Autism Heterogeneity in a Densely Sampled U.S. Population: Results From the First 1,000 Participants in the RI-CART Study.

The objective of this study was to establish a large, densely sampled, U.S. population-based cohort of people with autism spectrum disorder (ASD). The Rhode Island Consortium for Autism Research and Treatment (RI-CART) represents a unique public-private-academic collaboration involving all major points of service for families in Rhode Island affected by ASD. Diagnosis was based on direct behavioral observation via the Autism Diagnostic Observation Schedule, Second Edition. For the first 1,000 participants, ages ranged from 21 months to 64 years. Using Geographic Information System and published prevalence rates, the overall cohort is estimated to represent between 20% and 49% of pediatric age persons in Rhode Island with ASD, with demographics representative of U.S. Census. We observed a high rate of co-occurring medical and psychiatric conditions in affected individuals. Among the most prominent findings of immediate clinical importance, we found that females received a first diagnosis of ASD at a later age than males, potentially due to more advanced language abilities in females with ASD. In summary, this is the first analysis of a large, population-based U.S. cohort with ASD. Given the depth of sampling, the RI-CART study reflects an important new resource for studying ASD in a representative U.S. population. Psychiatric and medical comorbidities in ASD constitute a substantial burden and warrant adequate attention as part of overall treatment. Our study also suggests that new strategies for earlier diagnosis of ASD in females may be warranted. Autism Res 2020, 13: 474-488. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The Rhode Island Consortium for Autism Research and Treatment (RI-CART) represents a unique public-private-academic collaboration involving all major points of service for families in Rhode Island affected by autism spectrum disorder (ASD). In this article, we provide results from the first 1,000 participants, estimated to represent >20% of affected families in the state. Importantly, we find a later age at first diagnosis of ASD in females, which potentially calls attention to the need for improved early diagnosis in girls. Also, we report a high rate of co-occurring medical and psychiatric conditions in affected individuals.

Developmental trajectories of autonomic functioning in autism from birth to early childhood.

Deficits in social engagement emerge in autism during the infant and toddler period and may be related to emotion regulation and stress response systems. This study examined patterns of growth in autonomic functioning related to autism diagnosis and addresses the hypothesis that there are differences in autonomic functioning related to autism in infancy. Heart rate (HR) and respiratory sinus arrhythmia (RSA) were measured at 8 time points from 1 to 72 months of age in infants later diagnosed with autism (n = 12) and a non-autistic comparison group (n = 106). Multilevel models were used to describe the developmental course of HR and RSA and to test the effect of autism diagnosis on growth trajectories. Both groups showed an expected age-related decrease in HR and increase in RSA. Groups did not differ in the rate of decrease of HR over time. However, infants with autism demonstrated a smaller linear increase in RSA, indicating slower growth in RSA over time in comparison to controls. These results suggest that differences in physiological regulation may develop with age in autism. The slowed RSA growth in autism was most evident after 18 months of age, at a time when behavioral symptoms become prominent. This is consistent with the view that RSA is a marker of functional status in autism rather than a cause of social deficits in autism.

Perception of Cry Characteristics in 1-Month-Old Infants Later Diagnosed with Autism Spectrum Disorder.

This study investigates parental perceptions of cries of 1-month-old infants later diagnosed with autism spectrum disorder (ASD) and non-ASD controls. Parents of children with and without ASD listened to cry recordings of infants later diagnosed with ASD and comparison infants and rated them on cry perception scales. Parents completed the Broad Autism Phenotype Questionnaire (BAPQ) to assess the potential relations between traits associated with autism and cry perception. Across parents, ASD infant cries were rated as more distressed, less typical, and reflecting greater pain, with no significant differences between parent groups. Parents of children with ASD scored higher on the BAPQ compared to parents of children without ASD. Follow up analyses explored the relations between BAPQ score and cry ratings.

Diminished respiratory sinus arrhythmia response in infants later diagnosed with autism spectrum disorder.

