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

Conducting basic scientific research on a complex psychiatric disorder, such as autism, is a challenging prospect. It is difficult to dissociate the fundamental neurological and psychological processes that are disturbed in autism and, therefore, it is a challenge to discover accurate and reliable animal models of the disease. Because of their role in animal models of social processing and social bonding, the neuropeptides oxytocin and vasopressin are strong candidates for dysregulation in autism. In this review, we discuss the current animal models which have investigated oxytocin and vasopressin systems in the brain and their effects on social behavior. For example, mice lacking the oxytocin gene have profound deficits in social processing and social recognition, as do rats lacking vasopressin or mice lacking the vasopressin V1a receptor (V1aR). In another rodent model, monogamous prairie voles are highly social and form strong pair bonds with their mates. Pair bonds can be facilitated or disrupted by perturbing the oxytocin and vasopressin systems. Non-monogamous vole species that do not pair bond have different oxytocin and V1aR distribution patterns in the brain than monogamous vole species. Potential ties from these rodent models to the human autistic condition are then discussed. Given the hallmark disturbances in social function, the study of animal models of social behavior may provide novel therapeutic targets for the treatment of autism.
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PMID:Neuropeptides and the social brain: potential rodent models of autism. 1574 48

We report a male child with autism found to have maternal uniparental disomy (UPD) of chromosome 1. The child met diagnostic criteria for the three symptom domains of autism: language impairment, deficient social communication and excessively rigid and repetitive behaviours. He also had a variety of features often associated with autism, including mild mental retardation, small head circumference, hyperactivity, poor fine motor skills, slightly dysmorphic facial features and a heightened interest in olfactory stimulation. His brother, who did not have chromosome 1 UPD, was also autistic. The mother, but not the father, had a history of psychiatric illness and a number of personality and social traits similar to the core features of autism. The discovery of the cytogenetic abnormality was made during the course of a genome-wide linkage screen, wherein genotypes at 6 out of 17 chromosome 1 markers were non-Mendelian and all transmissions were consistent with UPD. Further genotyping (a total of 54 markers) revealed alternating regions of heterodisomy and isodisomy. Whereas chromosome 1 UPD has not been shown to cause disease by effects on imprinting, numerous reports exist of the abnormality unmasking recessive disease-causing mutations. In agreement with this, one of the regions of isodisomy overlaps an emerging chromosome 1 region of interest in autism located at 150-160 Mb.
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PMID:A case of autism and uniparental disomy of chromosome 1. 1588

The aim of this study was to evaluate the clinical features and frequency of autistic disorder or Asperger syndrome (AS; according to Diagnostic and Statistical Manual of Mental Disorders, 4th edition [DSM-IV] criteria) in children exposed to anticonvulsant medication in utero. During a 20-year study period, 626 children were born in Aberdeen to mothers taking antiepileptic drugs (AEDs). The study examined long-term effects of prenatal exposure to AEDs in 260 children (122 males, 138 females). Of these, 26 (16 males) were reported by parents to have social or behavioural difficulties. Eleven children (6 males, 5 females) fulfilled the DSM-IV criteria for autistic disorder and one (female) fulfilled the DSM-IV criteria for AS. These children comprised 4.6% of the exposed children studied, and 1.9% of all exposed children born during the study period. Mean age of these children at diagnosis was 5 years 4 months (SD 2y 11mo) and 9 years 10 months (SD 3y 10mo) at the time of this study. Other children from the group of 26 had difficulties in areas of speech and language development and social communication but did not meet the criteria for an autism spectrum disorder (ASD). Sodium valproate was the drug most commonly associated with autistic disorder, five of 56 (8.9%) of the study children exposed to sodium valproate alone had either autistic disorder or AS. It was concluded that prenatal exposure to anticonvulsant medication is a risk factor for the development of an ASD. Fetal anticonvulsant syndrome associated autistic disorder is characterized by an even sex ratio, absence of regression or skill loss, and language delay in the absence of global delay.
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PMID:Characteristics of fetal anticonvulsant syndrome associated autistic disorder. 1610 56

This study describes the characteristics of children with autistic spectrum disorders (ASD) receiving treatment in community mental health settings. Data from a national community mental health initiative was used to identify children who had received a primary diagnosis of ASD. These children were compared with children with other diagnoses on socio-demographic and psychosocial characteristics, presenting problems and service histories. Regardless of diagnosis, children were most often referred to service because of disruptive behaviors. Children with ASD were less likely to be referred for drug use, truancy or running away, but were more likely to be referred for social interaction difficulties and strange behavior. Many children had family histories of mental illness, substance abuse and domestic violence. Implications of these findings are discussed in detail.
J Autism Dev Disord 2005 Jun
PMID:Characteristics of children with autistic spectrum disorders served in comprehensive community-based mental health settings. 1611 72

A substantial contribution of genetic factors to the risk of psychiatric disorders such as schizophrenia, bipolar disorder, autism, and drug and alcohol dependence has already been established. However, the familial transmission of these disorders cannot be explained by simple Mendelian models of inheritance, and non-genetic factors must also play a substantial role in their etiologies. Furthermore, the prevalence of any major psychiatric disorder is a great deal higher than that of Mendelian disorders. It has been suggested that evolutionary forces would rapidly eliminate large gene effects, which would suggest that mental disorders, which are highly prevalent, are associated with minor gene effects (Risch, 1994). The current paradigm is that genes with small interacting genetic effects, in conjunction with environmental factors, affect the risk for psychiatric disease. New laboratory and statistical methodology and database tools, and the availability of large clinical samples for the study of linkage and association sustain optimism that genes involved with these diseases will be characterized in the near future. This accomplishment should in turn lead not only to a better understanding of the primary molecular pathophysiology and to more specific and effective therapies, but also to a better understanding of non-genetic risk factors that could be targets for preventive strategies.
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PMID:Complexities in psychiatric genetics. 1619 61

