Search

In this retrospective cohort study using data from an integrated primary care and subspecialty network, we examined medical records of children seen in primary care at eligible autism spectrum disorder (ASD) screening ages and followed through at least 4 years of age. We examined the prevalence of ASD; age of first documented ASD diagnosis; and whether the prevalence and age of documented diagnosis varied by race, ethnicity, socio-economic status (SES) and site of care (urban versus suburban/rural). The prevalence of ASD across the cohort was 3.2%, with a median age of diagnosis of 3.93 years. ASD prevalence was unexpectedly higher among Asian children, non-Hispanic Black children, children with higher Social Vulnerability Index scores (a neighborhood-level proxy of socio-economic risk), and children who received care in urban primary care sites. There were no statistically significant differences in age at which ASD diagnosis was documented across socio-demographic groups. Receiving primary care at an urban site accounted for most other socio-demographic differences in ASD prevalence rates, except among Asian children, who were found to have higher adjusted odds of ASD diagnosis compared to White children (aOR = 1.82, p < 0.001). Determining what clinical-, individual- or systems-level factors contribute to ASD diagnosis remains important to improve equity.

Both anxiety and autism spectrum disorder (ASD) are associated with atypical physiological activity. Few studies have systematically assessed the resting physiological activity in ASD with co-occurring anxiety disorders. We tested 75 participants divided in four groups: youth with ASD, with (ASD + Anxiety = 22, 6F, 12.29 ± 2.83 years old) and without co-occurring anxiety (ASD Alone = 15, 6F, 11.59 ± 2.85 years old) and compared their physiological profile with that of matched typically developing controls (TDC) with (Anxiety Alone = 16, 6F, 11.24 ± 3.36 years old) and without co-occurring anxiety disorders (TDC = 22, 8F, 11.88 ± 2.88 years old). Results indicated reduced sympathetic and parasympathetic activity at rest in ASD as compared to TDC youth. ASD + Anxiety and Anxiety Alone groups showed different sympathetic, but similar parasympathetic activity. These findings suggest that autonomic profile-based approaches may advance research, diagnosis, and treatment of ASD and anxiety.

ObjectiveCertain copy number variants (CNVs) greatly increase the risk of autism. The authors conducted a genetics-first study to investigate whether heterogeneity in the clinical presentation of autism is underpinned by specific genotype-phenotype relationships.MethodsThis international study included 547 individuals (mean age, 12.3 years [SD=4.2], 54% male) who were ascertained on the basis of having a genetic diagnosis of a rare CNV associated with high risk of autism (82 16p11.2 deletion carriers, 50 16p11.2 duplication carriers, 370 22q11.2 deletion carriers, and 45 22q11.2 duplication carriers), as well as 2,027 individuals (mean age, 9.1 years [SD=4.9], 86% male) with autism of heterogeneous etiology. Assessments included the Autism Diagnostic Interview-Revised and IQ testing.ResultsThe four genetic variant groups differed in autism symptom severity, autism subdomain profile, and IQ profile. However, substantial variability was observed in phenotypic outcome in individual genetic variant groups (74%-97% of the variance, depending on the trait), whereas variability between groups was low (1%-21%, depending on the trait). CNV carriers who met autism criteria were compared with individuals with heterogeneous autism, and a range of profile differences were identified. When clinical cutoff scores were applied, 54% of individuals with one of the four CNVs who did not meet full autism diagnostic criteria had elevated levels of autistic traits.ConclusionsMany CNV carriers do not meet full diagnostic criteria for autism but nevertheless meet clinical cutoffs for autistic traits. Although profile differences between variants were observed, there is considerable variability in clinical symptoms in the same variant.

Lay abstractMost autistic adults struggle with mental health problems, such as anxiety and depression. However, they often have trouble finding effective mental health treatment in their community. The goal of this study was to identify ways to improve community mental health services for autistic adults. We interviewed 22 autistic adults with mental healthcare experience, 44 community mental health clinicians (outpatient therapists, case managers, and intake coordinators), and 11 community mental health agency leaders in the United States. Our participants identified a variety of barriers to providing quality mental healthcare to autistic adults. Across all three groups, most of the reported barriers involved clinicians' limited knowledge, lack of experience, poor competence, and low confidence working with autistic adults. All three groups also discussed the disconnect between the community mental health and developmental disabilities systems and the need to improve communication between these two systems. Further efforts are needed to train clinicians and provide follow-up consultation to work more effectively with autistic adults. A common suggestion from all three groups was to include autistic adults in creating and delivering the clinician training. The autistic participants provided concrete recommendations for clinicians, such as consider sensory issues, slow the pace, incorporate special interests, use direct language, and set clear expectations. Our findings also highlight a need for community education about co-occurring psychiatric conditions with autism and available treatments, in order to increase awareness about treatment options.

