Mechanisms Underlying Microbial-Mediated Changes in Social Behavior in Mouse Models of Autism Spectrum Disorder

Mechanisms Underlying Microbial-Mediated Changes in Social Behavior in Mouse Models of Autism Spectrum Disorder

The gut microbiome is increasingly implicated in the regulation of social behavior across model organisms. In this issue of Neuron, Sgritta et al. (2018) examine the role of the gut microbiome in social reward circuits and sociability in three mouse models of autism spectrum disorder.

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The contribution of environmental exposure to the etiology of autism spectrum disorder

 The contribution of environmental exposure to the etiology of autism spectrum disorder

Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental condition of heterogeneous etiology. While it is widely recognized that genetic and environmental factors and their interactions contribute to autism phenotypes, their precise causal mechanisms remain poorly understood. This article reviews our current understanding of environmental risk factors of ASD and their presumed adverse physiological mechanisms. It comprehensively maps the significance of parental age, teratogenic compounds,
perinatal risks, medication, smoking and alcohol use, nutrition, vaccination, toxic exposures, as well as the role of extreme psychosocial factors. Further, we consider the role of potential protective factors such as folate and fatty acid intake. Evidence indicates an increased offspring vulnerability to ASD through advanced maternal and paternal age, valproate intake, toxic chemical exposure, maternal diabetes, enhanced steroidogenic activity, immune activation, and possibly altered zinc–copper cycles and treatment with selective serotonin reuptake inhibitors. Epidemiological studies demonstrate no evidence for vaccination posing an autism risk. It is concluded that future research needs to consider categorical autism, broader autism phenotypes, as well as autistic traits, and examine more homogenous autism variants by subgroup stratification. Our understanding of autism etiology could be advanced by research aimed at disentangling the causal and non-causal environmental effects, both founding and moderating, and gene–environment interplay using twin studies, longitudinal and experimental
designs. The specificity of many environmental risks for ASD remains unknown and control of multiple confounders has been limited. Further understanding of the critical windows of neurodevelopmental vulnerability and investigating the fit of multiple hit and cumulative risk models are likely promising approaches in enhancing the understanding of role of environmental factors in the etiology of ASD.

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Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

 Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

INTRODUCTION: The DNA of protein-coding
genes is transcribed into mRNA, which is translated into proteins. The “coding genome” describes the DNA that contains the information to make these proteins and represents ~1.5% of the human genome. Newly arising de novo mutations (variants observed in a child but not in either parent) in the coding genome contribute to numerous childhood developmental disorders, including autism spectrum disorder
(ASD). Discovery of these effects is aided by the triplet code that enables the functional impact of many mutationsto be readily deciphered. In contrast, the “noncoding genome” covers the remaining ~98.5% and includes elements that regulate when, where, and to what degree protein-coding genes are transcribed. Understanding this noncoding sequence could provide insights into human disorders and refined control of emerging genetic therapies. Yet little is known about the role of mutations in noncoding regions, including whether they contribute to childhood developmental disorders, which noncoding elements are most vulnerable to disruption, and the manner in which information is encoded in the noncoding genome

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The Prevalence of ParentReported Autism Spectrum Disorder Among US Children

The Prevalence of ParentReported Autism Spectrum Disorder Among US Children

OBJECTIVES: To estimate the national prevalence of parent-reported autism spectrum disorder
(ASD) diagnosis among US children aged 3 to 17 years as well as their treatment and health
care experiences using the 2016 National Survey of Children’s Health (NSCH).

METHODS: The 2016 NSCH is a nationally representative survey of 50 212 children focused
on the health and well-being of children aged 0 to 17 years. The NSCH collected parentreported information on whether children ever received an ASD diagnosis by a care
provider, current ASD status, health care use, access and challenges, and methods of
treatment. We calculated weighted prevalence estimates of ASD, compared health care
experiences of children with ASD to other children, and examined factors associated with
increased likelihood of medication and behavioral treatment.

RESULTS: Parents of an estimated 1.5 million US children aged 3 to 17 years (2.50%) reported
that their child had ever received an ASD diagnosis and currently had the condition.
Children with parent-reported ASD diagnosis were more likely to have greater health
care needs and difficulties accessing health care than children with other emotional or
behavioral disorders (attention-deficit/hyperactivity disorder, anxiety, behavioral or
conduct problems, depression, developmental delay, Down syndrome, intellectual disability,
learning disability, Tourette syndrome) and children without these conditions. Of children
with current ASD, 27% were taking medication for ASD-related symptoms, whereas 64%
received behavioral treatments in the last 12 months, with variations by sociodemographic
characteristics and co-occurring conditions.

CONCLUSIONS: The estimated prevalence of US children with a parent-reported ASD
diagnosis is now 1 in 40, with rates of ASD-specific treatment usage varying by children’s
sociodemographic and co-occurring conditions.

