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

Childhood disintegrative disorder, also known as Heller syndrome or as disintegrative psychosis, is a relatively uncommon condition which has variably been included in official diagnostic systems. Available evidence regarding the validity of this diagnostic concept, particularly with regard to autism, supports inclusion of the category in DSM-IV. Proposed criteria and narrative description for the disorder are presented.
J Autism Dev Disord 1992 Dec
PMID:Childhood disintegrative disorder: issues for DSM-IV. 148 80

Three cases of fragile X (fra X) have been identified in a systematic survey of 30 boys, aged 3 to 14, with infantile autism or psychotic disorders, associated with mental retardation. Only one of these children exhibited a dysmorphy characterizing the Martin-Bell syndrome. Two fra X cases fulfilled the DSM III criteria for autism; none corresponded to the Kanner's description of infantile autism. The prevalence of fra X among children with psychotic disorders (6%) is much higher than in the general population; however it is close to the prevalence observed in non psychotic mentally retarded patients. Given the inconsistency of the somatic phenotype, the screening should benefit from the recent discovery of abnormal methylation of DNA.
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PMID:[Fragile X chromosome in autism and psychotic disorders in children]. 158 Jul 45

Comparison of 34 fragile X [(fra(X)] male children (age 3-18 years) with 32 IQ- and age-matched, non-fra(X) male control children was conducted using specific DSM-III-R criteria for autism. Statistical analyses supported predictions that fra(X) males show increased dysfunction in peer social play, nonverbal communication (e.g., gaze aversion, gesturing), verbal communication (e.g., rate, volume, word/phrase perseveration), and repetitive motor behaviors (e.g., handflapping, rocking). There was a trend for fra(X) children to show abnormal responsivity to sensory stimuli as well such as oversensitivity to sound and increased mouthing or smelling of objects. The investigation supports the contention that fra(X) males manifest a specific subset of behaviors from the autistic spectrum. Implications for treatment are discussed.
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PMID:Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male children. 160 10

Magnetic resonance imaging measurements were obtained for 12 adults with DSM-III-defined autism and a matched group of 12 normal subjects. No significant differences were found for mean midsagittal areas of pons, fourth ventricle, cerebellar vermis, or vermis lobules. No significant brain abnormalities were observed in either group.
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PMID:Magnetic resonance imaging of the posterior fossa in autistic adults. 848 80

Reliability and validity of three commonly used autism scales, the Autism Behavior Checklist (Krug, Arick, & Almond, 1980), the Real Life Rating Scale (Freeman, Ritvo, Yokota, & Ritvo, 1986), and the Childhood Autism Rating Scale (Schopler, Reichler, & Renner, 1988), were investigated. Data analyses were based on completed protocols for 24 children or adolescents who met DSM-III-R criteria for pervasive developmental disorders. First, to replicate previous findings, interrater reliability of each of the two direct observational scales was assessed. Second, correlations between pairs of the three scales were calculated. Third, diagnostic classifications based on autism scale cutoff scores were compared to classifications based on DSM-III-R criteria. Fourth, relationships between autism scale scores and adaptive behavior scores were investigated. Results and implications for the use of these scales in the assessment of autistic behaviors are discussed.
J Autism Dev Disord 1991 Dec
PMID:A comparison and evaluation of three commonly used autism scales. 177 58

One hundred forty-nine subjects from 18 families with fragile X [fra(X)] syndrome were evaluated for their neuropsychological, psychiatric, and physical characteristics. The 36 fra(X) males had intelligence quotients ranging from less than 20 to 61, which prevented the delineation of a reliable neuropsychological profile. Behaviour fitted DSM-III-R and ADI diagnostic criteria of autism in only 2 subjects, both with very low intelligence level (IQ less than 20). Of 36 heterozygotes (HZ), 22 had an IQ between 20 and 80 and 14 between 81 and 99. The neuropsychological profile of the latter was compared with IQ-age-environment-matched 14 normal females and 14 normal males. Significantly poorer results in HZ were found on immediate digit memory and on Raven's progressive matrices (a visuo-spatial test of logical capabilities). The latter result, in conjunction with those results on the Bender visual-motor gestalt test and on some WAIS subtests, suggests a frequent deficit in spatial capabilities in such subjects. Such results tended to be confirmed by the profiles of the 22 HZ with IQ 20-80. No psychiatric abnormalities were found in HZ, except in one subject with IQ less than 20 which fitted DSM-III-R and ADI criteria for autism. Typical physical manifestations, especially cranio-facial, were more frequently present in the HZ group with lower IQ. Subnormal IQ was probably the most reliable abnormality for the detection of HZ in 49 females at 50% and 25% risk of heterozygosity.
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PMID:Neuropsychological, psychiatric, and physical manifestations in 149 members from 18 fragile X families. 189 79

