Peer-reviewed Conference Presentations (2007-2014)
Members of IAN's project team and our collaborators have made numerous peer-reviewed presentations at scientific conferences. Following are the abstracts for these presentations.
Non-Verbal Children with ASD (NV-ASD): Validating a Registry and Characterizing a Population
(Marvin, A., Law, P., Law, J. K., Arthur, E., Mortenson, E., Abbacchi, A., Watson, T., Westreich., A., Gray, T., Zhang, Y., Marvin, D., Levin., S., Constantino, J., 2014)
Presentation Date: May 2014
Background: This study completes a series of verification/validation studies for a US-based, online, parent-report-based ASD registry with > 46,000 consented participants. Child probands are required to have a professional diagnosis of ASD. Previous studies have verified parent report of professional ASD diagnosis via medical record review (Daniels et al., 2012) and validated the Positive Predictive Value (PPV) of ASD diagnosis among verbal children in the registry (Lee et al., 2010). The current study is comparable to Lee et al., but limited to NV-ASD children. This study provides a unique opportunity to characterize this oft overlooked ASD subpopulation. NV-ASD presents unique challenges and opportunities for ASD research. In addition to language deficits, many additional ASD-like traits are observed at lower IQ levels in other, non-ASD, developmental disorders. This makes it difficult to accurately diagnose ASD in individuals at the lower end of the IQ scale. Thus, clinical diagnosis depends even more heavily on the clinician’s best estimate in conjunction with traditional ASD assessments.
Objectives: To determine the PPV of an online parent report-based registry for NV-ASD child participants. To characterize NV-ASD in this population.
Eligibility: Enrolled in the registry; current ASD diagnosis; confirmatory score >= 12 on the SCQ-Lifetime to account for variability in the quality of community-based professional diagnoses of ASD; non-verbal per Q1 in the SCQ-Lifetime: “Is she/he now able to talk using short phrases or sentences?”; >= 6 years, an age when verbal/non-verbal status is generally established; aged <18 years.
Procedures: Eligible participants were invited to receive an in-person clinical assessment at labs in Maryland, Missouri, or Michigan, or at their home in the northern-New Jersey/New York region. The clinical assessment included the ADOS, ADI-R, and one or more IQ-related tests. Parents were asked complete a battery of online questionnaires: SRS, ABAS-II, RBS-R, ABC, and the registry’s proprietary basic history questionnaire. The additional questionnaires were required to help characterized the population and help to differentiate ASD in the event that the SCQ-Lifetime did not suffice. Parents were also asked to request that a teacher complete an SRS for their child. Parents were asked to produce evidence that their child had, indeed, received a community diagnosis of ASD.
Results: 63 children were consented and 56 participants (43 male; 77%) completed the study. 100% of participants (CI95% = [95%, 100%]) were deemed by the study’s expert research clinicians to have an ASD. All participants met the criteria for ASD on both the ADOS and the ADI-R. All participants had cognitive disabilities beyond non-verbal status.
Conclusions: ASD research requires increasingly large samples to uncover the causes of this etiologically heterogeneous neurodevelopmental syndrome. These results suggest that scientists can both use registry data and recruit research participants from the registry with confidence. The relationship between degree of general cognitive impairment and the expectable severity of sub-sets of autistic symptoms (i.e., social communication and restricted/repetitive behaviors) among all non-verbal individuals warrants further study, and is being examined in this unique group of NV subjects who meet diagnostic criteria for ASD.
The Experience, Accommodations, and Resilience of Grandparents of Grandchildren with Autism Spectrum Disorders
(Hillman, J., Anderson, C., Marvin, A., Levin, S., Law, J. K., Law, P., 2014)
Presentation Date: May 2014
Background: With increased prevalence of childhood ASD, greater numbers of adults are likely to find themselves a grandparent to a child with ASD. Although previous research has typically examined the impact of grandparents upon the adult parents of children with ASD, little is known about the experience of those grandparents themselves.
Objectives: A primary goal of this study was to fill a gap in the literature regarding the unique experience of grandparents of grandchildren with ASD, from their first person perspective. In accord with resilience theory, it is essential to examine grandparents' accommodations (e.g., the extent to which they make contributions toward their ASD grandchild's general, special, and instrumental needs, and make life choices to support their grandchild) as well as perceptions of familial conflict and concern. Such knowledge will help guide the development of more effective interventions for family members affected by ASD.
Methods: Participants were asked to complete anonymously an online survey designed to be completed in approximately 30 minutes and deployed by SurveyMonkey. Participants were recruited via the Kennedy Krieger Institute's Interactive Autism Network's (IAN) Research e-newsletters and the IAN Community website, along with the assistance of the Autism Speaks Foundation, the Grandparent Autism Network, and the American Association of Retired People (AARP).
Criteria for inclusion required participants to live in the U.S. and its territories, and to have at least one grandchild with an ASD. The grandchild had to be the biological, adoptive, or stepchild of the respondent's biological or adopted son, stepson, daughter, or stepdaughter.
Results: A total of 1881 participants completed the on-line survey, including 1534 grandmothers (81.6%) and 347 grandfathers (18.4%), who also identified as maternal (63.4%) and paternal (35.6%) grandparents. In terms of grandparental status, more than half of the respondents were maternal grandmothers (52.3%) followed by paternal grandmothers (29.2%), maternal grandfathers (11.9%), and paternal grandfathers (6.5%).
Results indicated that grandparents made significant accommodations and provided support toward their grandchild's general, special (e.g., Applied Behavioral Analysis; OT; educational programming), and instrumental needs (e.g., babysitting and transportation). Nearly half of the grandparents reported making personal sacrifices to help support their ASD grandchild including putting off their own retirement, becoming their grandchild's primary babysitter, and combining households. Maternal grandparents were more likely to provide instrumental care and make personal sacrifices than paternal grandparents, whereas grandfathers were more likely to provide financial support for their grandchild's special needs than grandmothers. In accord with resilience theory, the majority of grandparents reported that they were coping fairly or very well in relation to their grandchild's ASD, despite expressing significant worry for their adult son or daughter raising their grandchild. Grandparents also reported, on average, experiencing little family conflict in relation to their grandchild's ASD. Approximately 10% of the grandparents did, however, report that they were not coping well with their grandchild's ASD.
Conclusions: Grandparents of grandchildren with ASD appear, on average, to be resilient and make significant accommodations on behalf of their family. Addressing the needs and experience of those grandparents would likely benefit all family members.
Resolution of the Factoral Structure of Quantitative Autistic Symptomatology in 11, 000 Assessments of School-Aged Children and Adults
(Frazier, T.W., Gruber, C., Law, P.A., Constantino, J.N., 2013)
Presentation Date: May 2013
Background: Understanding the factor structure of autism is critical to the discovery and interpretation of causal mechanisms in autistic syndromes. Newly-identified susceptibility factors involving single gene mutations, co-occurring variations in small groupings of risk genes, or the effects of a multitude of common variations occurring in specific combinations and jointly influencing risk are being elucidated every month. In order to examine specific associations between behavioral variations and their underlying genetic and neural causes, it is important to continue to explore and resolve questions about how traits and symptoms in autistic syndromes co-vary, using data from large, diverse populations that encompass the full range of symptom structures underlying autism spectrum disorders (ASD).
Objectives: To evaluate the factor structure of quantitative autistic traits in a large, diverse sample of children and adults, representing the full range from typical (general population) variation to severe, clinical-level affectation. Confirmatory factor analysis and assessment of measurement invariance across age, sex, informant, and ASD diagnosis (within autism-affected families) were examined in the largest sample ever assembled for this purpose.
Methods: Data were acquired using the Social Responsiveness Scale-2 (SRS-2) from three distinct samples: 1) a child clinical sample involving children affected by ASD and their unaffected siblings, participating in the Interactive Autism Network (IAN) volunteer registry (N=7,921) and reported-upon by their parents; 2) a child population-based sample (N=1,012) rated by a parent; and 3) an adult population-based sample (N=702) in which at least one report was obtained from a relative or other close acquaintance (n=1573), and in addition most subjects provided a self-report (n=673). Confirmatory factor analysis and assessment of measurement invariance were implemented on the accumulated data set.
Results: A two-factor structure differentiating social-communicative impairment (SCI) and restricted repetitive behaviors (RRB)--as elaborated in the updated DSM-5 criteria for autism spectrum disorders--exhibited a highly acceptable model fit when confirmatory factor analysis was applied to the data. These factors exhibited measurement invariance across age, sex, and reporter (self vs. other), but exhibited a somewhat lower level of measurement equivalence between clinical and non-clinical populations. The statistical power afforded by this large sample allowed further factoral separation within each of the two principal factors, yielding three SCI sub factors (emotion recognition, social avoidance, and interpersonal relatedness) and two RRB sub factors (insistence on sameness and repetitive mannerisms). Cross-trait correlations between SCI and RRB remained extremely high, i.e. on the order of 0.95 for the general population, 0.94 for unaffected siblings in ASD-affected families, and 0.87 among children affected by ASD.
Conclusions: This study provided strong evidence of separable, but highly correlated, autism traits corresponding to DSM-5 domains. The statistical power afforded by quantitative analysis in this large sample allowed resolution of sub factors (themselves highly inter-correlated) which potentially represent subtle aspects of differentiation between deficits in emotion recognition, social avoidance, and interpersonal relatedness in autism and related neuropsychiatric syndromes. These components of behavioral dysfunction may constitute important targets for intervention, and for association with biological markers, particularly in gene discovery and in the exploration of neural signatures of autism.
Service Needs of Adults with Autism
(Johnson, D., Singer, A., Anderson, C., Law, J.K., Law, P.A., Marvin, A.R., 2013)
Presentation Date: May 2013
Background: Autism is a pervasive developmental disorder that persists into adulthood, yet there is little research available on the trajectory of autism over the life course. Behavior and symptoms change as children with autism mature into adults, resulting in new challenges and needs for this population. Little is known about the unique service requirements of adults with autism, underscoring a significant need for data to help guide the development of relevant and useful services that may improve quality of life.
Objectives: The primary aim of this study was to learn more about the needs of adults with autism by identifying the drivers of fulfillment and success in employment, leisure, and spirituality. A secondary objective was to determine whether the needs and success drivers reported by adults with autism are the same or different from the needs and success drivers reported by parents of adults with autism.
Methods: The Autism Science Foundation (ASF), UJA-Federation of New York (UJA), and the Interactive Autism Network (IAN) collaborated to develop an online questionnaire to survey the needs of this population. The survey included 68 open and closed ended items, focusing on a range of topics including education, employment, and leisure activities. Contingency items were used to further explore responses where applicable. A hyperlink directing respondents to the survey was disseminated via email, social media platforms, and mailing lists. A convenience sampling method was used: ASF and UJA informed prospective participants and organizations of the survey's impending release and interested individuals registered to receive or distribute the survey once IRB approval had been received. Respondents who did not pre-register but were made aware of the survey through word-of-mouth, email, networks, or social media were still eligible to participate. Participants fell into one of three categories with an enrollment goal of 100 per group: independent adults with ASD not under legal guardianship and between the ages of 18 and 35; parents of an independent adult with ASD aged 18-35; and legally authorized representatives (legal guardians) of a dependent adult with ASD aged 18-35. The survey was open for responses for a two-month period.
