Characterizing the daily life, needs, and priorities of adults with autism spectrum disorder from Interactive Autism Network data.

Using online survey data from a large sample of adults with autism spectrum disorder and legal guardians, we first report outcomes across a variety of contexts for participants with a wide range of functioning, and second, summarize these stakeholders' priorities for future research. The sample included n = 255 self-reporting adults with autism spectrum disorder aged 18-71 years (M = 38.5 years, standard deviation = 13.1 years) and n = 143 adults with autism spectrum disorder aged 18-58 years (M = 25.0 years, standard deviation = 8.2 years) whose information was provided by legal guardians. Although the self-reporting subsample had much higher rates of employment, marriage/partnership, and independent living than are typically seen in autism spectrum disorder outcome studies, they remained underemployed and had strikingly high rates of comorbid disorders. Data on both descriptive outcomes and rated priorities converged across subsamples to indicate the need for more adult research on life skills, treatments, co-occurring conditions, and vocational and educational opportunities. Stakeholders also placed priority on improving public services, health care access, and above all, public acceptance of adults with autism spectrum disorder. Findings must be interpreted in light of the self-reporting subsample's significant proportion of females and of later-diagnosed individuals. This study underscores the need for lifespan research; initiatives will benefit from incorporating information from the unique perspectives of adults with autism spectrum disorder and their families.

A Genetic Multimutation Model of Autism Spectrum Disorder Fits Disparate Twin Concordance Data from the USA and Canada.

Whether autism spectrum disorder (ASD) is caused by genetics, environmental factors, or a combination of both is still being debated today. To help resolve this issue, a genetic multimutation model of ASD development was applied to a wide variety of age-of-onset data from the USA and Canada, and the model is shown to fit all the data. Included in this analysis is new, updated data from the Interactive Autism Network (IAN) of the Kennedy Krieger Institute in Baltimore, Maryland. We find that the age-of-onset distribution for males and females is identical, suggesting that ASD may be an autosomal disorder. The ASD monozygote concordance rate in twin data predicted by the genetic multimutation model is shown to be compatible with the observed rates. If ASD is caused entirely by genetics, then the ASD concordance rate of a cohort of monozygote twins should approach 100% as the youngest pair of twins in the cohort passes 10 years of age, a prediction that constitutes a critical test of the genetic hypothesis. Thus, by measuring the ASD concordance rate as a cohort of monozygote twins age, the hypothesis that this disorder is caused entirely by genetic mutations can be tested.

Health care transition services for youth with autism spectrum disorders.

OBJECTIVE: Little is known about accessibility to health care transition (HCT) services (HCT) for youth with autism spectrum disorders (ASD). This study examined how often youth with ASD receive HCT services and how access varied by individual, family, and health system characteristics. METHOD: Questionnaires were completed by 101 parents of youth with ASD (ages 12-17 years) enrolled in a national online autism registry. Descriptive statistics and bivariate analysis were used to examine a composite HCT variable and its components. RESULTS: Fewer than 15% of youth received HCT services. Although 41% received at least 1 HCT discussion, only 3% received all 3. One-quarter had a discussion with their health care provider about transitioning to an adult provider, adult health care needs, or insurance retention, and 31% of providers encouraged youth to take on more responsibilities. Most caregivers reported not needing 1 or more of the discussions. RESULTS varied significantly when the sample was divided by age, with older youth more likely to have received transition services than younger adolescents. CONCLUSIONS: These findings indicate a significant disparity in access to HCT services for youth with ASD. Further research is needed to understand this disparity and develop interventions to improve HCT both for youth with ASD and those with other disabling health conditions. Additionally, many caregivers do not recognize the importance of HCT services. Education and training for caregivers, youth, and providers is essential to ensure all parties are working together to address transition issues early and often.

The relationship between the medical home and unmet needs for children with autism spectrum disorders.