Cognitive-behavioral therapy (CBT) can improve anxiety and depression in autistic adults, but few autistic adults receive this treatment. We examined factors that may influence clinicians' use of CBT with autistic adults. One hundred clinicians completed an online survey. Clinicians reported stronger intentions (p = .001), more favorable attitudes (p

Objective: The Janssen Autism Knowledge Engine (JAKE®) is a clinical research outcomes assessment system developed to more sensitively measure treatment outcomes and identify subpopulations in autism spectrum disorder (ASD). Here we describe JAKE and present results from its digital phenotyping (My JAKE) and biosensor (JAKE Sense) components. Methods: An observational, non-interventional, prospective study of JAKE in children and adults with ASD was conducted at nine sites in the United States. Feedback on JAKE usability was obtained from caregivers. JAKE Sense included electroencephalography, eye tracking, electrocardiography, electrodermal activity, facial affect analysis, and actigraphy. Caregivers of individuals with ASD reported behaviors using My JAKE. Results from My JAKE and JAKE Sense were compared to traditional ASD symptom measures. Results: Individuals with ASD (N = 144) and a cohort of typically developing (TD) individuals (N = 41) participated in JAKE Sense. Most caregivers reported that overall use and utility of My JAKE was "easy" (69%, 74/108) or "very easy" (74%, 80/108). My JAKE could detect differences in ASD symptoms as measured by traditional methods. The majority of biosensors included in JAKE Sense captured sizable amounts of quality data (i.e., 93-100% of eye tracker, facial affect analysis, and electrocardiogram data was of good quality), demonstrated differences between TD and ASD individuals, and correlated with ASD symptom scales. No significant safety events were reported. Conclusions: My JAKE was viewed as easy or very easy to use by caregivers participating in research outside of a clinical study. My JAKE sensitively measured a broad range of ASD symptoms. JAKE Sense biosensors were well-tolerated. JAKE functioned well when used at clinical sites previously inexperienced with some of the technologies. Lessons from the study will optimize JAKE for use in clinical trials to assess ASD interventions. Additionally, because biosensors were able to detect features differentiating TD and ASD individuals, and also were correlated with standardized symptom scales, these measures could be explored as potential biomarkers for ASD and as endpoints in future clinical studies. Clinical Trial Registration: https://clinicaltrials.gov/ct2/show/NCT02668991 identifier: NCT02668991.

Although norm-referenced scores are essential to the identification of disability, they possess several features which affect their sensitivity to change. Norm-referenced scores often decrease over time among people with neurodevelopmental disorders who exhibit slower-than-average increases in ability. Further, the reliability of norm-referenced scores is lower at the tails of the distribution, resulting in floor effects and increased measurement error for people with neurodevelopmental disorders. In contrast, the person ability scores generated during the process of constructing a standardized test with item response theory are designed to assess change. We illustrate these limitations of norm-referenced scores, and relative advantages of ability scores, using data from studies of autism spectrum disorder and creatine transporter deficiency.

Anxiety often co-occurs with autism spectrum disorder, yet there are few valid and reliable instruments for measuring anxiety in youth with autism spectrum disorder. This article describes the modification of the Pediatric Anxiety Rating Scale for youth with autism spectrum disorder and systematic psychometric evaluation in a well-characterized sample of 116 youth (age: 5-17 years) with autism spectrum disorder and a range of anxiety symptoms. The clinician-administered-Pediatric Anxiety Rating Scale for youth with autism spectrum disorder was modified with input from parents of children with autism spectrum disorder and an expert panel. Unlike many other anxiety measures, the Pediatric Anxiety Rating Scale for youth with autism spectrum disorder is more focused on behavioral manifestations of anxiety versus verbal expression. Results provide preliminary support for the psychometric properties of the Pediatric Anxiety Rating Scale for youth with autism spectrum disorder. The internal consistency of the Pediatric Anxiety Rating Scale for youth with autism spectrum disorder was 0.90. The Pediatric Anxiety Rating Scale for youth with autism spectrum disorder was strongly correlated with parent-report anxiety measures (rs=0.62-0.68), supporting convergent validity. In support of divergent validity, correlations between the Pediatric Anxiety Rating Scale for youth with autism spectrum disorder and parent ratings of autism spectrum disorder symptoms, social withdrawal, stereotypy, hyperactivity, inappropriate speech, and repetitive behaviors were low (rs=0.13-0.32). The Pediatric Anxiety Rating Scale for youth with autism spectrum disorder was moderately correlated with parent-reported irritability (r=0.52). The Pediatric Anxiety Rating Scale for youth with autism spectrum disorder showed good test-retest reliability (intraclass correlation coefficient=0.75-0.82) and inter-rater reliability (ICCs=0.70-0.92). Overall, results support the use of the Pediatric Anxiety Rating Scale for youth with autism spectrum disorder for assessing anxiety in youth with autism spectrum disorder.

