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

There is much evidence in the literature suggesting that children with congenital blindness can also present autistic like features. The aetiopathogenetic and clinical significance of this association is still unclear. Given the central role played by vision in development, we set out to establish the significance of autistic-like behaviours in children with early-onset severe visual impairment. Our sample comprised 24 children (13 males, 11 females; mean age 5y 2mo; range 2-11y) affected by Leber's congenital amaurosis (LCA). The results of our administration of a modified Childhood Autism Rating Scale--excluding item VII (Visual Responsiveness)--showed that only four of the children gave an overall score indicating the presence of autism (moreover, of mild/moderate degree). Hardly any of the children in our LCA sample presented major dysfunctions in their relationships with other people or in their social and emotional responsiveness, thus allowing us to exclude a genuine comorbidity with a picture of autism. Indeed, the risk facing the visually impaired child seems to concern their early interactive experiences, which may be affected by their inability to connect with others, and may be prevented through the development of specific strategies of intervention.
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PMID:Leber's congenital amaurosis: is there an autistic component? 1759 21

Other people's eye-gaze is a powerful social stimulus that captures and directs visual attention. There is evidence that this is not the case for children with autism spectrum disorder (ASD), although less is known about attention to eye-gaze in adults. We investigated whether young adults would detect a change to the direction of eye-gaze in another's face more efficiently than a control change (presence/absence of spectacles). A change blindness method was used in which images showed faces as part of a complex, naturalistic scene. Results showed that adults with ASD, like typically developing controls, were faster and more accurate at detecting eye-gaze than control changes. Results are considered in terms of a developmental account of the relationship between social attention and other skills.
J Autism Dev Disord 2008 Oct
PMID:Brief report: young adults with autism spectrum disorder show normal attention to eye-gaze information-evidence from a new change blindness paradigm. 1830 31

The mind-blindness theory of autism spectrum conditions has been successful in explaining the social and communication difficulties that characterize these conditions but cannot explain the nonsocial features (the narrow interests, need for sameness, and attention to detail). A new theory, the empathizing-systemizing (E-S) theory, is summarized, which argues two factors are needed to explain the social and nonsocial features of the condition. This is related to other cognitive theories such as the weak central coherence theory and the executive dysfunction theory. The E-S theory is also extended to the extreme male brain theory as a way of understanding the biased sex ratio in autism. Etiological predictions are discussed, as are the clinical applications arising from the E-S theory.
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PMID:Autism: the empathizing-systemizing (E-S) theory. 1933 3

Individuals with autism spectrum disorders (ASD) are often reported to be good at detecting minute changes in the environment. This study tested two factors in this phenomenon; detail-focus and reduced top-down influence of scene-schema expectations on spontaneous attention to visual scene elements. Using a change blindness paradigm, adults with ASD and matched typically developing (TD) adults were presented with images of naturalistic scenes (e.g., living room). Scene changes involved three types of object substitution: an object was replaced with (i) an unexpected scene-unrelated object, (ii) a scene-related object of a different basic-level category, (iii) or a different exemplar of the original object category. Top-down effects of scene-schema expectations should render scene-unrelated (i) substitutions easiest to recognize; detail focus should increase detection of exemplar changes. The TD group showed the expected condition effects, detecting scene-unrelated substitutions significantly better than both types of scene-related changes. By contrast, the ASD group showed no condition effect, and was only significantly slower and less accurate than the TD group in detecting scene-unrelated objects. These findings suggest reduced influence of schematic expectations on spontaneous attention in individuals with ASD. Together with other factors, this may contribute to the tendency to notice "irrelevant" changes in the environment.
Autism Res 2008 Jun
PMID:Detecting changes in naturalistic scenes: contextual inconsistency does not influence spontaneous attention in high-functioning people with autism spectrum disorder. 1936 Jun 64

Previous studies have reported that congenitally blind children without any additional impairment reveal a developmental delay of at least 4 years in perspective taking based on testing first-order false-belief tasks. These authors interpret this delay as a sign of autism-like behavior. However, the delay may be caused by testing blind children with false-belief tasks that require visual experience. Therefore, the present study gave alternative false-belief tasks based on tactile or auditory experience to 45 congenitally blind 4-10-year-olds and 37 sighted 3-6-year-olds. Results showed criterion performance at 80 months (6; 8 years) in blind children compared with 61 months (5; 1 years) in sighted controls. It is concluded that this 19-month (1; 7 year) difference, which is comparable with delays in other developmental areas, is a developmental delay caused by the fact of congenital blindness rather than a sign of a psychopathological disorder of autism-like behavior.
J Autism Dev Disord 2010 Dec
PMID:Validity of false belief tasks in blind children. 2037 70

