Autism spectrum disorders (ASD) are complex, heterogeneous disorders caused by an interaction between genetic vulnerability and environmental factors. In an effort to better target the underlying roots of ASD for diagnosis and treatment, efforts to identify reliable biomarkers in genetics, neuroimaging, gene expression and measures of the body’s metabolism are growing. For this article, we review the published studies of potential biomarkers in autism and conclude that while there is increasing promise of finding biomarkers that can help us target treatment, there are none with enough evidence to support routine clinical use unless medical illness is suspected. Promising biomarkers include those for mitochondrial function, oxidative stress, and immune function. Genetic clusters are also suggesting the potential for useful biomarkers.

Reading disorder (RD), a specific learning disorder (SLD) of reading that includes impairment in word reading, reading fluency, and/or reading comprehension, is common in the general population but often is not comprehensively understood or assessed in mental health settings. In education settings, comorbid mental and associated disorders may be inadequately integrated into intervention plans. Assessment and intervention for RD may be delayed or absent in children with frequently co-occurring mental disorders not fully responding to treatment in both school and mental health settings. To address this oversight, this review summarizes current knowledge regarding RDs and common comorbid or co-occurring disorders that are important for mental health and school settings. We chose to highlight RD because it is the most common SLD, and connections to other often comorbid disorders have been more thoroughly described in the literature. Much of the literature we describe is on decoding-based RD (or developmental dyslexia) as it is the most common form of RD. In addition to risk for academic struggle and social, emotional, and behavioral problems, those with RD often show early evidence of combined or intertwined Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition childhood disorders. These include attention deficit hyperactivity disorder, anxiety and depression, disruptive, impulse-control, and conduct disorders, autism spectrum disorders, and other SLDs. The present review highlights issues and areas of controversy within these comorbidities, as well as directions for future research. An interdisciplinary, integrated approach between mental health professionals and educators can lead to comprehensive and targeted treatments encompassing both academic and mental health interventions. Such targeted treatments may contribute to improved educational and health-related outcomes in vulnerable youth. While there is a growing research literature on this association, more studies are needed of when to intervene and of the early and long-term benefits of comprehensive intervention.

Given the severe and chronic problems associated with Autism Spectrum Disorders (ASD) and the limitations of available treatments, there exists a large public health need for additional interventions. As more parents are inquiring about complementary and alternative treatments (CATs), both parents and practitioners require up-to-date information about them and whether and how to integrate them into treatment. After presenting data on CAT usage patterns for ASD, we review 13 ingestible (i.e., orally administered) and 6 noningestible (i.e., externally administered) CATs for ASD. For each CAT we briefly describe its definition; rationale for use; current research support, limitations, and future directions; safety issues; and whether we currently recommend, not recommend, or find it acceptable for the treatment of ASD. We conclude this paper with recommendations for future research and ten clinical recommendations for practitioners.

Current understanding of the etiology of autism is based on the interaction of multiple genes with each other and with environmental factors, leading to a neurodevelopmental process that results in the expression of autism spectrum disorder (ASD) in the child. This suggests that it might be possible to strengthen resilience to environmental stressors during the perinatal period to improve outcomes and possibly prevent the development of ASD. We searched the MEDLINE database for multiple perinatal factors associated with the development of ASD published between January 1, 2005 and July 1, 2018. The search terms used were "autism" crossed with either "perinatal," "prenatal," "gestational," or "pregnancy," and crossed again with each perinatal risk factor highlighted in this review including topics on parental health, infections, medications, and environmental stressors. We then searched interventions that may improve neurodevelopmental outcome before and during pregnancy, including supplements, breastfeeding, and postpartum stress reduction. We identified recent or unique metanalyses and systematic reviews of the identified focus and on randomized controlled trials and summarized these using the most recent and comprehensive reviews. Folate, omega-3, vitamin D3, environmental toxin avoidance, correcting deficiencies, immune boosting, and prolonged breast feeding are all reported to be linked to the possible reduction of adverse pregnancy outcomes including ASD. Studies of individual components for improving pregnancy outcomes and several uncontrolled preconception to infancy medical practices suggest that multiple interventions might improve the outcomes of pregnancies where there is risk for developing ASD.