The purpose of this study was to examine the relationship between having access to a medical home and unmet needs for specialty care services for children with autism spectrum disorders (ASD). Parents of children enrolled in a national autism registry were invited to complete an online Access to Care Questionnaire. The resulting sample consisted of 371 parents-child dyads. Bivariate and hierarchical regression analyses were conducted to determine whether having a medical home was associated with the number of unmet needs for specialty care. Less than one in five children with ASD had a medical home (18.9%). Nearly all parents reported that their child had a personal doctor or nurse as well as a usual source of care, but less than one-third received coordinated care (29.9%) and less than one-half received family-centered care (47.1%). Many children had unmet needs (63%), and the highest unmet need was for behavioral therapy. Having a medical home was associated with fewer unmet specialty care needs, even after demographic, child and family characteristics were taken into account. Children with ASD who have a medical home are more likely to have adequate access to needed services. Unfortunately, relatively few children have a medical home that includes family-centered and coordinated care. Enhancements in the delivery of primary care for children with ASD may make a real difference in access to needed specialty care services, potentially improving child and family outcomes.

Confirmatory factor analytic structure and measurement invariance of quantitative autistic traits measured by the social responsiveness scale-2.

Understanding the factor structure of autistic symptomatology is critical to the discovery and interpretation of causal mechanisms in autism spectrum disorder. We applied confirmatory factor analysis and assessment of measurement invariance to a large (N = 9635) accumulated collection of reports on quantitative autistic traits using the Social Responsiveness Scale, representing a broad diversity of age, severity, and reporter type. A two-factor structure (corresponding to social communication impairment and restricted, repetitive behavior) as elaborated in the updated Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5) criteria for autism spectrum disorder exhibited acceptable model fit in confirmatory factor analysis. Measurement invariance was appreciable across age, sex, and reporter (self vs other), but somewhat less apparent between clinical and nonclinical populations in this sample comprised of both familial and sporadic autism spectrum disorders. The statistical power afforded by this large sample allowed relative differentiation of three factors among items encompassing social communication impairment (emotion recognition, social avoidance, and interpersonal relatedness) and two factors among items encompassing restricted, repetitive behavior (insistence on sameness and repetitive mannerisms). Cross-trait correlations remained extremely high, that is, on the order of 0.66-0.92. These data clarify domains of statistically significant factoral separation that may relate to partially-but not completely-overlapping biological mechanisms, contributing to variation in human social competency. Given such robust intercorrelations among symptom domains, understanding their co-emergence remains a high priority in conceptualizing common neural mechanisms underlying autistic syndromes.

The association between bullying and the psychological functioning of children with autism spectrum disorders.

OBJECTIVE: Bullying has become a major national concern, particularly as it affects children with disabilities. The current study aimed to determine the association between psychiatric comorbid conditions, involvement in bullying (victim, bully, or bully-victim), and the immediate psychological correlates of bullying among children with autism spectrum disorders (ASDs). METHODS: A national sample of 1221 parents completed a survey dedicated to the bullying and school experiences of their child with ASD, reporting on the immediate consequences of bullying involvement, including their child's psychological well-being and any psychiatric comorbidity. Multivariate logistic regressions were performed to determine whether specific psychiatric comorbidities were associated with an increased risk of involvement as victim, bully, or bully-victim. Analyses of variance determined the relationship between bullying frequency and psychological functioning. All models adjusted for child and school covariates. RESULTS: Children who were frequently victimized were more likely to present with internalizing symptoms, whereas children who frequently bullied others were more likely to exhibit emotion regulation problems. Children who were identified as frequent bully-victims presented with both internalizing symptoms and emotion regulation problems. Children with attention-deficit hyperactivity disorder (ADHD) and depression were more likely to have been victimized, whereas children with conduct disorder (CD) or oppositional defiant disorder (ODD) were more likely to have bullied other children. Children identified as bully-victims were more likely to have ADHD, CD, or ODD. CONCLUSIONS: Children with ASDs who had displayed bullying behaviors in the past month exhibited psychological impairments, including psychiatric comorbidity. The frequency of bullying behaviors was significantly associated with the level of impairment.

Occurrence and family impact of elopement in children with autism spectrum disorders.

