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

Williams syndrome (WS) is a rare (2-5/100,000) genetic human disorder characterised by a typical facies and mental retardation with a deficit in the visuospatial cognitive function and a relative preservation of linguistic abilities in general, and spoken language in particular. This syndrome also includes morphological anomalies, metabolic functional impairments, and likely deficits in the pattern of brain ontogenesis. The genetic basis of WS, recently identified, are presented. A cognitive profile of the WS individuals is defined and compared to Down syndrome (DS) and autism cognitive profiles. Neuroanatomical features of WS, including a reduction in brain volume, preservation of cerebellum and frontal lobes, and a reduction of posterior cortical systems, are described. The possible role of NGF (nerve growth factor)--a neurotrophin involved in the development of brain cholinergic systems and the associated behavioural functions--in the aetiology of the typical mental retardation of WS patients, is critically discussed. Future research avenues, including the identification of potential neurobiological markers in order to precociously diagnose this syndrome, are reviewed.
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PMID:[Williams syndrome]. 1064 54

Factors influencing the rate, form, and severity of phenotypic expression among relatives of autistic probands are examined. Family history data on 3095 first- and second-degree relatives and cousins from 149 families with a child with autism and 36 families with a child with Down syndrome are studied. The results provide further evidence of an increased risk among autism relatives for the broadly defined autism phenotype. Of proband characteristics, severity of autism and obstetric optimality were confirmed as being related to familial loading for probands with speech. There was little variation in loading among probands lacking speech. The type of phenotypic profile reported in relatives appeared little influenced by characteristics of the relative or the proband, except for variation by degree of relative, parental status of relative, and perhaps proband's birth optimality score. Phenotypic rates among parents suggested reduced fitness for the severest and more communication-related forms of expression but not for the more mild and social forms of expression. Patterns of expression within the families did not support a simple X-linked nor an imprinted X-linked mode of inheritance. The basis for sex differences in rates of expression is discussed.
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PMID:Variable expression of the autism broader phenotype: findings from extended pedigrees. 1083 79

Children with severe developmental delays (three with Down syndrome and three with autism as the primary diagnosis) observed a videotaped model performing two basic dressing skills without prompting, verbal or otherwise, or explanation by an instructor. In a within-subjects design, dressing skills that were presented at a relatively slow presentation speed through videotaped modelling were eventually performed better than those presented at a relatively fast speed. These data in combination with evidence from this laboratory that passive modelling of basic skills is more effective than interactive modelling (e.g., Biederman, Fairhall, Raven, & Davey, 1998; Biederman, Davey, Ryder, & Franchi, 1994; Biederman, Ryder, Davey, & Gibson, 1991) suggest that standard instructional techniques warrant reexamination both from the basis of instructional effectiveness and the efficient use of the allotment of teacher time.
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PMID:Observational learning in children with Down syndrome and developmental delays: the effect of presentation speed in videotaped modelling. 1089 Feb 43

Several recent reports have described the occurrence of autism in subjects with Down's syndrome (DS). However, relatively little is known about the family history of these subjects, especially with reference to autism. In order to address this issue, the present author examined 11 subjects with DS and autism (DSM-III-R; nine males), and compared them with seven controls with DS but without autism (DSM-III-R; three males). Details about family psychiatric history were obtained from both groups with an emphasis on autism and related disorders. Subjects with both DS and autism had an excess of first-degree relatives who met the description of the broader phenotype of autism. Seven (64%) of the subjects with autism had an affected parent as against one (14%) of the control group. Similarly, four out of 11 siblings (36%) in the DS with autism group showed features suggestive of the broader autistic phenotype compared to none in the control group. These findings suggest that, at least in some cases, autism-specific genetic factors may be important even when autism occurs in the presence of known medical conditions. Further studies of the mechanism of comorbidity of autism with medical conditions may help clarify the aetiology of the disorder.
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PMID:Autism in Down's syndrome: a family history study. 1107 53

Individuals with autism have difficulty integrating information and generalizing previously learned concepts to new situations. It was hypothesized that these problems result from an underlying impairment in category formation. Persons with autism may not abstract a summary representation (a prototype) during category learning and, instead, may form categories by memorizing a list of rules. Children with autism, Down syndrome, and normal development participated in one set of category learning tasks that could be solved using a rule-based approach and a second set of tasks in which there was no rule that defined category membership (prototype tasks). In the rule-based tasks, all groups were successful at using a rule to learn a new category. In the prototype tasks, only the typically developing children were able to learn a new category. Neither the persons with autism nor the persons with Down syndrome appeared to develop a prototype during category learning. These data suggest that persons with autism and Down syndrome have difficulty categorizing new information by forming prototypes and, instead, tend to rely on a rule-based approach to learning.
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PMID:Prototype formation in autism. 1134 46

