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

The utility of a subtest of 14 items from the Children's Psychiatric Rating Scale (CPRS) for evaluating psychopathology in autistic children was examined. A series of 180 autistic children, who satisfied the DSM-III criteria for Infantile Autism, Full Syndrome Present, were rated on the CPRS. A series of children with conduct disorder diagnoses were added to provide a contrast group for investigating specificity of behavioral manifestations with regard to autism. Multivariate analysis was used to elucidate major behavioral dimensions, to identify distinct subtypes, and to evaluate discriminant validity of the CPRS behavioral ratings.
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PMID:Behavioral assessment of psychopathology in children: infantile autism. 319 8

Report of an association of Saethre-Chotzen- and fragile X-Syndrome in a 19-years old imbecile with autism and aggressiveness. Both syndromes exhibit symptoms of minimal brain damage and disorders of personality.
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PMID:[Association of Saethre-Chotzen and fra-X syndrome]. 779 21

We describe the existence of the savant syndrome in association with Gilles de la Tourette's Syndrome (GTS). The presentation of savant abilities is typical of that previously described. Similarities between autism, the disorder most characteristically associated with savants, and GTS in terms of obsessionality are noted. Previously reported psychological studies of autistic savants are briefly reviewed and, together with evidence from neuroimaging in GTS, obsessive compulsive disorder (OCD), and autism, used to support a model of the underpinnings of savant skills.
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PMID:An idiot savant calendrical calculator with Gilles de la Tourette syndrome: implications for an understanding of the savant syndrome. 813 4

Eighteen children classified in four diagnostic groups--Infantile Autism, Full Syndrome Present (IA), Infantile Autism, Residual State (IA-R), Hyperkinetic Syndrome (HYPER), and Mental Retardation (MR)--were mutually compared on the basis of their behavior in a free child-adult interaction. An ethological analysis of 80 behavioral elements was performed, aiming at describing this interaction in detail. The analysis demonstrated that the autistic children with full syndrome present stayed closer to the adult and that they were more inclined to decrease the interpersonal distance than the children in the three other groups. Moreover, this group was often engaged in bodily contact with the adult. However, their facial orientation towards the adult was poorly developed, in fact they usually turned away their faces. Visual attention to the adult and manipulated objects was relatively low. Hand and head gestures were rare, but facial expressions occurred very frequently. Speech was seriously impaired, but probably counterbalanced by nonarticulated sounds. Finally, the adult seemed to have modified her behavior on a par with the child she was interacting with. From a behavioral point of view the autistic group with full syndrome present was clearly distinguishable from the three comparison groups, including the group with residual state autism.
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PMID:Behavioral aspects of infantile autism: an ethological description. 925 91

Unstable (CAG)n trinucleotide repeat microsatellites are hypothesized to cause schizophrenia. The (CAG)n microsatellite of dominant spinal cerebellar ataxia type 1 (SCA1) is a candidate schizophrenia gene. Autism results from expansions of (CGG)n and (GAA)n trinucleotide repeat stretches at fragile X syndrome (FRAXA), and the recessive Friedreich's ataxia (FA). Dominant ataxia genes may cause schizophrenia and recessive ataxia genes may cause autism. Syndromes with autism show purine synthesis defects (PSDs) and/or pigmentation defects (PDs). Autism is caused by very lengthy expansions of (CAG)n, (CGG)n and (GAA)n repeats, while schizophrenia results from much smaller (CAG)n and (CGG)n repeat expansions.
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PMID:Expanded (CAG)n, (CGG)n and (GAA)n trinucleotide repeat microsatellites, and mutant purine synthesis and pigmentation genes cause schizophrenia and autism. 979

Thirty-seven pupils attending a special school for children and adolescents with autism were observed for the presence of motor and vocal tics. Subsequent family interviews confirmed the diagnosis of comorbid Gilles de la Tourette's Syndrome (GTS) in three children with autism, giving a minimum prevalence rate of 8.1 %. Family history data also suggested this was heritable. The presence of GTS was not associated with superior intellectual, language, or social development. Results suggest that the rate of GTS in autism may exceed that expected by chance. The limited sample size constrains this conclusion. A large-scale epidemiological study testing this association study would appear merited.
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PMID:The prevalence of Gilles de la Tourette's syndrome in children and adolescents with autism. 1018 3