Indicators of risk for developing Autism Spectrum Disorder (ASD) are difficult to detect within the first year of life. In this study, infants who were originally followed prospectively to examine general developmental risks due to substance exposure interacted with their mother and an unfamiliar experimenter for 2-min episodes at 4 months of age. Electrocardiogram was collected to measure respiratory sinus arrhythmia (RSA) and the session was video recorded for behavioral coding. Two groups of infants were compared: infants with a diagnosed ASD outcome (N = 8) and matched controls (N = 186). Infants were compared on mean RSA and infant behavioral codes for each 2-min episode. No significant group differences were revealed on RSA or behavior during interactions between the infants and mothers. However, in response to play with a stranger, infants with an ASD outcome had lower RSA (M = 2.49, 95% CI [2.30, 2.98]) than controls (M = 3.12, 95% CI [3.06, 3.18]). During the interaction with a stranger, lower RSA response was associated with more protesting behaviors (P < 0.01), whereas higher RSA response was associated with more social monitoring (P = 0.001). Lower RSA suggests that 4-month-old infants later diagnosed with ASD exhibited poorer autonomic regulation during interaction with an unfamiliar adult than did controls. Physiological regulation during interactions with a new social partner may be disrupted early in infancy in children with ASD, as indicated here by lower RSA, and therefore be a potential target for developing early risk screening tools for ASD. Autism Res 2018, 11: 726-731. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism Spectrum Disorder (ASD) emerges within the first years of life; however, it is difficult to identify children who will develop autism before 12 months of age based on behavioral measures. In a study of infants who were followed from birth, infants who were later diagnosed with ASD had poorer physiological regulation during play with a new adult. With additional evidence, poorer physiological regulation may function as an early sign of ASD risk.

Brief Report: Factors Influencing Healthcare Satisfaction in Adults with Autism Spectrum Disorder.

The current study investigated healthcare satisfaction and factors related to satisfaction in 92 adults with Autism Spectrum Disorder (ASD). Participants or their caregiver completed a survey about their experiences with primary care and specialty physicians. Respondents reported a high level of satisfaction with their healthcare. The only factor significantly associated with satisfaction was age, with participants under age 26 reporting significantly higher levels of satisfaction than participants above age 26. Participants under age 26 also were significantly more likely to live at home, have private health insurance, and have others making their healthcare decisions than participants above age 26. Results indicate that healthcare satisfaction can be high for adults with ASD that have good family and community support.

Parasympathetic response profiles related to social functioning in young children with autistic disorder.

Psychophysiology studies of heart rate and heart rate variability can be employed to study regulatory processes in children with autism. The objective of this study was to test for differences in respiratory sinus arrhythmia (RSA; a measure of heart rate variability) and to examine the relationship between physiologic responses and measures of social behavior. Participants included 2- to 6-year-old children with Autistic Disorder and children without autism. Heart rate and RSA were derived from ECG recordings made during a baseline period and then a stranger approach paradigm. Social and adaptive behavior was assessed by parent report. Groups did not differ in mean heart rate or RSA at baseline or in response to social challenge. However, children with autism were more likely to show a physiologic response to intrusive portions of the stranger approach than to less intrusive portions of this procedure. Nonautistic children were equally likely to respond to intrusive and less intrusive social events. Within the autistic group, physiologic response to the intrusive stranger approach corresponded to higher ratings of social adaptive behaviors. These results suggest that physiologic responses to social challenge may help understand differences in social behavioral outcomes in children with autism.

Neurobehavioral disinhibition predicts initiation of substance use in children with prenatal cocaine exposure.

BACKGROUND: In previous work we (Fisher et al., 2011) examined the emergence of neurobehavioral disinhibition (ND) in adolescents with prenatal substance exposure. We computed ND factor scores at three age points (8/9, 11 and 13/14 years) and found that both prenatal substance exposure and early adversity predicted ND. The purpose of the current study was to determine the association between these ND scores and initiation of substance use between ages 8 and 16 in this cohort as early initiation of substance use has been related to later substance use disorders. Our hypothesis was that prenatal cocaine exposure predisposes the child to ND, which, in turn, is associated with initiation of substance use by age 16. METHODS: We studied 386 cocaine exposed and 517 unexposed children followed since birth in a longitudinal study. Five dichotomous variables were computed based on the subject's report of substance use: alcohol only; tobacco only; marijuana only; illicit substances and any substance. RESULTS: Cox proportional hazard regression showed that the 8/9 year ND score was related to initiation of alcohol, tobacco, illicit and any substance use but not marijuana use. The trajectory of ND across the three age periods was related to substance use initiation in all five substance use categories. Prenatal cocaine exposure, although initially related to tobacco, marijuana and illicit substance initiation, was no longer significant with ND scores in the models. CONCLUSION: Prenatal drug exposure appears to be a risk pathway to ND, which by 8/9 years portends substance use initiation.

