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Query: UMLS:C0004352 (autism)
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The aim of this paper is to share the clinical experience of the treatment of aripiprazole (Abilify) in children and adolescents. The authors have done a cross-sectional study about Abilify's treatment in children and adolescents with severe conduct problems (high impulsivity, aggression, outward reaction, physical cross-border behavior), high restlessness with ADHD, psychotic and psychosis-like symptoms with autistic disorders, psychosis, and intensive tics with Tourette's syndrome. The authors studied and described patients at the Child and Adolescent Psychiatric Clinic 1 in Roskilde, Denmark, who were treated with Abilify and were patients of the clinic in June 2013. The target group consisted of 33 patients, aged 9-18 years, which were in Abilify treatment during this time. Indications for the treatment and effectiveness of Abilify, Abilify's common doses used in children and adolescents, and the most common adverse effects of Abilify are presented. Abilify was found to be effective, well tolerated and safe for children and adolescents. The dose depends on the complexity of diagnosis (higher doses used in cases of complex diagnosis), on the age (higher doses used in older children, but only in the case of noncomplex diagnoses). Statistical analysis shows that in cases of complex diagnoses, dosage does not depend on age but depends on other factors. It also shows that the effect of treatment is better for those who did not gain weight.
Acta Pol Pharm
PMID:CLINICAL EXPERIENCE OF LONG-TERM TREATMENT WITH ARIPIPRAZOLE (ABILIFY) IN CHILDREN AND ADOLESCENTS AT THE CHILD AND ADOLESCENT PSYCHIATRIC CLINIC 1 IN ROSKILDE, DENMARK. 2664 68

Repetitive transcranial magnetic stimulation (rTMS) is a treatment option with proved effectiveness especially in drug resist depression. It is used in functional brain mapping before neurosurgery operations and diagnostic of corticospinal tract transmission. Many studies are performed to evaluate rTMS using in treatment of obsessive - compulsive disorder, schizophrenia, autism, strokes, tinnitus, Alzheimer and Parkinson diseases, cranial traumas. Moreover rTMS was used in treatment of multiple sclerosis, migraine, dystonia. Electromagnetical field generated by rTMS penetrate skin of the scalp and infiltrate brain tissues to a depth of 2 cm, cause neurons depolarization and generating motor, cognitive and affective effects. Depending on the stimulation frequency rTMS can stimuli or inhibit brain cortex. rTMS mechanism of action remains elusive. Probably it is connected with enhancement of neurotransmitters, modulation of signals transductions pathways in Central Nervous System, gene transcription and release of neuroprotective substances. Studies with use of animals revealed that rTMS stimulation can generate brain changes similar to those seen after electric shock therapy without provoking seizures. The aim of presenting study was to analyze actual researches evaluating rTMS use in treatment of psychiatric and neurological diseases.
Pol Merkur Lekarski 2016 Jun
PMID:[Evaluation of repetitive transcranial magnetic stimulation effectiveness in treatment of psychiatric and neurologic diseases]. 2740 8

Autism spectrum disorders (ASD) are caused by disruptions in early stages of central nervous system development and are usually diagnosed in first years of life. Despite common features such as impairment of socio-communicative development and stereotypical behaviours, ASD are characterised by heterogeneous course and clinical picture. The most important aetiological factors comprise genetic and environmental influences acting at prenatal, perinatal and neonatal period. The role of rare variants with large effect i.e. copy number variants in genes regulating synapse formation and intrasynaptic connections is emphasised. Common variants with small effect may also be involved, i.e. polymorphisms in genes encoding prosocial peptides system - oxytocin and vasopressin. The environmental factors may include harmful effects acting during pregnancy and labour, however their specificity until now is not confirmed, and in some of them a primary genetic origin cannot be excluded. In several instances, especially with comorbid disorders - intellectual disability, epilepsy and dysmorphias - a detailed molecular diagnostics is warranted, which currently may elucidate the genetic background of disorder in about 20% of cases.
Psychiatr Pol 2016
PMID:The role of genetic factors and pre- and perinatal influences in the etiology of autism spectrum disorders - indications for genetic referral. 2755 13

