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

PDD-NOS has been an illusive diagnostic category in Autism Spectrum Disorders (ASD). It is a frequently occurring ASD, but it has typically been defined by what it is not-autism. This latter condition has received the bulk of the attention in the development of diagnostic methods, while PDD-NOS has largely been ignored from a diagnostic standpoint. The symptoms that characterize PDD-NOS in adults with intellectual disability (ID), beyond the extrapolation of a few child studies, are largely unknown. This study is an attempt to provide systematic empirical data to describe the condition of PDD-NOS in adults with ID. The implication of these data for diagnosis and future research are discussed.
J Autism Dev Disord 2008 Mar
PMID:PDD-NOS symptoms in adults with intellectual disability: toward an empirically oriented diagnostic model. 1768 39

Autism spectrum disorders (ASDs) are characterized by impairments in social behaviors that are sometimes coupled to specialized cognitive abilities. A small percentage of ASD patients carry mutations in genes encoding neuroligins, which are postsynaptic cell-adhesion molecules. We introduced one of these mutations into mice: the Arg451-->Cys451 (R451C) substitution in neuroligin-3. R451C mutant mice showed impaired social interactions but enhanced spatial learning abilities. Unexpectedly, these behavioral changes were accompanied by an increase in inhibitory synaptic transmission with no apparent effect on excitatory synapses. Deletion of neuroligin-3, in contrast, did not cause such changes, indicating that the R451C substitution represents a gain-of-function mutation. These data suggest that increased inhibitory synaptic transmission may contribute to human ASDs and that the R451C knockin mice may be a useful model for studying autism-related behaviors.
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PMID:A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. 1791 18

Obsessive Compulsive Disorder (OCD) involves exaggerated or excessive worry about threatening and non-threatening stimuli coupled with impairing rituals believed to reduce anxiety. Autism Spectrum Disorders (ASD) are characterized by impairment in social and communicative activities as well as restricted and repetitive behaviors. Approximately 2% of children with ASD are also diagnosed with OCD. Although there is extensive research demonstrating the effectiveness of behavioral interventions for pediatric OCD, little is known about how effective these treatments are for children who have a dual diagnosis of OCD and ASD. This report describes a 12-year-old male with Autism who was treated successfully with cognitive behavioral therapy with exposure and response prevention. This case study provides initial support that cognitive-behavioral therapy is effective in symptom reduction for children with comorbid autism and OCD.
J Autism Dev Disord 2008 May
PMID:Brief report: exposure and response prevention for obsessive compulsive disorder in a 12-year-old with autism. 1788 1

Autism Spectrum Disorders (ASD) diagnosis in very young children may be delayed due to doubts about validity. In this study, 77 children received a diagnostic and developmental evaluation between 16 and 35 months and also between 42 and 82 months. Diagnoses based on clinical judgment, Childhood Autism Rating Scale, and the Autism Diagnostic Observation Schedule were stable over time. Diagnoses made using the Autism Diagnostic Interview were slightly less stable. According to clinical judgment, 15 children (19%) moved off the autism spectrum by the second evaluation; none moved onto the spectrum. Results indicate diagnostic stability at acceptable levels for diagnoses made at age 2. Movement off the spectrum may reflect true improvement based on maturation, intervention, or over-diagnosis at age 2.
J Autism Dev Disord 2008 Apr
PMID:Diagnostic stability in very young children with autism spectrum disorders. 1792 83

Autism spectrum disorders are not rare; many primary care pediatricians care for several children with autism spectrum disorders. Pediatricians play an important role in early recognition of autism spectrum disorders, because they usually are the first point of contact for parents. Parents are now much more aware of the early signs of autism spectrum disorders because of frequent coverage in the media; if their child demonstrates any of the published signs, they will most likely raise their concerns to their child's pediatrician. It is important that pediatricians be able to recognize the signs and symptoms of autism spectrum disorders and have a strategy for assessing them systematically. Pediatricians also must be aware of local resources that can assist in making a definitive diagnosis of, and in managing, autism spectrum disorders. The pediatrician must be familiar with developmental, educational, and community resources as well as medical subspecialty clinics. This clinical report is 1 of 2 documents that replace the original American Academy of Pediatrics policy statement and technical report published in 2001. This report addresses background information, including definition, history, epidemiology, diagnostic criteria, early signs, neuropathologic aspects, and etiologic possibilities in autism spectrum disorders. In addition, this report provides an algorithm to help the pediatrician develop a strategy for early identification of children with autism spectrum disorders. The accompanying clinical report addresses the management of children with autism spectrum disorders and follows this report on page 1162 [available at www.pediatrics.org/cgi/content/full/120/5/1162]. Both clinical reports are complemented by the toolkit titled "Autism: Caring for Children With Autism Spectrum Disorders: A Resource Toolkit for Clinicians," which contains screening and surveillance tools, practical forms, tables, and parent handouts to assist the pediatrician in the identification, evaluation, and management of autism spectrum disorders in children.
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PMID:Identification and evaluation of children with autism spectrum disorders. 1838 46

