Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Although autism existed before 1943, it was Leo Kanner who is credited with the first detailed description of autistic behavior. Before Kanner's report, the behavior was generally known as childhood schizophrenia. He noted that the outstanding common feature of all the children was certain parental personalities, like obsessiveness and lack of warm-heartedness. Concurrent with Kanner's report and observations were those of Asperger in 1944. However, Asperger's report, in a German-language journal, was not brought to the forefront until the 1980s. The children described by Asperger had milder forms of behavior disorders than those described by Kanner, with the resulting diagnosis of autism broadened and blurred. The main features of the new autistic spectrum included a triad of developmental deficiencies: recognition, communication, and understanding. Regardless of whose research is read, autistic behavior is considered peculiar and difficult to treat. Early treatments included LSD, tranquilizers, and developmental remediation. A later treatment, which proved to be the most successful, is applied behavior analysis (ABA), an outgrowth of B.F. Skinner's conditioning research. The etiology of autism remains a puzzle to scientists, with the most likely hypothesis being a central nervous system dysfunction. With regard to vision, people with autism tend to have abnormal electroretinograms, deficient evoked visual potentials, and atypical opticokinetic nystagmus. Other than a higher than expected incidence of strabismus and oculomotor deficiencies, refractive and binocular vision status of people with autism have been reported to be within normal ranges. Accordingly, the most useful tests for a patient with the diagnosis of autism are those for oculomotor function, opticokinetic nystagmus, and strabismus. The optometrist, thereby, becomes a member of the team helping to diagnose and treat the visual sequelae of autism.
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PMID:Background and history of autism in relation to vision care. 1892 90

Several studies suggest involvement of serotoninergic system in the pathophysiology of Autism Spectrum Disorder (ASD). The 5-HT receptor binding studies using (3)H-lysergic acid diethylamide ((3)H-LSD) and linkage analysis provided evidences to consider HTR2A as a potential candidate gene for ASD. The three SNPs, -1438A/G (rs6311), 102T/C (rs6313) and 1354C/T (rs6314) of HTR2A have been well studied in the etiology of various neuropsychiatric disorders. But studies on association of this gene with ASD are limited to two reports from American and Korean populations. Additionally there are reports, which demonstrated paternal imprinting of HTR2A with expression from only one allele. So far no reports are available on HTR2A and its association with any neuropsychiatric disorders from Indian population. Therefore, the present study investigates association of the above mentioned three markers of HTR2A with ASD in Indian population using population and family-based approaches. The study also deals with allelic expression pattern of HTR2A in Peripheral Blood Leukocytes (PBLs) to understand the parental imprinting status. The genotyping analyses were carried out for probands, parents and controls. The subsequent association analyses did not show association of these markers with ASD. So, HTR2A is unlikely to be a genetic marker for ASD in Indian population. The expression analyses showed absence of monoallelic expression, suggesting lack of parental imprinting of HTR2A gene. However, we noticed methylation of the CpG sites at -1438A/G and 102T/C loci of HTR2A gene. Further bioinformatics analysis revealed absence of CpG islands in the promoter of the gene supporting biallelic expression pattern of HTR2A in PBLs.
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PMID:Analysis of serotonin receptor 2A gene (HTR2A): association study with autism spectrum disorder in the Indian population and investigation of the gene expression in peripheral blood leukocytes. 1964 26

Though synesthesia research has seen a huge growth in recent decades, and tremendous progress has been made in terms of understanding the mechanism and cause of synesthesia, we are still left mostly in the dark when it comes to the mechanistic commonalities (if any) among developmental, acquired and drug-induced synesthesia. We know that many forms of synesthesia involve aberrant structural or functional brain connectivity. Proposed mechanisms include direct projection and disinhibited feedback mechanisms, in which information from two otherwise structurally or functionally separate brain regions mix. We also know that synesthesia sometimes runs in families. However, it is unclear what causes its onset. Studies of psychedelic drugs, such as psilocybin, LSD and mescaline, reveal that exposure to these drugs can induce synesthesia. One neurotransmitter suspected to be central to the perceptual changes is serotonin. Excessive serotonin in the brain may cause many of the characteristics of psychedelic intoxication. Excessive serotonin levels may also play a role in synesthesia acquired after brain injury. In brain injury sudden cell death floods local brain regions with serotonin and glutamate. This neurotransmitter flooding could perhaps result in unusual feature binding. Finally, developmental synesthesia that occurs in individuals with autism may be a result of alterations in the serotonergic system, leading to a blockage of regular gating mechanisms. I conclude on these grounds that one commonality among at least some cases of acquired, developmental and drug-induced synesthesia may be the presence of excessive levels of serotonin, which increases the excitability and connectedness of sensory brain regions.
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PMID:Serotonergic hyperactivity as a potential factor in developmental, acquired and drug-induced synesthesia. 2415 3