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

We present the clinical and laboratory findings in an institutionalised adult patient originally referred for autism. A high risk of colorectal cancer was predicted when an interstitial deletion of the long arm of chromosome 5, del(5)(q15q22.3), was detected in her lymphocytes and deletion of the MCC and APC genes confirmed by molecular analysis. Adenomatous polyposis coli and carcinoma of the rectum were subsequently diagnosed in the patient. She was profoundly mentally retarded, autistic, and had minor dysmorphic features consistent with those of previous patients with similar deletions. The deletion arose as a result of recombination within the small insertion loop formed at meiosis by the direct insertion (dir ins(5)(q22.3q14.2q15)) found in the patient's mother. This family further confirms the cytogenetic mapping of both MCC and APC genes to 5q22 and comparison with other recent cases suggests that both genes and their closely linked markers lie within the 5q22.1 subband.
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PMID:Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. 807 57

There is general agreement that autism has an organic basis but there is less agreement on the frequency with which it is associated with known medical conditions. The evidence in the literature on the latter point is reviewed and it is concluded that the rate of known medical conditions in autism is probably about 10%; however the rate appears to be higher in cases of autism associated with profound mental retardation and in cases of atypical autism.
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PMID:Autism and known medical conditions: myth and substance. 818 1

A quasi-experimental message-passing procedure was used to assess the validity of the facilitated communication (FC) by people with autism and mental retardation or with mental retardation. The 23 participants were classified as having intellectual skills within the range of severe to profound mental retardation. Message-passing consisted of showing and verbally labeling a picture of a familiar object with the facilitator absent, and subsequent facilitation to generate a label or description of the object. Three-trial blocks were conducted with each participant on two different days. Blocks were conducted in the participants' normal FC setting, with their facilitators of choice, and no special apparatus was used. No participant was able to accurately label or describe the object shown to them with facilitation. Possible reasons for findings set forth by proponents of FC and findings from the emerging quantitative literature on FC are considered.
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PMID:Evaluating facilitated communications of people with developmental disabilities. 821 Jun 3

The present study involved 1245 individuals with severe and profound mental retardation. Individuals with and without autistic features as assessed by the DASH-II were compared on demographic variables and symptomatology. The core and associated features of autism in severely and profoundly mentally retarded population were identified. Characteristics of persons with autistic disorders are reviewed, and the implications of the results are discussed.
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PMID:Characteristics of autism as assessed by the Diagnostic Assessment for the Severely Handicapped-II (DASH-II). 877 35

The behavior of 4 adolescents with severe or profound mental retardation was evaluated in the presence of four sets of materials during periods of unstructured leisure activity. Functional engagement with the materials, stereotypic engagement with the materials, stereotypy without interaction with the materials, and other aberrant behaviors were recorded. Across a series of experimental conditions, the number of sets of materials was reduced from four to one by eliminating the set most frequently manipulated in each preceeding condition. In the final condition, four sets of materials were again made available for manipulation. The procedures replicated Green and Striefel's (1988) response-restriction analysis of the activity preferences and play behaviors of children with autism. In general, the results of the present experiment replicate those of Green and Striefel in that reallocation of responding was idiosyncratic and unpredictable as sets of materials were removed. Nevertheless, the results provided insight into how responding might be reallocated if it were restricted through behavioral interventions rather than by restriction of access. Thus, the results are discussed with respect to how response-restriction analyses may be useful in identifying topographies of behavior that could be included in differential reinforcement contigencies that are designed to affect stereotypic behavior and in the selection and arrangement of environmental stimuli to minimize the presence of evokers of stereotypy.
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PMID:A response-restriction analysis of stereotypy in adolescents with mental retardation: implications for applied behavior analysis. 931 61

This review assesses the usefulness of beta-blockers in the treatment of aggression and describes the parameters for their clinical use. A Medline search using the terms "beta-blockers," "aggression," "propranolol," and "brain injury" identified relevant journal articles published in English between 1977 and 1993. Open, prospective and double-blind, placebo-controlled studies, as well as case reports, were included. Beta-blockers appear to be effective in decreasing the frequency and intensity of aggressive outbursts associated with a wide variety of conditions, such as dementias, attention-deficit disorder, personality disorders, Korsakoff's psychosis, posttraumatic stress disorder, schizophrenia, profound mental retardation, autism, and brain injury. A general discussion attempts to resolve some of the issues surrounding the possible mechanisms of beta-blocker effects, reviews the anatomic and neurochemical bases of aggression, and explores implications of the clinical use of beta-blockers.
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PMID:Beta-blockers and the treatment of aggression. 938 11

