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

First-degree relatives of 26 autistic females and 26 Down's syndrome females were tested on a battery of verbal tasks designed to detect subtle anomalies. No differences were found when comparing parents of the two groups, but there was a significant difference between siblings. This result was accounted for by a lower performance of the brothers of autistic subjects. The verbal scores of the relatives, either parents or siblings, were not related to the IQ of the proband. Findings are discussed in relation to the hypothesis of genetic and/or environmental factors in autism.
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PMID:Verbal skills in relatives of autistic females. 875 29

To understand the implications of suboptimal gene expression in fragile X syndrome -fra(X)-, we sought to define the central nervous abnormalities in fra(X) syndrome to determine if abnormalities in specific brain regions or networks might explain the cognitive and behavioral abnormalities in this syndrome. Cranial and ventricular volumes were measured with quantitative computed tomography (CT), regional cerebral metabolic rates for glucose (rCMRglc) were measured with [18-F]-2-fluoro-2-deoxy-D-glucose (18FDG), and patterns of cognition were determined with neuropsychological testing in ten healthy, male patients with karyotypically proven fra(X) syndrome (age range 20-30 yr). Controls for the CT studies were 20 healthy males (age range 21-37 yr), controls for the PET studies were 9 healthy males (age range 22-31 yr), and controls for the neuropsychological tests were 10 young adult, male Down syndrome (DS) subjects (age range 22-31 yr). The mean mental age of the fra(X) syndrome group was 5.3 yr (range 3.5-7.5 yr; Stanford-Binet Intelligence Scale). Despite comparable levels of mental retardation, the fra(X) subjects showed poorer attention/short term memory in comparison to the DS group. Further, the fra(X) subjects showed a relative strength in verbal compared to visuospatial attention/short term memory. As measured with quantitative CT, 8 fra(X) subjects had a significant (P < 0.05) 12% greater intracranial volume (1,410 +/- 86 cm3) as compared to controls (1,254 +/- 122 cm3). Volumes of the right and left lateral ventricles and the third ventricle did not differ between groups. Seven of eight patients had greater right lateral ventricle volumes than left, as opposed to 9 out of 20 controls (P < 0.05). Global gray matter CMR-glc in nine fra(X) patients was 9.79 +/- 1.28 mg/100 g/minute and did not differ from 8.84 +/- 1.31 mg/100 g/minute in the controls. R/L asymmetry in metabolism of the superior parietal lobe was significantly higher in the patients than controls. A preliminary principal component analysis of metabolic data showed that the fra(X) subjects tended to form a separate subgroup that is characterized by relative elevation of normalized metabolism in the lenticular nucleus, thalamus, and premotor regions. Further, a discriminant function, that reflected rCMRglc interactions of the right lenticular and left premotor regions, distinguished the fra(X) subjects from controls. These regions are part of a major group of functionally and anatomically related brain regions and appear disturbed as well in autism with which fra(X) has distinct behavioral similarities. These results show a cognitive profile in fra(X) syndrome that is distinct from that of Down syndrome, that the larger brains in fragile X syndrome are not accompanied by generalized cerebral cortical atrophy or hypoplasia, and that distinctive alterations in resting regional glucose metabolism, measured with 18 FDG and PET, occur in fra(X) syndrome.
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PMID:Adult fragile X syndrome: neuropsychology, brain anatomy, and metabolism. 882 84

Planned Activities Training (PAT) teaches mothers to plan and structure activities to prevent challenging child behaviors. PAT was evaluated with four mothers of children with developmental disabilities, including autism, Down Syndrome, and ADHD. PAT was used independent of any other behavior management techniques to examine its impact on mother and child behaviors, which were examined in addition to "fidelity" data on the mothers' implementation of PAT techniques. A multiple probe experimental design across two families with a replication across two more families demonstrated that PAT produced marked improvements in mother and child behavior in three generalization settings. In most cases, mothers' use of PAT procedures more than doubled. Three mothers' appropriate behavior increased from 25% to 40%. Improvements in child behavior ranged from 20% to more than 50%. Intervention gains were maintained at 1, 3, and 6 months. These results suggest that PAT is a useful technique for promoting durable generalization of mother child skills.
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PMID:Planned Activities Training for mothers of children with developmental disabilities. Community generalization and follow-up. 887 13

Although the association of autism with Down's syndrome is said to be uncommon, several reports have described the co-occurrence of the two disorders. This report describes three additional cases of Down's syndrome with autism. In all the patients, a history suggestive of the broader phenotype of autism was obtained in parents. This suggests that familial factors specific to autism may play an important role even when autism complicates a known medical condition such as Down's syndrome.
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PMID:Autism in Down's syndrome: family history correlates. 908 64