This is the first report from a large multiple baseline single-subject design study of children with Autism Spectrum Disorders (ASD). This brief report examines effectiveness of teaching a social cognitive (Social Thinking) approach to six males with Asperger syndrome (AS) or High Functioning Autism (HFA). Data included are restricted to pre- post-treatment comparisons of verbal and non-verbal social behaviors. Structured treatment and semi-structured generalization sessions occurred over eight weeks. Results indicated significant changes from pre- to post- measures on both verbal/nonverbal "expected" and "unexpected" behaviors, significant increases in the subcategories of "expected verbal", "listening/thinking with eyes", and "initiations", and robust decreases in the subcategories of "unexpected-verbal" and "unexpected-nonverbal". Importance of social cognitive approaches for children AS and HFA is discussed.
J Autism Dev Disord 2008 Mar
PMID:Brief Report: measuring the effectiveness of teaching social thinking to children with Asperger syndrome (AS) and High Functioning Autism (HFA). 1802 29

Autism spectrum disorders (ASDs) are characterised by a relatively specific pattern of typical and atypical memory functioning. Convergent behavioural and neuroscientific evidence indicates that this pattern of functioning may be the result of specific impairments in hippocampally mediated relational memory processes, whilst brain-mechanisms mediating item-specific memory processes remain intact. In the current paper we draw on a behavioural paradigm developed by Hunt and Seta [Hunt, R. R., & Seta, C. E. (1984). Category size effects in recall--The roles of relational and individual item information. Journal of Experimental Psychology: Learning, Memory and Cognition, 10, 454-464], which not only allowed us to determine whether individuals with ASD did indeed experience selective difficulties in relational processes, but in addition enabled us to gain insights into the severity of this impairment. Our results suggest that whilst individuals with ASD employ relational memory processes atypically, this impairment seems restricted to situations in which such processes need to be deployed spontaneously to facilitate memory. Under situations that provide environmental support for the processing of relational information, individuals with ASD did demonstrate the ability to employ such processes relatively effectively. These findings provide further support for the 'Task Support Hypothesis' and suggest that relational memory processes may in principle be functionally intact despite not being triggered by the same environmental situations as in typical development.
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PMID:Free recall in autism spectrum disorder: the role of relational and item-specific encoding. 1816 20

Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.
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PMID:A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. 1818 41

Autism spectrum disorders (ASDs) are a class of neurodevelopmental disorders defined by qualitative impairments in social functioning and communication, often accompanied by repetitive and stereotyped patterns of behavior and interests. The term 'ASD' encompasses autism, pervasive developmental disorder not otherwise specified, and Asperger's syndrome. ASDs show etiologic heterogeneity, and there is no definitive medical test or cure for these conditions. Around 1 in 150 children have an ASD, with males being affected three to four times more frequently than females. The age at diagnosis of ASD ranges from 3 to 6 years, but there is increasing evidence that diagnosis in the second year of life is possible in some children. Early diagnosis will lead to earlier behavior-based intervention, which is associated with improvements in core areas, such as social functioning and communication. Early detection of-and intervention to treat-ASD is crucial because it is likely to lead to an improved outcome.
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PMID:Diagnosis of autism spectrum disorders in the first 3 years of life. 1825 2

Autism spectrum disorder is a heterogeneous, behaviorally defined, neurodevelopmental disorder that occurs in 1 in 150 children. Individuals with autism have deficits in social interaction and verbal and nonverbal communication and have restricted or stereotyped patterns of behavior. They might also have co-morbid disorders including intellectual impairment, seizures and anxiety. Postmortem and structural magnetic resonance imaging studies have highlighted the frontal lobes, amygdala and cerebellum as pathological in autism. However, there is no clear and consistent pathology that has emerged for autism. Moreover, recent studies emphasize that the time course of brain development rather than the final product is most disturbed in autism. We suggest that the heterogeneity of both the core and co-morbid features predicts a heterogeneous pattern of neuropathology in autism. Defined phenotypes in larger samples of children and well-characterized brain tissue will be necessary for clarification of the neuroanatomy of autism.
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PMID:Neuroanatomy of autism. 1825 9


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