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

On the basis of work reported by colleagues, as well as our own clinical research studies of patients with the aforementioned syndromes, there are now some useful guidelines for appropriate remediation based on accurate initial diagnosis. Still, there is more to be learned about each of these syndromes. Furthermore, they represent but a small sample of a very large total. Recent literature has described the speech patterns of many more syndromes, as well as the genetic aspects of the more common speech and language disorders such as language delay, dyslexia, autism, and stuttering [72-78]. The most common recognizable birth defect is Down syndrome and there is, fortunately, a large body of information detailing the varied language, speech, and hearing aspects [79]. Those of us who work with children with Down syndrome have been alerted to the anticipated receptive and expressive language delays; the conductive and sometimes mixed hearing losses; the hoarse and raucous voices that are probably the result of a combination of anatomic, neurologic, and mucosal variations; the interesting disfluencies, and the amalgam of developmental and deviant articulatory errors. We know that although the tongue protrudes, it is rarely the true macroglossia which we would find in Beckwith syndrome, for example, but rather a hypotonic posture and a logical adaptation to an airway restricted by enlarged tonsils and adenoids and recurrent rhinitis.
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PMID:The effect of syndrome diagnosis on speech remediation. 293 Nov 38

Of the chronic mental disabilities of childhood, autism is causally least well understood. The former view that autism was rooted in exposure to humorless and perfectionistic parenting has given way to the notion that genetic influences are dominant underlying factors. Still, identification of specific heritable factors has been slow with causes identified in only a few cases in unselected series. A broad search for genetic and environmental influences that cause or predispose to autism is the major thrust of the South Carolina Autism Project. Among the first 100 cases enrolled in the project, abnormalities of chromosome 15 have emerged as the single most common cause. The four abnormalities identified include deletions and duplications of proximal 15q. Other chromosome aberrations seen in single cases include a balanced 13;16 translocation, a pericentric inversion 12, a deletion of 20p, and a ring 7. Candidate genes involved in the 15q region affected by duplication and deletion include the ubiquitin-protein ligase (UBE3A) gene responsible for Angelman syndrome and genes for three GABA(A) receptor subunits. In all cases, the deletions or duplications occurred on the chromosome inherited from the mother.
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PMID:Autism and maternally derived aberrations of chromosome 15q. 954 97

During middle childhood, children develop an increasing understanding of intentions and other social information conveyed through dynamic facial cues such as changes in eye-gaze direction. Recent work in our laboratory has focused on using functional magnetic resonance imaging (fMRI) in adults to map the neural circuitry subserving the visual analysis of others' actions and the intentions underlying these actions. In these studies, the superior temporal sulcus (STS) region has been continually implicated in processing shifts in eye gaze. Further, these studies have indicated that STS activity is modulated by the context within which eye-gaze shifts occur, suggesting that this region is involved in social perception via its role in the analysis of the intentions of observed actions. Still, no studies have investigated the neural circuitry supporting eye-gaze processing in children. We used event-related fMRI to examine brain activity in 7- to 10-year-old healthy children observing an animated virtual actor who shifted her eyes towards either a target object or empty space. Consistent with prior studies in adults, the STS, middle temporal gyrus, and inferior parietal lobule were sensitive to the intentions underlying the stimulus character's eye movements. These findings suggest that the neural circuitry underlying the processing of eye gaze and the detection of intentions conveyed through shifts in eye gaze in children are similar to that found previously in adults. We discuss these findings and potential implications for mapping the neurodevelopment of the social cognition and social perception abnormalities characteristic of autism.
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PMID:Taking an "intentional stance" on eye-gaze shifts: a functional neuroimaging study of social perception in children. 1602 41

Thirty-one infant siblings of children with autism and 24 comparison infants were tested at 6 months of age during social interaction with a caregiver, using a modified Still Face paradigm conducted via a closed-circuit TV-video system. In the Still Face paradigm, the mother interacts with the infant, then freezes and displays a neutral, expressionless face, then resumes interaction. Eye tracking data on infant visual fixation patterns were recorded during the three episodes of the experiment. Using a hierarchical cluster analysis, we identified a subgroup of infants demonstrating diminished gaze to the mother's eyes relative to her mouth during the Still Face episode. Ten out of the 11 infants in this subgroup had an older sibling with autism.
J Autism Dev Disord 2007 Jan
PMID:Visual Fixation Patterns during Reciprocal Social Interaction Distinguish a Subgroup of 6-Month-Old Infants At-Risk for Autism from Comparison Infants. 1719 Oct 96

The Pre-Elementary Education Longitudinal Study (PEELS) examines the preschool and early elementary school experiences of a nationally representative sample of 3,104 children ages 3-5 with disabilities from 2004 through 2009. This paper describes the special education and related services received by a subsample of 186 preschoolers with autism spectrum disorders (ASD) in 2003-2004 and parental satisfaction with those services. Past research and patterns of litigation suggest that parents of children with ASD are not wholly satisfied with the special education and related services their children receive. In the current study, the authors found many similarities between children with ASD and children with other disabilities in the type of services received under IDEA and in parent satisfaction with these services. Still, some significant differences emerged in the number of services received, the amount of time children with ASD spent in special education settings, and parent satisfaction with the amount of time children spent with typically developing peers. Implications about the importance of parent satisfaction and social validity measures are discussed.
J Autism Dev Disord 2008 Sep
PMID:A national sample of preschoolers with autism spectrum disorders: special education services and parent satisfaction. 1822 22