Most autistic adults struggle with mental health problems, and traditional mental health services generally do not meet their needs. This study used qualitative methods to identify ways to improve community mental health services for autistic adults for treatment of their co-occurring psychiatric conditions. We conducted semistructured, open-ended interviews with 22 autistic adults with mental healthcare experience, 44 community mental health clinicians, and 11 community mental health agency leaders in the United States. The participants identified clinician-, client-, and systems-level barriers and facilitators to providing quality mental healthcare to autistic adults. Across all three stakeholder groups, most of the reported barriers involved clinicians' limited knowledge, lack of experience, poor competence, and low confidence working with autistic adults. All three groups also discussed the disconnect between the community mental health and developmental disabilities systems, which can result in autistic adults being turned away from services when they contact the mental health division and disclose their autism diagnosis during the intake process. Further efforts are needed to train clinicians to work more effectively with autistic adults and to increase coordination between the mental health and developmental disabilities systems.

Cognitive-behavioral therapy (CBT) can improve anxiety and depression in autistic adults, but few autistic adults receive this treatment. We examined factors that may influence clinicians' use of CBT with autistic adults. One hundred clinicians completed an online survey. Clinicians reported stronger intentions (p = 0.001), more favorable attitudes (p < 0.001), greater normative pressure (p < 0.001), and higher self-efficacy (p < 0.001) to start CBT with non-autistic adults than with autistic adults. The only significant predictor of intentions to begin CBT with clients with anxiety or depression was clinicians' attitudes (p < 0.001), with more favorable attitudes predicting stronger intentions. These findings are valuable for designing effective, tailored implementation strategies to increase clinicians' adoption of CBT for autistic adults.

ObjectiveNeurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments and social difficulties. We aimed to: (1) evaluate ASD characteristics in research cohorts of SCA males under DSM-IV compared to DSM-5 criteria, and (2) analyze factors associated with ASD diagnoses in SCA.MethodsEvaluation of participants with XXY/KS (n=20), XYY (n=57) and XXYY (n=21) included medical history, cognitive/adaptive testing, Social Communication Questionnaire, Social Responsiveness Scale, Autism Diagnostic Observation Schedule, Autism Diagnostic Interview-Revised, and DSM ASD criteria. Clinical impressions of ASD diagnostic category using the ADOS and DSM-IV criteria were compared to ADOS-2 and DSM-5 criteria. T-tests compared cognitive, adaptive, SES and prenatal vs. postnatal diagnoses between ASD and no ASD groups.ResultsASD rates in these research cohorts were 10% in XXY/KS, 38% in XYY, and 52% in XXYY using ADOS-2/DSM-5, and were not statistically different compared to DSM-IV criteria. In XYY and XXYY, the ASD group had lower verbal IQ and adaptive functioning compared to those without ASD. Many children without ASD still showed some social difficulties.ConclusionASD rates in males with SCA are higher than reported for the general population. Males with Y chromosome aneuploidy (XYY and XXYY) were 4.8 times more likely to have a diagnosis of ASD than the XXY/KS group, and 20 times more likely than males in the general population (1 in 42 males, CDC 2010). ASD should be considered when evaluating social difficulties in SCA. Studies of SCA and Y-chromosome genes may provide insight into male predominance in idiopathic ASD.

