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

Fifty-seven individuals with severe and profound mental retardation (18 with a DSM-IV diagnosis of depression, 19 with a Diagnostic Statistical Manual, 4th edition diagnosis of autism, and 20 who meet no criteria for an emotional disorder) were studied. The validity of the Diagnostic Assessment for the Severely Handicapped II depression subscale was evaluated to determine its value in categorizing individuals in these two groups. Suggestions were made for diagnosing depression in persons with severe and profound mental retardation. In a second study the above individuals were compared on symptomology to assess comorbidity with related symptoms. These "core," peripheral, or associated features of depression were identified. Implications of the findings for describing and defining depression in these persons are discussed.
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PMID:Characteristics of depression as assessed by the Diagnostic Assessment for the Severely Handicapped-II (DASH-II). 1042 58

We examined the social skills of adults with autism, PDDNOS, and mental retardation. All participants were diagnosed with profound mental retardation. Participants in the autism and PDDNOS groups had been previously diagnosed using the Childhood Autism Rating Scale (CARS) and record review. These diagnoses were confirmed by readministering the CARS by one author and an independent rater. Social skills were assessed by using the Vineland Adaptive Behavior Scales and the Matson Evaluation of Social Skills in the Severely Retarded. Significant differences between the autism and mental retardation groups were found on both measures. The PDDNOS group demonstrated better positive nonverbal social skills than the autism group but not the mental retardation group. Special treatment needs of institutionalized adults with autism appear warranted along with a need to clarify further the differences between PDDNOS and mental retardation.
J Autism Dev Disord 1999 Aug
PMID:A comparison of social skills in adults with autistic disorder, pervasive developmental disorder not otherwise specified, and mental retardation. 1047 28

Smith-Lemli-Opitz syndrome (SLOS, RSH/SLO syndrome, MIM 270400) is an autosomal recessive multiple malformation/mental retardation syndrome initially described by Smith et al. [1964] that is due to a defect in cholesterol biosynthesis. The behavioral phenotype of Smith-Lemli-Opitz syndrome demonstrates cognitive abilities from borderline intellectual functioning to profound mental retardation, sensory hyperreactivity, irritability, language impairment, sleep cycle disturbance, self-injurious behavior, and autism spectrum behaviors. In a recent study of 28 subjects, 14 subjects (50%) with SLOS also exhibited the behavior of throwing themselves backward in a characteristic upper body movement ("opisthokinesis") and 2 adolescents had a stretching motion of the upper body accompanied by hand flicking [Tierney et al., 1999]. In that same study, 6 of 13 subjects (46%) met the Autism Diagnostic Interview-Revised (ADI-R) algorithm criteria (Lord et al. [1993] Infant Mental Health 14:234-252; Lord et al. [1994] J Autism Dev Disord 24:659-685) and the Diagnostic and Statistical Manual (APA [1994] DSM-IV) diagnostic criteria for autistic disorder. Smith-Lemli-Opitz syndrome is a metabolic disorder that is associated with autism. MRDD Research Reviews 2000;6:131-134.
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PMID:Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. 1089 6

Atypical antipsychotic medications for self-injurious behavior (SIB), aggression, and destruction among people with mental retardation and development disabilities are becoming increasingly accepted. Most studies are on risperidone and fewer have been conducted on clozapine. The present single-blind study reports marked reductions in SIB and aggression of two persons with profound mental retardation who were nonresponsive to all other behavioral and psychopharmacological interventions, including risperidone. The most effective dose was 200 mg/day. Side effects were mild and the drug was tolerated well.
J Autism Dev Disord 2001 Feb
PMID:Brief report: effects of clozapine on self-injurious behavior of two risperidone nonresponders with mental retardation. 1143 49

Despite considerable interest in Rett syndrome, there have been few studies of associated behavioral and emotional problems. In the present study, 143 girls with Rett syndrome were compared on the Developmental Behavior Checklist with 85 girls with severe to profound mental retardation of mixed etiologies. After controlling for the effects of physical disabilities, we found that the girls with Rett syndrome presented more "autistic-relating" and fewer antisocial behaviors. A subsample of children with autism was also compared to the girls with Rett syndrome on autistic-relating behaviors, revealing that the Rett syndrome group did not present with classic autistic behavioral features The implications of these results for the identification of a Rett syndrome behavioral phenotype are discussed.
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PMID:Towards a behavioral phenotype for Rett syndrome. 1247 62

It has long been recognized that there is phenotypic overlap between Rett syndrome (RS) and autism. Advances in our clinical and genetic understanding of RS over the past decade have made clear that the cause and course of RS and autism are distinct (except perhaps in a few cases). Despite this, further delineation of the phenotypic overlap between RS and autism is warranted to enhance clinical decision-making and to further understanding of neuropathological development in both disorders. The present study measured autistic symptoms using the Autism Behavior Checklist (ABC) in a sample of girls with RS and a comparison group of girls with severe and profound mental retardation (SMR). Controlling for developmental level and motor ability, girls with RS scored more highly than those with SMR on the Sensory and Relating subscales. In contrast, there were no group differences on the Body and Object use, Language and Social and Self-help subscales. Further work on the characterisation of the behavioral phenotype of genetic disorders such as RS and autism may aid in identifying the neuropathogenic processes that lead from gene-to-brain-to-behavior.
J Autism Dev Disord 2003 Aug
PMID:Features of autism in Rett syndrome and severe mental retardation. 1295 22

