Topic
Autism
About: Autism is a research topic. Over the lifetime, 54700 publications have been published within this topic receiving 2039777 citations. The topic is also known as: autistic disorder & autistic disorder of childhood onset.
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TL;DR: There is evidence that the broadening of the concept, the expansion of diagnostic criteria, the development of services, and improved awareness of the condition have played a major role in explaining this increase, although it cannot be ruled out that other factors might have also contributed to that trend.
Abstract: This article reviews the results of 43 studies published since 1966 that provided estimates for the prevalence of pervasive developmental disorders (PDDs), including autistic disorder, Asperger disorder, PDD not otherwise specified, and childhood disintegrative disorder. The prevalence of autistic disorder has increased in recent surveys and current estimates of prevalence are around 20/10,000, whereas the prevalence for PDD not otherwise specified is around 30/10,000 in recent surveys. Prevalence of Asperger disorder is much lower than that for autistic disorder and childhood disintegrative disorder is a very rare disorder with a prevalence of about 2/100,000. Combined all together, recent studies that have examined the whole spectrum of PDDs have consistently provided estimates in the 60-70/10,000 range, making PDD one of the most frequent childhood neurodevelopmental disorders. The meaning of the increase in prevalence in recent decades is reviewed. There is evidence that the broadening of the concept, the expansion of diagnostic criteria, the development of services, and improved awareness of the condition have played a major role in explaining this increase, although it cannot be ruled out that other factors might have also contributed to that trend.
1,815 citations
Book•
01 Jan 1987
TL;DR: In this article, a sibling's perspective on the diagnosis of Rett's syndrome is presented. But the authors focus on the development and social development of individuals with autism and do not address the social aspects of the disorder.
Abstract: Partial table of contents: DIAGNOSIS AND CLASSIFICATION Rett's Syndrome: A Pervasive Developmental Disorder (R Van Acker) DEVELOPMENT AND BEHAVIOR Social Development in Autism (F Volkmar et al) Autism in Infancy and Early Childhood (W Stone) NEUROBIOLOGY Neurological Aspects of Autism (N Minshew, et al) ASSESSMENT Behavioral Assessment of Individuals with Autism (M Powers) INTERVENTIONS Behavioral Interventions (J Bregman & J Gerdtz) Working with Families (L Marcus, et al) Routine Health Care (R Lacamera & A Lacamera) PUBLIC POLICY PERSPECTIVES Coping with the Diagnosis of Autism (B Siegel) Ethical Issues in Research and Treatment (A Klin & D Cohen) THEORETICAL PERSPECTIVES Classification and Causal Issues in Autism (I Rapin) Perspectives on Social Impairment (L Waterhouse & D Fein) INTERNATIONAL PERSPECTIVES Canada (P Szatmari) Spain (J Fuentes) PERSONAL PERSPECTIVES A Sibling's Perspective on Autism (J Konidaris) Indexes
1,783 citations
TL;DR: Susceptibility to ASD has moderate genetic heritability and a substantial shared twin environmental component.
Abstract: Context: Autism is considered the most heritable of neurodevelopmental disorders, mainly because of the large difference in concordance rates between monozygotic and dizygotic twins. Objective: To provide rigorous quantitative estimates of genetic heritability of autism and the effects of shared environment. Design, Setting, and Participants: Twin pairs with at least 1 twin with an autism spectrum disorder (ASD) born between 1987 and 2004 were identified through the California Department of Developmental Services. Main Outcome Measures: Structured diagnostic assessments (Autism Diagnostic Interview–Revised and Autism Diagnostic Observation Schedule) were completed on 192 twin pairs. Concordance rates were calculated and parametric models were fitted for 2 definitions, 1 narrow (strict autism) and 1 broad (ASD). Results: For strict autism, probandwise concordance for male twins was 0.58 for 40 monozygotic pairs (95% confidence interval [CI], 0.42-0.74) and 0.21 for 31 dizygotic pairs (95% CI, 0.09-0.43); for female twins, the concordance was 0.60 for 7 monozygotic pairs (95% CI, 0.28-0.90) and 0.27 for 10 dizygotic pairs (95% CI, 0.090.69). For ASD, the probandwise concordance for male twins was 0.77 for 45 monozygotic pairs (95% CI, 0.650.86) and 0.31 for 45 dizygotic pairs (95% CI, 0.160.46); for female twins, the concordance was 0.50 for 9 monozygotic pairs (95% CI, 0.16-0.84) and 0.36 for 13 dizygotic pairs (95% CI, 0.11-0.60). A large proportion of the variance in liability can be explained by shared environmental factors (55%; 95% CI, 9%-81% for autism and 58%; 95% CI, 30%-80% for ASD) in addition to moderate genetic heritability (37%; 95% CI, 8%-84% for autism and 38%; 95% CI, 14%-67% for ASD). Conclusion: Susceptibility to ASD has moderate genetic heritability and a substantial shared twin environmental component.
1,759 citations
TL;DR: Clinical guidelines for the diagnosis of autism in the draft version of ICD-10 were operationalized in terms of abnormalities on specific ADOS items, and an algorithm based on these items was shown to have high reliability and discriminant validity.
Abstract: The Autism Diagnostic Observation Schedule (ADOS), a standardized protocol for observation of social and communicative behavior associated with autism, is described. The instrument consists of a series of structured and semistructured presses for interaction, accompanied by coding of specific target behaviors associated with particular tasks and by general ratings of the quality of behaviors. Interrater reliability for five raters exceeded weighted kappas of .55 for each item and each pair of raters for matched samples of 15 to 40 autistic and nonautistic, mildly mentally handicapped children (M IQ = 59) between the ages of 6 and 18 years. Test-retest reliability was adequate. Further analyses compared these groups to two additional samples of autistic and nonautistic subjects with normal intelligence (M IQ = 95), matched for sex and chronological age. Analyses yielded clear diagnostic differences in general ratings of social behavior, specific aspects of communication, and restricted or stereotypic behaviors and interests. Clinical guidelines for the diagnosis of autism in the draft version of ICD-10 were operationalized in terms of abnormalities on specific ADOS items. An algorithm based on these items was shown to have high reliability and discriminant validity.
1,758 citations
TL;DR: Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme.
Abstract: Autism is a heterogeneous syndrome defined by impairments in three core domains: social interaction, language and range of interests. Recent work has led to the identification of several autism susceptibility genes and an increased appreciation of the contribution of de novo and inherited copy number variation. Promising strategies are also being applied to identify common genetic risk variants. Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme.
1,747 citations