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Delayed autism spectrum disorder recognition in children and adolescents previously diagnosed with attention-deficit/ hyperactivity disorder

 Delayed autism spectrum disorder recognition in children and adolescents previously diagnosed with attention-deficit/ hyperactivity disorder

Abstract
Phenotypic elements of autism spectrum disorder can be masked by attention-deficit/hyperactivity disorder symptoms, potentially leading to a misdiagnosis or delaying an autism spectrum disorder diagnosis. This study explored differences in the age of autism spectrum disorder diagnosis between participants with previously diagnosed attention-deficit/ hyperactivity disorder versus autism spectrum disorder–only respondents. Children and adolescents, but not adults, initially diagnosed with attention deficit/hyperactivity disorder received an autism spectrum disorder diagnosis an average
of 1.8years later than autism spectrum disorder–only children, although the findings regarding the adult sample should be interpreted with caution. Gender differences were also explored, revealing that the delay in receiving an autism diagnosis was 1.5 years in boys and 2.6 years in girls with pre-existing attention-deficit/hyperactivity disorder, compared with boys and girls without prior attention-deficit/hyperactivity disorder. No significant gender differences were observed in the
adult sample. We argue that overlapping symptoms between autism spectrum disorder and attention-deficit/hyperactivity disorder might delay a formal diagnosis of autism either by leading to a misdiagnosis of attention-deficit/hyperactivity disorder or by making it difficult to identify the presence of co-occurring autism spectrum disorder conditions once an initial diagnosis of attention-deficit/hyperactivity disorder has been obtained. Current findings highlight the need to recruit
multidimensional and multidisciplinary screening procedures to assess for potential emerging autism spectrum disorder hallmarks in children and adolescents diagnosed or presenting with attention-deficit/hyperactivity disorder symptoms

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Barriers faced by immigrant families of children with autism: A program to address the challenges

 

Barriers faced by immigrant families of children with autism: A program to address the challenges

A B S T R A C T
Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized by social, communication, and behavioral deficits. Fortunately, early intervention has proved to be of significant benefit in the lives of children with ASD. However, timely access to health services and support requires equitable access, which is often a challenge for immigrant families. Barriers to equal access and support for immigrant families of children with ASD include cultural beliefs about child development and ASD, delayed diagnosis, access to services, and negative perceptions of services. There is a shortage of studies that explore how to increase understanding and collaboration among the immigrant population and health care practitioners to address these barriers. The barriers can indeed be appropriately addressed with structured programs and cultural models. The objectives of this article are to shed light on how barriers impact outcomes of immigrant children with ASD and
to describe a culturally sensitive program model to address the barriers and provide awareness, education, and interventions for these immigrant families. The South Asian Autism Awareness Center in Toronto, Canada is presented as an example of such a model.

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Good social skills despite poor theory of mind: exploring compensation in autism spectrum disorder

 Good social skills despite poor theory of mind: exploring compensation in autism spectrum disorder

Background: It is proposed that some individuals with Autism Spectrum Disorder (ASD) can ‘compensate’ for their underlying difficulties (e.g. in theory of mind; ToM), thus demonstrating relatively few behavioural symptoms, despite continued core cognitive deficits. The mechanisms underpinning compensation are largely unexplored, as is its potential impact on mental health. This study aimed to estimate compensation patterns in ASD, by contrasting overt social behaviour with ToM task performance, in order to compare the characteristics of ‘Low’ and ‘High’ Compensators.
Methods: A total of 136 autistic adolescents, from the ongoing Social Relationships Study, completed a range of cognitive tasks, the Autistic Diagnostic Observation Schedule (ADOS) and a self-report anxiety questionnaire. Participants were assigned compensation group status; High Compensators demonstrated good ADOS scores despite poor ToM performance, while Low Compensators demonstrated similarly poor ToM, accompanied by poor ADOS scores.
Results: High Compensators demonstrated better IQ and executive function (EF), but greater self-reported anxiety, compared with Low Compensators. Such differences were not found when comparing individuals who had good versus poor ADOS scores, when ToM performance was good. Other core autistic characteristics (weak central coherence, nonsocial symptoms) did not differentiate the High and Low Compensators. Conclusions: IQ, EF and anxiety appear to be implicated in the processes by which certain autistic young people can compensate for their underlying ToM difficulties. This tendency to compensate does not appear to reflect the severity of ‘hit’ for ASD per se, suggesting that well-compensated individuals are not experiencing a milder form of ASD. The construct of compensation in ASD has implications for research and clinical practice.

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The hidden faces of autism and misdiagnosis in the lifespan: Clinical observations in adults with Autism Spectrum Disorders

The hidden faces of autism and misdiagnosis in the

lifespan: Clinical observations in adults with

Autism Spectrum Disorders

Abstract

Autism  Spectrum  Disorder  (ASD)  includes  early-onset  developmental

disorders  characterized  by   symptoms  ranging  from  impaired   social

communication   skills,   stereotyped   behaviors,   impairment   in   social

interactions,   to   poor   language   development.   Although   the   autistic

condition  is  stable  across  the  life  span,  a  substantial  number  of  adult

ASD  patients  may  be  undiagnosed  or  misdiagnosed  as  having  other

mental  disorders.  Twenty-three  ASD  adult  patients  underwent  clinical

examination   and   were   assessed   by   the   following   psychodiagnostic

instruments: the RAADS-R, the Y-BOCS, and the Rorschach inkblot test.