The study examined 75 autistic individuals who met DSM-III-R criteria for autistic disorder at 5 years of age. Diagnosis was based on information elicited using a standardized interview for autism. Two of 75 (2.7%) autistic subjects expressed the fragile X marker (Xq27.3) in 40% of cells counted and had other affected family members. Two additional subjects expressed the fragile X anomaly at low rates (1%). These rates are compared with those reported in other studies. Methodological differences, which may underlie the varying rates reported across studies, are discussed.
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PMID:The prevalence of fragile X in a sample of autistic individuals diagnosed using a standardized interview. 193 1

Recent reports in the literature have suggested a link between abnormalities of the cerebellar vermis and the behavioral syndrome of autism. Joubert syndrome is an autosomal recessive disorder characterized by partial or complete agenesis of the cerebellar vermis. However, there is little behavioral or psychiatric description of patients with this genetic condition. In this report, the neuropsychiatric characteristics of two children with Joubert syndrome are described in detail. One child met DSM-III-R diagnostic criteria for autistic disorder, while the other displayed autistic features. The female child displayed stereotypic behavior and impairments in social interaction and communication, had a markedly restricted repertoire of interests, and showed distress over changes in the environment. The male child demonstrated perseveration and preoccupation with sounds and textures, but had no abnormalities in social interaction. Although both children showed developmental disabilities, the degree of cognitive delay was significantly less than that described in previous reports of children with Joubert syndrome. This report adds to the growing body of evidence implicating cerebellar involvement in developmental disabilities and autistic behavior.
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PMID:Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis. 837 28

As a developmental disorder, autism presents as a combination of unusually delayed maturational stages constrained by neuropathology that also produces many atypical behaviors. This process was labeled atypical ontogeny. To understand the development of autistic symptoms, it is necessary to consider each behavior in the context of what is normal for the child's nonverbal mental age and then the extent to which the behavior is delayed or atypical, given factors such as degree of delay, function, and frequency of expression. Many symptoms of autism are not unique to autism, and many reflect at least in part the underlying degree of mental retardation present in a large proportion of autistic individuals. Given this, it is important to rate autistic symptoms in the context of the child's mental development in areas of intelligence not specifically affected by the autism (i.e., nonverbal intelligence) in order to be sure that the symptom is characteristic of autism and not just reflective of the degree of mental retardation. In order to do this, the clinician must have a good understanding of the normal milestones in development in each of the areas in which autistic children develop symptoms. Developmental examples of both normal and atypical milestones, as well as a reliable indicator of nonverbal level of development, would help a user of the DSM-IV criteria for autistic disorder make more accurate decisions in reaching a diagnosis. The DSM-III-R criteria for autistic disorder have many other problems, such as lack of certain kinds of reliability and validity, poor specificity, and redundancy. Discussion of these problems is beyond the scope of this article but is presented elsewhere. What have been presented here are recommendations for revising DSM-III-R diagnostic criteria for autistic disorder insofar as there are implications for putting developmental psychopathology into a developmental context.
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PMID:Toward DSM-IV: a developmental approach to autistic disorder. 204 32

A 4-year-old girl presented for a psychiatric evaluation with reported episodes of clumsiness, aggressiveness, lack of relatedness, and temper tantrums. Her evaluation disclosed multiple developmental deficits, including cognitive, affective, and social lags. Given her individual history and her specific constellation of symptoms as well as a familial history indicative of developmental impairment, the child was diagnosed as having pervasive developmental disorder. This diagnosis reflects the expanded nosology for autism, as specified in DSM-III-R. Subsequently, after a genetic evaluation, the child was found to have an organic central nervous system deficit in the form of cerebral gigantism, a neural disorder. The recognition of an organic impairment in this case contributed to an understanding of the pervasive developmental disorder symptomatology and facilitated the formulation of an appropriate therapeutic protocol that addressed both developmental and neurological components.
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PMID:Treatment strategies for a case of concurrent pervasive developmental disorder and cerebral gigantism. 205 90


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