Results: The study found that most adults with ASD viewed having positive relationships and family support as helpful to leading meaningful lives, but their biggest obstacles were their inability to navigate the system of services and advocate for themselves, along with organizational and social problems. Independent adults with ASD also said that they were laid off from their jobs mostly because of social issues, and those problems also prevented them from being finding other work. Adults with autism reported that being able to use their skills in a field of their interest was the most important factor in job satisfaction.
An Internet-Based Randomized Controlled Trial of Omega-3 Fatty Acids for Hyperactivity in Children with ASD
(Bent, S., Hendren, R.L., Zandi, T., Law, J.K., Widjaja F., Choi, J.E., Nestle, J., Law, P.A., 2013)
Presentation Date: May 2013
Background: Complementary and alternative medical (CAM) therapies, such as omega-3 fatty acids, digestive enzymes, and high-dose vitamins are widely used to treat ASD despite little or no evidence of efficacy and safety. Traditional, clinic-based randomized controlled trials (RCTs) of therapies for ASD are expensive and extremely slow, often taking several years and many millions of dollars to complete. We sought to evaluate one of the more promising CAM therapies, omega-3 fatty acids, with a novel, fully internet-based clinical trial methodology to both evaluate the efficacy of omega-3 fatty acids and determine if internet-based RCTs (IB-RCTs) in ASD are feasible. Omega-3 fatty acids were selected because hyperactivity is a common problem among children with ASD and standard treatments (e.g., psychotropic medications) have unpredictable effects and more side effects in children with ASD. Two prior small pilot studies have found trends suggesting that omega-3 fatty acids may reduce hyperactivity in children with ASD.
Objectives: The goal of this study was to determine if the daily use of omega-3 fatty acids reduces hyperactivity compared to placebo in children with ASD and elevated baseline levels of hyperactivity. Secondary goals included assessments of change in social functioning, other ASD-related behaviors, and an evaluation of the performance of the IB-RCT.
Methods: This IB-RCT randomly assigned consented children ages 5-8 with ASD and elevated levels of hyperactivity to take 1.3 grams of omega-3 fatty acids daily vs. placebo over a 6-week period. The primary outcome measure was a comparison of the change in the hyperactivity subscale of the parent and teacher-administered Aberrant Behavior Checklist (ABC-H) between active and placebo groups. Secondary outcome measures included parent-completed Social Responsiveness Scales and Global Clinical Impression-Improvement scores. All study procedures, including recruitment, informed consent, assessment of inclusion and exclusion criteria, and collection of baseline and outcome measures took place over the internet. The diagnosis of ASD was established by parent report and by a threshold score on the Social Communication Questionnaire, a method which has been validated in earlier studies. This study was conducted using IAN?s online tool, ORCA, which allows researchers to fully automate, track, and monitor complex protocols.
Results: The study opened for enrollment on September 18, 2012. As of October 9, 2012 (exactly three weeks into enrollment), 40 children from 22 U.S. states completed all enrollment procedures including engaging the child?s teacher. After being randomized into the control group or the treatment group (double-blind), these 40 subjects are currently involved in different stages the trial. Fifty-four additional families have completed informed consent and are currently involved in the screening process. The trial and data analysis is targeted for completion by the end of 2012.
Conclusions: The IB-RCT method is a faster and less expensive clinical trial design than a conventional clinical trial design for the evaluation of many safe interventions. IB-RCTs can play a pivotal role in evaluating many commonly used, but unstudied interventions in ASD. Evidence from this study on the efficacy of omega-3 fatty acids will be available by end of 2012.
Unmet Healthcare Needs of Children with ASD and Their Families
(Farmer, Clark, Mayfield, Marvin, Kalb, & Law, J.K., 2011)
Presentation Date: May 2011
Background: Recent research has shown that children with autism spectrum disorders (ASD) experience more difficulty accessing quality primary care services through the medical home than children with other chronic health conditions. However, unmet specialty care needs in this group are not well defined. Additional research is needed to identify gaps in care and strategies for improving access at both the state and national levels.
Objectives: The objective of this project was to conduct a fine-grained study of the unmet health care and family support needs of a US sample of children with ASD using a national autism registry. A secondary objective was to examine unmet needs in a Midwest state in comparison with national trends.
Methods: A 73-item Access to Care Questionnaire was designed for this study. Most questions were selected from the 2005/06 National Survey of Children with Special Health Care Needs (with author permission). The sample was drawn from families who were enrolled in the Interactive Autism Registry (IAN), a national, voluntary, online autism registry. A link to the questionnaire was emailed to 2,422 families, and the survey remained available for parents to complete for a 5 month period. There were 376 respondents in total (16% response rate), with 97 of these participants from the targeted Midwest state. Mean child age was 9.7 years (SD=3.9); 82% were male. Other IAN data on characteristics of the respondents were also used in data analyses (e.g., ASD diagnosis, Social Communication Questionnaire [SCQ] total score).
Results: Unmet needs in the Midwest state did not differ from national data, so only national findings are described. On a global access item, approximately one-third of parents (31%) indicated that needed care was delayed or their child went without care in the past 12 months. In response to a list of specialized services, nearly two-thirds of respondents (65%) with a child who needed behavioral therapy were unable to access this service. Other frequently reported unmet child needs were for communication aids/devices (53%), occupational/physical therapy (46%), speech/language therapy (42%), and mental health services (41%). When asked about family support services, parents described unmet needs for respite care (70%), genetic counseling (69%), and family mental health services (63%). The main reasons for access problems were cost and health plan barriers. Factors associated with unmet needs were minority status, lower family income, lower child functional status, poorer physical health, and a greater number of autism symptoms on the SCQ. Unmet needs did not differ by ASD diagnostic category.
Conclusions: This study extends and refines the results of other research on access to care for those with ASD. A large percentage of children and families do not receive needed specialized services. Significant health disparities were noted for children with ASD from minority and low-income groups and for those with more complex and disabling conditions. These findings can be used to shape public policy and service delivery systems at both the state and national levels.
The Association Between Maternal Depression and Comorbid Psychopathology in Children With Autism Spectrum Disorders
(Zablotsky, Kalb, & Law, P. A., 2011)
Presentation Date: May 2011
Background: The majority of children and adolescents with Autism Spectrum Disorders (ASDs) present with comorbid psychopathology (Brereton et al. 2006; Joshi et al., 2010). As the presence of psychiatric comorbidity has been noted to worsen ASD symptomatology (Wozniak et al., 1997), parents raising children with multiple psychiatric disorders are likely to experience tremendous amounts of stress that may be further compounded by other child-related factors (e.g. ASD symptom severity) (Benson, 2006) along with a parent's own diathesis towards psychopathology. These factors may result in an increased risk for parental depression (Abbeduto et al., 2004; Bromley et al., 2004). The present study explores the association between parental depression and the presence of comorbid psychopathology in children with an ASD.
Objectives: 1) Identify predictors of maternal depression in a sample of ASD children with comorbid psychopathology. 2) Evaluate the potential for increased risk of parental depression as the number of comorbid psychopathology disorders increase.
Methods: A restricted sample of 1270 mothers of children with an ASD was obtained from the Interactive Autism Network (IAN). IAN is an online, national voluntary registry of families who have children with an ASD, consisting of over 10,000 children with an ASD and 20,000 family members. A self-reported clinical diagnosis of depression was selected as the outcome of interest, with number of child comorbid psychiatric conditions serving as the main predictor.
A three-stage sequence of multiple logistic regression models was developed to estimate the Odds Ratios (ORs) for the association between a maternal report of clinical depression and the number of comorbid diagnoses possessed by her child with ASD. Model 1 controlled for basic child demographics (age, gender, race, ethnicity), Model 2 controlled for parent and family demographics (number of children, parental education level), and Model 3 added the child's ASD diagnosis.
Results: An adjusted model revealed significantly increased ORs for parental depression for children with 1 comorbid diagnosis (OR=1.43, 95% CI: 1.16, 2.04, p=0.003), 2 comorbid diagnoses (OR=2.44, 95% CI: 1.61, 3.69, p<0.001), and 3 comorbid diagnoses (OR=2.87, 95% CI: 1.46, 5.62, p=0.002) when compared to children with no comorbid diagnoses.
These associations remained significant across all three models, as well as with the unadjusted model. Parents of older children were less likely to experience depression (OR=0.64, 95% CI: 0.41, 0.99, p=0.045).
Conclusions: Unique to the literature, this study demonstrates a significant increased risk of parental depression accompanying an increase in the number of child comorbid disorders. These results align with previous studies indicating increased levels of parental stress, along with the presence of behavioral problems in children with ASDs (Davis & Carter, 2008; Lecavalier, Leone, & Wiltz, 2006). Taken together, these results highlight a real risk for the development of clinical depression for already stressed parents of children with ASDs. Future research should continue to evaluate risk and protective factors for parental depression; incorporating the role additional child psychopathology may play.
Determinants of Survey Completion in Online Autism Research
(Law, P. A., & Kalb, 2011)
Presentation Date: May 2011
Background: As familiarity and use of the internet increase, health researchers have found the online environment to be a viable mechanism for data collection. Online research is attractive because of its superior inclusiveness and low cost compared to center-based research. As with any mode of research, however, internet-mediated research (IMR) has its own particular issues with regards to bias and non-response. Non-response must be systematically addressed since the sample becomes more biased (and less generalizable) as non-response rate increases. In order to best utilize IMR for ASD research, patterns of non-response need to be understood and overcome.
Objectives: To examine the child, family, geographic, and survey-related factors associated with non-response in the largest autism IMR platform.
Methods: Data for this study were collected from parents of children aged 2 to 17 years (M = 9.04 years) with an autism spectrum disorder (ASD) who were engaged in a U.S.-based online research initiative: the Interactive Autism Network (IAN). Parent (age, education, # of total children, # of affected children, family structure, and rurality) and child (diagnosis, age, gender, and race) factors were attained through questionnaires filled out upon IAN registration. Survey-related factors, including form type, and time since registration in IAN, were captured for two surveys, one focused on access to care and one exploring child vaccination history. Logistic regression models were used to estimate the association between non-response to survey and other factors.
Results: A total of 21,535 survey instances were examined, of which 4,963 or 23% were completed by the parent. In the final multivariate model, increasing child age, greater number of affected children, and increasing duration since registration with IAN were risk factors for non-response (all p<.001). Higher parental education, two-parent household, Caucasian race, and rurality were protective (all p<.01). In addition, parents were more likely to respond to surveys focusing on their affected child rather than unaffected siblings (p=.001).
