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

Autism spectrum disorders (ASDs) are heterogeneous disorders presenting with increased rates of anxiety. The adenosine A(2A) receptor gene (ADORA2A) is associated with panic disorder and is located on chromosome 22q11.23. Its gene product, the adenosine A(2A) receptor, is strongly expressed in the caudate nucleus, which also is involved in ASD. As autistic symptoms are increased in individuals with 22q11.2 deletion syndrome, and large 22q11.2 deletions and duplications have been observed in ASD individuals, in this study, 98 individuals with ASD and 234 control individuals were genotyped for eight single-nucleotide polymorphisms in ADORA2A. Nominal association with the disorder was observed for rs2236624-CC, and phenotypic variability in ASD symptoms was influenced by rs3761422, rs5751876 and rs35320474. In addition, association of ADORA2A variants with anxiety was replicated for individuals with ASD. Findings point toward a possible mediating role of ADORA2A variants on phenotypic expression in ASD that need to be replicated in a larger sample.
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PMID:Adenosine A(2A) receptor gene (ADORA2A) variants may increase autistic symptoms and anxiety in autism spectrum disorder. 1956 19

Executive dysfunction is a characteristic impairment of individuals with Autism Spectrum Disorders (ASD). However whether such deficits are related to autism per se, or to associated intellectual disability is unclear. This paper examines executive functions in a group of children with ASD (N=54, all IQ > or = 70) in relation to a typically developing control group individually matched on the basis of age, gender, IQ and vocabulary. Significant impairments in the inhibition of prepotent responses (Stroop, Junior Hayling Test) and planning (Tower of London) were reported for children with ASD, with preserved performance for mental flexibility (Wisconsin Card Sorting Task) and generativity (Verbal Fluency). Atypical age-related patterns of performance were reported on tasks tapping response inhibition and self-monitoring for children with ASD compared to controls. The disparity between these and previous research findings are discussed. A multidimensional notion of executive functions is proposed, with difficulties in planning, the inhibition of prepotent responses and self-monitoring reflecting characteristic features of ASD that are independent of IQ and verbal ability, and relatively stable across the childhood years.
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PMID:Executive functions in children with autism spectrum disorders. 1962 25

Autism spectrum disorders (ASDs) are developmental disorders which are thought primarily to affect social functioning. However, there is now a growing body of evidence that unusual sensory processing is at least a concomitant and possibly the cause of many of the behavioural signs and symptoms of ASD. A comprehensive and critical review of the phenomenological, empirical, neuroscientific and theoretical literature pertaining to visual processing in ASD is presented, along with a brief justification of a new theory which may help to explain some of the data, and link it with other current hypotheses about the genetic and neural aetiologies of this enigmatic condition.
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PMID:Vision in autism spectrum disorders. 1968 85

Autism spectrum disorder is a lifelong condition that currently has an unclear etiology and no known cure. Families of children on the autism spectrum typically have many questions and much to learn as they manage the disorder and create meaningful lives for their children and themselves. Helping families understand both features of autism and the diagnostic process is key to supporting family acceptance of the diagnosis. Nurses can also assist families in navigating the common process of grief and adjustment following diagnosis. As the diagnosis becomes real, many questions about medications and other treatments can be addressed by knowledgeable nurses. Additionally, nurses can support families in the critical areas of managing family life, addressing sibling needs, and planning for the future. Parent-to-parent advice from the mother of a child with autism supplements this article.
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PMID:Supporting families of children with autism spectrum disorders: questions parents ask and what nurses need to know. 1978 4

Autism spectrum disorder is a complex neurodevelopmental variant thought to affect 1 in 166 [Fombonne (2003): J Autism Dev Disord 33:365-382]. Individuals with autism demonstrate atypical social interaction, communication, and repetitive behaviors, but can also present enhanced abilities, particularly in auditory and visual perception and nonverbal reasoning. Structural brain differences have been reported in autism, in terms of increased total brain volume (particularly in young children with autism), and regional gray/white matter differences in both adults and children with autism, but the reports are inconsistent [Amaral et al. (2008): Trends Neurosci 31:137-145]. These inconsistencies may be due to differences in diagnostic/inclusion criteria, and age and Intelligence Quotient of participants. Here, for the first time, we used two complementary magnetic resonance imaging techniques, cortical thickness analyses, and voxel-based morphometry (VBM), to investigate the neuroanatomical differences between a homogenous group of young adults with autism of average intelligence but delayed or atypical language development (often referred to as "high-functioning autism"), relative to a closely matched group of typically developing controls. The cortical thickness and VBM techniques both revealed regional structural brain differences (mostly in terms of gray matter increases) in brain areas implicated in social cognition, communication, and repetitive behaviors, and thus in each of the core atypical features of autism. Gray matter increases were also found in auditory and visual primary and associative perceptual areas. We interpret these results as the first structural brain correlates of atypical auditory and visual perception in autism, in support of the enhanced perceptual functioning model [Mottron et al. (2006): J Autism Dev Disord 36:27-43].
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PMID:Neuroanatomical differences in brain areas implicated in perceptual and other core features of autism revealed by cortical thickness analysis and voxel-based morphometry. 1979 Jan 71

Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5-10% of the patients with ASD, and recent applications of array comparative genomic hybridisation (aCGH) are identifying further candidate regions and genes. In this study, we present four patients who implicate microcephalin 1 (MCPH1) in band 8p23.1 as an ASD susceptibility gene. Patient 1 was a girl with a syndromic form of autistic disorder satisfying the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS) and Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. Oligonucleotide aCGH (oaCGH) showed that she had a classic inv dup del(8)(qter-> p23.1::p23.1-> p21.2) containing at least three candidate genes; MCPH1 and DLGAP2 within the 6.9-Mb terminal deletion and NEF3 within the concomitant 14.1-Mb duplication. Three further patients with MCPH1 copy number changes were found using single-nucleotide polymorphism (SNP) array analysis in a cohort of 54 families with ASD patients. Our results show that ASD can be a component of the classical inv dup del(8) phenotype and identify changes in copy number of MCPH1 as a susceptibility factor for ASD in the distal short arm of chromosome 8.
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PMID:Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders. 1979 10

Potential contributions of environmental chemicals and conditions to the etiology of Autism Spectrum Disorders are the subject of considerable current research and speculation. The present paper describes the results of a study undertaken as part of a larger project devoted to the connection between properties of the indoor environment and asthma and allergy in young Swedish children. The larger project, The Dampness in Buildings and Health (DBH) Study, began in the year 2000 with a questionnaire distributed to parents of all children 1-6 years of age in one Swedish county (DBH-I). A second, follow-up questionnaire (DBH-III) was distributed in 2005. The original survey collected information about the child, the family situation, practices such as smoking, allergic symptoms, type of residence, moisture-related problems, and type of flooring material, which included polyvinyl chloride (PVC). The 2005 survey, based on the same children, now 6-8 years of age, also asked if, during the intervening period, the child had been diagnosed with Autism, Asperger's syndrome, or Tourette's syndrome. From a total of 4779 eligible children, 72 (60 boys, 12 girls) were identified with parentally reported autism spectrum disorder. A random sample of 10 such families confirmed that the diagnoses had been made by medical professionals, in accordance with the Swedish system for monitoring children's health. An analysis of the associations between indoor environmental variables in 2000 as well as other background factors and the ASD diagnosis indicated five statistically significant variables: (1) maternal smoking; (2) male sex; (3) economic problems in the family; (4) condensation on windows, a proxy for low ventilation rate in the home; (5) PVC flooring, especially in the parents' bedroom. In addition, airway symptoms of wheezing and physician-diagnosed asthma in the baseline investigation (2000) were associated with ASD 5 years later. Results from the second phase of the DBH-study (DBH-II) indicate PVC flooring to be one important source of airborne phthalates indoors, and that asthma and allergy prevalence are associated with phthalate concentrations in settled dust in the children's bedroom. Because these associations are among the few linking ASD with environmental variables, they warrant further and more extensive exploration.
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PMID:Associations between indoor environmental factors and parental-reported autistic spectrum disorders in children 6-8 years of age. 1982 63

Visual fixation patterns whilst viewing complex photographic scenes containing one person were studied in 24 high-functioning adolescents with Autism Spectrum Disorders (ASD) and 24 matched typically developing adolescents. Over two different scene presentation durations both groups spent a large, strikingly similar proportion of their viewing time fixating the person's face. However, time-course analyses revealed differences between groups in priorities of attention to the region of the face containing the eyes. It was also noted that although individuals with ASD were rapidly cued by the gaze direction of the person in the scene, this was not followed by an immediate increase in total fixation duration at the location of gaze, which was the case for typically developing individuals.
J Autism Dev Disord 2010 May
PMID:Do gaze cues in complex scenes capture and direct the attention of high functioning adolescents with ASD? Evidence from eye-tracking. 1990 97

The effect of developmental quotient on symptoms of inattention and impulsivity was examined among 198 toddlers with Autism Spectrum Disorders. There were two levels of developmental quotient: (1) low (less than or equal to 70; n=80), and (2) typical (greater than 70; n=118). Symptoms of inattention and impulsivity were assessed using 14 items that comprise the BISCIUT-Part 2 inattention/impulsivity subscale. There was no significant effect of developmental quotient on these items representing inattention and impulsivity when severity of Autism Spectrum Disorder symptoms was controlled for. However, the covariate, severity of Autism Spectrum Disorder symptoms, was significantly related to 12 of the 14 items. Percent endorsement of impairment of symptoms relating to inattention and impulsivity for the low and typical developmental quotient groups is also listed. Implications of the results are also discussed.
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PMID:Effect of developmental quotient on symptoms of inattention and impulsivity among toddlers with Autism Spectrum Disorders. 1991 96

Caregiver report on the Adaptive Behavior Assessment System-II (ABAS) for 40 high-functioning individuals with Autism Spectrum Disorders (ASD) and 30 typically developing (TD) individuals matched for age, IQ, and sex ratio revealed global adaptive behavior deficits in ASD, with social skills impairments particularly prominent. Within the ASD group, adaptive communication skills were positively related to IQ while global adaptive functioning was negatively associated with autism symptomatology. Autistic behavior ratings related negatively to ABAS scores in the TD but not the ASD group. This investigation demonstrates: the utility of an adaptive functioning checklist for capturing impairments, even in high-functioning individuals with ASD; and that a relationship between social abilities and autism exists independently of intelligence.
J Autism Dev Disord 2010 Apr
PMID:Adaptive behavior ratings correlate with symptomatology and IQ among individuals with high-functioning autism spectrum disorders. 1994 46


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