This study reports on the long-term course of 11 patients (6 girls, 5 boys) with childhood onset schizophrenia (COS, age at onset < 10 years). Patients were examined twice (mean follow-up period 38 years after onset). The premorbid development is assessed in terms of the Modified Premorbid Adjustment Scale (M-PAS) and additionally described by distinct psychopathological categories. The psychopathology at the onset of psychosis and at the second follow-up examination was assessed by categorical application of the Positive and Negative Syndrome Scale (PANSS). The outcome was rated with the Disability Assessment Score (DAS). The course of psychotic episodes and intervals between them is presented according to DSM-IV subtype classifications. Ten of 11 patients presented premorbid developmental peculiarities that were not adequately covered by the M-PAS subscales. Whereas in the 4 patients with acute onset of psychosis the positive PANSS-type was predominant, in the 7 patients with an insidious onset the negative PANSS-type prevailed. The nature of the diagnostic subtypes varied markedly across the course of the illness. In case of a continuous predominant catatonic symptomatology the outcome was poor. Detailed case descriptions help to illuminate the heterogeneous psychopathology of COS. Various temporary premorbid behavioral peculiarities were precursors of COS. A differentiation between premorbid and prodromal signs proved to be arbitrary. Our results contradict the assumption that COS is characterized only by a negative symptomatology.
J Autism Dev Disord 2000 Feb
PMID:Schizophrenia with onset before the age of eleven: clinical characteristics of onset and course. 1081 18

Cohen syndrome is a rare, genetic, connective-tissue disorder, with the genetic abnormality linked to chromosome 8q22. Its physical features (particular facial characteristics; body, limb, and visual abnormalities; height and weight problems) have been well documented but little is known about the psychological and behavioural development of individuals with the condition. Suggestion of a dual diagnosis of autism in a small minority of individuals led to a more detailed survey of parents belonging to the Cohen Syndrome Support Group, based in the UK. Thirty-three individuals, 18 males and 15 females, aged from 2 to 45 years (mean age 15 years) were involved in the study. Over half of the participants (n=19) showed a pattern of impairments in social and communication skills, together with rigid and stereotyped behaviours or interests that seemed to meet DSM-IV/ICD-10 criteria for autism. 'Autistic-type' problems were as common in females as in males. In almost all cases, parents had noted difficulties in their child before the child reached the age of 1 year. This study suffers from a number of methodological shortcomings including the fact that it was a postal survey, the sample size was small, and no standardized diagnostic or psychometric data were available. However, the incidence of social, communication, and behavioural problems would seem to warrant further research and a larger-scale study is planned in association with an independent investigation of physical and genetic characteristics in the same group of individuals.
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PMID:Autistic features in Cohen syndrome: a preliminary report. 1166 26

Prader Willi Syndrome (PWS) is a neuro-genetic disorder. It has been reported that cases due to paternal deletion 15q11-13 (Del) behave differently to cases due to uniparental disomy (UPD). Comparison of the two forms of PWS has, to date, not included the frequency of autistic behaviours, even though there are reports of an association between maternal duplications of 15q11-13 and autism spectrum disorders (ASD). It was predicted that maternal UPD PWS cases would be more prone to ASD than Del PWS cases due to their duplicated maternally expressed genes. A preliminary test of the hypothesis was conducted using postal and telephone surveys of matched, genetically verified, UPD and Del cases using the Autism Screening Questionnaire (ASQ) and the Vineland Adaptive Behaviour Scales (VABS). As predicted, UPD cases were reported as exhibiting significantly more autistic symptomatology. They also were born to older mothers and were reported on the VABS to have more deficits in motor control problems and fewer adaptive skills in the Daily Living Skills domain. Del cases were reportedly more skilled at jigsaw puzzles. The results lend further support to the notion that abnormality in the expression of maternal imprinted 15q11-13 genes may confer a susceptibility to ASD. They also suggest that there may be cognitive differences between the groups in processing visuo-spatial information.
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PMID:Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders. 1499 31

Sensory functioning has long been considered crucial in the life of people with autistic spectrum disorders (ASD) (Gillberg, C., & Coleman, M. (1992). The Biology of Autistic Syndromes (2nd ed.). London: Mac Keith press.) However, much of the research is methodologically flawed and based on child populations and adults' retrospective accounts (O'Neill, M.C 1995). Sensory-perceptual abnormalities in autism. Psychological Perspectives in Autism-Conference Proceedings 1995 (pp. 55-61). Autism Research Unit, University of Sundarland). Such sensory dysfunction may contribute to poor person/environment fit and subsequent challenging behaviour. This paper presents an assessment tool developed to explore the sensory functioning of adults with ASD.
J Autism Dev Disord 2004 Dec
PMID:Brief report: assessment of sensory abnormalities in people with autistic spectrum disorders. 1567 92


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