Conclusions: To our knowledge, this is the first study to examine predictors of online survey non-response in autism research. Compared to previous IMR studies, the response rate in IAN was higher which may be due to the multifaceted nature of IAN. In contrast to typical one-time online surveys, IAN is an active environment that engages parents not only through surveys and additional research opportunities, but through its IAN Community e-newsletter, discussion forums, and research reports. In regards to predictors of survey non-response, data from this study demonstrates both family and survey-related variables play an important role. Since all subjects were already a part of the IAN research project, the differential response rates reflects issues surrounding retention rather than recruitment. Researchers should look towards developing tailored strategies that promote representative research through active enrollment and continued engagement of subjects in online autism research.
Grandparents of Children With ASD
(Anderson, Cohen, Law, J. K., & Law, P. A., 2011)
Presentation Date: May 2011
Background: Raising a child with an ASD is demanding, both emotionally and financially, and high levels of parent distress are reported. Members of the extended family, particularly grandparents, are also affected, yet little is known about the extent of grandparents' participation in supporting families of children with ASD, or about the impact that having a grandchild with an ASD has on the grandparents themselves. Much of the scant literature that does exist on the topic focuses on grandparents' views of the child with ASD and of that child's impact on the parent rather than on the grandparent's own experience, contribution, or needs.
Objectives: The current study explores the impact of having a grandchild with an ASD on the grandparent, addressing both the level of grandparent involvement in the lives of children with ASD, and the effect of having a grandchild with an ASD on these grandparents in emotional, social, and financial terms.
Methods: Information was collected from grandparents of children with ASDs via an online survey. Only grandparents who lived within the United States or its territories were eligible to participate. The survey, which was created in consultation with the Grandparent Autism Network and other volunteer grandparents, was deployed on Survey Monkey and announced via the Interactive Autism Network (IAN) Community, AARP, and Autism Speaks. Grandparents could report on up to 3 separate grandchildren with an ASD.
Results: More than 2,500 grandparents completed the survey. Of these, 83% were grandmothers and 17% were grandfathers. Two-thirds were maternal grandparents, while one-third were paternal grandparents. Fifteen percent reported having more than one grandchild with ASD. Three percent reported that they also had a child who had been diagnosed with an ASD, while an additional 8% said they suspected one of their adult children should have received such a diagnosis, but had not. Many grandparents played a vital role in early recognition of their grandchild's ASD. Fully 30% said they were the first to notice a problem with their grandchild's development. (Many of those who felt concerned hesitated expressing this, which may indicate grandparents need support and resources in order to play a role as potential early identifiers of ASD.) An additional 49% said they encouraged and supported another person who was first to suspect the disorder. Many provided support to the grandchild's family, with 57% contributing financially to meet ASD-related needs. In addition, 34% provided child care and 18% provided transportation to school or appointments at least once a week. More than 7% had combined households with their grandchild's family, and 14% had moved closer, to help with ASD-related issues. In addition to expressing worry for their grandchildren, 85% experienced "a moderate" or "a great deal" of worry for their adult child (the parent).
Conclusions: Researchers, advocates, and policymakers seek a more in depth understanding of the effect of ASDs on families and society. This study provides a very large set of preliminary data on the impact of ASDs beyond the nuclear family.
IAN Genetics: An Automated Web-Based System for Rapid Phenotyping, Enrollment, and Genetic Sample Collection
(Marvin, et al., 2011)
Presentation Date: May 2011
Background: A sufficient supply of genetic samples does not exist for comprehensive identification of autism risk alleles. Lee et al. (2010) established accuracy via clinical confirmation of a web-based approach to rapid phenotyping of autism using parent report of community diagnosis and scores on the SCQ-Lifetime.
Objectives: To create a web-based, automated mechanism for large-scale rapid phenotyping and biomaterials collection.
- Eligibility: Aged 4-17 years; Simplex ASD (and one unaffected sibling, if any) or twin set with one or both siblings affected; Participation (or willingness to participate) in US autism registry/database (requiring professional diagnosis of ASD to join).
- A protocol was developed using LabCorp as the primary blood-draw collection, genomic purification and storage site.
- An online consent was integrated into the registry form/questionnaire set.
- Upon electronic consent, the system generates and emails the following materials to the consenting parent within 1 minute (a copy is also sent to the study's email so that it can be resent upon request):
- Welcome Email;
- Instruction sheet (PDF attachment) stamped with child's name, Research ID, and DOB; contains link to LabCorp site and a social story;
- LabCorp Requisition (PDF attachment) stamped with child's Research ID, plus a second explanatory page for LabCorp staff. Does not contain PHI.
- Within one minute of receipt of weekly LabCorp report, the system generates emails containing Amazon gift codes. If a completed SCQ-Lifetime is not detected, the system generates an "SCQ reminder" email. Once the subject completes the SCQ-Lifetime, the system generates the "gift code" email.
- An email is generated and sent to the study email box when an unconsented child has "aged out" of the study. Currently, manual intervention is required to check whether siblings should be added or removed from the study, although a web-based tool helps staff add or remove subjects.
- A web-based tracking system indicates status, days-since-consent, distance from nearest LabCorp, email, etc. This is used in reporting and in follow-up communications with parents of children consented but for whom we have no record of the blood-draw being completed.
- A study was performed to determine barriers to completion of blood-draw among consented participants. As a result, the follow-up procedure includes forwarding of the original welcome email and attachments (which, in many cases, have been misplaced). We are also developing an alternative mechanism to enable participation for those unable to reach a LabCorp site.
- Currently, children are not automatically added to the study: a list of qualifying children is uploaded into the system, which then assigns the online consent into each child's form/questionnaire set.
- As of 12/10/2010, 433 children (affected=271, 63%) from 43 US states have been consented, with 121 (affected=72, 60%) reported as completing the blood-draw so far.
- The system has enough capacity to handle all requests without concern for oversaturation.
- Automation of the workflow has minimized staffing needs.
Conclusions: Web-based automation of subject recruitment and coordination of sample collection has been shown to be successful and cost effective.
Inherited ASD Susceptibility in Never-Diagnosed Females: Implications for Intergenerational Transmission, Gender Ratio, and the Diagnosis of Autism
(Constantino, & Law, P. A., 2011)
Presentation Date: May 2011
Background: Traditional diagnostic paradigms for social-communicative impairment result in the most severe 1.4% of the male population distribution being categorized as having an Autism Spectrum Disorder (ASD) in childhood. The same paradigms result in only the most severe 0.5% of the female population distribution being categorized as ASD.
Objectives: To ascertain the range of phenotypic severity that encompasses inherited ASD symptomatology among females, and to explore whether latent ASD susceptibilities are as likely to be transmitted by undiagnosed sisters of individuals with ASD as by their undiagnosed brothers.
Methods: We analyzed parent-report data on the autistic symptomatology of siblings of children with ASD enrolled in a national volunteer register (the Interactive Autism Network, IAN, http://ianproject.org) to determine the range of standardized cutoff scores over which prevalence among females (n=854) represents a significant departure from general population prevalence. Next we explored intergenerational transmission in 209 pedigrees of ASD-affected children in a longitudinal sibling study at Washington University in St. Louis, specifically addressing the question of whether ASD susceptibility represented by clinical-level affectation status of uncles (full biological male sibs of the parents) occurred more commonly in maternal versus paternal lines. ASD status of uncles was reported by parents of probands, operationalized by DSM-IV diagnostic criterion endorsement, and confirmed by standardized symptom severity ratings.
Results: When considering a series of standardized severity cutoffs for designation of affectation status, prevalence among female siblings of ASD probands significantly exceeded general population prevalence through the 5th percentile cutoff. Relative risk (RR) of sisters of ASD probands exceeding a 1st percentile cutoff was 8.0 (eight times the general population risk for girls); RR for exceeding the 5th percentile cutoff was 2.0 (p <.001); these figures are conservative given rater contrast effects which tend to reduce severity scores of presumed-unaffected siblings in ASD-affected families. With respect to the pedigree data, 3.1 per cent of uncles of ASD probands were reported to have clinical-level ASD symptomatology (representing at least triple the general population prevalence for ASD in adult males; p<.01) -- this proportion was not significantly different between paternal and maternal lineages.
Conclusions: Use of arbitrary, non-standardized cutoffs for case designation (as occurs when using traditional diagnostic assessments for ASD) results in marked underestimation of ASD-related-susceptibilities in females and inflates estimation of the male:female gender ratio for autism, which may, in part, be explainable by a subtle shift (0.25 SD) in the population distribution for social communicative impairments between boys and girls. Undiagnosed mothers are at least as likely as undiagnosed fathers to transmit to their offspring that aspect of familial ASD susceptibility represented by affectation status of their own siblings. These data warrant revisions to the manner in which ASD-related susceptibility and symptomatology are ascertained and characterized among females.
Provision of Transition Services for Children With Autism Spectrum Disorders
(Cheak-Zamora, Farmer, Mayfield, Law, J. K., & Marvin, 2011)
Presentation Date: May 2011
Background: Approximately 500,000 children with special health care needs (CSCHN) make the transition from a pediatric to an adult provider each year (Reiss & Gibson, 2002). The need for transition services for this population puts a strain on the health care system, as well as the affected child and their families. Unfortunately, we know little about the accessibility or provision of health care transition services within the children with Autism Spectrum Disorder (ASD) population.
Objectives: To determine how often children with ASD receive transition services and whether this rate fluctuates due to individual characteristics.
Methods: An Access to Care Questionnaire was sent by electronic mail to 2,422 families of children that were enrolled in the Interactive Autism Network (IAN) registry. A total of 118 eligible participants (12-18 years of age) completed the survey. Adequate transition services were defined as having had at least one of three discussions about transition of care and one question regarding encouragement (see table). Chi-square and ANOVA were used to determine characteristics associated with of provision of adequate transition services and each component measure.
Results: Fewer than 15% of children with ASD met requirements for receiving adequate transition services (both discussion and encouragement occurred). Analysis of discussion questions found 14.6% had a discussion about transitioning to an adult provider, 17.7% had a discussion about adult health care needs, and 19.5% had a discussion about health insurance continuation. Analysis of the encouragement question found 30.1% had discussions (usually or always) with a health care provider about responsibility.
Children with ASD who received adequate transition services was associated with having a mother with less than a bachelor's degree (χ2(2)=6.96, p<.03), $250-$500 in out-of-pocket expenses for child's health care (χ2(5)=18.8, p<.002), financial problems caused by child's health care ( χ2(1)=4.12, p<.04), dual-parent household (χ2(3)=13.55, p<.004), increased number living in the household (χ2(6)=15.83, p<.01), and increasing age of the child (F(1, 92)=3.76, p<.05).
Conclusions: Very few children with ASD receive adequate transition services (15%). Individual and family characteristics, such as child's age and diagnosis are related to the provision of adequate transition services and the individual components of such. These finding can be used to educate providers and develop interventions to improve the provision of health care transition services for children with ASD.