The  mean RAADS total  score  was higher than cut-off  threshold (126 ±

43;  cutoff  =  65).  Y-BOCS  total  scores  were  moderately  high  (21  ±  9;

cutoff   =   7).   Rorschach   protocols   were   characterized   by   a   mean

productivity (number of responses: 23 ± 12), a concrete intelligence with

traits  of  meticulousness  (D  =  39%,  Dd  =  8%),  inaccurate  formal

perception  with  falls  of  representation  (F-  >  F+),  poor  attention  to

human   contents,   and   perseveration   and   devitalization   as  particular

phenomena.    Adult    ASD    patients    are    characterized    by    peculiar

psychopathological features that can be effectively investigated with the

use   of   both   psychometric   and   projective   methods.   An   accurate

investigation  of  behavioral  and  clinical  features  and  personality  traits,

should  integrate  the  diagnostic  pathway  of  those  adult  subjects  often

presenting    with    comorbid    psychiatric    disorders    and    symptoms

heterogeneity.

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Improving social skills in children with ASD using a long-term, in-home social robot

Improving social skills in children with ASD using a long-term, in-home social robot

Social robots can offer tremendous possibilities for autism spectrum disorder (ASD) interventions. To date, most studies with this population have used short, isolated encounters in controlled laboratory settings. Our study focused on a 1-month, home-based intervention for increasing social communication skills of 12 children with ASD between 6 and 12 years old using an autonomous social robot. The children engaged in a triadic interaction with a caregiver and the robot for 30 min every day to complete activities on emotional storytelling, perspective-taking, and sequencing. The robot encouraged engagement, adapted the difficulty of the activities to the child’s past performance, and modeled positive social skills. The system maintained engagement over the 1-month deployment,
and children showed improvement on joint attention skills with adults when not in the presence of the robot. These results were also consistent with caregiver questionnaires. Caregivers reported less prompting over time and overall increased communication.

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Exploratory study examining the at-home feasibility of a wearable tool for social-affective learning in children with autism

Exploratory study examining the at-home feasibility of a wearable tool for social-affective learning in children with autism

Although standard behavioral interventions for autism spectrum disorder (ASD) are effective therapies for social deficits, they face criticism for being time-intensive and overdependent on specialists. Earlier starting age of therapy is a strong predictor of later success, but waitlists for therapies can be 18 months long. To address these complications, we developed Superpower Glass, a machine-learning-assisted software system that runs on Google Glass and an Android smartphone, designed for use during social interactions. This pilot exploratory study examines our prototype tool’s potential for social-affective learning for children with autism. We sent our tool home with 14 families and assessed changes from intake to conclusion through the Social Responsiveness Scale (SRS-2), a facial affect recognition task (EGG), and qualitative parent reports. A repeated-measures one-way ANOVA demonstrated a decrease in SRS-2 total scores by an average 7.14 points (F(1,13) = 33.20, p = <.001, higher scores indicate higher ASD severity). EGG scores also increased by an average 9.55 correct responses (F(1,10) = 11.89, p = <.01). Parents reported increased eye contact and greater social acuity. This feasibility study supports using mobile technologies for potential therapeutic purposes.

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Alexithymia and Autism Spectrum Disorder: A Complex Relationship

Alexithymia and Autism Spectrum

Disorder: A Complex Relationship

Alexithymia is a personality construct characterized by altered emotional awareness
which has been gaining diagnostic prevalence in a range of neuropsychiatric disorders,
with notably high rates of overlap with autism spectrum disorder (ASD). However, the
nature of its role in ASD symptomatology remains elusive. Here, we distill research at
the intersection of alexithymia and ASD. After a brief synopsis of the studies that played
a pioneering role in the identification of the overlapping fields between alexithymia and
ASD, we comb the literature for evidence of its overlap with ASD in terms of prevalence,
etiology, and behaviors. Through a formalized framework of the process of emotional
interpretation and expression, we explore evidence for where and how deficits arise in
this complex network of events. We portray how these relate to the dynamic interplay
between alexithymic and autistic traits and find emerging evidence that alexithymia is
both a cause and consequence of autistic behaviors. We end with a strategic proposal
for future research and interventions to dampen the impacts of alexithymia in ASD. 

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Improvement of Attention-Deficit/Hyperactivity Disorder Symptoms in School-Aged Children, Adolescents, and Young Adults With Autism via a Digital Smartglasses-Based Socioemotional Coaching Aid: Short-Term, Uncontrolled Pilot Study

Improvement of Attention-Deficit/Hyperactivity Disorder Symptoms in School-Aged Children, Adolescents, and Young Adults With Autism via a Digital Smartglasses-Based Socioemotional Coaching Aid: Short-Term, Uncontrolled Pilot Study

Abstract

Background: People with autism spectrum disorder (ASD) commonly experience symptoms related to
attention-deficit/hyperactivity disorder (ADHD), including hyperactivity, inattention, and impulsivity. One-third of ASD cases may be complicated by the presence of ADHD. Individuals with dual diagnoses face greater barriers to accessing treatment for ADHD and respond less positively to primary pharmacologic interventions. Nonpharmacologic technology-aided tools for hyperactivity and inattention in people with ASD are being developed, although research into their efficacy and safety remains limited.