There has been little exploration of major biologic regulators of cerebral development in autism. In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). Neonatal concentrations of VIP, CGRP, BDNF, and NT4/5 were higher (ANOVA, all p values < 0.0001 by Scheffe test for pairwise differences) in children in the autistic spectrum and in those with mental retardation without autism than in control children. In 99% of children with autism and 97% with mental retardation, levels of at least one of these substances exceeded those of all control children. Concentrations were similar in subgroups of the autistic spectrum (core syndrome with or without mental retardation, other autistic spectrum disorders with or without mental retardation) and in the presence or absence of a history of regression. Among children with mental retardation, concentrations did not differ by severity or known cause (n = 11, including 4 with Down syndrome). Concentrations of measured substances were similar in children with CP as compared with control subjects. SP, PACAP, NGF, and NT3 were not different by diagnostic group. No measured analyte distinguished children with autism from children with mental retardation alone. In autism and in a heterogeneous group of disorders of cognitive function, overexpression of certain neuropeptides and neurotrophins was observed in peripheral blood drawn in the first days of life.
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PMID:Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 1135 50

The behavior of parents, adult caregivers, and peers comprises the critical features of community support for the development of communication in young children with developmental disabilities. In a bio-ecological model of development, communication development is the result of the interactions of individuals with specific characteristics, in particular contexts over time. From the perspective of this model, foundational findings of intervention research to current views of communication development in children with developmental disabilities are summarized. The contributions of individual child characteristics to child-caregiver interactions that support language development are illustrated based on research with children who have autism, Williams syndrome, Down syndrome, and children who use augmentative communication systems. Parent-child interaction and the quality and quantity of parent talk are discussed as factors in children's language development. The effects of young children's delayed language on their interactions with peers, the contributions of peers to children's language learning and use, and the critical features of classroom settings that support child language development are reviewed. MRDD Research Reviews 7:143-150, 2001.
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PMID:Supporting communication in young children with developmental disabilities. 1138 70

Research evidence indicates that children with autism may experience problems with functional play, in addition to their well-documented deficits in symbolic play. However, as a result of the tendency of previous studies to group all functional play into a single category, the precise nature and extent of this deficit remains unclear. The present study undertook a more refined analysis of such play, subtyping the functional acts into various categories, in terms of the developmental progression suggested by research with typical infants. The functional play of children with autism was compared to that of developmentally matched children with Down syndrome and typical infants. Although there were no group differences in overall measures of the proportion of total play time spent in functional play and in the number of functional acts performed, a closer analysis of the composition of this play did reveal striking, qualitative differences. The functional play of the autism group was less elaborated, less varied, and less integrated than that of the controls. The implications of these findings are explored in relation to current theoretical models of autism and in relation to the role of other people in mediating the appropriate use of objects.
J Autism Dev Disord 2001 Feb
PMID:Taking a closer look at functional play in children with autism. 1143 56

We sought to determine if the family loading for either the broader autism phenotype or for cognitive impairment differed according to whether or not autism was accompanied by severe mental retardation. The sample comprised 47 probands with autism meeting ICD-10 criteria, as assessed by the Autism Diagnostic Interview and the Autism Diagnostic Observation Schedule. Family history interview and findings were compared with those for the higher IQ autism and Down syndrome samples in the Bolton et al. (1994) study. The familial loading for autism and for the broader phenotype was closely comparable to that in the study of higher IQ autism, and different from that for Down syndrome. The family loading for scholastic achievement difficulties was slightly, but significantly, higher when autism was accompanied by severe retardation.
J Autism Dev Disord 2001 Feb
PMID:A family genetic study of autism associated with profound mental retardation. 1143 58

The paper provides clinical and catamnestic descriptions of 240 children with infantile autism; 160 with atypical autism (of them 100 had schizophrenic attacks, 60 presented with mental retardation concurrent with atypical autism (in phenylketonuria, tuberose sclerosis, Down syndrome, Martin-Bell syndrome), 20 with Asperger's syndrome, 60 with Rett's syndrome, 20 with psychogenic paraautism according the Nissen classification. The similarity of autism-like disorders and atypical autism was considered. Syndromal verifications in accordance with ICD-10 (1994) and ICD-10 (1999) in Russian versions and clinical nosological verifications adopted in Russia were studied in all the examinees. New approaches to treating patients with autistic disorders were developed.
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PMID:[Current approaches to the problem of autism in childhood]. 1152 31


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