The first experiment involved 143 individuals with severe and profound mental retardation. Individuals with Stereotypic Movement Disorder, Self-Injurious Behavior (SIB), and Stereotypic movement disorder with self-injurious behavior as assessed by the Diagnostic Assessment for the Severely Handicapped-II DASH-II were validated against Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV; American Psychiatric Association, 1994) criteria. In a second study DASH-II scores for 1480 individuals with severe and profound mental retardation were compared on demographic variables, core and associated features of each disorder. Characteristics of persons in each group were reviewed. Persons with profound mental retardation were more likely to evince stereotypies or self-injury compared to their severely impaired counterparts. Also, those with stereotypies were more likely to present with Pervasive Developmental Disorder (PDD)/autism, organicity, and eating disorders, while persons with SIB were more likely to evince sleep, sexual, and eating disorders.
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PMID:Characteristics of stereotypic movement disorder and self-injurious behavior assessed with the Diagnostic Assessment for the Severely Handicapped (DASH-II). 940 28

This study was designed to establish the empirical validity of the Diagnostic Assessment for the Severely Handicapped-II (DASH-II) to screen for the presence of autism in severely and profoundly mentally retarded adults. Participants included 51 individuals residing in a large developmental center in Central Louisiana. The Autism/Pervasive Developmental Disorder subscale of the DASH-II was internally consistent. Additionally, the DASH-II was just as likely as the Childhood Autism Rating Scale (CARS) to classify autistic and control individuals. Specific items on the subscale were examined to identify those items most associated with a diagnosis of autism.
J Autism Dev Disord 1998 Feb
PMID:Validity of the Autism/Pervasive Developmental Disorder subscale of the Diagnostic Assessment for the Severely Handicapped-II. 954 5

Risperidone has proven efficacy with reduced likelihood of causing extrapyramidal symptoms in the treatment of schizophrenia. Initial work suggests its utility in the management of aggression and self injury in patients with mental retardation. The use of risperidone in eight adult patients with moderate to profound mental retardation is described. Risperidone in these individuals was associated with significant reduction in aggression and self injurious behavior. Side effects were primarily those of sedation and restlessness. These cases illustrate the possible utility of risperidone in the treatment of aggression and self injury in adult patients with moderate to profound mental retardation.
J Autism Dev Disord 1998 Jun
PMID:Risperidone for aggression and self-injurious behavior in adults with mental retardation. 965 34

Paternal or maternal deletions in the 15q11.2-q13 region are known to result in Prader-Willi syndrome (PWS) or Angelman syndrome (AS), respectively. Maternal duplications in 15q11.2-q13 have been found in patients with autism. A population of adults with moderate to profound mental retardation was studied to examine the usefulness of PCR based molecular methods in screening for proximal chromosome 15 abnormalities. Two hundred and eighty-five subjects were initially screened at five microsatellite markers with average heterozygosity values of 0.74 (range 0.54-0.82). Of these subjects, four had a single allele at all five loci, suggestive of a deletion or uniparental isodisomy. The four samples were further screened with additional markers located within 15q11.2-q13 as well as markers telomeric to this region. One subject had uniparental disomy (UPD) and three subjects had a deletion. To determine the parental origin of the 15q11-q13 region containing the single haplotype, samples were analysed with a newly developed methylation specific PCR technique at the SNRPN locus. Each of the four subjects showed presence of the paternal allele and absence of the maternal allele. All cases had a phenotype consistent with Angelman syndrome as expected for the level of mental retardation, but the subject with UPD was distinct from the other subjects with an absence of a history of seizures and presence of bilateral undescended testes and Parkinsonism. Although Angelman syndrome has an estimated population prevalence of 0.008%, at least 1.4% of the moderately to profoundly mentally retarded subjects screened were found to have Angelman syndrome.
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PMID:Molecular screening for proximal 15q abnormalities in a mentally retarded population. 967 96


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