Objective: The objective of this preliminary study was to describe the changes in ADHD-related symptoms in children, adolescents, and young adults with ASD immediately after use of the Empowered Brain system, a behavioral and social communication aid for ASD running on augmented reality smartglasses.

Methods: We recruited 8 children, adolescents, and young adults with ASD (male to female ratio of 7:1, mean age 15 years, range 11.7-20.5 years) through a Web-based research signup form. The baseline score on the hyperactivity subscale of the Aberrant Behavioral Checklist (ABC-H), a measure of hyperactivity, inattention, and impulsivity, determined their classification into a
high ADHD-related symptom group (n=4, ABC-H≥13) and a low ADHD-related symptom group (n=4, ABC-H<13). All participants received an intervention with Empowered Brain, where they used smartglasses-based social communication and behavioral modules while interacting with their caregiver. We then calculated caregiver-reported ABC-H scores at 24 and 48 hours after the session.

Results: All 8 participants were able to complete the intervention session. Postintervention ABC-H scores were lower for most participants at 24 hours (n=6, 75%) and for all participants at 48 hours (n=8, 100%). At 24 hours after the session, average participant ABC-H scores decreased by 54.9% in the high ADHD symptom group and by 20% in the low ADHD symptom group. At 48 hours after the session, ABC-H scores compared with baseline decreased by 56.4% in the high ADHD symptom group and
by 66.3% in the low ADHD symptom group.

Conclusions: This study provides initial evidence for the possible potential of the Empowered Brain system to reduce ADHD-related symptoms, such as hyperactivity, inattention, and impulsivity, in school-aged children, adolescents, and young adults with ASD. This digital smartglasses intervention can potentially be targeted at a broader array of mental health conditions that exhibit transdiagnostic attentional and social communication deficits, including schizophrenia and bipolar disorder. Further
research is required to understand the clinical importance of these observed changes and to conduct longitudinal studies on this intervention with control groups and larger sample sizes.

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Emotional face recognition in male adolescents with autism spectrum disorder or disruptive behavior disorder: an eye‑tracking study

 Emotional face recognition in male adolescents with autism spectrum disorder or disruptive behavior disorder: an eye‑tracking study

Abstract
Autism Spectrum Disorder (ASD), Oppositional Defiant Disorder (ODD), and Conduct Disorder (CD) are often associated with emotion recognition difficulties. This is the first eye-tracking study to examine emotional face recognition (i.e., gazing behavior) in a direct comparison of male adolescents with Autism Spectrum Disorder or Oppositional Defiant Disorder/ Conduct Disorder, and typically developing (TD) individuals. We also investigate the role of psychopathic traits, callous– unemotional (CU) traits, and subtypes of aggressive behavior in emotional face recognition. A total of 122 male adolescents (N = 50 ASD, N = 44 ODD/CD, and N = 28 TD) aged 12–19 years (M = 15.4 years, SD= 1.9) were included in the current study for the eye-tracking experiment. Participants were presented with neutral and emotional faces using a Tobii 1750 eye-tracking monitor to record gaze behavior. Our main dependent eye-tracking variables were: (1) fixation duration to the eyes of a face and (2) time to the first fixation to the eyes. Since distributions of eye-tracking variables were not completely Gaussian, non-parametric tests were chosen to investigate gaze behavior across the diagnostic groups with Autism Spectrum Disorder, Oppositional Defiant Disorder/Conduct Disorder, and Typically Developing individuals. Furthermore, we used Spearman correlations to investigate the links with psychopathy, callous, and unemotional traits and subtypes of aggression as assessed by questionnaires. The relative total fixation duration to the eyes was decreased in both the Autism Spectrum
Disorder group and the Oppositional Defiant Disorder/Conduct Disorder group for several emotional expressions. In both the Autism Spectrum Disorder and the Oppositional Defiant Disorder/Conduct Disorder group, increased time to first fixation on the eyes of fearful faces only was nominally significant. The time to first fixation on the eyes was nominally correlated with psychopathic traits and proactive aggression. The current findings do not support strong claims for differential cross-disorder
eye-gazing deficits and for a role of shared underlying psychopathic traits, callous–unemotional traits, and aggression subtypes. Our data provide valuable and novel insights into gaze timing distributions when looking at the eyes of a fearful face.

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Technology use as a support tool by secondary students with autism

 Technology use as a support tool by secondary students with autism

Abstract
The purpose of this study was to examine how secondary students with autism spectrum disorder use technology in supportive ways. In this self-report survey study, 472 adolescents with autism spectrum disorder enrolled in high school described the forms of technology they use and purposes for which they use it. Students reported the benefits as well as barriers to technology use at school. They reported using technology in school and home settings in a variety of supportive ways such as increasing their independence, reducing their anxiety, and increasing their social opportunities. Findings suggest that practitioners may benefit from learning how to integrate technology as an instructional and support
tool for their students with autism spectrum disorder. Recommendations for future research are provided.

