Social Outcomes in Mid- to Later Adulthood Among Individuals Diagnosed With Autism and Average Nonverbal IQ as Children

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Abstract

To describe current social functioning in a clinical sample of 60 adults with autism (mean age = 44 years) who were all of average nonverbal IQ (70+) when first diagnosed (mean age = 6.75 years). Outcome measures included standardized diagnostic and cognitive assessments and questionnaires on social functioning. Child and adult variables related to current outcomes were explored. All individuals continued to meet criteria for autism spectrum disorder (ASD) on the Autism Diagnostic Interview-Revised (ADI-R), but severity of autism symptoms declined over time. Nevertheless, only 10 individuals (17%) were rated as having a "good" or "very good" outcome; the majority (60%) were assessed as having "poor" or "very poor" outcomes. The strongest predictor of adult outcome was the Reciprocal Social Interaction domain score on the ADI at diagnostic confirmation. Change over time was further examined in a subgroup (n = 44) previously assessed 20 years ago earlier (mean age = 26 years). Although severity of autism had continued to decrease during the adult period, social outcomes were poorer than in younger adulthood. In this cohort of adults first diagnosed with autism, on average, 37 years previously, social inclusion remains very limited, despite general improvements in autism symptomatology with age. Whether these findings will be replicated in future generations of children with autism, who now have the benefits of earlier diagnosis and wider access to specialist provision, needs to be the focus of further longitudinal research. Copyright © 2013 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

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Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei … (2010)

The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.

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J. Piven, P. Palmer, D Jacobi … (1997)

Studies of families ascertained through a single autistic proband suggest that the genetic liability for autism may be expressed in nonautistic relatives in a phenotype that is milder but qualitatively similar to the defining features of autism. The objective of this study was to examine behaviors that may define this broader phenotype in relatives ascertained through two autistic siblings. The authors used a semistructured family history interview to compare the rates of social and communication deficits and stereotyped behaviors in relatives ascertained through two autistic siblings (families with multiple-incidence autism; 25 families) with the rates in relatives of Down syndrome probands (30 families). Higher rates of social and communication deficits and stereotyped behaviors were found in the relatives in the families with multiple-incidence autism. These data suggest that further studies should be undertaken to delineate the boundaries of the broader autism phenotype and that this broader phenotype should be included in some future genetic analyses of this disorder.

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Epidemiology of autism spectrum disorders in adults in the community in England.

Traolach Brugha, Sally McManus, John Bankart … (2011)

To our knowledge, there is no published information on the epidemiology of autism spectrum disorders (ASDs) in adults. If the prevalence of autism is increasing, rates in older adults would be expected to be lower than rates among younger adults. To estimate the prevalence and characteristics of adults with ASD living in the community in England. A stratified, multiphase random sample was used in the third national survey of psychiatric morbidity in adults in England in 2007. Survey data were weighted to take account of study design and nonresponse so that the results were representative of the household population. General community (ie, private households) in England. Adults (people 16 years or older). Autism Diagnostic Observation Schedule, Module 4 in phase 2 validated against the Autism Diagnostic Interview-Revised and Diagnostic Interview for Social and Communication Disorders in phase 3. A 20-item subset of the Autism-Spectrum Quotient self-completion questionnaire was used in phase 1 to select respondents for phase 2. Respondents also provided information on sociodemographics and their use of mental health services. Of 7461 adult participants who provided a complete phase 1 interview, 618 completed phase 2 diagnostic assessments. The weighted prevalence of ASD in adults was estimated to be 9.8 per 1000 (95% confidence interval, 3.0-16.5). Prevalence was not related to the respondent's age. Rates were higher in men, those without educational qualifications, and those living in rented social (government-financed) housing. There was no evidence of increased use of services for mental health problems. Conducting epidemiologic research on ASD in adults is feasible. The prevalence of ASD in this population is similar to that found in children. The lack of an association with age is consistent with there having been no increase in prevalence and with its causes being temporally constant. Adults with ASD living in the community are socially disadvantaged and tend to be unrecognized.