Autism is a neurodevelopmental disorder of genetic origins, with a heritability of about 90%. Autistic disorder is classed within the broad domain of pervasive developmental disorders (PDD) that also includes Rett syndrome, childhood disintegrative disorder, Asperger syndrome, and PDD not otherwise specified (PDD-NOS). Prevalence estimates suggest a rate of 0.1-0.2% for autism and 0.6% for the range of PDD disorders. There is considerable phenotypic heterogeneity within this class of disorders as well as continued debate regarding their clinical boundaries. Autism is the prototypical PDD, and is characterized by impairments in three core domains: social interaction, language development, and patterns of behavior (restricted and stereotyped). Clinical pattern and severity of impairment vary along these dimensions, and the level of cognitive functioning of individuals with autism spans the entire range, from profound mental retardation to superior intellect. There is no single biological or clinical marker for autism, nor is it expected that a single gene is responsible for its expression; as many as 15+ genes may be involved. However, environmental influences are also important, as concordance in monozygotic twins is less than 100% and the phenotypic expression of the disorder varies widely, even within monozygotic twins. Multiple susceptibility factors are being explored using varied methodologies, including genome-wide linkage studies, and family- and case-control candidate gene association studies. This paper reviews what is currently known about the genetic and environmental risk factors, neuropathology, and psychopharmacology of autism. Discussion of genetic factors focuses on the findings from linkage and association studies, the results of which have implicated the involvement of nearly every chromosome in the human genome. However, the most consistently replicated linkage findings have been on chromosome 7q, 2q, and 15q. The positive associations from candidate gene studies are largely unreplicated, with the possible exceptions of the GABRB3 and serotonin transporter genes. No single region of the brain or pathophysiological mechanism has yet been identified as being associated with autism. Postmortem findings, animal models, and neuroimaging studies have focused on the cerebellum, frontal cortex, hippocampus, and especially the amygdala. The cerebello-thalamo-cortical circuit may also be influential in autism. There is evidence that overall brain size is increased in some individuals with autism. Presently there are no drugs that produce major improvements in the core social or pragmatic language deficits in autism, although several have limited effects on associated behavioral features. The application of new techniques in autism research is being proposed, including the investigation of abnormal regulation of gene expression, proteomics, and the use of MRI and postmortem analysis of the brain.
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PMID:What is known about autism: genes, brain, and behavior. 1581 71

The Autism Diagnostic Observational Schedule (ADOS) is a semi-structured observational scale developed to assess social interaction, communication and play in individuals who are suspected to have autism. Since the ADOS is not suitable to be used with severely or profoundly mentally retarded adolescents and adults with very limited language skills, materials and some of the tasks of the PL-ADOS and the original ADOS (the former versions of the current ADOS) were adapted. Results indicated that almost all of the overall ratings showed good reliability and discriminative diagnostic validity. Furthermore, the combination of codings into an overall algorithm score on social/communicative behavior resulted in a sensitivity of .82 and a specificity of .85 when using a cut-off score of 15.
J Autism Dev Disord 2005 Dec
PMID:Pre-linguistic Autism Diagnostic Observation Schedule adapted for older individuals with severe to profound mental retardation: a pilot study. 1628 83

The objective of this article is to describe autistic spectrum disorders in children diagnosed with infantile spasms in the first year of life. The source of data was the records of all 3 pediatric departments in Iceland. Twenty children born between 1981 and 1998 who had infantile spasms were invited to participate. When appropriate, the parents of these children were asked to complete the Social Communication Questionnaire. Children scoring 10 points or higher on the questionnaire were selected for further examination using the Autism Diagnostic Interview- Revised and either the Autism Diagnostic Observation Schedule or the Childhood Autism Rating Scale. All participants were given appropriate cognitive tests or measures of adaptive behavior. The parents of 17 children (10 boys, 7 girls) agreed to participate in the study. Age at assessment ranged from 5 to 19 years with a mean age of 11 years and 6 months. Fourteen children had at least one neurodevelopmental disorder. Six (6/17), or 35.3%, were diagnosed with autism spectrum disorder (3 boys, 3 girls), five of these had a history of symptomatic infantile spasms, and four were profoundly mentally retarded (IQ/DQ<20). If the diagnosis of autism spectrum disorder was restricted to children with a developmental age of 24 months or more (3 cases), the prevalence was 17.6%. The estimates found in this study exceed the estimated prevalence of autism spectrum disorder in the general population.
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PMID:Autism spectrum disorders in children with a history of infantile spasms: a population-based study. 1789 Apr 8

The present study examined whether Snoezelen and Stimulus Preference environments have differential effects on disruptive and pro-social behaviors in adults with profound mental retardation and autism. In N=27 adults these target behaviors were recorded for a total of 20 sessions using both multi-sensory rooms. Three comparison groups were created by diagnosis and motor respective linguistic abilities. Each client was exposed to only one multi-sensory room. Results showed that Snoezelen intervention decreased disruptive behaviors only in individuals with autism, while Stimulus Preference increased pro-social behaviors only in participants with profound mental retardation with co-occurring poor motor and linguistic abilities. Furthermore, several trend analyses of the improved behaviors were conducted throughout all sessions toward short and mid term effects of the multi-sensory room applications. These findings support both the prudence of using the Snoezelen room in individuals with developmental disabilities and the importance of using a Stimulus Preference assessment in multi-sensory environments in clients with profound mental retardation.
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PMID:Multi-sensory rooms: comparing effects of the Snoezelen and the Stimulus Preference environment on the behavior of adults with profound mental retardation. 1981 73


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