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Automatic emotion and attention analysis of young children at home: a ResearchKit autism feasibility study

 Automatic emotion and attention analysis of young children at home: a ResearchKit autism feasibility study

Current tools for objectively measuring young children’s observed behaviors are expensive, time-consuming, and require extensive training and professional administration. The lack of scalable, reliable, and validated tools impacts access to evidence-based knowledge and limits our capacity to collect population-level data in non-clinical settings. To address this gap, we developed mobile technology to collect videos of young children while they watched movies designed to elicit autism-related behaviors and then used automatic behavioral coding of these videos to quantify children’s emotions and behaviors. We present results from our iPhone study Autism & Beyond, built on ResearchKit’s open-source platform. The entire study—from an e-Consent process to stimuli presentation and data collection—was conducted within an iPhone-based app available in the Apple Store. Over 1 year, 1756 families with children aged 12–72 months old participated in the study, completing 5618 caregiver-reported surveys and uploading 4441 videos recorded in the child’s natural settings. Usable data were collected on 87.6% of the uploaded videos. Automatic coding identified significant differences in emotion and attention by age, sex, and autism risk status. This study demonstrates the acceptability of an app-based tool to caregivers, their willingness to upload videos of their children, the feasibility of caregiver-collected data in the home, and the application of automatic behavioral encoding to quantify emotions and attention variables that are clinically meaningful and may be refined to screen children for autism and developmental disorders outside of

clinical settings. This technology has the potential to transform how we screen and monitor children’s development. CLICK HERE FOR FULL PDF

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Social anxiety in autism spectrum disorder: A systematic review

Social anxiety in autism spectrum disorder: A systematic review

A B S T R A C T
Purpose: Social anxiety (SA) commonly co-occurs with autism spectrum disorders (ASD). It is
conceivable that inherent socio-communication impairments, or their impact on social experiences, contribute to the development of SA.

Method: We undertook a systematic review to summarise English-language research about relationships between core ASD symptoms and SA in individuals with ASD.

Results: We searched five databases for studies published up until 28 July 2017. Of 1481 publications retrieved, 24 cross-sectional studies (described in 25 papers) met the inclusion criteria.
Given methodological and clinical heterogeneity, data were synthesised narratively. SA, in individuals with ASD, was associated with poorer social skills and functioning, and reduced social
motivation. There were associations between self-report SA and ASD measures, but a trend towards non-significant relationships between parent-ratings of these symptoms. Tentative evidence indicated that SA symptoms were not associated with restricted, repetitive behaviours or
sensory sensitivities.

Conclusion: These findings support the notion that there are links between core ASD characteristics and SA. Further studies, employing qualitative and quantitative designs are needed to
enhance understanding of causal, maintaining and protective mechanisms for SA in ASD.

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Machine learning approach for early detection of autism by combining questionnaire and home video screening

Machine learning approach for early detection of autism by combining questionnaire and home video screening

ABSTRACT
Background: Existing screening tools for early detection of autism are expensive, cumbersome, time- intensive, and sometimes fall short in predictive value. In this work, we sought to apply Machine Learning (ML) to gold standard clinical data obtained across thousands of children at-risk for autism spectrum disorder to create a low-cost, quick, and easy to apply autism screening tool.

Methods: Two algorithms are trained to identify autism, one based on short, structured parent-reported questionnaires and the other on tagging key behaviors from short, semi-structured home videos of children. A combination algorithm is then used to combine the results into a single assessment of higher accuracy. To overcome the scarcity, sparsity, and imbalance of training data, we apply novel feature selection, feature engineering, and feature encoding techniques. We allow for inconclusive determination where appropriate in order to boost screening accuracy when conclusive. The performance is then validated in a controlled clinical study.

Results: A multi-center clinical study of n ¼ 162 children is performed to ascertain the performance of these algorithms and their combination. We demonstrate a significant accuracy improvement over standard screening tools in measurements of AUC, sensitivity, and specificity.

Conclusion: These findings suggest that a mobile, machine learning process is a reliable method for detection of autism outside of clinical settings. A variety of confounding factors in the clinical analysis are discussed along with the solutions engineered into the algorithms. Final results are statistically limited and will benefit from future clinical studies to extend the sample size

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Neonatal Transitions in Social Behavior and Their Implications for Autism

Neonatal Transitions in Social Behavior and Their Implications for Autism

Abstract
Within the context of early infant–caregiver interaction, we review a series of pivotal transitions
that occur within the first 6 months of typical infancy, with emphasis on behavior and brain
mechanisms involved in preferential orientation towards, and interaction with, other people. Our
goal in reviewing these transitions is to better understand how they may lay a necessary and/or
sufficient groundwork for subsequent phases of development, and also to understand how the
breakdown thereof, when development is atypical and those transitions become derailed, may
instead yield disability. We review these developmental processes in light of recent studies
documenting disruptions to early-emerging brain and behavior mechanisms in infants later
diagnosed with autism spectrum disorder, shedding light on the brain–behavior pathogenesis of
autism.

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Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014

Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014

Abstract
Problem/Condition: Autism spectrum disorder (ASD). Period Covered: 2014.

