Megan Farley

Twenty‐year outcome for individuals with autism and average or near‐average cognitive abilities

Previous studies found substantial variability in adult outcome for people with autism whose cognitive functioning was within the near‐average and average ranges. This study examined adult outcome for 41 such individuals (38 men and 3 women) originally identified through an epidemiological survey of autism in Utah. Mean age at the time of their previous cognitive assessment was 7.2 years (SD=4.1, range=3.1–25.9 years) and at follow‐up was 32.5 years (SD=5.7 years, range=22.3–46.4 years). Outcome measures included standardized assessments of diagnostic status, cognitive ability, and adaptive behavior. Additional information collected concerned demographic variables, indicators of independence, social relationships, medical and psychiatric conditions, and social service use. Outcomes for this sample were better than outcomes described in previous work on individuals with similar cognitive functioning. For example, half of the participants were rated as “Very Good” or “Good” on a global outcome measure. As in previous studies, there was considerable variability in measured cognitive ability over time. Over half of the sample had large gains or losses of cognitive ability of greater than 1 standard deviation. Cognitive gain was associated with better outcome, as was better adaptive functioning. While all participants had baseline IQs in the nonimpaired range, there was limited evidence to support the use of other early childhood variables to predict adult outcome.

A high-density SNP genome-wide linkage scan in a large autism extended pedigree

We performed a high-density, single nucleotide polymorphism (SNP), genome-wide scan on a six-generation pedigree from Utah with seven affected males, diagnosed with autism spectrum disorder. Using a two-stage linkage design, we first performed a nonparametric analysis on the entire genome using a 10K SNP chip to identify potential regions of interest. To confirm potentially interesting regions, we eliminated SNPs in high linkage disequilibrium (LD) using a principal components analysis (PCA) method and repeated the linkage results. Three regions met genome-wide significance criteria after controlling for LD: 3q13.2–q13.31 (nonparametric linkage (NPL), 5.58), 3q26.31–q27.3 (NPL, 4.85) and 20q11.21–q13.12 (NPL, 5.56). Two regions met suggestive criteria for significance 7p14.1–p11.22 (NPL, 3.18) and 9p24.3 (NPL, 3.44). All five chromosomal regions are consistent with other published findings. Haplotype sharing results showed that five of the affected subjects shared more than a single chromosomal region of interest with other affected subjects. Although no common autism susceptibility genes were found for all seven autism cases, these results suggest that multiple genetic loci within these regions may contribute to the autism phenotype in this family, and further follow-up of these chromosomal regions is warranted.

Identifying Autism in a Brief Observation

BACKGROUND: Pediatricians, neurologists, and geneticists are important sources for autism surveillance, screening, and referrals, but practical time constraints limit the clinical utility of behavioral observations. We analyzed behaviors under favorable conditions (ie, video of autism evaluations reviewed by experts) to determine what is optimally observable within 10-minute samples, asked for referral impressions, and compared these to formal screening and developmental testing results. METHODS: Participants (n = 42, aged 15 to 33 months) were typically developing controls and children who screened positive during universal autism screening within a large community pediatric practice. Diagnostic evaluations were performed after screening to determine group status (autism, language delay, or typical). Licensed psychologists with toddler and autism expertise, unaware of diagnostic status, analyzed two 10-minute video samples of participants’ autism evaluations, measuring 5 behaviors: Responding, Initiating, Vocalizing, Play, and Response to Name. Raters were asked for autism referral impressions based solely on individual 10-minute observations. RESULTS: Children who had autism showed more typical behavior (89% of the time) than atypical behavior (11%) overall. Expert raters missed 39% of cases in the autism group as needing autism referrals based on brief but highly focused observations. Significant differences in cognitive and adaptive development existed among groups, with receptive language skills differentiating the 3 groups. CONCLUSIONS: Brief clinical observations may not provide enough information about atypical behaviors to reliably detect autism risk. High prevalence of typical behaviors in brief samples may distort clinical impressions of atypical behaviors. Formal screening tools and general developmental testing provide critical data for accurate referrals.

A description of medical conditions in adults with autism spectrum disorder: A follow-up of the 1980s Utah/UCLA Autism Epidemiologic Study

This study describes medical conditions experienced by a population-based cohort of adults with autism spectrum disorder whose significant developmental concerns were apparent during childhood. As part of a 25-year outcome study of autism spectrum disorder in adulthood, medical histories were collected on 92 participants (N = 69 males) who were first ascertained as children in the mid-1980s, 11 of whom were deceased at the time of follow-up. Questionnaires queried medical symptoms, disorders, hospitalizations, surgeries, and medication use. Median age at follow-up was 36 years (range: 23.5–50.5 years), and intellectual disability co-occurred in 62%. The most common medical conditions were seizures, obesity, insomnia, and constipation. The median number of medical conditions per person was 11. Increased medical comorbidity was associated with female gender (p = 0.01) and obesity (p = 0.03), but not intellectual disability (p = 0.79). Adults in this cohort of autism spectrum disorder first ascertained in the 1980s experience a high number of chronic medical conditions, regardless of intellectual ability. Understanding of these conditions commonly experienced should direct community-based and medical primary care for this population.

Range of Outcomes and Challenges in Middle and Later Life

As will already be clear at this point in this volume, the focus in research and treatment of autism spectrum disorders (ASDs) since its first description in 1943 has been on children. While some attention was given to the adult outcomes of people with ASD as early as the 1960s (British Journal of Psychiatry 113:1183–1199, 1967; Journal of Autism and Childhood Schizophrenia 1:119–145, 1971; Journal of Autism and Childhood Schizophrenia 4:11–32, 1974), the proportion of resources and research focused on adults with ASD has historically been minute compared to that given to children. Large-scale efforts are now underway by community support groups, provider groups, governments, and research organizations to understand the natural progression of ASD across the lifespan and to support adults with autism and their families to achieve the best possible outcomes.

Mid-life social outcomes for a population-based sample of adults with ASD: Mid-life social outcomes for adults

Adults with autism spectrum disorders (ASD) fall short of social outcomes of non‐ASD peers in mid‐life, as documented by currently published research. The aim of the current study was to extend what is known about social functioning, employment, independent living, and use of social services by examining details of the current life status for a population‐based sample of adults with ASD (mean age = 35.5 years, range = 22.2–51.4). We collected outcome data via direct assessment and informant report for 169 individuals. Three‐fourths of the sample had cognitive abilities in the intellectually disabled range. Social functioning outcomes, as a single measure, mirror those reported previously for other samples, including samples with a high proportion of individuals with normal range intellectual abilities, with 20% achieving the most independent outcomes and 46% requiring high levels of support across most life areas. Participant subgroups who achieved maximal outcomes represented a range of social and intellectual abilities for several outcome metrics. Participants used high levels of public and private supports, yet specific areas of clear, unmet need were also identified. Autism Res 2018, 11: 142–152.