OBJECTIVES: Anecdotal reports suggest that elopement behavior in children with autism spectrum disorders (ASDs) increases risk of injury or death and places a major burden on families. This study assessed parent-reported elopement occurrence and associated factors among children with ASDs. METHODS: Information on elopement frequency, associated characteristics, and consequences was collected via an online questionnaire. The study sample included 1218 children with ASD and 1076 of their siblings without ASD. The association among family sociodemographic and child clinical characteristics and time to first elopement was estimated by using a Cox proportional hazards model. RESULTS: Forty-nine percent (n = 598) of survey respondents reported their child with an ASD had attempted to elope at least once after age 4 years; 26% (n = 316) were missing long enough to cause concern. Of those who went missing, 24% were in danger of drowning and 65% were in danger of traffic injury. Elopement risk was associated with autism severity, increasing, on average, 9% for every 10-point increase in Social Responsiveness Scale T score (relative risk 1.09, 95% confidence interval: 1.02, 1.16). Unaffected siblings had significantly lower rates of elopement across all ages compared with children with ASD. CONCLUSIONS: Nearly half of children with ASD were reported to engage in elopement behavior, with a substantial number at risk for bodily harm. These results highlight the urgent need to develop interventions to reduce the risk of elopement, to support families coping with this issue, and to train child care professionals, educators, and first responders who are often involved when elopements occur.

Mood disorders in mothers of children on the autism spectrum are associated with higher functioning autism.

Mood disorders occur more frequently in family members of individuals with autism spectrum disorders (ASD) than in the general population. There may be associations between maternal mood disorder history patterns and specific ASD phenotypes. We therefore examined the relationship between maternal mood disorders and child autism spectrum disorders in 998 mother-child dyads enrolled in a national online autism registry and database. Mothers of children with ASD completed online questionnaires addressing their child's ASD as well as their own mood disorder history. In multivariate logistic regression models of ASD diagnoses, the odds of an Asperger disorder versus autistic disorder diagnosis were higher among those children whose mothers had a lifetime history of bipolar disorder (OR 2.11, CI 1.20, 3.69) or depression (OR 1.62, CI 1.19, 2.19). Further, maternal mood disorder onset before first pregnancy was associated with higher odds (OR 2.35, CI 1.48, 3.73) of an Asperger versus autism diagnosis among this sample of children with ASD. These data suggest that differences in maternal mood disorder history may be associated with ASD phenotype in offspring.

Verification of parent-report of child autism spectrum disorder diagnosis to a web-based autism registry.

Growing interest in autism spectrum disorder (ASD) research requires increasingly large samples to uncover epidemiologic trends; such a large dataset is available in a national, web-based autism registry, the Interactive Autism Network (IAN). The objective of this study was to verify parent-report of professional ASD diagnosis to the registry's database via a medical record review on a sample of IAN Research participants. Sixty-one percent of families agreed to participate; 98% (n = 116) of whom provided documentation verifying a professionally diagnosed ASD. Results of this study suggest that information collected from parents participating in IAN Research is valid, participants can be authenticated, and that scientists can both confidently use IAN data and recruit participants for autism research.

Stability of initial autism spectrum disorder diagnoses in community settings.

The study's objectives were to assess diagnostic stability of initial autism spectrum disorder (ASD) diagnoses in community settings and identify factors associated with diagnostic instability using data from a national Web-based autism registry. A Cox proportional hazards model was used to assess the relative risk of change in initial ASD diagnosis as a function of demographic characteristics, diagnostic subtype, environmental factors and natural history. Autistic disorder was the most stable initial diagnosis; pervasive developmental disorder-not otherwise specified was the least stable. Additional factors such as diagnosing clinician, region, when in time a child was initially diagnosed, and history of autistic regression also were significantly associated with diagnostic stability in community settings. Findings suggest that the present classification system and other secular factors may be contributing to increasing instability of community-assigned labels of ASD.

Parent report of community psychiatric comorbid diagnoses in autism spectrum disorders.

We used a national online registry to examine variation in cumulative prevalence of community diagnosis of psychiatric comorbidity in 4343 children with autism spectrum disorders (ASD). Adjusted multivariate logistic regression models compared influence of individual, family, and geographic factors on cumulative prevalence of parent-reported anxiety disorder, depression, bipolar disorder, and attention deficit/hyperactivity disorder or attention deficit disorder. Adjusted odds of community-assigned lifetime psychiatric comorbidity were significantly higher with each additional year of life, with increasing autism severity, and with Asperger syndrome and pervasive developmental disorder-not otherwise specified compared with autistic disorder. Overall, in this largest study of parent-reported community diagnoses of psychiatric comorbidity, gender, autistic regression, autism severity, and type of ASD all emerged as significant factors correlating with cumulative prevalence. These findings could suggest both underlying trends in actual comorbidity as well as variation in community interpretation and application of comorbid diagnoses in ASD.