Samuel Beckett and Jorge Luis Borges have presented 20th century literature with a distinctive gallery of solitary figures who suffer from a series of physiological ailments: invalidism, decrepitude, infirmity and blindness, as well as neurological conditions such as amnesia and autism spectrum disorders. Beckett and Borges were concerned with the dynamics between illness and creativity, the literary representation of physical and mental disabilities, the processes of remembering and forgetting, and the inevitability of death. This article explores the depiction of physically and mentally disabled characters in Borges' Funes the Memorious (1942)--a story about an Uruguayan gaucho who has been left paralysed after a fall from a horse which simultaneously endowed him with an infallible memory and perception--and Beckett's Trilogy: Molloy (1951), Malone Dies (1951) and The Unnamable (1953). It examines the prodigious memory of Funes and the forgetful minds of Molloy and Malone with reference to influential neuropsychological studies such as Alexander Luria's twofold exploration of memory and forgetfulness in The Mind of a Mnemonist (1968) and The Man with a Shattered World (1972). The article demonstrates that in contrast to Beckett's amnesiacs and Luria's brain-damaged patient, who are able to transcend their circumstances through cathartic writing, Borges' and Luria's mnemonic prodigies fail to achieve anything significant with their unlimited memories and remain imprisoned within their cognitive disabilities. It reveals that medical discourses can provide invaluable insights and lead to a deeper understanding of the minds and bodily afflictions of literary characters.
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PMID:Literature and disability: the medical interface in Borges and Beckett. 2159 47

Timothy syndrome (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and mental retardation or autism. Splawski et al. [2004] previously described two phenotypes associated with TS distinguished by two unique and different mutations within the CACNA1C gene. We report on a newborn who presented with prolonged QT interval and associated polymorphic ventricular tachycardia, dysmorphic facial features, syndactyly of the hands and feet, and joint contractures, suggestive of TS. He developed a stroke, subsequent intractable seizures, and was found to have cortical blindness and later profound developmental delay. Initial targeted mutation analysis did not identify either of the previously described TS associated mutations; however, full gene sequencing detected a novel CACNA1C gene mutation (p.Ala1473Gly). The clinical and genetic findings in our case expand both the clinical and molecular knowledge of TS.
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PMID:Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. 2210 44

Studies on young children with reversible autism and intellectual disability are discussed. Present evidence suggests a clear cause in a minority of cases including early institutionalization, Landau and Kleffner syndrome, and other early onset epilepsies, intrauterine rubella, and blindness. The majority of cases have normal laboratory results and some have early onset Tourette syndrome. Preliminary data of a follow-up study of this last group are reported in 15 patients suggesting the possibility of two subgroups, one represented by early onset Tourette syndrome phenotype, characterized by a positive family history, and by its appearance at the same time as regression and persistence into adolescence while the other of a different nature. Genetic studies could be of help to clarify this issue and support a diagnosis of favorable outcome in young children.
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PMID:Reversible autism and intellectual disability in children. 2249 41

Recent theoretical approaches to infant development have highlighted the importance of exploratory actions to motor, perceptual and cognitive development in infancy. However, the performance of infants exposed to risk factors when exploring objects has been frequently overlooked as a variable of interest. The aim of this study was to review scientific publications investigating the role of developmental risk factors on the development of exploratory actions over objects. Electronic databases (Medline and Science Direct) were searched for papers by using for the following key-words in combination: "exploration", "exploratory", "infants". Eighteen papers were included in the review. The performance of infants exposed to various risk conditions such as prematurity, blindness, Down syndrome, autism and low socioeconomic level have been addressed in the literature. Each risk condition has influenced infants' behaviors in particular ways. Considerations for further research were made based on issues raised by the review that still need to be further understood.
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PMID:What do we know about the atypical development of exploratory actions during infancy? 2282 63

Change blindness refers to the difficulty most people find in detecting a difference between two pictures when these are presented successively, with a brief interruption between. Attention at the site of the change is required for detection. A number of studies have investigated change blindness in adults and children with autism spectrum disorders (ASD). Some have produced evidence that people with ASD find changes to social stimuli harder to detect and changes to non-social stimuli easier to detect, relative to comparison participants. However, other studies have produced entirely contradictory findings. There is a need for consistency in methodology to aid understanding of change blindness and attentional processes in ASD. Here, we replicate a change blindness study previously carried out with typically developing (TD) children and adults and with adults with ASD. Results reveal attenuated change blindness for non-social stimuli in children with ASD relative to TD norms. Our results are interpreted, alongside others' findings, as potentially indicative of a complex relationship between different influences on attention over time.
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PMID:Attenuation of change blindness in children with autism spectrum disorders. 2288 73


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