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

We hypothesized that the difficulties of the child with autism originate from disorders of organization and regulation of actions according to environmental changes. Autism impoverishes general mental representation skills, which are the basis of symbolic play and the development of communication. Twenty-one children with autism were compared with 14 children with global intellectual impairment and 15 matched typically developing children, on both regulation of play activities and communication development. Regulation of play was very disordered in children with autism, with breaking off, dissociation and instability of actions. However, in directed play their actions were more structured and corresponded to a better developmental level. In addition, dysregulation was associated with delayed, heterogeneous development of communication skills. The results of this study are in line with our hypotheses and emphasize the role of symbolic play in differential diagnosis and the value of therapies based on regulation processes and symbolic play.
Autism 2005 Jul
PMID:Dysregulation of pretend play and communication development in children with autism. 1593 39

Individuals with an autistic spectrum disorder are impaired not only in understanding others' mental states, but also in self-regulation of social-emotional behavior. Therefore, a model of the brain in autism must encompass not only those brain systems that subserve social-cognitive and emotional functioning, but also those that subserve the self-regulation of behavior in response to a changing social environment. We present evidence to support the hypothesis that developmental dysfunction of the orbitofrontal-amygdala circuit of the brain is a critical factor in the development of autism and that some of the characteristic deficits of persons with autism in socio-emotional cognition and behavioral self-regulation are related to early dysfunction of different components of this circuit. A secondary hypothesis posits that the degree of intellectual impairment present in individuals with autism is directly related to the integrity of the dorsolateral prefrontal-hippocampal circuit of the brain. Together, these hypotheses have the potential to help explain the neurodevelopmental basis of some of the primary manifestations of autism as well as the heterogeneity of outcomes.
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PMID:The orbitofrontal-amygdala circuit and self-regulation of social-emotional behavior in autism. 1615 77

Language development in 32 preschool siblings (aged 2-6 years) of children with diagnosed autistic spectrum disorder (ASD) was compared with that of a control group of 28 typical preschool children. Groups were matched by siblings' age, gender, maternal educational level and family income. The mean ages of the siblings group and the control group were 4.2 and 4.4 years. Eight of the siblings had delayed language development, of whom three received a diagnosis of developmental language disorder (DLD) and one of ASD. The sibling with ASD and two of those with DLD were excluded; the remaining 29 siblings and the controls were administered the Stanford-Binet IV. Verbal IQs of siblings were not significantly different from the control group. Siblings of children with ASD associated with intellectual impairment ('mental retardation' (MR) in Thailand) had significantly lower verbal IQ scores than siblings of children with ASD but without MR.
Autism 2007 Mar
PMID:Language development among the siblings of children with autistic spectrum disorder. 1735 15

Fragile X syndrome, the most common inherited cause of intellectual impairment and the most common single gene associated with autism, generally occurs for fragile X mental retardation 1 (FMR1) alleles that exceed 200 CGG repeats (full-mutation range). Currently, there are no unbiased estimates of the number of full-mutation FMR1 alleles in the general population; a major obstacle is the lack of an effective screening tool for expanded FMR1 alleles in large populations. We have developed a rapid polymerase chain reaction (PCR)-based screening tool for expanded FMR1 alleles. The method utilizes a chimeric PCR primer that targets randomly within the expanded CGG region, such that the presence of a broad distribution of PCR products represents a positive result for an expanded allele. The method is applicable for screening both males and females and for allele sizes throughout the premutation (55 to 200 CGG repeats) and full-mutation ranges. Furthermore, the method is capable of rapid detection of expanded alleles using as little as 1% of the DNA from a single dried blood spot. The methodology presented in this work is suitable for screening large populations of newborn or those at high risk (eg, autism, premature ovarian failure, ataxia, dementia) for expanded FMR1 alleles. The test described herein costs less than $5 per sample for materials; with suitable scale-up and automation, the cost should approach $1 per sample.
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PMID:A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. 1816 73

Autism spectrum disorder is a heterogeneous, behaviorally defined, neurodevelopmental disorder that occurs in 1 in 150 children. Individuals with autism have deficits in social interaction and verbal and nonverbal communication and have restricted or stereotyped patterns of behavior. They might also have co-morbid disorders including intellectual impairment, seizures and anxiety. Postmortem and structural magnetic resonance imaging studies have highlighted the frontal lobes, amygdala and cerebellum as pathological in autism. However, there is no clear and consistent pathology that has emerged for autism. Moreover, recent studies emphasize that the time course of brain development rather than the final product is most disturbed in autism. We suggest that the heterogeneity of both the core and co-morbid features predicts a heterogeneous pattern of neuropathology in autism. Defined phenotypes in larger samples of children and well-characterized brain tissue will be necessary for clarification of the neuroanatomy of autism.
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PMID:Neuroanatomy of autism. 1825 9

