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

Magnetic resonance imaging (MRI) has opened a new window to the brain. Measuring hippocampal volume with MRI has provided important information about several neuropsychiatric disorders. We reviewed the literature and selected all English-language, human subject, data-driven papers on hippocampal volumetry, yielding a database of 423 records. Smaller hippocampal volumes have been reported in epilepsy, Alzheimer's disease, dementia, mild cognitive impairment, the aged, traumatic brain injury, cardiac arrest, Parkinson's disease, Huntington's disease, Cushing's disease, herpes simplex encephalitis, Turner's syndrome, Down's syndrome, survivors of low birth weight, schizophrenia, major depression, posttraumatic stress disorder, chronic alcoholism, borderline personality disorder, obsessive-compulsive disorder, and antisocial personality disorder. Significantly larger hippocampal volumes have been correlated with autism and children with fragile X syndrome. Preservation of hippocampal volume has been reported in congenital hyperplasia, children with fetal alcohol syndrome, anorexia nervosa, attention-deficit and hyperactivity disorder, bipolar disorder, and panic disorder. Possible mechanisms of hippocampal volume loss in neuropsychiatric disorders are discussed.
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PMID:MR-based in vivo hippocampal volumetrics: 2. Findings in neuropsychiatric disorders. 1535 39

Despite considerable progress in the last few years, the neurobiologic basis of autism in tuberous sclerosis complex is still largely unknown and its clinical management represents a major challenge for child neurologists. Recent evidence suggests that early-onset refractory epilepsy and functional deficits associated with the anatomical lesions in the temporal lobes may be associated with autism. No one factor alone (cognitive impairment, tuber localization, occurrence of infantile spasms, focal EEG abnormalities), can be causally linked with the abnormal behaviour. Autism may also reflect a direct effect of the abnormal genetic program. Incidence of autism associated with Tuberous Sclerosis may be significantly higher than the rates of cardiac and renal abnormalities, for which screening is routinely conducted in this population. Hopefully, early diagnosis of autism will allow for earlier treatment and the potential for better outcome for children with Tuberous Sclerosis.
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PMID:Autism in tuberous sclerosis. 1554 89

The co-occurrence of autism spectrum disorder and tuberous sclerosis complex has been recognized for decades. The prevalence of tuberous sclerosis complex in the autism spectrum disorder population is 1 to 4%, whereas features of autism spectrum disorder are present in 25 to 50% of individuals with tuberous sclerosis complex. The underlying reason for this association might be a nonspecific disruption of brain function owing to tuberous sclerosis complex, including tuber location, seizures and their effect on brain development, cognitive impairment, a disturbance in brain development in regions associated with autism spectrum disorder, or, less likely, a linkage between a TSC gene and an autism susceptibility gene. Awareness of the relationship between autism spectrum disorder and tuberous sclerosis complex is important during the evaluation of individuals with either disorder. Better delineation of the association and its causative factors is needed for the development of possible interventions.
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PMID:Autism and tuberous sclerosis. 1556 13

Duplication of part or the entirety of chromosome 15 that involves the Prader-Willi/Angelman syndrome critical region (PWACR) is a genetic disorder which is associated with variable degrees of intellectual impairment, motor co-ordination problems and social and communication disorders. Published case reports indicate that phenotypic expression is dependent on parental origin of the duplication and implicate maternally derived duplications in the pathogenesis of autistic features. This article describes three individuals, two males and one female, aged between 5 and 8 years, all with partial duplication of chromosome 15. Autism (or autistic spectrum disorder) was present in all three instances with varying degrees of cognitive impairment. The aim of this paper is to describe the phenotypic characteristics of this genetic sequence and the possible associations between social and behavioural patterns on the one hand, and degree and nature of genetic impairment on the other.
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PMID:Autistic spectrum disorder associated with partial duplication of chromosome 15; three case reports. 1561 52

Rett syndrome (RS), a neurological developmental disorder, is one of the commonest causes of cognitive impairment in girls and women. These patients are often initially misdiagnosed as idiopathic mental retardation, cerebral palsy, or autism. Despite several reports from the West, there are very few reports from the Indian population. We present four female children with RS and emphasize the importance of early diagnosis.
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PMID:Recent experience with Rett syndrome at a tertiary care center. 1562 43