Compulsive buying is an understudied, but growing, dysfunctional consumer behaviour with harmful psychological and financial consequences. Clinical perspectives treat it as a psychiatric disorder, whereas recent proposals emphasize the increasing endorsement of materialistic values as a cause of uncontrolled buying (e.g. Dittmar, 2004b; Kasser & Kanner, 2004). The present research aims to improve understanding of compulsive buying through examining gender, age, and endorsement of materialistic values as key predictors in three UK questionnaire studies, which sampled individuals who had contacted a self-help organization and residentially matched 'controls' (N = 330), consumer panelists from a multinational corporation (N = 250), and 16- to 18-year-old adolescents (N = 195). The results confirmed previously documented gender differences, and showed that younger people are more prone to compulsive buying. The central findings were that materialistic value endorsement emerged as the strongest predictor of individuals' compulsive buying, and that it significantly mediated the observed age differences.
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PMID:Compulsive buying--a growing concern? An examination of gender, age, and endorsement of materialistic values as predictors. 1624 37

Presented is a review of recent progress in the understanding of autism based on investigations of donated human brain tissue. Autism is a pervasive developmental disorder by the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria, manifesting by age 3 and characterized by impairments in social interaction and communication, as well as restricted, repetitive, stereotyped patterns of behavior. Based on reported neuropathologic findings, these characteristic behaviors are clinical manifestations of both pre- and postnatal alterations. This review summarizes the current data obtained from postmortem brain studies in the areas of stereology, neurotransmitter systems/synaptic processes, molecular mechanisms, and neuroimmunology. In addition, we discuss current research strategies designed to facilitate translational research and maximize the yield of precious resources (e.g. the Autism Tissue Program), highlight barriers to research, and consider future trends.
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PMID:The neuropathology of autism: a review. 1625 87

We propose that stronger than usual correlations between abilities indicate which cognitive processes are impaired in autism. Study 1 compared partial correlations (controlling age) between intelligence and social cognition in children with autism (n = 18), mental retardation (MR; n = 34), or no psychological disorder (n = 37). Correlations were stronger in the autism group. Study 2 compared correlations between measures of perceptual organization and verbal comprehension, receptive and expressive language, fine and gross motor coordination, and theory of mind, emotion recognition, and emotion understanding abilities in children with autism (n = 30) or MR (n = 24) and in a large representative sample of children (n = 449). Results indicate that autism is marked by stronger correlations between all ability domains, and MR is marked by stronger correlations between motor coordination tasks and other ability measures.
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PMID:Are abilities abnormally interdependent in children with autism? 1639 Mar

The overall prevalence rates of general and specific child psychiatric disorders in Danish children are unknown. In this study, which aimed to estimate prevalence rates, a multi-method strategy using a two-step design was employed. The first step involved assessment with the Child Behaviour Checklist (CBCL). The second step consisted of assessment using the Schedule for Affective Disorders and Schizophrenia for School-Aged Children; Present and Lifetime version (K-SADS-PL), The Children's Global Assessment Scale (C-GAS), The Wechsler Intelligence Scale for Children (WISCIII), The Autism Spectrum Disorder Screening Questionnaire (ASSQ), and a checklist containing the diagnostic criteria for Pervasive Developmental Disorders (PDD). Non-respondents were assessed through teachers using a modified brief version of the K-SADS-PL. A total of 751 children were targeted. The overall estimated prevalence rate of child psychopathology was 11.8 % [95% confidence interval (CI): 8.8, 14.8]. Attention Deficit/ Hyperactivity Disorder (ADHD) was found to be the most common specific child psychiatric disorder. There was no difference in prevalence rates between respondents and non-respondents. The estimated prevalence rates were broadly comparable to prevalence rates found in other epidemiological studies. The teacher-based interview proved to be a valid instrument for the assessment of non-respondents.
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PMID:The population prevalence of child psychiatric disorders in Danish 8- to 9-year-old children. 1647 77

Autistic spectrum disorders can be associated with mitochondrial dysfunction. We present a singleton case of developmental regression and oxidative phosphorylation disorder in a 19-month-old girl. Subtle abnormalities in the serum creatine kinase level, aspartate aminotransferase, and serum bicarbonate led us to perform a muscle biopsy, which showed type I myofiber atrophy, increased lipid content, and reduced cytochrome c oxidase activity. There were marked reductions in enzymatic activities for complex I and III. Complex IV (cytochrome c oxidase) activity was near the 5% confidence level. To determine the frequency of routine laboratory abnormalities in similar patients, we performed a retrospective study including 159 patients with autism (Diagnostic and Statistical Manual of Mental Disorders-IV and Childhood Autism Rating Scale) not previously diagnosed with metabolic disorders and 94 age-matched controls with other neurologic disorders. Aspartate aminotransferase was elevated in 38% of patients with autism compared with 15% of controls (P <.0001). The serum creatine kinase level also was abnormally elevated in 22 (47%) of 47 patients with autism. These data suggest that further metabolic evaluation is indicated in autistic patients and that defects of oxidative phosphorylation might be prevalent.
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PMID:Developmental regression and mitochondrial dysfunction in a child with autism. 1882 80


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