SSC@IAN - A Model for Long-Term Follow-up
(Zandi, et al., 2011)
Presentation Date: May 2011
Background: The Simons Simplex Collection (SSC), a project of the Simons Foundation Autism Research Initiative (SFARI), is establishing a repository of genetic and phenotypic information from nearly 3,000 simplex families. The Interactive Autism Network (IAN), an online research initiative with more than 30,000 participants, provides raw data and subject recruitment assistance to qualified researchers. Now, the SSC has partnered with IAN to coordinate future phases of the SSC project and to maximize its usefulness to the autism research community.
Objectives: SSC@IAN will provide a vehicle for long-term engagement of SSC families -- originally recruited through 13 university-based sites -- for a wide variety of longitudinal research efforts carried out both online and in clinic. New data from SSC families consenting to participate in SSC@IAN will be combined with their data collected through the original SSC protocol and made available to researchers via the Simons Foundation's online research database, SFARI Base. These efforts will provide the autism community with additional and expanding perspectives through which to explore the SSC population. This innovative collaboration will maximize the benefit the autism community derives from participating families' contributions, now and into the future.
Methods: The Simons Foundation and IAN have formed multiple working groups to facilitate the creation of SSC@IAN -- an integration of two complex research networks. Challenges overcome include coordinating technology/software, communicating the SSC@IAN concept to SSC sites' staff, IRBs, and families, and formulating a longitudinal study plan. In the next stage, SSC Site Coordinators will reach out to SSC families, seeking their permission to share their contact information with IAN. Once permission is received, IAN will invite families to join SSC@IAN, and will register them via an online SSC@IAN consent approved by the Johns Hopkins Medical IRB. IAN will continue to work with SSC staff to securely use IAN and original SSC data for subject recruitment activities. Finally, each family's de-indentified IAN data will be sent to SFARI Base.
Results: Communication and training materials to help transition families into SSC@IAN have been developed, and IAN has built the online consent form that will make a family part of the special SSC registry and longitudinal study within IAN. Information technology infrastructure for project tracking and for data transfer to SFARI Base is in place. Families will begin to enroll in January 2011, and it is anticipated that all SSC families will have the ability to join the initiative by the end of 2011, maximizing the usefulness of SSC data and recruitment for the autism research community.
Conclusions: SSC@IAN represents a unique collaborative model that combines the advantages of a self-limited research project with an online longitudinal protocol and follow-up system. Both powerful and cost effective, this model for ASD research will have the breadth and depth necessary to address this incredibly heterogeneous and complex disorder into the future.
Validation of Proposed DSM-5 Criteria for Autism Spectrum Disorder
(Frazier, et al., 2011)
Presentation Date: May 2011
Background: Proposed DSM-5 criteria posit a single autism spectrum disorder (ASD) category with two symptom criteria sets -- social communication and interaction and restricted, repetitive behavior. Recent work from our group has found a latent categorical distinction between ASD and typical autism symptom levels and numerous studies support a broad range of autism symptom severity spanning both social communication and repetitive behavior domains.
Objectives: The primary purpose of the present study was to examine whether parent-reported symptom data from a large internet registry support the validity of the structure of proposed DSM-5 diagnostic criteria. The study also evaluated whether proposed DSM-5 criteria showed enhanced sensitivity and specificity to autism relative to DSM-IV-TR criteria.
Methods: Data were obtained from the Interactive Autism Network (IAN; N=14,744). IAN preferentially recruits families with at least one affected child who has been diagnosed with an ASD. Caregivers reported autism symptoms using the Social Responsiveness Scale (SRS) and the Social Communication Questionnaire (SCQ). Exploratory factor (FA), latent class (LCA), and factor mixture (FM) models were computed for each measure and across the total sample and a parent-designated unaffected sibling sub-sample. Empirical classifications from FM models were compared to parent-designated affected status. Additionally, SCQ and SRS symptoms were mapped onto specific DSM-5 and DSM-IV-TR criteria. DSM-5 and DSM-IV-TR criteria were then used to predict parent-designations and empirical classifications of ASD using diagnostic efficiency statistics.
Results: Two-factor/two-class FM models showed superior fit to FA and LCA models and replicated across measures and in the total sample and unaffected sub-sample. The two factors were represented by social communication and repetitive behavior indicators. Factor means and variances supported the presence of autism and non-autism classes with broad, overlapping symptom distributions. Classes closely mirrored parent-designated affected and unaffected status (κ=.78; classification % overlap=89%). Social communication and repetitive behavior factors showed strong correlations in the autism-affected (r=.76) and unaffected groups (r=.84). Proposed DSM-5 criteria showed superior specificity relative to DSM-4 criteria (.97 vs. .87), however sensitivity was weaker (.81 for DSM-5 vs. .95 for DSM-IV-TR). Relaxing DSM-5 social communication criteria to 2 of 3 criteria met instead of the proposed 3 of 3 criteria increased sensitivity (relaxed .88 vs. proposed .81), without substantively reducing specificity (relaxed .96 vs. proposed .97).
Conclusions: The validity of DSM-5 criteria was supported, with the exception that requiring only 2 of 3 social communication criteria may enhance sensitivity with minimal decrease in specificity. The strong correlation between social communication and repetitive behavior domains in the autism category supports the requirement for symptom criteria to be met in both domains. A categorical autism distinction reinforces the need for an evidence-based medicine approach to ASD diagnosis where post-test probabilities are iteratively generated using the population or clinical base rate and non-redundant predictors of ASD diagnosis. The lack of additional sub-categories within ASD substantiates the validity of a broad categorical diagnosis containing two sub-dimensions. Genomic and neurobiological research may benefit by using mixed models that accommodate both the categorical and dimensional nature of ASD symptoms.
Putting Shared Information Resources to Work: How to Help the Autism Community, Researchers, and Practitioners Through the IAN Project
(Law, P., & Cohen, C., 2010)
Presentation Date: November 2010
Program description: This presentation provided practical tools to enable attendees to use the data resources and services provided by the Interactive Autism Network (IAN). IAN provides data collected from its 33,000 research participants to qualified researchers, a subject recruitment matching service, and interactive dashboards, displaying public policy data in real time.
Associations Between Maternal Affective Disorders and Specific Characteristics in Children With Autism Spectrum Disorder
(Vasa, et al., 2010)
Presentation Date: May 2010
Background: Elevated rates of affective disorders have been consistently reported in family members of children with autistic spectrum disorder (ASD). Evidence shows that the onset of parental depression and anxiety predates the birth of the child with ASD. A small number of studies suggest a link between maternal depression and specific child ASD characteristics, such as higher cognitive functioning. These data suggest that common genes or endophenotypes may underlie autism and familial affective disorders. Further research on this relationship carries implications for delineating ASD subgroups as well as developing targeted interventions.
Objectives: To examine the relationship between maternal affective disorders and specific characteristics of autism spectrum disorder (ASD) in their children in a large sample of families participating in a national online ASD research project.
Methods: Mothers completed online questionnaires regarding their own as well as their affected offspring's psychiatric history. Relationships between maternal mood disorder status (history of depression or bipolar disorder vs. no history of mood disorder) and characteristics of their eldest child with ASD were explored. Multivariate regression analyses examined whether each maternal affective disorder predicted the following ASD outcomes: high cognitive functioning, child emotional disorders, and multiplex family status.
Results: 5.6% of participating mothers reported receiving a diagnosis of bipolar disorder by a health professional, while 32.4% reported being professionally diagnosed with major depression, dysthymia or a hormonally-based depressive disorder. Seventy percent of mothers with a professional diagnosis of depression had their initial onset of depression prior to having children; this group endorsed higher rates of depression recurrence, psychiatric hospitalization, suicidal behavior, and family history of affective disorder. Maternal depression was associated with a diagnosis of Asperger's Disorder, older child age at ASD diagnosis, child psychiatric comorbidities, and multiplex family status. Maternal bipolar disorder was more strongly associated with all of these same characteristics, as well as child comorbid bipolar disorder and a child IQ of 116 or above.
Conclusions: Maternal affective disorders predict a specific profile in children with ASD. These data suggest that common pathophysiological mechanisms may underlie these two types of disorders.
Autism Spectrum Disorders: A Dimension or Sub-Categories?
(Frazier, Embacher, Law, P. A., & Constantino, 2010)
Presentation Date: May 2010
Background: Our group has recently found that many cases of autism spectrum disorders (ASDs) represent a category, qualitatively distinct from typical (non-autism) behavior in clinically ascertained samples (Frazier et. al., in press). The next question concerns whether a broad autism category is composed of sub-categories or is best characterized as a dimension of symptom severity when only autism-affected youth are examined. A recent study addressing this question identified unique sub-categories based upon dysmorphology/head circumference, social communication, and verbal/non-verbal ability scores (Ingram et al., 2008). However, interpretation of these findings is complicated by the aggregation of two different samples, a design feature which may bias toward category identification.
Objectives: The present study examined whether autism symptoms would identify sub-categories or a dimension of symptom severity, consistent with the notion of an autism spectrum. This distinction is relevant to future DSM nosology, screening and diagnosis, genetic and neurobiological study design, and identification of differential treatment effects.
Methods: Data were obtained from the Interactive Autism Network (IAN) and Autism Genetic Resource Exchange (AGRE) samples and analyzed separately to determine whether results replicate across samples and indicator sets. IAN preferentially recruits families with at least one affected child who has been diagnosed with an ASD. In the IAN sample, caregivers reported autism symptoms using the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS). In the AGRE sample, parents were interviewed using the Autism Diagnostic Interview-Revised (ADI-R). Autism symptom indicator sets were derived from each measure in each sample. Taxometric and latent variable models evaluated whether 1-group (dimensional) or 2-group (categorical) models fit the data better across indicator sets, demographic sub-samples, and IAN/AGRE samples. These models are "blind" to diagnostic status and thus provide an empirical test of whether sub-categories or a dimension best describe the data.
Results: In the IAN sample, 6875 and 2575 autism-affected participants had SCQ and SRS data, respectively. In the AGRE sample, 889 autism-affected individuals had ADI-R data. Results indicated that dimensional models fit the data better than categorical models. This was true across all taxometric and latent variable procedures, indicator sets, demographic sub-samples, and IAN/AGRE samples.
Conclusions: Previously, our group found that ASDs are best conceptualized as a category distinct from typical behavior. The present findings suggest that this broad category includes a continuum of symptom severity. Together, these findings suggest that ASDs may be conceptualized as a single, discrete entity that is distinct from typical behavior but that shows large variation in symptom severity. This conclusion does not rule out the possibility of autism sub-groups. However, the results imply that indicators beyond autism symptoms, such as cognitive or biological indicators, will be needed to identify autism sub-groupings.
Immunization Beliefs and Practices Among Autism Families
(Law, P., Law, J. K., Rosenberg, Anderson, & Samango-Sprouse, 2010)
Presentation Date: May 2010
Background: There is public concern about a link between routine childhood vaccines and adverse neurological outcomes, specifically the autism spectrum disorders (ASD), focusing on vaccine thimerosal content; measles-mumps-rubella (MMR) vaccine and intestinal disease; and perceived immunologic burden of vaccines. Direct quantitative impact of this controversy on families with ASD-affected children has not been extensively evaluated.