We had clinical grounds to suspect that patients with autism had greater propofol requirements during dental procedures than patients with intellectual impairment without autism. This hypothesis was tested by an audit of a standard anaesthetic technique. The audit was approved by our Hospital Ethics Committee. We compared the propofol requirements and effect using a standardised protocol during dental treatment in 56 autistic patients (age range three to 35 years) and 56 intellectually impaired patients (age range four to 42 years). Patients in each disability group were divided into three subgroups by age: six years or younger, seven to 19 years and 20 years or older. Combative patients received oral midazolam premedication, other patients received a single intravenous bolus of midazolam at induction. Otherwise, standardised propofol boluses and infusion were the only anaesthetic agents used. The propofol infusion rates of the intellectually impaired group showed significant decline with age (propofol rate of requirement mg x kg(-1) x h(-1), mean [SD]): < six years 13.6 (3.6), seven to 19 years 9.5 (3.0) (P = 0.008 cf < six years group), > 19 years group 8.5 (2.4) (P = 0.001 cf < six years group). The propofol requirement was greater in the autism group than in the intellectual disability group, and the proportion of the cases where bolus propofol administration was needed after induction was significantly higher in the autistic patient group than in the intellectually impaired patients (P < 0.002). This suggests that autistic patients have greater propofol requirements for anaesthesia during ordinary dental treatment compared with intellectually impaired patients.
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PMID:Dose requirements for propofol anaesthesia for dental treatment for autistic patients compared with intellectually impaired patients. 1915 49

Most investigations of savant skills in autism are based on individual case reports. The present study investigated rates and types of savant skills in 137 individuals with autism (mean age 24 years). Intellectual ability ranged from severe intellectual impairment to superior functioning. Savant skills were judged from parental reports and specified as 'an outstanding skill/knowledge clearly above participant's general level of ability and above the population norm'. A comparable definition of exceptional cognitive skills was applied to Wechsler test scores--requiring a subtest score at least 1 standard deviation above general population norms and 2 standard deviations above the participant's own mean subtest score. Thirty-nine participants (28.5%) met criteria for either a savant skill or an exceptional cognitive skill: 15 for an outstanding cognitive skill (most commonly block design); 16 for a savant skill based on parental report (mostly mathematical/calculating abilities); 8 met criteria for both a cognitive and parental rated savant skill. One-third of males showed some form of outstanding ability compared with 19 per cent of females. No individual with a non-verbal IQ below 50 met criteria for a savant skill and, contrary to some earlier hypotheses, there was no indication that individuals with higher rates of stereotyped behaviours/interests were more likely to demonstrate savant skills.
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PMID:Savant skills in autism: psychometric approaches and parental reports. 1952 18

Questions about music's evolution and functions have long excited interest among scholars. More recent theoretical accounts have stressed the importance of music's social origins and functions. Autism and Williams syndrome, neurodevelopmental disorders supposedly characterized by contrasting social and musical phenotypes, have been invoked as evidence for these. However, empirical data on social skills and deficits in autism and Williams syndrome do not support the notion of contrasting social phenotypes: research findings suggest that the social deficits characteristic of both disorders may increase rather than reduce the importance of music. Current data do not allow for a direct comparison of musical phenotypes in autism and Williams syndrome, although it is noted that deficits in music cognition have been observed in Williams syndrome, but not in autism. In considering broader questions about musical understanding in neurodevelopmental disorders, we conclude that intellectual impairment is likely to result in qualitative differences between handicapped and typical listeners, but this does not appear to limit the extent to which individuals can derive benefits from the experience of listening to music.
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PMID:"With concord of sweet sounds...": new perspectives on the diversity of musical experience in autism and other neurodevelopmental conditions. 1967

The Prudhoe Cognitive Function Test (PCFT) directly measures the cognitive abilities of people with intellectual impairment. This study examined the relationship between this instrument and the Kaufman Brief Intelligence Test (K-BIT) and two shorter versions of the same scale. High correlations between the verbal and performance sections of the K-BIT and the Long PCFT were found with correlation coefficients of 0.85 and 0.78, respectively. Extremely high correlations between the Short versions of the PCFT and the Long version were obtained at 0.97 for Form A and 0.98 for Form B, illustrating that both Short forms and the Long form are essentially interchangeable. The PCFT is a reliable and robust schedule in the assessment of cognitive function in this population.
J Autism Dev Disord 2010 Aug
PMID:Comparison of short and long versions of the Prudhoe Cognitive Function Test and the K-BIT in participants with intellectual impairment. 2014 47

It is often difficult to determine the triad of impairments and whether autistic features are the consequence of intellectual impairment or autism spectrum disorders in people with intellectual disability (ID). The aim of the current study was to investigate the relationship between carer-reported autistic traits and independent diagnoses of autism spectrum disorders (ASD). Data were collected on carers' subjective report of autistic traits and clinical diagnoses of ASD. Of 1145 adults with ID identified, 220 (19%) individuals had a diagnosis of ASD, and 778 (68%) individuals had at least one autistic trait. Optimal sensitivity and specificity were achieved with two or more autistic traits (sensitivity 63%; specificity 79%) and the positive predictive value increased substantially as the number of autistic traits increased. However, a significant proportion of individuals with ID who did not have a diagnosis of ASD also displayed autistic traits. Our findings suggest that in the absence of other measures, the presence of autistic traits can serve as a useful proxy measure for ASD in research (and/or clinical settings). However, although information on autistic traits may help healthcare practitioners to identify people with possible ASD, it cannot be used alone to make a formal diagnosis.
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PMID:The relationship between carers' report of autistic traits and clinical diagnoses of autism spectrum disorders in adults with intellectual disability. 2018 12


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