This paper presents the general characteristics of the phenomenon of autobiographical memory (AM), the current knowledge of the subject and describes hitherto identified distortions of AM in mental disorders.AM is the part of memory concerning the personal past of an individual. It includes episodic and semantic memories associated with an identity. It affects an activity and structuring of goals, it is set in human experience and emotions and it helps in creating plans. The evolutionary sig-nificance of AM is probably to facilitate short-term goal-oriented behaviors by comparing them with the previous ones. People with AM disorders often have difficulties in social functioning.The disorders of emotional life and affect, which are present in most psychiatric disorders, deform AM. It was confirmed, inter alia, in post-traumatic stress disorder, depression, autism, schizophrenia, and alcohol dependence syndrome. Overgeneral memories (the inability to recall memories that are fully filled with details) being typical of depression, and flashbacks (the involuntary recall of memories which are highly filled with visual-sensory content) being characteristic of PTSD are considered one of the most studied deficiency of AM. The study of AM potentially carries many cognitive and clinical implications. It may facilitate the prediction of the onset of a depressive episode in patients at risk; it can also help to develop psychotherapeutic techniques which are helpful in its treatment, which has in part already taken place. Few studies relate to neurofunctional changes in AM and they need a follow-up.
Psychiatr Pol 2016 Oct 31
PMID:Autobiographical memory and its meaning in selected mental disorders. 2799 89

Visual impairment present from birth or from an early childhood may lead to psychosocial and emotional disorders. 11-40% of children in the group with visual impairment show traits of autism. The aim of this paper was to present the selected examples of how visual impairment in children is related to the occurrence of autism and to describe the available tools for diagnosing autism in children with visual impairment. So far the relation between visual impairment in children and autism has not been sufficiently confirmed. Psychiatric and psychological diagnosis of children with visual impairment has some difficulties in differentiating between "blindism" and traits typical for autism resulting from a lack of standardized diagnostic tools used to diagnosing children with visual impairment. Another difficulty in diagnosing autism in children with visual impairment is the coexistence of other disabilities in case of most children with vision impairment. Additionally, apart from difficulties in diagnosing autistic disorders in children with eye dysfunctions there is also a question of what tools should be used in therapy and rehabilitation of patients.
Psychiatr Pol 2017 Apr 30
PMID:Visual impairment and traits of autism in children. 2858 42

The paper reports on a case of 57-year man with autism spectrum disorder and epilepsy with an unusual feature of calendar calculation. Namely, this is the case of savant syndrome, which appears rarely in the course of various neuropsychiatric disorders. Commorbidity of epilepsy and autism particularly predispose to the aforementioned syndrome. In the presented case, apart from the calendar calculation, the man has high language abilities. As previous studies suggest, the extraordinary abilities among persons with savant syndrome works similarly to the language module in healthy persons. Savant syndrome may appear in any patient with neuropsychiatric disorders, particularly in those suffering from autism spectrum disorder with comorbid epilepsy.
Pol Merkur Lekarski 2017 Jul 21
PMID:[The case of an adult man with savant syndrome in the course of autism spectrum disorder]. 2880 99

Genetic variants associated with autism spectrum disorders (ASDs) are enriched in genes encoding synaptic proteins and chromatin regulators. Although the role of synaptic proteins in ASDs is widely studied, the mechanism by which chromatin regulators contribute to ASD risk remains poorly understood. Upon profiling and analyzing the transcriptional and epigenomic features of genes expressed in the cortex, we uncovered a unique set of long genes that contain broad enhancer-like chromatin domains (BELDs) spanning across their entire gene bodies. Analyses of these BELD genes show that they are highly transcribed with frequent RNA polymerase II (Pol II) initiation and low Pol II pausing, and they exhibit frequent chromatin-chromatin interactions within their gene bodies. These BELD features are conserved from rodents to humans, are enriched in genes involved in synaptic function, and appear post-natally concomitant with synapse development. Importantly, we find that BELD genes are highly implicated in neurodevelopmental disorders, particularly ASDs, and that their expression is preferentially down-regulated in individuals with idiopathic autism. Finally, we find that the transcription of BELD genes is particularly sensitive to alternations in ASD-associated chromatin regulators. These findings suggest that the epigenomic regulation of BELD genes is important for post-natal cortical development and lend support to a model by which mutations in chromatin regulators causally contribute to ASDs by preferentially impairing BELD gene transcription.
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PMID:Long genes linked to autism spectrum disorders harbor broad enhancer-like chromatin domains. 2984 92

