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

Responses to vestibular stimulation can, under well-controlled experimental conditions, provide a measure of brain-stem function. Autistic children had significantly longer time constants during the primary nystagmus response and significantly fewer beats during the secondary response than normal children when stimulated with constant angular acceleration in complete darkness. These findings could not be attributed to gross differences in arousal, to developmental retardation, to associated clinical conditions, or to either the influence of vision or habituation. Rather, they are suggestive of a neurophysiologic dysfunction, perhaps involving the brain stem, and may be an expression of the process that underlies those autistic behaviors that suggest faulty modulation of sensory input and motor output. Brain-stem centers modulate both general sensory input and motor excitation and may play a role in the elaboration of the more complex adaptive and motivated behaviors that are also disturbed in autism.
Arch Gen Psychiatry 1985 Oct
PMID:Brain-stem dysfunction in autism. Results of vestibular stimulation. 403 85

Infantile autism and schizophrenia have been regarded as unrelated and distinct disorders. There is, however, some evidence in the literature that supports a relationship between the two disorders in that there may be a subgroup of autistic children in whom schizophrenia develops. The diagnostic criteria used in the literature to describe infantile autism and schizophrenia in childhood has not been uniform. The three cases in this report, diagnosed on the basis of current criteria and detailed clinical descriptions, clearly point to an initial diagnosis of infantile autism followed by the development of schizophrenia.
Arch Gen Psychiatry 1984 Feb
PMID:Autistic children who become schizophrenic. 669 93

The right shift (RS) theory (Annett, M., 1972. The distribution of manual asymmetry. Br. J. Psychol. 63, 343-358; Annett, M., 1985. Left, Right, Hand and Brain: The Right Shift Theory. Lawrence Erlbaum, London) suggests that the typical pattern of human cerebral and manual asymmetries depends on a single gene (RS+) which impairs speech-related cortex of the right hemisphere. The theory offers solutions to several puzzles, including the distribution of handedness in families (Annett, M., 1978. A Single Gene Explanation of Right and Left Handedness and Brainedness. Lanchester Polytechnic, Coventry; Annett, M., 1996. In defense of the right shift theory. Percept. Motor Skills 82, 115-137), relations between handedness and cerebral speech laterality (Annett, M., 1975. Hand preference and the laterality of cerebral speech. Cortex 11, 305-328; Annett, M., Alexander, M.P., 1996. Atypical cerebral dominance: predictions and tests of the right shift theory. Neuropsychologia 34, 1215-1227) and handedness and dyslexia (Annett, M. et al., 1996. Types of dyslexia and the shift to dextrality. J. Child Psychol. Psychiatry 37, 167-180). If Crow's (Crow, T.J. et al., 1989. Schizophrenia as an anomaly of development of cerebral asymmetry. A postmortem study and a proposal concerning the genetic basis of the disease. Arch. Gen. Psychiatry 46, 1145-1150; Crow, T.J., 1997. Is schizophrenia the price that Homo sapiens pays for language? Schizophr. Res. 28, 127-141) theory that schizophrenia is due to an anomaly of cerebral dominance is correct, and if the RS theory is correct, schizophrenia could be due to an anomaly of the RS+ gene. If the RS+ gene were at risk for a mutation which caused a loss of directional coding, the mutant could be described as 'agnosic' for left and right. Such a gene would impair either hemisphere at random. When paired with another RS+ gene, both hemispheres would be impaired in 50% of cases. The other 50% and people in whom the agnosic gene is paired with an RS-allele (neutral for asymmetry and not giving hemisphere impairment) would have one unaffected hemisphere and, thus, normal development. Quantitative predictions based on the RS genetic theory as previously developed, plus an agnosic mutant with frequency required to give schizophrenia in 1% of the population, are consistent with estimates of concordance for schizophrenia in relatives. Homozygotes of the agnosic mutant would occur at about the rate estimated for autism.
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PMID:The theory of an agnosic right shift gene in schizophrenia and autism. 1050 10

Trinucleotide, or triplet, repeats consist of 3 nucleotides consecutively repeated (e.g., CCG CCG CCG CCG CCG) within a region of DNA, a not uncommon motif in the genome of humans and other species. In 1991, a new type of genetic mutation was discovered, known as a dynamic or expansion mutation, in which the number of triplets in a repeat increases and the length becomes unstable. During the past decade, nearly 20 diseases-including Huntington disease, 2 forms of the fragile X syndrome, and myotonic dystrophy-caused by trinucleotide repeat expansions have been identified. The unstable nature of the expanded repeat leads to remarkable patterns of inheritance in these diseases, distinctly at odds with traditional notions of mendelian genetics. We review the clinical and genetic features of these disorders, with a particular emphasis on their psychiatric manifestations. We also critically examine the hypothesis that expansion mutations may have an etiologic role in psychiatric diseases such as bipolar disorder, schizophrenia, and autism.
Arch Gen Psychiatry 1999 Nov
PMID:Trinucleotide repeat expansion and neuropsychiatric disease. 1056 2

Many different microbial factors seem to contribute to the pathogenesis of schizophrenic and other psychiatric disorders. Activation of all T lymphocytes reactivates those downregulated by low-grade chronic infections and restores equilibrium in immune cell subpopulations. Different immune cell subpopulations express different neurotrophin receptors and produce different cytokines, particularly brain-derived neurotrophin (BDNF) and neurotrophin 3 (NT3) [M. Besser, R. Wank, J. Immunol. 162 (1998) 6303-6306] that appear to play a key role in schizophrenic and bipolar disorders [E. Jonsson, S. Brene, X.R. Zhang, et al., Acta Psychiatr. Scand. 95 (1997) 414-419; R.S. Duman, Arch. Gen. Psychiatry 54 (1997) 597-606; J.A. Siuciak, D.R. Lewis, S.J. Wiegand, R.M. Lindsay, Pharmacol. Biochem. Be 56 (1997) 131-137]. The hypothesis that adoptive immunotherapy is effective in psychiatric disorders will be supported by three case reports, in a patient with bipolar disorder, a patient with schizophrenia, and a patient with autism.
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PMID:Schizophrenia and other mental disorders require long-term adoptive immunotherapy. 1220 1