Factors affecting age at initial autism spectrum disorder diagnosis in a national survey.

Entry into early intervention depends on both age of first parent concern (AOC) and age at initial autism spectrum disorder (ASD) diagnosis (AOD). Using data collected from a national online registry from 6214 children diagnosed with an ASD between 1994 and 2010 in the US, we analyzed the effect of individual, family, and geographic covariates on AOC and AOD in a multivariate linear regression model with random effects. Overall, no single modifiable factor associated with AOC or AOD emerged but cumulative variation in certain individual- and family-based features, as well as some geographic factors, all contribute to AOC and AOD variation. A multipronged strategy is needed for targeted education and awareness campaigns to maximize outcomes and decrease disparities in ASD care.

Accuracy of phenotyping of autistic children based on Internet implemented parent report.

While strong familial evidence supports a substantial genetic contribution to the etiology of autism spectrum disorders (ASD), specific genetic abnormalities have been identified in only a small minority of all cases. In order to comprehensively delineate the genetic components of autism including the identification of rare and common variants, overall sample sizes an order of magnitude larger than those currently under study are critically needed. This will require rapid and scalable subject assessment paradigms that obviate clinic-based time-intensive behavioral phenotyping, which is a rate-limiting step. Here, we test the accuracy of a web-based approach to autism phenotyping implemented within the Interactive Autism Network (IAN). Families who were registered with the IAN and resided near one of the three study sites were eligible for the study. One hundred seven children ascertained from this pool who were verbal, age 4-17 years, and had Social Communication Questionnaire (SCQ) scores > or =12 (a profile that characterizes a majority of ASD-affected children in IAN) underwent a clinical confirmation battery. One hundred five of the 107 children were ASD positive (98%) by clinician's best estimate. One hundred four of these individuals (99%) were ASD positive by developmental history using the Autism Diagnostic Interview-Revised (ADI-R) and 97 (93%) were positive for ASD by developmental history and direct observational assessment (Autism Diagnostic Observational Schedule or expert clinician observation). These data support the reliability and feasibility of the IAN-implemented parent-report paradigms for the ascertainment of clinical ASD for large-scale genetic research.

Cost-effectiveness of skin-barrier-enhancing emollients among preterm infants in Bangladesh.

OBJECTIVE: To evaluate the cost-effectiveness of topical emollients, sunflower seed oil (SSO) and synthetic Aquaphor, versus no treatment, in preventing mortality among hospitalized preterm infants (< 33 weeks gestation) at a tertiary hospital in Bangladesh. METHODS: Evidence from a randomized controlled efficacy trial was evaluated using standard Monte Carlo simulation. Programme costs were obtained from a retrospective review of activities. Patient costs were collected from patient records. Health outcomes were calculated as deaths averted and discounted years of life lost (YLLs) averted. Results were deemed cost-effective if they fell below a ceiling ratio based on the per capita gross national income of Bangladesh (United States dollars, US$ 470). FINDINGS: Aquaphor and SSO were both highly cost-effective relative to control, reducing neonatal mortality by 26% and 32%, respectively. SSO cost US$ 61 per death averted and US$ 2.15 per YLL averted (I$ 6.39, international dollars, per YLL averted). Aquaphor cost US$ 162 per death averted and US$ 5.74 per YLL averted (I$ 17.09 per YLL averted). Results were robust to sensitivity analysis. Aquaphor was cost-effective relative to SSO with 77% certainty: it cost an incremental US$ 26 more per patient treated, but averted 1.25 YLLs (US$ 20.74 per YLL averted). CONCLUSION: Topical therapy with SSO or Aquaphor was highly cost-effective in reducing deaths from infection among the preterm neonates studied. The choice of emollient should be made taking into account budgetary limitations and ease of supply. Further research is warranted on additional locally available emollients, use of emollients in community-based settings and generalizability to other geographic regions.

Onset patterns prior to 36 months in autism spectrum disorders.