Description of System: The Autism and Developmental Disabilities Monitoring (ADDM) Network is an active surveillance system that provides estimates of the prevalence of autism spectrum disorder (ASD) among children aged 8 years whose parents or guardians reside within 11 ADDM sites in the United States (Arizona, Arkansas, Colorado, Georgia, Maryland, Minnesota, Missouri, New Jersey, North Carolina, Tennessee, and Wisconsin). ADDM surveillance is conducted in two phases. The first
phase involves review and abstraction of comprehensive evaluations that were completed by professional service providers in the community. Staff completing record review and abstraction receive extensive training and supervision and are evaluated according to strict reliability standards to certify effective initial training, identify ongoing training needs, and ensure adherence to the
prescribed methodology. Record review and abstraction occurs in a variety of data sources ranging from general pediatric health clinics to specialized programs serving children with developmental disabilities. In addition, most of the ADDM sites also review records for children who have received special education services in public schools. In the second phase of the study, all abstracted
information is reviewed systematically by experienced clinicians to determine ASD case status. A child is considered to meet the surveillance case definition for ASD if he or she displays behaviors, as described on one or more comprehensive evaluations completed by community-based professional providers, consistent with the Diagnostic and Statistical Manual of Mental Disorders,
Fourth Edition, Text Revision (DSM-IV-TR) diagnostic criteria for autistic disorder; pervasive developmental disorder–not otherwise specified (PDD-NOS, including atypical autism); or Asperger disorder. This report provides updated ASD prevalence estimates for children aged 8 years during the 2014 surveillance year, on the basis of DSM-IV-TR criteria, and describes characteristics of the
population of children with ASD. In 2013, the American Psychiatric Association published the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), which made considerable changes to ASD diagnostic criteria. The change in ASD diagnostic criteria might influence ADDM ASD prevalence estimates; therefore, most (85%) of the records used to determine
prevalence estimates based on DSM-IV-TR criteria underwent additional review under a newly operationalized surveillance case definition for ASD consistent with the DSM-5 diagnostic criteria. Children meeting this new surveillance case definition could qualify on the basis of one or both of the following criteria, as documented in abstracted comprehensive evaluations: 1) behaviors
consistent with the DSM-5 diagnostic features; and/or 2) an ASD diagnosis, whether based on DSM-IV-TR or DSM-5 diagnostic criteria. Stratified comparisons of the number of children meeting either of these two case definitions also are reported.  

 

Results: For 2014, the overall prevalence of ASD among the 11 ADDM sites was 16.8 per 1,000 (one in 59) children aged 8 years. Overall ASD prevalence estimates varied among sites, from 13.1–29.3 per 1,000 children aged 8 years. ASD prevalence estimates also varied by sex and race/ethnicity. Males were four times more likely than females to be identified with ASD. Prevalence estimates
were higher for non-Hispanic white (henceforth, white) children compared with non-Hispanic black (henceforth, black) children, and both groups were more likely to be identified with ASD compared with Hispanic children. Among the nine sites with sufficient data on intellectual ability, 31% of children with ASD were classified in the range of intellectual disability (intelligence quotient [IQ] <70), 25% were in the borderline range (IQ 71–85), and 44% had IQ scores in the average to above average range (i.e., IQ >85). The distribution of intellectual ability varied by sex and race/ethnicity. Although mention of developmental concerns by age 36 months was documented for 85% of children with ASD, only 42% had a comprehensive evaluation on record by age 36 months. The median age of earliest known ASD diagnosis was 52 months and did not differ significantly by sex or race/ethnicity. For the targeted comparison of DSM-IV-TR and DSM-5 results, the number and characteristics of children meeting the newly operationalized DSM-5 case definition for ASD were similar to those meeting the DSM-IV-TR case definition, with DSM-IV-TR case counts exceeding DSM-5 counts by less than 5% and approximately 86% overlap between the two case definitions (kappa = 0.85). 

Interpretation: Findings from the ADDM Network, on the basis of 2014 data reported from 11 sites, provide updated populationbased estimates of the prevalence of ASD among children aged 8 years in multiple communities in the United States. The overall ASD prevalence estimate of 16.8 per 1,000 children aged 8 years in 2014 is higher than previously reported estimates from the
ADDM Network. Because the ADDM sites do not provide a representative sample of the entire United States, the combined prevalence estimates presented in this report cannot be generalized to all children aged 8 years in the United States. Consistent with reports from previous ADDM surveillance years, findings from 2014 were marked by variation in ASD prevalence when stratified by geographic area, sex, and level of intellectual ability. Differences in prevalence estimates between black and white
children have diminished in most sites, but remained notable for Hispanic children. For 2014, results from application of the DSM-IV-TR and DSM-5 case definitions were similar, overall and when stratified by sex, race/ethnicity, DSM-IV-TR diagnostic subtype, or level of intellectual ability.