Many children with autism spectrum disorder display challenging behaviors. These behaviors are not limited to those with cognitive and/or language impairments. The Collaborative and Proactive Solutions framework proposes that challenging behaviors result from an incompatibility between environmental demands and a child's "lagging skills." The primary Collaborative and Proactive Solutions lagging skills--executive function, emotion regulation, language, and social skills--are often areas of weakness for individuals with autism spectrum disorder. The purpose of this study was to evaluate whether these lagging skills are associated with challenging behaviors in youth with autism spectrum disorder without intellectual disability. Parents of 182 youth with autism spectrum disorder (6-15 years) completed measures of their children's challenging behaviors, executive function, language, emotion regulation, and social skills. We tested whether the Collaborative and Proactive Solutions lagging skills predicted challenging behaviors using multiple linear regression. The Collaborative and Proactive Solutions lagging skills explained significant variance in participants' challenging behaviors. The Depression (emotion regulation), Inhibit (executive function), and Sameness (executive function) scales emerged as significant predictors. Impairments in emotion regulation and executive function may contribute substantially to aggressive and oppositional behaviors in school-age youth with autism spectrum disorder without intellectual disability. Treatment for challenging behaviors in this group may consider targeting the incompatibility between environmental demands and a child's lagging skills.

Seizures occur in up to 59% of boys with creatine transporter deficiency (CTD). While seizure phenotypes have been previously described, electroencephalogram (EEG) findings have only been reported in several case reports. In this prospective observational study, we report seizure characteristics and EEG findings in combination with neurobehavioral and SLC6A8 pathogenic variants in twenty males with CTD. Eighteen study participants (SP) underwent video‐EEG, and seven had follow‐up EEG recordings. Seizures typically occurred by age of 2 years. Thirteen (65%) had non‐febrile seizures, requiring anti‐seizure medications in nine. Four had febrile seizures. Seizures were bilateral tonic–clonic in 7 SP and focal impaired awareness in 5 SP; often responding to 1 to 2 antiseizure medications. EEG showed slowing in 5 SP, beta activity in 6 SP, and focal/multifocal, and/or generalized epileptiform activity in 9 SP. Follow‐up EEGs in 7 SP showed emergence of epileptiform activity in 1 SP, and increased activity in 2 SP. In conclusion, seizures were frequent in our cohort but tended to respond to antiseizure medications. Longitudinal follow up provided further insight into emergence of seizures and EEG abnormalities soliciting future studies with long term follow up. Biomarkers of epileptogenicity in CTD are needed to predict seizures in this population. [ABSTRACT FROM AUTHOR]

To determine the rate and predictors of autism spectrum disorder (ASD) in congenital diaphragmatic hernia (CDH). Between 06/2004 and 09/2015 a total of 110 CDH survivors underwent neurodevelopmental (ND) testing and screening for ASD, followed by a full autism diagnostic evaluation if indicated at our institution. We found a 9 time higher rate of ASD in CDH children compared to the general population (P = 0.0002). Multiple patient-related and clinical variables risk factors of ASD were identified by univariate analysis. However, only short-term and long-term neurodevelopmental delays were strongly associated with ASD in CDH by multivariate comparisons. There is a striking prevalence of ASD in CDH survivors and our findings suggest that all CDH children should be regularly screened for ASD.

Recent studies suggest that longstanding findings of abnormal amygdala morphology in ASD may be related to symptoms of anxiety. To test this hypothesis, fifty-three children with ASD (mean age = 11.9) underwent structural MRI and were divided into subgroups to compare those with at least one anxiety disorder diagnosis (n = 29) to those without (n = 24) and to a typically developing control group (TDC; n = 37). Groups were matched on age and intellectual level. The ASD and anxiety group showed decreased right amygdala volume (controlled for total brain volume) relative to ASD without anxiety (p = 0.04) and TDCs (p = 0.068). Results suggest that youth with ASD and co-occurring anxiety have a distinct neurodevelopmental trajectory.

The Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), Module 4 is considered a "gold-standard" instrument for diagnosing autism spectrum disorder (ASD) in adults. Although the ADOS-2 shows good sensitivity and specificity in lab-based settings, it is unknown whether these results hold in community clinics that serve a more psychiatrically impaired population. This study is the first to evaluate the diagnostic accuracy of the ADOS-2 among adults in community mental health centers (n = 75). The ADOS-2 accurately identified all adults with ASD; however, it also had a high rate of false positives among adults with psychosis (30%). Findings serve as a reminder that social communication difficulties measured by the ADOS-2 are not specific to ASD, particularly in clinically complex settings.