Objectives: The objective of this study was to survey and analyze vaccination beliefs and practices among families who have at least one child with an autism spectrum disorder (ASD).
Methods: Data on 2090 children with ASD and 1151 unaffected siblings provided by 1974 families was used to examine individual, family, and secular factors associated with vaccine-related beliefs about ASD and immunization practices among affected individuals and younger siblings, using ordinal and multinomial logistic regression.
Results: Roughly half of families believed that there "may be" (29.9%) or "definitely is" (15.3%) a link between a child's ASD and immunizations. Odds of increasing belief were associated with increasing severity of a child's skill loss (OR range, 2.2 - 4.9; p<.001) and lower maternal education status (graduate degree, OR .48, p<.05). Overall proportion of families omitting or delaying vaccination of initial childhood series was higher among siblings born after older siblings first showed developmental signs (24.5%), especially in the case of measles-mump-rubella vaccine (19.6%). Degree of belief, higher maternal education, and younger cohort were significantly correlated with delaying and/or omitting vaccines in younger siblings in the multinomial logistic regression model. Maternal education was also correlated with changing providers.
Conclusions: Belief in a vaccine-autism link and vaccination practices vary widely among families of children with ASD. Pediatricians should be prepared to explore vaccine-autism beliefs and provide in-depth guidance regarding vaccinations for such families; further research focusing on the experiences and concerns of these families is needed.
Interactive Autism Network (IAN): Towards an Efficient and Responsive Online Research Infrastructure
(Law, P., Cohen, & Law, J. K., 2010)
Presentation Date: May 2010
Background: Lack of efficiency in subject recruitment and data collection, and lack of public trust in the medical and research establishments, have historically compromised the pace of autism spectrum disorder (ASD) research, especially genetic/etiologic, therapeutic, and health services studies. Given the increasing prevalence of ASD and resulting societal burden, governments and non-governmental organizations have begun to invest in optimizing research efforts by enhancing research infrastructure and emphasizing collaboration among scientists, the community, providers and policy-makers.
Objectives: To demonstrate the potential and viability of an online system to collect extensive longitudinal information about individuals with ASD and their families, provide the research community with a valid scientific dataset, link the dataset to other sources including clinical databases, recruit subjects for a vast array of research projects, involve the public in research priority setting, and educate the public about the importance of research.
Methods: IAN developed an online system consisting of a longitudinal research study and a community that fosters bi-directional exchange between families and researchers. The IAN study uses the Health Research Management Platform (HRMS) developed by Medical Decision Logic, Inc. Parents or guardians of individuals with ASD and independent adults with ASD use this platform to answer questions about themselves and their families, including the completion of standardized autism-related assessment instruments. The extensive data collected, along with appropriate subject consent, enables the project to provide recruitment assistance for U.S. research projects and a large longitudinal dataset internationally. A web-based authoring environment supports ongoing development based on the information needs and collaborative efforts of families and individuals with ASD, researchers, policy makers, and the therapeutic community. IAN hosts a website with interactive and community features that provides opportunities for the public to discuss and learn about ASDs and ASD research, fostering subject participation, community involvement, and researcher/community trust.
Results: From April 2007 to November 2009, the study consented 31,689 individuals with ASD and their families: 11,749 are children and 516 are adults diagnosed with an ASD. More than 230 research projects have applied for or are using IAN subject recruitment services or data. The IAN Community has over 14,000 members and is visited by approximately 1,000 people per day. Over 15,000,000 pages have been viewed. An information dashboard that supports policy decisions at a state level was developed in collaboration with the Missouri government. IAN has been funded by the National Institutes of Health to integrate its data with the National Database for Autism Research (NDAR), which will, in turn, link to other important research datasets. Two ongoing data validation studies of parent-reported data will be completed by the May 2010 meeting. IAN is currently funded to assist in the collection of biomaterials from 2400 families, doubling the number of available ASD individual samples worldwide.
Conclusions: IAN demonstrates that online research environments are feasible, and can have a powerful impact in facilitating disease-specific research and public knowledge in a short period.
Redefining Sibling "Recurrence": Language Delays Affect 21% of Otherwise-Unaffected Siblings of ASD Probands
(Constantino, Zhang, & Law, P. A., 2010)
Presentation Date: May 2010
Background: A number of recently identified genetic mutations observed in excess in autism have (each) been associated with wide variations in clinical phenotype. Given these observations, we sought to determine whether specific language disorder phenotypes might constitute a form of "recurrence" among otherwise unaffected siblings of children with autism spectrum disorders (ASD).
Objectives: To examine the prevalence and characteristics of language delay among the ASD-unaffected siblings of children with autism, in a large national volunteer register.
Methods: Using data obtained from the Interactive Autism Network (IAN) registry, we studied 2,945 children from 1,242 unselected ASD-affected families who met the criteria of having at least one child clinically-affected by an autism spectrum disorder (ASD) and at least one full biological sibling. For each of the children in the study, parents provided data on whether or not the child had a) a clinically-documented ASD diagnosis or b) a clinically-diagnosed language delay or speech problem. In addition, parents completed the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS) on each child.
Results: The occurrence of a categorically-defined ASD in an additional child occurred in 11.7 percent of the families; this percentage was substantially lower (5.6%) when the proband was cognitively impaired, higher (14.0%) when the proband was verbal; and still higher (16.6%) when a verbal proband was in the top third of the quantitative severity distribution for social impairment. Across all family types, an additional 21 percent of presumed-unaffected siblings had a history of delayed language at age 4 years, which contrasts sharply with a published general population prevalence of 5-9% for such conditions. Half of the unaffected siblings with histories of delayed speech had distinctly autistic qualities of speech (use of odd or repetitive phrases, socially-inappropriate questions, pronoun reversal, or invented words) documented by the lifetime version of the SCQ. In the entire sample, positive endorsement of a history of these speech characteristics was significantly more pronounced in ASD-unaffected children with versus without parent-reported history of language delay (p<.001); was associated with a significantly higher level of sub clinical autistic social impairment than in unaffected children without these speech characteristics (mean SRS score 33.4 versus 16.7; t= -12.5; df= 713; p<.0001); and accounted for most of the excess prevalence of language delay designation in this sample over the general population prevalence.
Conclusions: These data suggest that language delays with autistic characteristics (including autistic qualities of speech and sub clinical social impairments) are extremely common among unaffected siblings of ASD probands, account for the excess in prevalence of language delay over what would be expected on the basis of general population prevalence, and constitute a form of sibling "recurrence" that may be highly relevant to genetic and neurobiologic studies of autism, as well as to studies of the development of infant siblings of ASD probands. Sibling recurrence in ASD exceeds previously published estimates, is highly variable with respect to severity, and its frequency varies (in a complex manner) as a function of proband type.
Validating the Accuracy of a Rapid Phenotyping Paradigm Using Web-Based Parent Input
(Lee, et al., 2010)
Presentation Date: May 2010
Background: Autism is known to be substantially inherited but specific molecular genetic abnormalities have only been identified for a small minority of all cases, indicating that there may be a large number of distinct genetic risk factors, each with relatively small explanatory power, either in the form of many rare strong effect variants, or common variants of modest effect. In order to delineate the genetic component of autism and identify specific genetic variants, sample sizes much larger than those currently under study will be needed. Despite tremendous efforts, only 3-4000 European-descent autism families are currently available for genetic study even with 15-20 years of sample collection and phenotyping effort.
Objectives: The objective of this study is to demonstrate the accuracy of a rapid phenotyping paradigm consisting of brief parent- and teacher-report questionnaires, and medical record documentation of autism spectrum disorder (ASD) diagnosis, in order to minimize the costs and time of sample recruitment in the interest of more rapidly increasing the available sample size.
Methods: Families were invited to participate via the online Interactive Autism Network (IAN). The IAN registry, which grows at 300 individuals per month, currently has over 11,000 families registered with at least one autistic child: less than 5% have participated in genetic studies, but indicate willingness to participate. In order to assess the diagnostic specificity of the recruitment procedure, an email recruitment letter was sent to ASD-affected families in which the probands were: verbal (this is the case for 74% of the families in IAN); age 4-18 years; living near UCLA, Kennedy Krieger Institute or Washington University, St. Louis; had Social Communication Questionnaire (SCQ-lifetime version) scores greater than or equal to 12 at the time of entry. These families were invited to one of the three clinics and assessed by ADI-r (Autism Diagnostic Interview-Revised), VABS (Vineland Adaptive Behavior Scale), an observational confirmation procedure (Autism Diagnostic Observation Schedule -- ADOS -- at 2 sites, expert-clinician observation at the third), followed by clinician best estimate diagnosis (BE).
Results: Interim analysis of the sample set was performed after 47 families were enrolled and assessed. 100% were ASD positive by BE and 100% were ASD positive by developmental history on the ADI-r. 91.5% were also positive by ADOS / clinical observation (this figure improved to 95% when excluding patients on the basis of sub clinical teacher-report Social Responsiveness Scale (SRS) score), suggesting that a few of the children with an established historical diagnosis may have substantially improved by the time of this study. There were no significant demographic or phenotypic differences between the enrolled probands and the larger population of verbal ASD subjects registered in IAN.
Conclusions: These data support the reliability of a rapid phenotyping paradigm for verbal subjects with ASD, and constitute a fundamental aspect of feasibility for large-scale efforts to advance -- by an order of magnitude -- the world collection of family-based biomaterials for autism genetic research.
Using Research to Promote Science Communication: Partnerships at Autism Speaks
(Halladay, Chukoskie, Rosanoff, Shih, & Cohen, 2010)
Presentation Date: April 2010
Summary: Autism Speaks is dedicated to facilitating global research into the causes, treatments, and prevention of autism, and an eventual cure. As part of this mission, Autism Speaks is dedicated to raising public awareness about autism and its effects on individuals, families, and society. In order to educate the public about scientific findings in autism, Autism Speaks supports the Interactive Autism Network, meetings and workshops on how to best disseminate information about autism, and collaborations that focus on early identification and intervention. Recently, the organization has engaged in a more aggressive communications approach, which includes weekly emails, a blog, and a Facebook page. This presentation outlined these initiatives as well as metrics of success.
Correlates of Specialized Public School Attendance Among Children With Autism Spectrum Disorders
(Daniels, Anderson, Law, K., & Law, P., 2009)
Presentation Date: May 2009
Background: According to the Individuals with Disabilities Education Act (IDEA), children with disabilities are entitled to education in the least restrictive environment, and placement outside the regular classroom or school environment should occur only when the nature of the child's disability exceeds a school's capacity to provide appropriate education. In consideration of the growing number of children being diagnosed with autism spectrum disorders (ASD), there is a need to better understand services provided by the public school system to these children and the extent to which children with ASD in specialized schools differ from those educated in more inclusive settings.