Public Health Action: Beginning with surveillance year 2016, the DSM-5 case definition will serve as the basis for ADDM estimates of ASD prevalence in future surveillance reports. Although the DSM-IV-TR case definition will eventually be phased out, it will be applied in a limited geographic area to offer additional data for comparison. Future analyses will examine trends in the continued use of DSM-IV-TR diagnoses, such as autistic disorder, PDD-NOS, and Asperger disorder in health and education
records, documentation of symptoms consistent with DSM-5 terminology, and how these trends might influence estimates of ASD prevalence over time. The latest findings from the ADDM Network provide evidence that the prevalence of ASD is higher than previously reported estimates and continues to vary among certain racial/ethnic groups and communities. With prevalence of ASD ranging from 13.1 to 29.3 per 1,000 children aged 8 years in different communities throughout the United States, the
need for behavioral, educational, residential, and occupational services remains high, as does the need for increased research on both genetic and nongenetic risk factors for ASD.

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Social Support, Well-being, and Quality of Life Among Individuals on the Autism Spectrum

Social Support, Well-being, and Quality of Life Among Individuals on the Autism Spectrum

Diverse theoretical perspectives1–3 and empirical findings4,5 reveal development as a complex
interaction between nature and nurture, yet the diagnosis of autism spectrum disorder is used to
classify neurodevelopmental disability mainly on the basis of individual-level social dysfunction.
Self-advocates have organized the neurodiversity movement to reclaim autism as a part of identity
(eg, using identity-first language such as “autistic person,” as in the case of the author, rather
than person-first language such as “person with autism”6,7) and support civil rights. We argue
that social environments contribute substantially to disability and seek quality of life, defined in
terms of “objective” factors of adaptive functioning, such as independent living and employment,
as well as in terms of subjective well-being, which requires self-determination to play as active
a role as possible in making decisions to have the experiences one wants. Yet we argue against
normalization and “cure,” in part because many autistic traits can function in neutral or positive
ways, although other people may misunderstand or stigmatize atypical behaviors.8–10 Indeed, the
following narrative review developed from empirical evidence replicated by independent research
teams argues against a linear relationship between autism symptoms and impaired functioning,
across developmental periods and in multiple domains of both “objective” quality of life and
in subjective well-being. In the following syntheses, I suggest that effective social support and
subjective well-being mediate whether autistic people achieve a high quality of life. 

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Redefining Critical Autism Studies: a more inclusive interpretation

Redefining Critical Autism Studies: a more inclusive interpretation

ABSTRACT
This article explores the definition of Critical Autism Studies
and its inclusion in autistic scholarship. There has been critique
of recent non-autistic literature for lacking autistic authorship,
leading to doubts about its epistemological integrity due to
misrepresentations of autistic culture and the neurodiversity
movement. This article utilises the work of Arnold, Milton
and O’Dell et al. to introduce an emancipatory definition to
ensure the discipline is autistic led. In the process, we discuss
the nature of autism studies and what constitutes critical
literature. We propose Waltz’s interpretation of Critical Autism
Studies as a working definition.

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EEG Analytics for Early Detection of Autism Spectrum Disorder: A data-driven approach

 EEG Analytics for Early Detection of Autism Spectrum Disorder: A data-driven approach

Autism spectrum disorder (ASD) is a complex and heterogeneous disorder, diagnosed on the basis
of behavioral symptoms during the second year of life or later. Finding scalable biomarkers for early
detection is challenging because of the variability in presentation of the disorder and the need for
simple measurements that could be implemented routinely during well-baby checkups. EEG is a
relatively easy-to-use, low cost brain measurement tool that is being increasingly explored as a
potential clinical tool for monitoring atypical brain development. EEG measurements were collected
from 99 infants with an older sibling diagnosed with ASD, and 89 low risk controls, beginning at 3
months of age and continuing until 36 months of age. Nonlinear features were computed from EEG
signals and used as input to statistical learning methods. Prediction of the clinical diagnostic outcome
of ASD or not ASD was highly accurate when using EEG measurements from as early as 3 months of age. Specificity, sensitivity and PPV were high, exceeding 95% at some ages. Prediction of ADOS calibrated severity scores for all infants in the study using only EEG data taken as early as 3 months of age was strongly correlated with the actual measured scores. This suggests that useful digital biomarkers might be extracted from EEG measurements

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Epigenetics and Autism Spectrum Disorder: Is There a Correlation?

Epigenetics and Autism Spectrum Disorder: Is There a Correlation?

Autism spectrum disorder (ASD) is the term for a range of development disorders caused by
a combination of genetic and environmental factors (Kubota et al., 2012; Loke et al., 2015;
Constantino and Marrus, 2017). ASD includes a “spectrum” of effects, skill detriments, and
disability—including communication issues, limited interest in activities, and other aspects of
work and life functionality. The current occurrence of ASD in the United States is about 1 in
68 children—an astonishing increase of over a factor of 100 compared to 2,000 (https://www.
cdc.gov/ncbddd/autism/addm.html) (Zablotsky et al., 2015). Thus, it is imperative to develop
novel treatment modalities for which understanding the pathogenetic factors underlying ASD
is of utmost importance. Recently, the multigenic condition of ASD has been speculated to be
dependent on epigenetic effects (Loke et al., 2015), although such exact factors remain unclear.
Epigenetics refers to the heritable changes in gene expression without changing the underlying
DNA sequence (Schiele and Domschke, 2017). In this opinion article, we will briefly discuss the
recent advancements in understanding the contribution of epigenetic factors that can play a role in
determining the predisposition to autism (Table 1). We emphasize that there is a need to include
greater sample size and appropriate tissue type in order to better understand the role of epigenetics
in ASD.