The present study investigated differences among children with three different patterns of autism symptom onset: regression, plateau, and no loss and no plateau. Cross-sectional data were collected from parents of children aged 3-17 years with an autism spectrum disorder (n = 2,720) who were recruited through a US-based online research database. Parental report of developmental characteristics was assessed through a parent questionnaire, and current autism symptoms were measured via the Social Responsiveness Scale and Social Communication Questionnaire. Multivariate analyses indicated that children with regression had a distinct developmental pattern marked by less delayed early development. However, following regression, these children evinced elevated autism symptom scores and an increased risk for poorer outcomes when compared with the other onset groups.

Nosocomial sepsis risk score for preterm infants in low-resource settings.

Sepsis is a leading cause of mortality for neonates in developing countries; however, little research has focused on clinical predictors of nosocomial infection of preterm neonates in the low-resource setting. We sought to validate the only existing feasible score introduced by Singh et al. in 2003 and to create an improved score. In a secondary analysis of daily evaluations of 497 neonates

Psychotropic medication use among children with autism spectrum disorders enrolled in a national registry, 2007-2008.

Patterns of current psychotropic medication use among 5,181 children with autism spectrum disorders (ASD) enrolled in a Web-based registry were examined. Overall, 35% used at least one psychotropic medication, most commonly stimulants, neuroleptics, and/or antidepressants. Those who were uninsured or exclusively privately insured were less likely to use >or=3 medications than were those insured by Medicaid. Psychiatrists and neurologists prescribed the majority of psychotropic medications. In multivariate analysis, older age, presence of intellectual disability or psychiatric comorbidity, and residing in a poorer county or in the South or Midwest regions of the United States increased the odds of psychotropic medication use. Factors external to clinical presentation likely affect odds of psychotropic medication use among children with ASD.

Characteristics and concordance of autism spectrum disorders among 277 twin pairs.

OBJECTIVES: To examine patterns of autism spectrum disorder (ASD) inheritance and other features in twin pairs by zygosity, sex, and specific ASD diagnosis. DESIGN: Cross-sectional study. SETTING: Internet-based autism registry for US residents. PARTICIPANTS: Survey results from 277 twin pairs (210 dizygotic [DZ] and 67 monozygotic [MZ]) aged 18 years or younger with at least 1 affected twin. MAIN EXPOSURES: Zygosity and sex. OUTCOME MEASURES: Concordance within twin pairs of diagnosis, natural history, and results from standardized autism screening. RESULTS: Pairwise ASD concordance was 31% for DZ and 88% for MZ twins. Female and male MZ twins were 100% and 86% concordant, respectively, and DZ twin pairs with at least 1 female were less likely to be concordant (20%) than were male-male DZ twin pairs (40%). The hazard ratio for ASD diagnosis of the second twin after a first-twin diagnosis was 7.48 for MZ vs DZ twins (95% confidence interval, 3.8-14.7). Affected DZ individual twins had an earlier age at first parental concern and more frequent diagnoses of intellectual disability than did MZ twins; MZ twins had a higher prevalence of bipolar disorder and Asperger syndrome and higher concordance of the latter. Results of autism screening correlated with parent-reported ASD status in more than 90% of cases. CONCLUSIONS: Our data support greater ASD concordance in MZ vs DZ twins. Overall higher functioning, psychiatric comorbidity, and Asperger syndrome concordance among affected MZ vs DZ twins may also suggest differential heritability for different ASDs. For families in which one MZ twin is diagnosed with ASD, the second twin is unlikely to receive an ASD diagnosis after 12 months. In addition, Internet parent report of ASD status is valid.

Trends in autism spectrum disorder diagnoses: 1994-2007.

We analyzed predictors of parent-reported initial diagnosis (autistic disorder [AD], pervasive developmental disorder-not otherwise specified [PDD-NOS], pervasive developmental disorder ['PDD'] and autism spectrum disorder ['ASD'], and Asperger syndrome [AS]), among 6,176 individuals with autism spectrum disorders diagnosed from 1994 through 2007. Overall, distribution of diagnoses was influenced by a secular time trend factor; other significant factors included ethnicity, white race, geographic location, urbanicity, and initial evaluator. Since 2001, most initial diagnoses of AD and AS have remained steady while 'PDD' and PDD-NOS have decreased. 'ASD' diagnoses have increased, especially among school-based teams; AS diagnoses also increased uniquely among these evaluators. Findings from this study suggest that current diagnostic guidelines may not be meeting all community evaluator needs.