Tuberous sclerosis complex is a multisystem disorder in which neurologic problems cause the greatest disability. High rates of mental retardation and autism spectrum disorders are associated with the diagnosis. Early-onset seizures and increased tuber burden are risk factors for cognitive impairment. Early-onset seizures, particularly infantile spasms, are risk factors for autism. Tubers within the temporal lobe and cerebellum are often mentioned as risk factors for autism, although the findings are inconsistent. Seizure control is important for developmental outcome and quality of life. Early behavioral assessment and therapeutic intervention, as well as seizure control, are the most effective means of promoting neurodevelopmental outcome.
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PMID:Cognitive and behavioral correlates of tuberous sclerosis complex. 1565 88

Between 40% and 80% of the variation in human intelligence (IQ) is attributable to genetic factors. Except for many rare mutations resulting in severe cognitive dysfunction, attempts to identify these factors have not been successful. We report a genomewide linkage scan involving 634 sibling pairs designed to identify chromosomal regions that explain variation in IQ. Model-free multipoint linkage analysis revealed evidence of a significant quantitative-trait locus for performance IQ at 2q24.1-31.1 (LOD score 4.42), which overlaps the 2q21-33 region that has repeatedly shown linkage to autism. A second region revealed suggestive linkage for both full-scale and verbal IQs on 6p25.3-22.3 (LOD score 3.20 for full-scale IQ and 2.33 for verbal IQ), overlapping marginally with the 6p22.3-21.31 region implicated in reading disability and dyslexia.
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PMID:A genomewide scan for intelligence identifies quantitative trait loci on 2q and 6p. 1600 63

Autism is associated with epilepsy in early childhood, with evidence suggesting that individuals with both autism and more severe cognitive impairment are at higher risk. However, the incidence of an abnormal electroencephalogram and/or epilepsy in the full range of pervasive developmental disorders (PDDs) is not well defined. This naturalistic study addresses the incidence of epilepsy and electroencephalographic abnormalities in children with PDDs. The clinical history and electroencephalograms of 56 children diagnosed with PDD-not otherwise specified, autism, or Asperger syndrome were retrospectively reviewed. Forty percent of children with autism were diagnosed with epilepsy. Abnormal electroencephalograms and epilepsy occurred at significantly higher rates in children in the more impaired range of the autism spectrum (P<0.05). These findings suggest that the use of neurological investigative techniques such as electroencephalography should be a consequence of careful clinical evaluation and should be considered routinely during evaluation of more impaired individuals.
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PMID:Autism and epilepsy: cause, consequence, comorbidity, or coincidence? 1624 35

An open prospective clinical study included 25 patients with childhood autism aged from 3 to 8 years (mean age 5 years 11 months). Patients received 2 therapeutic courses (15 intramuscular Cerebrolysin injections of 1.0 ml every other day per course) with 2 months interval and basic antipsychotic therapy using typical neuroleptics in age-adjusted dosages. The duration of the study was 180 days. Significant or very significant improvement was achieved after the 1st Cerebrolysin course in 38% patients, after the 2nd course in more than 50% and to the end of the follow-up (180th day) in 71% of patients. There were no cases of deterioration during the trial. The autism severity as measured by the CARS scale consistently decreased from the day 0 to the day 180--from 37.7 to 32.6 scores, respectively (p < 0.001) in all assessments as compared with the baseline. To the end of the study, the patients demonstrated a significant decrease in mental retardation by 0.2 years. A statistically significant improvement was achieved in cognitive activity, attention during task performing as well as in self-service (by 0.3 years), receptive and expressive speech, cognitive performance and perception (by 0.2 years), fine motor function (by 0.1 years). The combined therapy comprising neuroleptics and Cerebrolysin double course can be recommended for correction of behavioral disorders and cognitive dysfunction in patients with mild moderate and moderate/severe autism.
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PMID:[An effect of long-term cerebrolysin therapy in combination with neuroleptics on behavioral and cognitive disturbances in endogenous childhood autism]. 1654 70

A group of children with autism were taught a specific strategy to help them solve a series of theory of mind problems. We focused our teaching on the false-belief task and taught them the analogy that people have photos in their heads. This strategy draws on a domain of intact cognition in autism (understanding photographic representations) to bypass a cognitive impairment in a certain domain (understanding mental state representations). All the children were able to understand photographic misrepresentation during teaching and, following specific teaching, they could use the strategy of visualising photos in characters' heads to predict the character's behaviour. In contrast, none of the children could use the photo strategy to predict a character's mental states. The educational and theoretical implications of this study are discussed.
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PMID:What's inside someone's head? Conceiving of the mind as a camera helps children with autism acquire an alternative to a theory of mind. 1657 75


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