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Progress in the genetics of autism spectrum disorder

Progress in the genetics of autism spectrum disorder

A genetic basis for autism spectrum disorder (ASD) is now well established, and with the
availability of high-throughput microarray and sequencing platforms, major advances have
been made in our understanding of genetic risk factors. Rare, often de novo, copy number
and single nucleotide variants are both implicated, with many ASD-implicated genes showing
pleiotropy and variable penetrance. Additionally, common variants are also known to play a
role in ASD’s genetic etiology. These new insights into the architecture of ASD’s genetic
etiology offer opportunities for the identification of molecular targets for novel interventions,
and provide new insight for families seeking genetic counseling.

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Parent perspectives on home participation of high-functioning children with autism spectrum disorder compared with a matched group of children without autism spectrum disorder

Parent perspectives on home participation of high-functioning children with autism spectrum disorder compared with a matched group of children without autism spectrum disorder

Abstract
Few studies have focused on home participation of high-functioning children with autism spectrum disorder. We employed a mixed-methods design to explore and compare parent perspectives on (1) participation of children with and without autism spectrum disorder in activities at home, (2) the environmental features and resources that affect these children’s home participation and (3) the strategies parents use to help their children participate at home. The Participation
and Environment Measure for Children and Youth (PEM-CY) was used to gather online survey and qualitative data from parents of 99 high-functioning children with autism spectrum disorder and 241 children without autism spectrum disorder. Independent sample t-tests and χ2 tests were used to explore differences between groups, and Cohen’s d was calculated to examine effect sizes. Differences were obtained on all Participation and Environment Measure for Children and Youth dimensions but particularly when comparing parents’ satisfaction and perceived environmental barriers to their children’s participation. The qualitative analyses revealed that parents in both groups used similar
strategies to facilitate their children’s participation at home, although parents of children with autism spectrum disorder made use of more distinct modifications. Our results highlight the importance of environmental aspects and point to how practitioners can support families in their efforts to promote their child’s participation at home

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College Experiences for Students with Autism Spectrum Disorder

College Experiences for Students with Autism Spectrum Disorder

Thirty years ago it was rare for a student with autism spectrum disorder (ASD) to enter college. However, over the past decades with the increased awareness and detection of ASD in children with average or above average intellectual abilities (Christensen et al. 2016) and with the improved provisions of effective, evidence-based treatments (Reichow and Volkmar 2011) many students with ASD are now seeking enrollment in college (Volkmar et al. 2017). In the USA alone there are roughly 550,000 children with ASD who will be transitioning into adulthood over the next decade (Buescher et al. 2014), and it is expected that approximately 45% of these emerging adults will enroll in a university,
college, or technical/vocational school in the coming years (Newman et al. 2011). This is a promising trend, as completion of a post-secondary degree is a significant predictor of positive adult outcomes in ASD populations, impacting the likelihood that an individual will be able to find employment, obtain financial independence, and live independently. However, students with ASD have a lower likelihood of completing their degree (38.8%) compared to students from the general population (52.4%) and those with disabilities in general (40.7%; Newman et al. 2011).

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Maternal multivitamin intake, plasma folate and vitamin B12 levels and Autism Spectrum Disorder risk in offspring

Maternal multivitamin intake, plasma folate and vitamin B12levels and Autism Spectrum Disorder risk in  offspring

Abstract
Background—To examine the prospective association between multivitamin supplementation
during pregnancy and biomarker measures of maternal plasma folate and vitamin B12 levels at
birth and child's Autism Spectrum Disorder (ASD) risk.

Methods—This report included 1257 mother-child pairs, who were recruited at birth and
prospectively followed through childhood at the Boston Medical Center. ASD was defined from
diagnostic codes in electronic medical records. Maternal multivitamin supplementation was
assessed via questionnaire interview; maternal plasma folate and B12 were measured from samples
taken 2-3 days after birth.

Results—Moderate (3-5 times/week) self-reported supplementation during pregnancy was
associated with decreased risk of ASD, consistent with previous findings. Using this as the reference group, low (≤2 times/week) and high (>5 times/week) supplementation was associatedwith increased risk of ASD. Very high levels of maternal plasma folate at birth (≥60.3 nmol/L) had2.5 times increased risk of ASD (95% confidence interval [CI] 1.3, 4.6) compared to folate levelsin the middle 80th percentile, after adjusting for covariates including MTHFR genotype. Similarly,very high B12 (≥536.8 pmol/L) showed 2.5 times increased risk (95% CI 1.4, 4.5).

Conclusion—There was a “U” shaped relationship between maternal multivitamin

supplementation frequency and ASD risk. Extremely high maternal plasma folate and B12 levels at

birth were associated with ASD risk. This hypothesis-generating study does not question the

importance of consuming adequate folic acid and vitamin B12 during pregnancy; rather, raises new

questions about the impact of extremely elevated levels of plasma folate and B12 exposure in-utero

on early brain development.

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