder (ASD) comprises a series of neurological diseases that share serious alterations of the development of the central nervous system. The degree of disability may vary so that Asperger’s may have a relatively normal life and get positions of responsibility in corporations and even in Governments, whereas other ASD sufferers are fully dependent on caregivers and have serious cognitive deficits. Although the first cases of autism were detected by looking at failures in metabolism, e.g., phenylketonuria, to later identify the faulty gene, today the trend is the opposite, first obtaining the exome and minimizing the look for altered parameters in blood, urine, etc. Cholesterol is key for neural development as it is not able to cross the blood brain barrier. Therefore, any gene or environmental factor that affects cholesterol synthesis will impact early developmental stages eventually leading to a disease within the autism spectrum and/or schizophrenia. This review provides data of the relevance of cholesterol dyshomeostasis in autism spectrum disorders. Determining biochemical parameters in body fluids should help to provide new therapeutic approaches in some cases of autism.
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Wu, Shanshan, Jiali Fan, Fajuan Tang, et al. "The role of RIM in neurotransmitter release: promotion of synaptic vesicle docking, priming, and fusion." Frontiers in Neuroscience 17 (April 26, 2023). http://dx.doi.org/10.3389/fnins.2023.1123561.
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There are many special sites at the end of a synapse called active zones (AZs). Synaptic vesicles (SVs) fuse with presynaptic membranes at these sites, and this fusion is an important step in neurotransmitter release. The cytomatrix in the active zone (CAZ) is made up of proteins such as the regulating synaptic membrane exocytosis protein (RIM), RIM-binding proteins (RIM-BPs), ELKS/CAST, Bassoon/Piccolo, Liprin-α, and Munc13-1. RIM is a scaffold protein that interacts with CAZ proteins and presynaptic functional components to affect the docking, priming, and fusion of SVs. RIM is believed to play an important role in regulating the release of neurotransmitters (NTs). In addition, abnormal expression of RIM has been detected in many diseases, such as retinal diseases, Asperger’s syndrome (AS), and degenerative scoliosis. Therefore, we believe that studying the molecular structure of RIM and its role in neurotransmitter release will help to clarify the molecular mechanism of neurotransmitter release and identify targets for the diagnosis and treatment of the aforementioned diseases.
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Bi, Xia-an, Hao Wu, Xi Hu, Yu Fu, and Shaoliang Peng. "Clustering-Evolutionary Random Support Vector Machine Ensemble for fMRI-Based Asperger Syndrome Diagnosis." Computer Journal, May 9, 2020. http://dx.doi.org/10.1093/comjnl/bxaa023.
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Abstract It is a hot spot in the field of computer application to diagnose complex brain diseases such as Asperger syndrome (AS) using machine learning technology. To identify AS patients and detect lesions, this paper proposes a novel clustering-evolutionary random support vector machine (SVM) ensemble (CERSVME) based on graph theory. Firstly, we extract graph theory indexes from the resting-state functional magnetic resonance imaging (fMRI) data as sample features and construct an ensemble learner by integrating multiple SVM classifiers. Secondly, the base learners with high redundancy and poor classification ability are deleted through clustering evolutions to improve the performance of the model. Then the CERSVME model is used to classify fMRI image of AS patients and healthy controls. According to the classification results, a multi-stage analysis scheme is designed to find the AS-related brain areas. We validate the proposed approach on 135 participants from autism brain imaging data exchange cohort. The highest accuracy reported by the CERSVME reaches 95.24%. More importantly, the diseased brain areas such as middle frontal gyrus, hippocampus and precuneus are found based on their contributions to classification performances of the CERSVME. Our study provides useful assistances for the clinical detection of patients with AS.
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Shaffer, Scott, and Joaquin Fuentes. "On or Off the “Spectrum”? The Complexity of Screening and Diagnosing Autism Spectrum Disorder (ASD)." JAACAP Connect 1, no. 2 (2014). http://dx.doi.org/10.62414/001c.92669.
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Recent estimates by the Centers for Disease Control (CDC) have suggested that 1 in 68 children are diagnosed with an autism spectrum disorder (ASD).1 As the number of children diagnosed has risen steadily over the past decades, there has been an understandable surge of interest in the condition amongst health care professionals, teachers, the general public, and certainly amongst parents and advocates. Moreover, the DSM-5 issued a new set of diagnostic criteria that combined several DSM-IV-TR diagnoses, including autistic disorder, pervasive developmental disorder not otherwise specified (NOS), and Asperger’s Disorder into the new, singular diagnosis of autism spectrum disorder (ASD). The DSM-5 defines ASD as a neurodevelopmental condition characterized by impairments in social communication and interaction, as well as “restricted and repetitive patterns of behavior.”2 Child and adolescent psychiatrists, along with their colleagues in pediatrics, neurology, and psychology, are now being asked more and more questions about how to screen for and identify children who may be “on the spectrum.”
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Nguyen, Phuong Thi Hang. "Application of Dohsa-hou Therapy to Develop Social Interaction Skills in Autistic Vietnamese Children." STUDIES ON ETHNO-MEDICINE 16, no. 1-2 (2022). http://dx.doi.org/10.31901/24566772.2022/16.1-2.642.
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ABSTRACT Children with developmental problems such as autism, Asperger’s syndrome, Rett syndrome, language, cognition, and behaviour issues are referred to as “developmental diseases”. To support and educate children with developmental disorders and autism, a variety of methods are available, including ABA (Applied Behaviour Analysis), RDI (Relationship Development Intervention), TEACCH (Division for the Treatment and Education of Autistic and Children with Communication Handicaps), and PECS (Patient-Centred Early Childhood Services). When it comes to supporting youngsters in Da Nang, Vietnam, the researchers have chosen Dohsa-hou therapy (Japan), which has shown promising outcomes. In addition to assisting children in being safe and courteous, the Dohsa-hou approach also assists both children and teachers (Dohsa-hou practitioners) feel genuinely calm. Case study, observation, and assessment by a group of three special exercises before and after Dohsa-hou therapy were used to demonstrate that this is an effective way for assisting children with developmental difficulties in Vietnam