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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Repetitive and stereotyped behaviours in the form of stereotyped interests or specific routine activities are one ofthe diagnostic criteria in pervasive developmental disorders. The occurrence of repetitive behaviours in patients with pervasive developmental disorders is a starting point for questions about the type and classification criteria of such behaviours. The aim of the article is to present case studies of patients with pervasive developmental disorders and co-morbid symptoms in the form of routine activities, tics, obsessive-compulsive symptoms or stereotyped behaviours. The first case study describes a patient with Asperger's syndrome and obsessive compulsive symptoms. The diagnostic problems regarding complex motor tics are discussed in the second case study which describes a patient with Asperger's syndrome and Gilles de la Tourette syndrome. The third and fourth case study describes mono-zygotic twins with so called High Functioning Autism whose repetitive activities point to either obsessive compulsive symptoms, stereotypic movements, need for absolute consistency or echopraxia. The possible comorbidity of pervasive developmental disorders and symptoms in the form of repetitive behaviours, possible interactions as well as diagnostic challenges is discussed in the article.
Psychiatr Pol
PMID:[Obsessive-compulsive symptoms, tics, stereotypic movements or need for absolute consistency? The occurrence of repetitive activities in patients with pervasive developmental disorders--case studies]. 2222 Apr 92

Childhood autism belongs to pervasive developmental disorders and is characterised by qualitative abnormalities in reciprocal social interactions, communication, and by restricted, repetitive interests and behaviours. Until now there was no standardised tool for a diagnosis of autism in Poland. The paper presents the Polish version of the Autism Diagnostic Interview - Revised (ADI-R), which is the "gold standard" for the diagnosis of autism in Europe, United States and Australia. It describes the translation process and adaptation of the original version into Polish, as well as differences between the two versions. ADI-R is a complex, standardised, semi-structured investigator-based interview for parent or caregiver of person with autism, linked to ICD-10 and DSM-IV-TR criteria and appropriate for both adults and children, who have the minimum mental age of 24 months. Moreover ADI-R consists of, beside diagnostic algorithms, the current behaviour algorithms, which enable to assess and compare various levels of functioning during planning and implementation of treatment and therapy. ADI-R is also a very useful tool in the diagnosis for scientific purposes due to its standardisation.
Psychiatr Pol
PMID:[Polish version of the ADI-R (Autism Diagnostic Interview-Revised)]. 2321 95

The article presents the Polish version of the autism diagnostic observation schedule-generic (ADOS), which together with the autism diagnostic interview-revised (ADI-R) is cited as the "gold standard" for the diagnosis of autism. The ADOS is a standardised, semistructured observation protocol appropriate for children and adults of differing age and language levels. It is linked to ICD-10 and DSM-IV-TR criteria. The ADOS consists of four modules, ranging from module 1 for nonverbal individuals to module 4 for verbally fluent adults. The adequate inter-rater reliability for items has been established. The protocol has high discriminant validity and distinguishes children with pervasive developmental disorders from children, who are outside of the spectrum. Although it does not enable to distinguish individuals with pervasive developmental disorder, unspecified from individuals with childhood autism. The paper presents subsequent steps of the translation process of the original version into Polish, as well as a chosen adaptation strategy of the Polish version. The ADOS is a very useful tool both for clinical diagnosis and for the scientific purpose diagnosis. In this last case it is extremely important to use a standardised method. Until now, there was no standardised diagnostic tool for autism in Poland.
Psychiatr Pol
PMID:[Polish version of the ADOS (autism diagnostic observation schedule-generic)]. 2339 18

Although the aetiology of autistic-spectrum disorder (ASD) remains unclear, great advances have been made to clarify the underlying neuroanatomical abnormalities and brain-behaviour relationships in autism. There is variability in the literature on structural neuroimaging findings in ASD. Early brain overgrowth is probably the most replicated finding in this subgroup. Additionally some specific brain regions are particularly implicated, including the frontal, limbic, basal ganglia and cerebellar regions. There is also evidence of volume abnormalities in both grey and white matter. New techniques, such as cortical-thickness measurements, surface morphometry and diffusion tensor imaging help to understand in more detail the patterns of abnormalities. More work is required, involving the use of large and homogeneous samples, to investigate the neuroanatomical determinants and their role in aetiology of ASD. The goal of this review is to summarise the available structural neuroimaging data and examine their implication for understanding of the neurobiology of ASD.
Psychiatr Pol
PMID:[Seeking the aetiology of autistic spectrum disorder. Part 1: Structural neuroimaging]. 2347 46