Objectives: The objective of this study was to assess correlates of specialized public school attendance among children with ASD.
Methods: Data from 3,746 school-aged children with ASD were collected from parents who completed a web-based questionnaire about their child as participants of the Interactive Autism Network (IAN) Research study. Parents were asked to report the type of school their child attended; specialized public school was defined as a school for children with special needs. Means and proportions were calculated for demographic and clinical characteristics as a function of whether a child was attending specialized public school. Group differences were tested to identify covariates significant at the p<.05 level that would then be included in an adjusted analysis. Multivariate logistic regression was used to estimate the independent association of these covariates and the type of school attended. Analyses were performed with Stata statistical software, Version 9.2.
Results: Fifteen percent of the sample reported attending specialized public schools (n=520). In the multivariate model, younger age and having a mother with a graduate degree were associated with decreased odds of attending specialized school. Children with Asperger's (OR=0.30, 95% C.I.:0.21-0.42) or PDD-NOS diagnoses (OR=0.50, 95% C.I.:0.37-0.66) were also significantly less likely to attend specialized schools as compared to children with autistic disorder. A loss of skills was associated with an increased odds of attending a specialized school (OR=1.30, 95% C.I.:1.05-1.60) as were epilepsy and motor delay diagnoses (OR=1.66, 95% C.I.:1.20-2.29 and OR=1.31, 95% C.I.:1.06-1.61, respectively). While significant at the univariate level, neither mental retardation nor any mental health diagnosis remained significantly associated with public school type in the adjusted model.
Conclusions: At the time of the study, fifteen percent of the sample was attending specialized public schools. Not unexpectedly, these children were significantly more impaired than their regular public school peers. Interestingly, a diagnosis of mental retardation or any mental health condition was not associated with school placement. Limitations of this study include our inability to assess the duration of attendance in specialized public schools and whether these children had previously been educated in the general school or classroom environment. Furthermore, there are likely variations in specialized school attendance by state and school district levels, which were not assessed in this study. Nonetheless, characterizing children with ASD who are educated in specialized schools has important implications for the public education system.
Creating the Digital Melting Pot: Lessons From a Web-Based National Autism Registry and Research Project
(Marvin, Law, K., & Law, P., 2009)
Presentation Date: May 2009
Background: Autism spectrum disorder (ASD) studies are often limited to those living near research centers (usually located in larger metropolitan areas) and who are available during the work day. Web-based research studies offer an opportunity to expand access to research initiatives. According to the Pew Internet & American Life Project Networked Families (2008) report, 94% of married-with-children and 87% of single-parent families have home internet access. The Public Libraries and the Internet 2008 report (ALA) notes that 98.9% of public library branches (including 100% "rural, high poverty") offer public Internet access. Also, internet access is frequently available in the workplace.
Objectives: To compare participation of families of children with ASD (age <18) enrolled in a web-based national autism registry (Interactive Autism Network; IAN) across gender, ethnicity, race, prior research participation, and the urban-rural continuum.
Methods: 8606 parents of children with ASD provided demographic, medical, and educational data on themselves and their 8767 affected children (82.3% male). Completion rates of parent surveys were compared by gender, ethnicity (Hispanic-to-non-Hispanic), race, and urbanicity. Affected child participation by ethnicity and race was compared to NSCH 2003 data. Parental participation by urbanicity was analyzed using the 2006 NCHS Urban-Rural Classification Scheme (NCHSUR).
Results: Mothers (88.4% of participating parents) were more likely to complete the parent questionnaire than fathers (86.4% to 83.0%, p=.004). 5.7% of parents and 7.7% of affected children (NSCH 2003 CI 95%= 6.1%,11.2%) were Hispanic. Hispanic parents were less likely to complete the parent questionnaire than non-Hispanic (82.8% to 86.2%, p=.03) and affected Hispanic children were less likely to have a completed affected child questionnaire (58.8% to 66.0%, p<.001); this is likely due to language issues. 9.6% of parents and 13.6% of affected children (NSCH 2003 CI 95%=13.6%,20.6%) were non-white and/or multiracial. Non-white/multiracial parents were less likely to complete the parent questionnaire than whites (80.0% to 86.7%, p<.001) and affected non-white/multiracial children were less likely to have a completed affected child questionnaire (56.4% to 66.9%, p<.001). The average participation rate (per million population count) across the six NCHSUR categories was 28.1. Smaller metro and micropolitan areas had participation rates comparable to that figure; however, the "large metro fridge" area had a much higher participation rate (47.5) and the "large central metro" and "non-core" (i.e., rural) areas had much lower participate rates (<20). There was no difference between the completion rates over NCHSUR categories except for "small metro", which had a higher completion rate (89.6% to 85.6%, p=.001). Of those affected children participating in IAN, only 13.7% had ever participated in a prior research study. There was no difference in prior research participation based on ethnicity, but fewer non-white/multiracial compared to white affected children had participated in a prior study (8.2% to 14.2%, p<.001) and fewer affected children living in small metro/micropolitan/rural area compared to large/medium metro areas (9.7% to 15.0%, p<.001).
Conclusions: The internet has brought research opportunities to many families with ASD, most for the first time; however, societal issues (notably the absence and lower active participation of fathers) must also be addressed.
Quantitative Autistic Trait Aggregation in Siblings of Autistic Probands in 1,246 IAN Families: Further Support for Differential Genetic Transmission of Simplex and Multiplex Autism
(Constantino, et al., 2009)
Presentation Date: May 2009
Background: Previous research has suggested that simplex and multiplex autism may involve divergent mechanisms of inheritance. In a previously published study involving 210 multiplex autism families and 80 simplex autism families, we observed differential patterns of familial aggregation of quantitative autistic traits (QAT) for males in simplex versus multiplex autism.
Objectives: To explore the aggregation of QAT in an independent sample of 1,101 self-identified simplex and 145 self-identified multiplex autism families, encompassing a total of 2,772 children in autism-affected families.
Methods: All data was acquired through the Interactive Autism Network (IAN), an internet-based volunteer register for U.S. families, for which eligibility includes: a) having at least one child diagnosed with an autism spectrum disorder (ASD) by a professional; and b) a full biological parent or legal guardian willing to participate. For this analysis we included families in which there existed: 1) a 4-18 year old ASD proband; 2) at least one full biological sibling in the same age range; and 3) QAT measurement for the proband and sibling(s) completed by parent-report using the Social Responsiveness Scale (SRS). 2,760 of these children were also rated by their parents using the Social Communication Questionnaire (SCQ).
Results: SRS and SCQ total scores were moderately correlated (ICC 0.62 for affected children), supporting substantial correspondence between quantitative severity and DSM-IV criterion endorsement. Principal components factor analysis of SRS data revealed a unitary factor structure, supporting use of singular (total) SRS scores in the data analyses. The QAT distribution for children in self-identified simplex autism families was distinctly bimodal, with a nadir in the distribution at an SRS T-score of 60, and a cluster representing unaffected siblings tightly grouped about a mean of 20.0. Of note is that 10 per cent of the children deemed unaffected by their families fell in the "pathological" cluster of the bimodal distribution. Although a bimodal distribution was also observed for females in multiplex families, the distribution for males in multiplex families was unimodal, i.e. without an appreciable cluster of unaffected children. The respective means for all boys whose SRS scores fell below a uniform quantitative severity threshold (60T) differed by 0.5 SD between simplex and multiplex families (t=-3.85; df=633; p<0.001). Affected children in both groups exhibited a wide, continuously-distributed range of severity.
Conclusions: We observed clear evidence of familial aggregation of continuously-distributed QAT in males in multiplex families, however most unaffected individuals in self-identified simplex families appeared to be devoid of aggregation of such traits -- in essence they appeared categorically unaffected. A remarkable feature of the distribution of QAT in this large sample of simplex ASD families was the location of the notch in the bimodal distribution of parents' reported scores (the threshold at which 90% of families differentiated affected from unaffected children), which fell only 1.5 SD above the general population mean. These results support a hypothesis of differential genetic transmission of ASD in simplex versus multiplex families, and also indicate that traditional methods for designation of affected status may result in substantial underestimation of sibling recurrence risk.
Trends in Autism Spectrum Disorder Diagnoses: 1994-2007
(Rosenberg, Daniels, Law, J. K., Law, P. A., & Kaufmann, 2009)
Presentation Date: May 2009
PubMed Abstract: 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.
Capturing Parents' Experience: Online Treatment Survey for Families of Children With Autism Spectrum Disorder (ASD)
(Law, P., et al., 2008)
Presentation Date: May 2008
Background: Families of children with ASD choose from a vast array of possible interventions - with various levels of empirical support - to treat core deficits, behaviors, and related symptoms of autism.
Objectives: To determine which treatments/interventions families of children with ASD are using.
Methods: Families of children with ASD registered to participate in a web-based U.S. national research registry and database. Parents reported on current treatments by selecting from a list of 348 interventions and adding any unlisted interventions.
Results: Treatment data was reported for 4470 affected children. 66% of children were receiving speech therapy, 53% occupational therapy, and 41% ABA or ABA-based therapies. 18% attended social skill groups, 17% used PECS, 15% used Visual Schedules, 15% received physical therapy, and 13% used Social Stories. 40% of children were reported to be using at least one medication. The most commonly used medications were Risperdal/risperidone and Ritalin (and equivalents), each used by 9% of children. 17% of children were reported to be on at least one special diet, the most common being casein-/dairy-free and/or gluten-free. 30% were taking at least one dietary supplement, the most popular of which were melatonin (9% of children), probiotics (9%), vitamin B12/methyl-cobalamin (7%), multivitamins (6%), magnesium (5%), zinc (5%), and calcium(5%). Parents specifically indicated that 23% of children were receiving some form of sensory integration dysfunction therapy; however, the majority of these children were also listed as receiving occupational therapy, reflecting a natural overlap. 8% of parents engaged in prayer/spiritual practices.
Conclusions: Although many families are using autism interventions with strong empirical support (e.g. ABA, Risperdal), many are also using interventions for which such support is weak or nonexistent. The need to evaluate treatments that are in wide use despite a lack of support for their efficacy may help guide research priority setting.
Changes in Diagnostic Category Among Affected Children in the Interactive Autism Network
(Daniels, & Law, P., 2008)
Presentation Date: May 2008
Background: In the context of a growing number of children diagnosed with autism spectrum disorders, there is a need to better understand characteristics associated with a first ASD diagnosis, how these characteristics may differ by diagnostic subtype and how they may influence a change in ASD diagnosis.
Objectives: To summarize diagnostic characteristics of IAN Research participants by ASD sub-type and to explore factors associated with a change in ASD diagnosis.
Methods: As 9/11/07, self-report data on diagnostic and developmental history were collected from 4,675 affected children through an online instrument entitled the Child with an ASD Questionnaire. Bivariate logistic regression techniques were applied to identify factors associated with a change in ASD diagnosis. Multiple logistic regression was used to examine the strength of association between these factors and a change in ASD diagnosis after controlling for potential confounders.