Patients with adult autism spectrum disorder (ASD) continue to suffer from impairment in socialization and communication skills, and a proportion of them may develop psychiatric symptoms. It is thus likely that physicians in adult psychiatric departments may see a number of patients with ASD. Identification of patients with ASD is helpful and important for rehabilitation. This study estimated the prevalence of ASD among adult psychiatric outpatients in a Taiwanese medical center. A total of 660 patients were screened with Nylander and Gillberg's "Autism Spectrum Disorder in Adult Screening Questionnaire." Patients with high scores then underwent a diagnostic clinical interview conducted by child psychiatrists. Four patients (0.6%) were found to have ASD.
Gen Hosp Psychiatry
PMID:Screening for autism spectrum disorder in adult psychiatric outpatients in a clinic in Taiwan. 1285 Jun 61

Prior imaging studies have failed to show activation of the fusiform gyrus in response to emotionally neutral faces in individuals with autism spectrum disorder (ASD) [Critchley et al., Brain 124 (2001) 2059; Schultz et al., Arch. Gen. Psychiatry 57 (2000) 331]. However, individuals with ASD do not typically exhibit the striking behavioral deficits that might be expected to result from fusiform gyrus damage, such as those seen in prosopagnosia, and their deficits appear to extend well beyond face identification to include a wide range of impairments in social perceptual processing. In this study, our goal was to further assess the question of whether individuals with ASD have abnormal fusiform gyrus activation to faces. We used high-field (3 T) functional magnetic resonance imaging to study face perception in 11 adult individuals with autism spectrum disorder (ASD) and 10 normal controls. We used face stimuli, object stimuli, and sensory control stimuli (Fourier scrambled versions of the face and object stimuli) containing a fixation point in the center to ensure that participants were looking at and attending to the images as they were presented. We found that individuals with ASD activated the fusiform face area and other brain areas normally involved in face processing when they viewed faces as compared to non-face stimuli. These data indicate that the face-processing deficits encountered in ASD are not due to a simple dysfunction of the fusiform area, but to more complex anomalies in the distributed network of brain areas involved in social perception and cognition.
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PMID:Activation of the fusiform gyrus when individuals with autism spectrum disorder view faces. 1521 86

Autism is characterized by impairments in social interaction, communicative capacity and behavioral flexibility. Some cognitive theories can be useful for finding a relationship between these irregularities and the biological mechanisms that may give rise to this disorder. Among such theories are mentalizing deficit, weak central coherence and executive dysfunction, but none of them has been able to explain all three diagnostic symptoms of autism. These cognitive disorders may be related among themselves by faulty learning, since several research studies have shown that the brains of autistic individuals have abnormalities in the cerebellum, which plays a role in procedural learning. In keeping with this view, one may postulate the possibility that declarative memory replaces faulty procedural memory in some of its functions, which implies making conscious efforts in order to perform actions that are normally automatic. This may disturb cognitive development, resulting in autism symptoms. Furthermore, this mnesic imbalance is probably involved in all autism spectrum disorders. In the present work, this theory is expounded, including preliminary supporting evidence.
Ann Gen Psychiatry 2008 Oct 17
PMID:Mnesic imbalance: a cognitive theory about autism spectrum disorders. 1892 71

Ataxin 2 binding protein 1 (A2BP1 aka FOX1, RBFOX1) is an RNA binding protein responsible for regulation of pre-mRNA splicing events in a number of critical developmental genes expressed in muscle, heart and neuronal cells [Shibata et al. (2000); Mamm Genome 12:595-601; Jin et al. (2003); EMBO J 22:905-912; Underwood et al. (2005); Mol Cell Biol 25:10005-10016]. Rare copy number abnormalities of A2BP1 have been previously associated with cognitive impairment, attention deficit disorder and autism [Martin et al. (2007); Am J Med Gen Part B 144B:869-876; Elia et al. (2010); Mol Psychiatry 15:637-646.]. Using a 1M Illumina SNP microarray, we identified a 1.3 kb deletion in A2BP1, which was subsequently validated by quantitative PCR. Here we present an in depth case study of an individual with autism and mild developmental hemiparesis in whom the deletion was detected. This study provides further support for the possible role of rare copy number variants in A2BP1 in the development of autism and associated motor asymmetries.
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PMID:Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis. 2267 32

Several psychiatric conditions, both internalizing and externalizing, have been documented in comorbidity with Asperger Syndrome (AS) and High Functioning Autism (HFA). In this review we examine the interplay between psychiatric comorbidities and AS/HFA. In particular, we will focus our attention on three main issues. First, we examine which psychiatric disorders are more frequently associated with AS/HFA. Second, we review which diagnostic tools are currently available for clinicians to investigate and diagnose the associated psychiatric disorders in individuals with AS/HFA. Third, we discuss the challenges that clinicians and researchers face in trying to determine whether the psychiatric symptoms are phenotypic manifestations of AS/HFA or rather they are the expression of a distinct, though comorbid, disorder. We will also consider the role played by the environment in the manifestation and interpretation of these symptoms. Finally, we will propose some strategies to try to address these issues, and we will discuss therapeutic implications.
Ann Gen Psychiatry 2012 Jun 25
PMID:Psychiatric comorbidities in asperger syndrome and high functioning autism: diagnostic challenges. 2273 84


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