Oxytocin and vasopressin, "peptides of love and fear", except for their classic role in control of labor and breastfeeding and blood pressure regulation, are also implicated in various processes like sexual behaviours, social recognition and stress response. These hormones seems to be essential for appropriate and beneficial social interactions, play a very important role in maternal care and closeness, promote general trust and cooperation and prolong social memory. They also play a very important role in modulating fear and anxiety response, especially by regulating the hypothalamic-pituitary-adrenal axis and amygdala activity by its projections to the brain stem and hypothalamic structures. Both hormones, particularly oxytocin, appears to be activating sexual behaviour or is responsible for increased sexual arousal. Evidence from clinical trials suggests their potential role in pathogenesis of schizophrenia, depression, autism and addiction together with possible therapeutic use in the above conditions. In schizophrenia, patients with higher peripheral oxytocin levels showed less severe positive, general and social symptoms and better prosocial behaviours. Literature suggests that exogenous oxytocin may be effective as an adjunctive therapy for that illness. Some data suggest that naturally occurring autoantibodies reacting with oxytocin and vasopressin are involved in depression, eating disorders and conduct disorder genesis.
Psychiatr Pol
PMID:[The role of oxytocin and vasopressin in central nervous system activity and mental disorders]. 2347 45

Multiple functional imaging techniques help to a better understanding of the neurobiological basis of autism-spectrum disorders (ASD). The early functional imaging studies on ASD focused on task-specific methods related to core symptom domains and explored patterns of activation in response to face processing, theory of mind tasks, language processing and executive function tasks. On the other hand, fMRI research in ASD focused on the development of functional connectivity methods and has provided evidence of alterations in cortical connectivity in ASD and establish autism as a disorder of under-connectivity among the brain regions participating in cortical networks. This atypical functional connectivity in ASD results in inefficiency and poor integration of processing in network connections to achieve task performance. The goal of this review is to summarise the actual neuroimaging functional data and examine their implication for understanding of the neurobiology of ASD.
Psychiatr Pol
PMID:[Seeking the aetiology of autistic spectrum disorder. Part 2: Functional neuroimaging]. 2347 47

Homocysteine is an amino acid, which plays several important roles in human physiology. A wide range of disorders, including neuropsychiatric disorders and autism, are associated with increased homocysteine levels in biological fluids. Various B vitamins: B6 (pyridoxine), B12 (cobalamin), and B9 (folic acid) are required as co-factors by the enzymes involved in homocysteine metabolism. Therefore, monitoring of homocysteine levels in body fluids of autistic children can provide information on genetic and physiological diseases, improper lifestyle (including dietary habits), as well as a variety of pathological conditions. This review presents information on homocysteine metabolism, determination of homocysteine in biological fluids, and shows abnormalities in the levels of homocysteine in the body fluids of autistic children.
Acta Biochim Pol 2013
PMID:A focus on homocysteine in autism. 2374 16

Infantile autism is a neurodevelopmental disorder characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. The etiopathogenetic processes of autism are extremely complex, which is reflected in the varying course and its symptomatology. Trajectories of brain development and volumes of its structures are aberrant in autistic patients. It is suggested that disturbances in sertotoninergic, gabaergic, glutaminergic, cholinergic and dopaminergic neurotransmission can be responsible for symptoms of autism as well as can disturb the development of the young brain. The objective of this article is to present the results of reasearch on neuroanatomical, neurochemical and genetic aspects of autism.
Psychiatr Pol
PMID:[Neuroanatomical, genetic and neurochemical aspects of infantile autism]. 2500 41

Explanation of the genetic basis of autism spectrum disorders has, for many decades, been a part of interest of researchers and clinicians. In recent years, thanks to modern molecular and cytogenetic techniques, a significant progress has been achieved in the diagnosis of genetic causes of autism. This applies particularly, but not exclusively, to those cases of autism that are accompanied by other clinical signs (i. e. complex phenotypes). The important clinical markers belong to different categories, and include congenital defects/anomalies, dysmorphism and macro-/microcephaly, to name the few. Thus, the choice of the diagnostic strategy depends on the clinical and pedigree information and, under Polish circumstances, the availability of specific diagnostic techniques and the amount of reimbursement under the National Health Service. Overall, the identification of the genetic causes of autism spectrum disorders is possible in about 10-30% of patients. In this paper the practical aspects of the use of different diagnostic techniques are briefly described. Some clinical examples and current recommendations for the diagnosis of patients with autism spectrum disorders are also presented. The point of view of a specialist in clinical genetics, increasingly involved, as part of the multidisciplinary care team, in the diagnostics of an autistic child has been demonstrated.
Psychiatr Pol
PMID:[Diagnostics of the genetic causes of autism spectrum disorders - a clinical geneticist's view]. 2531 96

Autism, also known as autism spectrum disorders (ASD), is etiologically and clinically heterogeneous group ofneurodevelopmental disabilities. ASD affects 1% of child's population. The sex difference is observed with 4:1 male to female ratio. This is descriptive diagnosis based on observation and analysis of behavior and cognitive functions. ASD does not fit the criteria of known patterns of inheritance. For the majority of patients polygenic model of inheritance with many interacting genes is the most probable. The etiology ofASD is poorly understood. It is estimated that a specific genetic etiology can be determined in up to 20% of individuals with ASD. Advances in microarray technology and next generation sequencing are revealing copy variant numbers (CNV) and single nucleotides polymorphisms (SNP) with important roles in synapse formation and function. For families where a specific etiology has been identified, the risk of recurrence in siblings generally depends on the etiologic diagnosis. For autism of unknown cause, the sibling risk varies across studies but is generally considered to range from 5 to 10%.
Psychiatr Pol
PMID:[Molecular aspects of autism spectrum disorders]. 2531 97


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