Results: Results of this study show that diagnostic characteristics vary by ASD diagnosis. In addition, approximately 25% (n=1,138) of all ASD children in IAN Research have a current diagnosis that differs from their first. These children are significantly less likely than their ASD peers to have a first ASD diagnosis of autism or Asperger's syndrome (OR 0.1, 95%CI 0.02-0.45 for autism, OR 0.09, 95% CI 0.02-0.43 for Asperger's syndrome). Furthermore, children whose ASD diagnosis changes are less likely to have been diagnosed by a clinical psychologist or a team of health professionals (OR 0.71, 95% CI 0.54-0.94, OR 0.59, 95% CI 0.44-0.80). These relationships remain statistically significant after controlling for current age, gender, race and other factors.
Conclusions: A change in ASD diagnosis among IAN participants is not uncommon. Findings from this study are of particular clinical and public health significance as they suggest that a change in ASD diagnosis depends upon both the symptomatology of the child and the context in which he/she is diagnosed.
Descriptive Analysis of 252 Twin Sets Recruited Through a National Online ASD Registry and Research Database
(Law, K., Marvin, Anderson, Cohen, & Law, P., 2008)
Presentation Date: May 2008
Background: Twin studies provide an opportunity for researchers to disentangle genetic and environmental factors related to Autism Spectrum Disorders (ASD). Multiple twin studies report much higher concordance rates for monozygotic (MZ) twins compared to dizygotic (DZ) twins, supporting a strong genetic component to the disorder. The small sample size in twin studies, however, limits further exploration of many research questions. Recruitment of twin sets continues to be a challenge for autism researchers.
Objectives: To present baseline characteristics, demographics and other preliminary analysis on 252 twin sets enrolled in the Interactive Autism Network (IAN) research registry and database.
Methods: IAN is an initiative intended to accelerate autism research through an online registry and research database. Questionnaires are used to collect data from families, including the child with ASD, unaffected siblings and biological/adoptive parents. More than 20,000 individuals are enrolled. The database is an open resource, providing de-identified data and recruitment assistance to autism researchers.
Results: In less than 9 months, 252 twin sets (55 MZ and 197 DZ) enrolled in the IAN research protocol. This is the largest collection of twins in published autism research. Basic demographics such as age, gender, race, and ethnicity will be presented. Similar to other published findings, concordance rates are 81% for MZ and 18% for DZ twins. Preliminary analysis shows that gender does not predict concordance in either MZ or DZ twins. Concordance rates were not affected by age of twins. Among all twin sets, only 6.8% reported prior genetics research participation.
Conclusions: This study demonstrates successful recruitment of an unprecedented number of twin sets in a short time using internet-mediated research. A large number of twin sets are required to explore the complex genetic and non-genetic factors contributing to ASD. Future use of this database by autism researchers will demonstrate the long-term value of the resource.
Developing the Subject Matching System for the Interactive Autism Network (IAN)
(Maulik, Marvin, & Law, P., 2008)
Presentation Date: May 2008
Background: Many autism research studies are delayed or fail because of difficulties with subject recruitment.
Objectives: To establish an efficient web-based matching system to facilitate efficient subject recruitment for Autism Spectrum Disorder (ASD) research projects.
Methods: A literature review of USA-based studies published in PubMed and PsycInfo between 2000 and 2005 was performed to identify inclusion/exclusion criteria and demographic characteristics that autism researchers use most. This information provided the core content for the Interactive Autism Network (IAN) database.
Results: The initial literature search generated 2,890 articles. Saturation point for generation of criteria for incorporation into the database was reached after detailed review of the initial 166 eligible articles. Study types were primarily clinical observation studies (59%) and genetic studies (14%). The most common characteristics/criteria sought by researchers were: specific ASD diagnosis, age, gender, medical history, IQ, scores on autism instruments, and medication history. 20,442 subjects have joined IAN, including 7,512 children with ASD (82.6% males), since its April 2007 launch. Data provided by families include those identified as key to subject recruitment selection. Only 15% of affected children have ever been part of an ASD research study before. Researchers wishing to recruit subjects through IAN specify their study eligibility criteria. IAN then identifies and contacts potential participants. The subject recruitment service became fully functional in August 2007. Fifty subject recruitment applications have been initiated, with half complete. Over 5,000 recruitment emails have been received by IAN participants. A broad range of studies from doctoral dissertations to multi-centre studies and drug trials are using IAN for subject recruitment. 55% of studies are non-commercially funded, 23% are commercially funded, and the remainder have no external funding.
Conclusions: A web based national registry can rapidly evolve and contribute to the efficiency of autism research.
High Birth Weight in Children With ASD and Their Unaffected Siblings
(Anderson, Marvin, Law, P., & Law, K., 2008)
Presentation Date: May 2008
Background: Increased head circumference and body size, as well as the presence of high levels of growth-related hormones, have been reported in autism spectrum disorders (ASD). Anthropomorphic differences may provide a clue to the underlying biology of autism.
Objectives: To compare birth weight of children with ASD, their unaffected siblings, and the general U.S. population.
Methods: Self-report data on birth weight of 4,600 children with ASD and 3,978 of their unaffected siblings was collected from families using a web-based interface. U.S. population vital statistics for 2005 were used for purposes of comparison. Birth weight was divided into five categories: Very Low (<1500 grams), Moderately Low (1500-2499 grams), Normal (2500-3999 grams), Moderately High (4000-4500 grams), and Very High (>4500 grams). Chi square analyses were performed.
Results: Compared with children of the same gender in the general U.S. population, boys and girls with ASD, as well as their male and female siblings, were more likely to have a Moderately High or Very High birth weight. 16.1% of boys with ASD and 17.6% of male siblings had a high birth weight, while only 10.5% of all male children (and 12.5% of white, non-Hispanic boys) did so. 10.9% of girls with ASD and 10.5% of female siblings likewise had a high birth weight, while only 6.3% of all female children (and 7.3% of white, non-Hispanic girls) did so. (For all comparisons, p<.001.)
Conclusions: Preliminary data suggest that both children with ASD and their siblings are more likely to have a Moderately High or Very High birth weight when compared with children of the same gender in the general U.S. population. These findings should be further explored using other data sources and controlling for additional potential confounders.
A Large Scale Study of 7,450 Parents of Children With Autism Spectrum Disorder
(Foster, Anderson, Law, K. & Law, P., 2008)
Presentation Date: May 2008
Background: A number of studies have focused on family members of children diagnosed with an Autism Spectrum Disorder (ASD). Family studies provide an opportunity for researchers to explore the genetic aspects of ASD, as well as the social/psychological impact of the disorder on family members. Parents serve an important role in ASD-research both as potential research participants and as a source of reliable information.
Objectives: To present preliminary analysis of data from 7,450 parents enrolled in a national online ASD registry and research database.
Methods: In less than 10 months, 7,450 parents consented to participate in the Interactive Autism Network (IAN) registry and research database. Through a series of online questionnaires, parents provided basic data on demographics, educational background, and medical history.
Results: Of the 7,450 parents enrolled in the study, the vast majority (87.3%) are mothers. Mothers also report a higher rate of previous participation in ASD-related research projects (20% versus 12% for fathers). This preliminary report focuses on parental history of language/learning problems and mental health disorders. Key findings include: 25% of fathers and 17% of mothers report a speech/language delay, a learning disability, or having received speech therapy/special education services. 46% of mothers and 22% of fathers report having been diagnosed with or treated for depression. In addition, 26% of mothers and 13% of fathers have been diagnosed with or treated for an anxiety disorder.
Conclusions: Mothers of children with ASD are significantly more likely to enroll in ASD-related research studies, or to report a history of depression or anxiety, when compared to fathers. In contrast, fathers are more likely to report a history of speech or learning issues. Additional research on parents of children diagnosed with ASD may provide further insight into biological and sociological factors related to autism.
Interactive Autism Network (IAN): A Model for Creating an Efficient and Responsive Online Research Infrastructure
(Law, P. A., Cohen, Law, J. K., & Tien, 2008)
Presentation Date: March 2008
Abstract: The IAN Project's goal is to accelerate autism research. Its online research environment provides a subject recruitment registry, a longitudinal research database, a community to foster exchange between families and researchers, and a community of practice to support researchers. Within the first 6 months, IAN consented 18,214 individuals, provided data and subject recruitment assistance to researchers, and educated the public about research and allowed them to help set the research agenda.
Building Capacity for Service Delivery Through State Autism Registries and the Interactive Autism Network (IAN)
(Farmer, Laffey, Law, K., & Law, P., 2007)
Presentation Date: May 2007
Background: As noted in the Autism Spectrum Disorders (ASD) Roadmap, families need comprehensive and coordinated services that are easily accessible. States often lack basic information to shape an effective service delivery system.
Objective: To develop a state-level model for the utilization of the national Interactive Autism Network (IAN) registry by state agencies, universities, researchers, support groups, and families.
Method: Developers of the IAN project at Kennedy Krieger Institute have worked with University of Missouri faculty, Missouri state officials and other stakeholders to establish a model for a state "dashboard" from the national registry data. This model will be piloted using IAN data provided by Missouri parents. Issues addressed in the process of creating the dashboard include ways to safeguard participants' privacy, technical issues of integrating state and national data and reusing datasets, tactics for increasing parents' awareness of IAN, and procedures for ease of use by researchers/analysts and for updating the dashboard over time.
Results: To date more than 200 children with ASD and their families are members of IAN, including many from Missouri. Now that the pilot phase of IAN is complete, national recruitment efforts are increasing. The state model derived from IAN data will be described, including standard reports that can be generated for states; methods for collecting additional state specific data; and our experience with linking IAN and existing state databases. Conclusion: State autism registries derived from IAN offer a cost efficient method to obtain information that can guide public policy and contribute to improvements in the service delivery system.
Internet Mediated Research (IMR) in Autism: Initial Experiences of the Interactive Autism Network (IAN) Research Project
(Law, P. A., et al., 2007)
Presentation Date: May 2007
Background: Internet use by US adults has increased from 20% to nearly 80% in the past 10 years. Many people seek and provide health information online. This trend is changing the field of medicine. IMR is a novel use of web technology to collect scientific data. Autism Spectrum Disorders (ASDs) are well suited for online data collection. Parents already provide a large amount of research information via standardized paper instruments. However, parents are limited in their ability to participate in university-based research by geographic/logistical constraints. IAN Research, an online registry and research database, will remove these obstacles to participation.
Methods: Parents and marketing professionals worked with a software development team to build IAN using both Clinical Data Interchange Standards Consortium and National Cancer Institute Common Data Element models and standards. The underlying technology platform, the Health Science Process Framework, is designed to support flexible evolution and interoperability to accelerate health research. IAN was designed so that researchers rather than software engineers can author forms, validation rules, and reports.