We examined theory of mind abilities of individuals with autism, mental retardation (MR) of unknown etiology, Down syndrome, and normal children. On false belief and deception tasks, normal children performed better than all clinical groups, while no differences emerged among the clinical groups. The groups with MR performed better than the group with autism on the value task only. For individuals with autism, theory of mind abilities correlated with verbal ability. For individuals with MR nonverbal abilities correlated with deception and false belief scores. Findings are discussed in terms of the specificity of the theory of mind deficit to autism.
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PMID:Theory of mind abilities in individuals with autism, Down syndrome, and mental retardation of unknown etiology: the role of age and intelligence. 911 34

Observed 16 autistic, 16 normal, and 16 Down syndrome children (age 3-6 years during separation and reunion with their mother in a laboratory playroom over three sessions. Children's responses to separation and reunion were assigned to one of five behavioral patterns that were weighted for intensity or level of response. No differences were found between groups in their behavioral responses during separation or reunion. Moreover, children in each group altered their responses according to the environmental setting which was varied over the three sessions. However, the autistic and Down syndrome groups did differ from the normal group in their consistency of behavioral patterns over the three observation sessions; both the former groups showed more individual variation in their separation and reunion patterns indicating that the expression of these patterns may be influenced by their associated developmental delay.
J Autism Dev Disord 1997 Jun
PMID:Autistic children's responses to separation and reunion with their mothers. 922 60

Several studies have suggested that the genetic liability for autism may be expressed in non-autistic relatives of autistic probands, in behavioral characteristics that are milder but qualitatively similar to the defining features of autism. We employ a variety of direct assessment approaches to examine both personality and language in parents ascertained through having two autistic children (multiple-incidence autism parents) and parents of Down syndrome probands. Multiple-incidence autism parents had higher rates of particular personality characteristics (rigidity, aloofness, hypersensitivity to criticism, and anxiousness), speech and pragmatic language deficits, and more limited friendships than parents in the comparison group. The implications of these findings for future genetic studies of autism are discussed.
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PMID:Personality and language characteristics in parents from multiple-incidence autism families. 925 76

Although there has recently been considerable research interest in the difficulties that children with autism have engaging in pretend play, little attention has been paid to the ability of these children to imitate pretend play acts. Furthermore, suggestions that children with Down syndrome have relatively advanced abilities in pretend play have not been accompanied by an examination of their capacity to imitate pretend play. Three groups of children: autistic, Down syndrome, and normally developing were studied for their capacity to imitate single pretend acts and a series of pretend acts that formed scripts. While the children with autism were surprisingly better than the other two groups on the single-scheme task, they demonstrated specific difficulties on the multischeme task. Results are discussed in relation to current theories of autism and the notion of imitation.
J Autism Dev Disord 1997 Aug
PMID:Imitation of pretend play acts by children with autism and Down syndrome. 926 64

Longitudinal videotape recordings of six young children with autism and six age- and language-matched children with Down syndrome in structured play with their mothers at home were coded for the focus of the child's visual attention for four bimonthly visits and for facial affect for two of the four visits. The main finding was that the children with autism showed reduced expression of positive affect in a familiar social context. The autistic group attended to the mother's face and the researchers only about half as much as the Down syndrome group, but these differences did not reach statistical significance. Compared to the Down syndrome group, the autistic group displayed a smaller proportion of their total positive affect toward the mother's face and toward the researcher, but only the latter group difference reached statistical significance. Although limited by the small sample size, these findings suggest that autistic children's known deficits in attention and affective responsiveness to others persist even in structured interactions with a familiar partner in the home.
J Autism Dev Disord 1997 Aug
PMID:An investigation of attention and affect in children with autism and Down syndrome. 926 65

In the context of an epidemiological study of autism in Nova Scotia, subjects were evaluated for minor physical anomalies and physical measurements. Normal control children, children with autism and their siblings, and children with developmental disabilities and their siblings were compared. Posterior rotation of the external ears was found to be a characteristic related to autism specifically, rather than to developmental disabilities in general. Small feet and normal-to-large hands also were observed in the autism group. Children with autism had a significant reduction in interpupillary distance, but not intercanthic distance or head circumference. In contrast, children with other developmental disabilities were notable for general small stature, which affected the hands, feet, eyes, and head size, as well as height. Abnormal ear configuration was the minor malformation most characteristic of the developmental disability group, and the subset of Down syndrome children had single transverse creases of the palm and epicanthic folds that resulted in significantly increased rates of these anomalies in the developmentally disabled controls. Siblings of the two disabled groups were not significantly different from normal controls on any of the measures that characterized children with autism or other developmental disabilities. The results agree with those of several previous studies, which have suggested that abnormalities of the ears are the general category of minor anomalies most associated with autism. Recent evidence regarding the embryological origin of autism suggests that the ear effects may be an important marker of the initiating events that lead to the disorder.
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PMID:Minor malformations and physical measurements in autism: data from Nova Scotia. 926 26


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