In this retrospective cohort study using data from an integrated primary care and subspecialty network, we examined medical records of children seen in primary care at eligible autism spectrum disorder (ASD) screening ages and followed through at least 4 years of age. We examined the prevalence of ASD; age of first documented ASD diagnosis; and whether the prevalence and age of documented diagnosis varied by race, ethnicity, socio-economic status (SES) and site of care (urban versus suburban/rural). The prevalence of ASD across the cohort was 3.2%, with a median age of diagnosis of 3.93 years. ASD prevalence was unexpectedly higher among Asian children, non-Hispanic Black children, children with higher Social Vulnerability Index scores (a neighborhood-level proxy of socio-economic risk), and children who received care in urban primary care sites. There were no statistically significant differences in age at which ASD diagnosis was documented across socio-demographic groups. Receiving primary care at an urban site accounted for most other socio-demographic differences in ASD prevalence rates, except among Asian children, who were found to have higher adjusted odds of ASD diagnosis compared to White children (aOR = 1.82, p <.001). Determining what clinical-, individual- or systems-level factors contribute to ASD diagnosis remains important to improve equity. Historically, children from non-Hispanic Black and Hispanic backgrounds, those from lower-income families, and girls are less likely to be diagnosed with autism spectrum disorder. Under-identification among these historically and contemporaneously marginalized groups can limit their access to early, autism spectrum disorder-specific interventions, which can have long-term negative impacts. Recent data suggest that some of these trends may be narrowing, or even reversing. Using electronic health record data, we calculated autism spectrum disorder prevalence rates and age of first documented diagnosis across socio-demographic groups. Our cohort included children seen at young ages (when eligible for screening in early childhood) and again at least after 4 years of age in a large primary care network. We found that autism spectrum disorder prevalence was unexpectedly higher among Asian children, non-Hispanic Black children, children with higher Social Vulnerability Index scores (a measure of socio-economic risk at the neighborhood level), and children who received care in urban primary care sites. We did not find differences in the age at which autism spectrum disorder diagnoses were documented in children's records across these groups. Receiving primary care at an urban site (regardless of location of specialty care) appeared to account for most other socio-demographic differences in autism spectrum disorder prevalence rates, except among Asian children, who remained more likely to be diagnosed with autism spectrum disorder after controlling for other factors. We must continue to better understand the process by which children with autism spectrum disorder from traditionally under-identified and under-served backgrounds come to be recognized, to continue to improve the equity of care. [ABSTRACT FROM AUTHOR]

Author(s): Enrico Danzer [sup.1] , Casey Hoffman [sup.1 ] , Jo Ann D'Agostino [sup.1] , Judith S. Miller [sup.2] , Lindsay N. Waqar [sup.1] , Marsha Gerdes [sup.1] , Judy [...]

Prenatal and perinatal risk factors associated with intellectual disability (ID) were studied in 8-year-old Utah children from a 1994 birth cohort (N = 26,108) using broad ascertainment methods and birth records following the most current recording guidelines. Risk factor analyses were performed inclusive and exclusive of children with a known or suspected underlying genetic disorder. Risk factors identified were poly/oligohydramnios, advanced paternal/maternal age, prematurity, fetal distress, premature rupture of membranes, primary/repeat cesarean sections, low birth weight, assisted ventilation greater than 30 min, small-for-gestational age, low Apgar scores, and congenital infection. Although several risk factors lost significance once children with underlying genetic disorders were excluded, socioeconomic variables were among those that maintained a prominent association with increased ID risk.

The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59%) of the 108 originally "Diagnosed Not Autistic" met the current ASD case definition. The average IQ estimate in the newly identified group (IQ = 35.58; SD = 23.01) was significantly lower than in the original group (IQ = 56.19 SD = 21.21; t = 5.75; p less than 0.0001). Today's diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability. The current analysis puts this historic work into context and highlights differences in ascertainment between epidemiological studies performed decades ago and those of today.

The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59 %) of the 108 originally 'Diagnosed Not Autistic' met the current ASD case definition. The average IQ estimate in the newly identified group (IQ = 35.58; SD = 23.01) was significantly lower than in the original group (IQ = 56.19 SD = 21.21; t = 5.75; p < .0001). Today's diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability. The current analysis puts this historic work into context and highlights differences in ascertainment between epidemiological studies performed decades ago and those of today. Keywords Autism * Epidemiology * Prevalence * Diagnostic criteria * Intellectual disability, Introduction The rising prevalence of autism spectrum disorders (ASDs) identified in today's youth stimulates significant public health concern and fuels debates over the underlying cause of this phenomenon. The ASD [...]