Children with autism spectrum disorders (ASDs) are impaired in visually disengaging attention in both social and non-social contexts. These impairments may, in subtler form, also affect the infant siblings of children with ASD (ASD-sibs). We investigated patterns of visual attention (gazing) in 6-month-old ASD-sibs (n=17) and the siblings of typically developing children (COMP-sibs: n=17) during the Face-to-Face/Still-Face Protocol (FFSF), in which parents are sequentially responsive, non-responsive, and responsive to their infants. Throughout the protocol, ASD-sibs shifted their gaze to and from their parents' faces less frequently than did COMP-sibs. The mean durations of ASD-sibs' gazes away from their parents' faces were longer than those of COMP-sibs. ASD-sibs and COMP-sibs did not differ in the mean durations of gazes at their parents' faces. In sum, ASD-sibs showed no deficits in visual interest to their parents' faces, but greater interest than COMP-sibs in non-face stimuli.
Autism 2008 Sep
PMID:Visual disengagement in the infant siblings of children with an autism spectrum disorder (ASD). 1880 43

This study investigated a novel approach to obtaining data on parent and infant emotion during the Face-to-Face/Still-Face paradigm, and examined these data in light of previous findings regarding early autism risk. One-hundred and eighty eight non-expert students rated 38 parents and infant siblings of children who did (20) or did not (18) have autism spectrum disorders. Ratings averaged across 10 non-experts exhibited high concordance with expert facial-action codes for infant emotion, and 20 non-experts were required for reliable parent ratings. Findings replicated the well-established still-face effect and identified subtle risk associations consonant with results from previous investigations. The unique information offered by intuitive non-expert ratings is discussed as an alternative to complex and costly behavioral coding systems.
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PMID:Non-Expert Ratings of Infant and Parent Emotion: Concordance with Expert Coding and Relevance to Early Autism Risk. 2043 47

Interpersonal factors play significant roles in the onset, maintenance, and remission of psychiatric conditions. In the current major diagnostic classification systems for psychiatric disorders, some conditions are defined by the presence of impairments in social interaction or maintaining interpersonal relationships; these include autism, social phobia, and the personality disorders. Other psychopathologies confer significant difficulties in the social domain, including major depression, posttraumatic stress disorder, and psychotic disorders. Still other mental health conditions, including substance abuse and eating disorders, seem to be exacerbated or triggered in part by the influence of social peers. For each of these and other psychiatric conditions, the extent and quality of social support is a strong determinant of outcome such that high social support predicts symptom improvement and remission. Despite the central role of interpersonal factors in psychiatric illness, the neurobiology of social impairments remains largely unexplored, in part due to difficulties eliciting and quantifying interpersonal processes in a parametric manner. Recent advances in functional neuroimaging, combined with multiplayer exchange games drawn from behavioral economics, and computational/quantitative approaches more generally, provide a fitting paradigm within which to study interpersonal function and dysfunction in psychiatric conditions. In this review, we outline the importance of interpersonal factors in psychiatric illness and discuss ways in which neuroeconomics provides a tractable framework within which to examine the neurobiology of social dysfunction.
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PMID:Understanding interpersonal function in psychiatric illness through multiplayer economic games. 2257 10

Most patients with tuberous sclerosis complex (TSC) suffer from epilepsy, and many have cognitive and behavioral problems like severe intellectual disability, autism, and hyperactivity. Only rare patients with TSC and autism have a normal intelligence quotient. We report a 13-year-old girl with definite TSC who had early-onset severe epilepsy, autistic behavior, and moderate developmental delay. By school age, however, she had normal intelligence; her intelligence quotient was at least 70 based on a Stanford-Binet test that she refused to complete. She showed good reading, writing, and language comprehension skills, and the special abilities of hyperlexia, hypermnesia, and hypercalculia. However, she did not speak. Criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, and her Childhood Autism Rating Scale score of 36 indicated mild to moderate autism. She had severe electroencephalographic abnormalities: hypsarrhythmia, multifocal or generalized epileptiform discharges, and electrical status epilepticus during sleep, with a continuous left temporal focus. Magnetic resonance imaging showed many cortical tubers in all brain lobes, and subependymal nodules. We discuss possible explanations for her lack of speech. Considered as speech apraxia, her mutism could be either a symptom of her TSC or a component of her autism. Another possibility is that long-lasting electrical status epilepticus during sleep led to her autistic behavior and language arrest. Still another possibility is that a disinhibited mammalian target of rapamycin (mTOR) pathway was at the root of all of her neuropsychiatric symptoms.
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PMID:A girl with tuberous sclerosis complex presenting with severe epilepsy and electrical status epilepticus during sleep, and with high-functioning autism and mutism. 2496 9

Autism spectrum disorder and schizophrenia share a substantial number of etiologic and phenotypic characteristics. Still, no direct comparison of both disorders has been performed to identify differences and commonalities in brain structure. In this voxel based morphometry study, 34 patients with autism spectrum disorder, 21 patients with schizophrenia and 26 typically developed control subjects were included to identify global and regional brain volume alterations. No global gray matter or white matter differences were found between groups. In regional data, patients with autism spectrum disorder compared to typically developed control subjects showed smaller gray matter volume in the amygdala, insula, and anterior medial prefrontal cortex. Compared to patients with schizophrenia, patients with autism spectrum disorder displayed smaller gray matter volume in the left insula. Disorder specific positive correlations were found between mentalizing ability and left amygdala volume in autism spectrum disorder, and hallucinatory behavior and insula volume in schizophrenia. Results suggest the involvement of social brain areas in both disorders. Further studies are needed to replicate these findings and to quantify the amount of distinct and overlapping neural correlates in autism spectrum disorder and schizophrenia.
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PMID:Structural alterations of the social brain: a comparison between schizophrenia and autism. 2518


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