Background: Reduction or differences in facial expression are a core diagnostic feature of autism spectrum disorder (ASD), yet evidence regarding the extent of this discrepancy is limited and inconsistent. Use of automated facial expression detection technology enables accurate and efficient tracking of facial expressions that has potential to identify individual response differences.Methods: Children and adults with ASD (N= 124) and typically developing (TD,N= 41) were shown short clips of “funny videos.” Using automated facial analysis software, we investigated differences between ASD and TD groups and within the ASD group in evidence of facial action unit (AU) activation related to the expression of positive facial expression, in particular, a smile.Results: Individuals with ASD on average showed less evidence of facial AUs (AU12, AU6) relating to positive facial expression, compared to the TD group (p< .05,r= − 0.17). Using Gaussian mixture model for clustering, we identified two distinct distributions within the ASD group, which were then compared to the TD group. One subgroup (n= 35), termed “over-responsive,” expressed more intense positive facial expressions in response to the videos than the TD group (p< .001,r= 0.31). The second subgroup (n= 89), (“under-responsive”), displayed fewer, less intense positive facial expressions in response to videos than the TD group (p< .001;r= − 0.36). The over-responsive subgroup differed from the under-responsive subgroup in age and caregiver-reported impulsivity (p< .05,r= 0.21). Reduced expression in the under-responsive, but not the over-responsive group, was related to caregiver-reported social withdrawal (p< .01,r= − 0.3).Limitations: This exploratory study does not account for multiple comparisons, and future work will have to ascertain the strength and reproducibility of all results. Reduced displays of positive facial expressions do not mean individuals with ASD do not experience positive emotions.Conclusions: Individuals with ASD differed from the TD group in their facial expressions of positive emotion in response to “funny videos.” Identification of subgroups based on response may help in parsing heterogeneity in ASD and enable targeting of treatment based on subtypes.Trial registration: ClinicalTrials.gov,NCT02299700. Registration date: November 24, 2014

Background: Currently, no medications are approved to treat core symptoms of autism spectrum disorder (ASD). One barrier to ASD medication development is the lack of validated outcome measures able to detect symptom change. Current ASD interventions are often evaluated using retrospective caregiver reports that describe general clinical presentation but often require recall of specific behaviors weeks after they occur, potentially reducing accuracy of the ratings. My JAKE, a mobile and Web-based mobile health (mHealth) app that is part of the Janssen Autism Knowledge Engine—a dynamically updated clinical research system—was designed to help caregivers of individuals with ASD to continuously log symptoms, record treatments, and track progress, to mitigate difficulties associated with retrospective reporting. Objective: My JAKE was deployed in an exploratory, noninterventional clinical trial to evaluate its utility and acceptability to monitor clinical outcomes in ASD. Hypotheses regarding relationships among daily tracking of symptoms, behavior, and retrospective caregiver reports were tested. Methods: Caregivers of individuals with ASD aged 6 years to adults (N=144) used the My JAKE app to make daily reports on their child’s sleep quality, affect, and other self-selected specific behaviors across the 8- to 10-week observational study. The results were compared with commonly used paper-and-pencil scales acquired over a concurrent period at regular 4-week intervals. Results: Caregiver reporting of behaviors in real time was successfully captured by My JAKE. On average, caregivers made reports 2-3 days per week across the study period. Caregivers were positive about their use of the system, with over 50% indicating that they would like to use My JAKE to track behavior outside of a clinical trial. More positive average daily reporting of overall type of day was correlated with 4 weekly reports of lower caregiver burden made at 4-week intervals (r=–0.27, P=.006, n=88) and with ASD symptoms (r=–0.42, P<.001, n=112). Conclusions: My JAKE reporting aligned with retrospective Web-based or paper-and-pencil scales. Use of mHealth apps, such as My JAKE, has the potential to increase the validity and accuracy of caregiver-reported outcomes and could be a useful way of identifying early changes in response to intervention. Such systems may also assist caregivers in tracking symptoms and behavior outside of a clinical trial, help with personalized goal setting, and monitoring of progress, which could collectively improve understanding of and quality of life for individuals with ASD and their families. Trial Registration: ClinicalTrials.gov NCT02668991; https://clinicaltrials.gov/ct2/show/NCT02668991