According to the latest theories explaining the pathomechanism and course of autism spectrum disorder (ASD), this disorder is characterized by abnormalities in the development of neurocognitive processes, such as executive functions, "theory of mind", cognitive style, or sensory integration processes. The structure of these processes is not homogenous, which has implications for measurement methodology. The type of indicators of the course and development level of neurocognitive processes analyzed by a researcher entails the need to choose an appropriate measurement tool. The behavioral indicators (verbal and nonverbal behavior of the participants) are measured with the use of observation sheets. On the other hand, the neurophysiological indicators are measured with the use of high-technology equipment, such as: computed tomography (CT), functional magnetic resonance imaging (fMRI), or eye tracker. By systematizing the tools most often used by researchers to measure sensory integration processes, the level of development of "theory of mind" and empathizing skills, as well as autism severity in individuals with ASD, the article reveals the relationship between the formulated hypothesis and the type of measured indicators of the abovementioned variables. It therefore suggests that a project of research should be set by the investigator within a methodological approach that is relevant for the verification of the formulated hypothesis.
Psychiatr Pol 2018 Aug 24
PMID:Measurement tools of autism syndrome severity and selected neurocognitive processes in individuals with ASD. 3036 34

Girls and women with autism are often undiagnosed, misdiagnosed or receive a diagnosis of autism at later age. This can result in adverse outcomes in their well-being, mental health, education, employment, and independence. The diagnosis of autism spectrum condition/disorder (hereinafter referred to as autism), with its current features linked with descriptions in the major diagnostic classification systems, is based primarily on observations and research on males. The term 'Autism Spectrum Condition' (ASC), used in this paper, has been coined by Simon Baron-Cohen and used in the professional literature for a decade to respect these individuals on the autism spectrum who feel that the term 'disorder'is stigmatizing, whereas ASC presents both the strengths of these people and difficulties they experience. The research shows that autism in females has unique symptomatology and manifests itself differently, more subtly, especially in high-functioning girls and women, i.e., those with fluent speech, average or above-average intelligence quotient. The research also shows diagnostic stereotypes and lack of required sensitivity to identify autistic females. Additionally they do not reflect the unique presentation of autism in females demonstrated by greater compensatory capacity and an ability to develop sophisticated methods of 'camouflaging'and masquerading. Furthermore, autism in females is associated with high comorbidity during adolescence including anxiety disorder, tic disorder, depression, high incidence of suicide, eating disorders, and high rates of other medical problems. Timely diagnosis, however, can reduce the difficulties that females with autism experience over their lifetime, allowing for the assessment of their needs regarding health, education, leisure, social relationships, and employment.
Psychiatr Pol 2019 Aug 31
PMID:Girls and women with autism. 3176 Apr 7

Autism spectrum disorder (ASD) as a serious neurodevelopmental condition requires intensive and comprehensive interventions, particularly interventions found to be effective through rigorous research. The National Professional Development Center on Autism Spectrum Disorders (NPDC) was formed in the USAin order to conduct a comprehensive review of ASD-related evidence-based practices (EBPs) and to create amodelof implementing such practices for children, adolescents and young adults (from preschool to high school education level). The NPDC final review, being the most comprehensive to date (the initial search included 29,105 articles) identified 27 ASD-focused EBPs. In addition to the resulting matrix of the autism-related EBPs, and the e-learning moduleson the identified interventions, the NPDC model includes as well the Autism Program Environment Rating Scale (APERS) for external evaluation and self-assessment, goal attainment scaling (GAS) and coaching program manual. To date, the model has been implemented in 12 states in the USAand is being introduced in several other countries including Australia, Sweden, Saudi Arabia, and Poland. The purpose of this article is to present the NPDC model and its components, along with the relevant research.
Psychiatr Pol 2019 Aug 31
PMID:National Professional Development Center on Autism Spectrum Disorders (NPDC) model - an integrated model of evidence-based practices for autism spectrum disorder. 3176 Apr 8


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