Psychopathology and special education enrollment in children with prenatal cocaine exposure.

OBJECTIVE: This study evaluated how enrollment in special education services in 11-year-old children relates to prenatal cocaine exposure (PCE), psychopathology, and other risk factors. METHODS: Participants were 498 children enrolled in The Maternal Lifestyle Study, a prospective, longitudinal, multisite study examining outcomes of children with PCE. Logistic regression was used to examine the effect of PCE and psychopathology on enrollment in an individualized education plan (IEP; a designation specific to children with special education needs), with environmental, maternal, and infant medical variables as covariates. RESULTS: PCE, an interaction of PCE and oppositional defiant disorder, child attention-deficit hyperactivity disorder, parent-reported internalizing behaviors, and teacher-reported externalizing behaviors, predicted enrollment in an IEP. Other statistically significant variables in the model were male gender, low birth weight, being small for gestational age, white race, caregiver change, low socioeconomic status, low child intelligence quotient, caregiver depression, and prenatal marijuana exposure. CONCLUSIONS: PCE increased the likelihood of receiving an IEP with adjustment for covariates. Psychopathology also predicted this special education outcome, in combination with and independent of prenatal cocaine exposure.

Physiologic Arousal to Social Stress in Children with Autism Spectrum Disorders: A Pilot Study.

Little is known about arousal to socially stressful situations in children with Autism Spectrum Disorders. This preliminary study investigates physiologic arousal in children with high functioning autism (HFA, n=19) compared to a comparison group (n=11) before, during, and after the Trier Social Stress Test. The HFA group was more likely to have a decrease in salivary cortisol following the stressor, while the comparison group was more likely to have an increase (p=.02). However, there was no difference in electrodermal activity, a measure of sympathetic arousal, or vagal tone, a measure of parasympathetic activity, between groups. These findings implicate a differential neuroendocrine response to social stress in children with HFA despite similar sympathetic and parasympathetic responses during a stressor. Further studies are required to substantiate this finding.

Effects of prenatal cocaine exposure on special education in school-aged children.

OBJECTIVE: The objective of this study was to evaluate the effects of prenatal cocaine exposure on special education at age 7 with adjustment for covariates. METHODS: As part of the prospective, longitudinal, multisite study of children with prenatal cocaine exposure (Maternal Lifestyle Study), school records were reviewed for 943 children at 7 years to determine involvement in special education outcomes: (1) individualized education plan; (2) special education conditions; (3) support services; (4) special education classes; and (5) speech and language services. Logistic regression was used to examine the effect of prenatal cocaine exposure on these outcomes with environmental, maternal, and infant medical variables as covariates, as well as with and without low child IQ. RESULTS: Complete data for each analysis model were available for 737 to 916 children. When controlling for covariates including low child IQ, prenatal cocaine exposure had a significant effect on individualized education plan. When low child IQ was not included in the model, prenatal cocaine exposure had a significant effect on support services. Male gender, low birth weight, white race, and low child IQ also predicted individualized education plan. Low birth weight and low child IQ were significant in all models. White race was also significant in speech and language services. Other covariate effects were model specific. When included in the models, low child IQ accounted for more of the variance and changed the significance of other covariates. CONCLUSIONS: Prenatal cocaine exposure increased the likelihood of receiving an individualized education plan and support services, with adjustment for covariates. Low birth weight and low child IQ increased the likelihood of all outcomes. The finding that white children were more likely to get an individualized education plan and speech and language services could indicate a greater advantage in getting educational resources for this population.