Results: During the pilot phase, IAN recruited over 200 children with ASD, and over 500 subjects total (a figure which includes all participating family members) with minimal effort. Over 25,000 individual data points have been collected. Data quality verification efforts are ongoing. Initial results show a 4:1 male/female ratio of subjects, which concurs with other studies. The Social Communication Questionnaire average score in affected children was 22 compared to 4 in non-ASD siblings. Only 19% of children participating in IAN had previously participated in research.
Conclusion: IMR is an efficient and well-received method for data collection with potential to increase participation and advance autism research. Further evaluation of this research method is merited.
- Anderson, C., Cohen, C. A., Law, J. K., & Law, P. A. (2011, May). Grandparents of children with ASD. Poster session presented at the annual meeting of the International Meeting for Autism Research, San Diego. Retrieved May 23, 2011.
- Anderson, C., Marvin, A. R., Law, P., & Law, K. (2008, May). High birth weight in children with ASD and their unaffected siblings. Poster session presented at the annual meeting of the International Meeting for Autism Research, London. Retrieved May 23, 2011.
- Bent, S., Hendren, R.L., Zandi, T., Law, J.K., Widjaja, F., Choi, J.E., Nestle, J., & Law, P.A. (2013, May). An Internet-Based Randomized Controlled Trial of Omega-3 Fatty Acids for Hyperactivity in Children with ASD. Oral session presented at the annual meeting of the International Meeting for Autism Research, San Sebastian, Spain. Retrieved May 16, 2013.
- Cheak-Zamora, N. C., Farmer, J. E., Mayfield, W. A., Law, J. K., & Marvin, A. R. (2011, May). Provision of transition services for children with autism spectrum disorders. Poster session presented at the annual meeting of the International Meeting for Autism Research, San Diego. Retrieved May 23, 2011.
- Constantino, J. N., Law, P., Abbacchi, A., Zhang, Y., Lindsay, H., & Gruber, C. (2009, May). Quantitative autistic trait aggregation in siblings of autistic probands in 1,246 IAN families: Further support for differential genetic transmission of simplex and multiplex autism. Poster session presented at the annual meeting of the International Meeting for Autism Research, Chicago. Retrieved May 23, 2011.
- Constantino, J. N., & Law, P. A. (2011, May). Inherited ASD susceptibility in never-diagnosed females: Implications for intergenerational transmission, gender ratio, and the diagnosis of autism. Oral session presented at the annual meeting of the International Meeting for Autism Research, San Diego. Retrieved May 23, 2011.
- Constantino, J. N., Zhang, Y., & Law, P. A. (2010, May). Redefining sibling "recurrence": Language delays affect 21% of otherwise-unaffected siblings of ASD probands. Poster session presented at the annual meeting of the International Meeting for Autism Research, Philadelphia. Retrieved May 23, 2011.
- Daniels, A. M., Anderson, C., Law, K., & Law, P. (2009, May). Correlates of specialized public school attendance among children with autism spectrum disorders. Poster session presented at the annual meeting of the International Meeting for Autism Research, Chicago. Retrieved May 23, 2011.
- Daniels, A. M., & Law, P. (2008, May). Changes in diagnostic category among affected children in the Interactive Autism Network. Poster session presented at the annual meeting of the International Meeting for Autism Research, London. Retrieved May 23, 2011.
- Farmer, J. E.,Clark, M. J., Mayfield, W. A., Marvin, A. R., Law, J. K (2011, May). Unmet Healthcare Needs of Children with ASD and Their Families. Poster session presented at the annual meeting of the International Meeting for Autism Research, Seattle. Retrieved February 21, 2012.
- Farmer, J. E., Laffey, J., Law, K., & Law, P. (2007, May). Building capacity for service delivery through state autism registries and the Interactive Autism Network (IAN) (p. 148). Poster session presented at the annual meeting of the International Meeting for Autism Research, Seattle. Retrieved May 23, 2011.
- Foster, C., Anderson, C., Law, K., & Law, P. (2008, May). A large scale study of 7,450 parents of children with autism spectrum disorder. Poster session presented at the annual meeting of the International Meeting for Autism Research, London. Retrieved May 23, 2011.
- Frazier, T. W., Embacher, R., Law, P. A., & Constantino, J. N. (2010, May). Autism spectrum disorders: A dimension or sub-categories?. Poster session presented at the annual meeting of the International Meeting for Autism Research, Philadelphia. Retrieved May 23, 2011.
- Frazier, T. W., Gruber, C., Law, P. A., & Constantino, J. N. (2013, May). Resolution of the Factoral Structure of Quantitative Autistic Symptomatology in 11, 000 Assessments of School-Aged Children and Adults. Oral session presented at the annual meeting of the International Meeting for Autism Research, San Sebastian, Spain. Retrieved May 16, 2013.
- Frazier, T. W., Youngstrom, E. A., Speer, L., Embacher, R., Law, P. A., Constantino, J. N., et al. (2011, May). Validation of proposed DSM-5 criteria for autism spectrum disorder. Poster session presented at the annual meeting of the International Meeting for Autism Research, San Diego. Retrieved May 23, 2011.
- Halladay, A., Chukoskie, L., Rosanoff, M., Shih, A., & Cohen, C. (2010, April). Using research to promote science communication: Partnerships at Autism Speaks. Poster presented at the National Institute of Environmental Health Sciences: Partnerships in Environmental Public Health, Durham, NC.
- Hillman, J. Anderson, C., Marvin, A., Levin, S., Law, J. K., Law, P. (2014, May). The Experience, Accommodations, and Resilience of Grandparents of Grandchildren with Autism Spectrum Disorders. Poster session presented at the annual meeting of the International Meeting for Autism Research, Atlanta, Georgia. Retrieved June 26, 2014.
- Johnson, D., Singer, A., Anderson, C., Law, J.K., Law, P.A., Marvin, A.R. (2013, May). Service Needs of Adults with Autism. Poster session presented at the annual meeting of the International Meeting for Autism Research, San Sebastian, Spain. Retrieved May 16, 2013
- Law, K., Marvin, A. R., Anderson, C., Cohen, C., & Law, P. (2008, May). Descriptive analysis of 252 twin sets recruited through a national online ASD registry and research database. Poster session presented at the annual meeting of the International Meeting for Autism Research, London. Retrieved May 23, 2011.
- Law, P., & Cohen, C. (2010, November). Putting shared information resources to work: How to help the autism community, researchers, and practitioners through the IAN Project. Presented at the Association of University Centers on Disabilities (AUCD) Annual Conference, Crystal City, VA. Retrieved May 27, 2011.
- Law, P., Cohen, C. A., & Law, J. K. (2010, May). Interactive Autism Network (IAN): Towards an efficient and responsive online research infrastructure. Poster session presented at the annual meeting of the International Meeting for Autism Research, Philadelphia. Retrieved May 23, 2011.
- Law, P., Law, J. K., Rosenberg, R. E., Anderson, C., & Samango-Sprouse, C. (2010, May). Immunization beliefs and practices among autism families. Poster session presented at the annual meeting of the International Meeting for Autism Research, Philadelphia. Retrieved May 23, 2011.
- Law, P., Marvin, A. R., Nestle, J., Anderson, C., Cohen, C., Foster, C., et al. (2008, May). Capturing parents' experience: Online treatment survey for families of children with autism spectrum disorder (ASD). Poster session presented at the annual meeting of the International Meeting for Autism Research, London. Retrieved May 23, 2011.
- Law, P. A., Cohen, C., Law, J. K., & Tien, A. Y. (2008, March). Interactive Autism Network (IAN): A model for creating an efficient and responsive online research infrastructure. Poster presented at the annual American Medical Informatics Association Summit on Translational Bioinformatics, San Francisco, CA.
- Law, P. A., & Kalb, L. (2011, May). Determinants of survey completion in online autism research. Poster session presented at the annual meeting of the International Meeting for Autism Research, San Diego. Retrieved May 23, 2011.
- Law, P. A., Law, J. K., Cohen, C. A., Marvin, A. R., Anderson, C. M., Oberleitner, R., & Tien, A. Y. (2007, May). Internet mediated research (IMR) in autism: Initial experiences of the Interactive Autism Network (IAN) research project (p. 154). Poster session presented at the annual meeting of the International Meeting for Autism Research, Seattle. Retrieved May 23, 2011.
- Lee, H., Marvin, A. R., Watson, T., Piggot, J., Marvin, S. S., Yahudah, E., et al. (2010, May). Validating the accuracy of a rapid phenotyping paradigm using web-based parent input. Poster session presented at the annual meeting of the International Meeting for Autism Research, Philadelphia. Retrieved May 23, 2011.
- Marvin, A., Law, P., Law, J. K., Arthur, E., Mortenson, E., Abbacchi, A., Watson, T., Westreich., A., Gray, T., Zhang, Y., Marvin, D., Levin., S., Constantino, J. (2014, May). Non-Verbal Children with ASD (NV-ASD): Validating a Registry and Characterizing a Population. Poster session presented at the annual meeting of the International Meeting for Autism Research, Atlanta, Georgia. Retrieved June 26, 2014.
- Marvin, A. R., Law, K., & Law, P. (2009, May). Creating the digital melting pot: Lessons from a web-based national autism registry and research project. Poster session presented at the annual meeting of the International Meeting for Autism Research, Chicago. Retrieved May 23, 2011.
- Marvin, A. R., Lee, H., Nestle, J., Constantino, J. N., Anderson, C., Zandi, T., et al. (2011, May). IAN Genetics: An automated web-based system for rapid phenotyping, enrollment, and genetic sample collection. Poster session presented at the annual meeting of the International Meeting for Autism Research, San Diego. Retrieved May 23, 2011.
- Maulik, P. K., Marvin, A. R., & Law, P. (2008, May). Developing the subject matching system for the Interactive Autism Network (IAN). Poster session presented at the annual meeting of the International Meeting for Autism Research, London. Retrieved May 23, 2011.
- Rosenberg, R. E., Daniels, A. M., Law, J. K., Law, P. A., & Kaufmann, W. E. (2009, May). Trends in autism spectrum disorder diagnoses: 1994-2007. Poster session presented at the annual meeting of the Pediatric Academic Societies Conference, Baltimore. Abstract retrieved May 23, 2011.
- Vasa, R. A., Anderson, C., Thorn, J. M., Marvin, A. R., Sarphare, G., Law, K., & Law, P. (2010, May). Associations between maternal affective disorders and specific characteristics in children with autism spectrum disorder. Poster session presented at the annual meeting of the International Meeting for Autism Research, Philadelphia. Retrieved May 23, 2011.
- Zablotsky, B., Kalb, L., & Law, P. A. (2011, May). The association between maternal depression and comorbid psychopathology in children with autism spectrum disorders. Poster session presented at the annual meeting of the International Meeting for Autism Research, San Diego. Retrieved May 23, 2011.
- Zandi, T., Johnson, S. B., Law, J. K., Green Snyder, L., White, L. C., Voccola, D., et al. (2011, May). SSC@IAN - A model for long-term follow-up. Poster session presented at the annual meeting of the International Meeting for Autism Research, San Diego. Retrieved May 23, 2011.