Behavioral and Physiological Responses to a Name Call in Young Children with Autism Spectrum Disorders in Comparison with Typically Developing Children

The current study aimed to determine whether children with autism spectrum disorder (ASD) present differences in 1) behavioral and/or 2) physiological responses to a name call compared with language age (LA) and chronological age (CA) matched typically developing (TD) peers. During an experimental session, each child watched a nonsocial video while surface electrodes measured heart rate data. An examiner presented the child's name every 15 seconds for up to one minute until a head turn was observed. Boys with ASD showed reduced behavioral response compared with both TD groups. The change in heart rate was analyzed using several methods, and all results were reported. Some results revealed that children with ASD demonstrate a small increase in heart rate in response to the name call, suggesting that young boys with ASD may have a mildly aversive or defensive physiological response to name call. Possible explanations for these findings are explored

Variability of Diagnostic Symptoms of ASD in Individuals with Fragile X Syndrome

Purpose or Research Questions In 2013, the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V) provided a new framework of criteria for diagnosing autism spectrum disorder (ASD), differing from the previous edition, the DSM-IV, in both structure of criteria and number of criteria needed for a diagnosis. This study aims to further understand the relationship that exists between specific ASD symptoms observed and the presence of an ASD diagnosis in this population. Background A recent analysis of this data (DeRamus et al., 2016) demonstrated that more individuals with FXS met criteria for ASD on the ADOS-2 when mapped to the diagnostic framework of DSM-IV than that of DSM-V. This current exploratory study is a sub-analysis of data obtained by the Decisional Capacity in fragile X syndrome study at the UNC-CH Carolina Institute for Developmental Disabilities and Research Triangle Institute and examines symptoms of autism through the gold-standard behavioral assessment for ASD, the ADOS-2. Methods/Proposed Methods One method for exploring the differences between diagnoses resulting from DSM-IV vs DSM-V criteria is to look at a relaxed version of DSM-V criteria, reducing the number of qualifying symptoms by one in both social communication and interaction (SCI) and repetitive and restricted behaviors and interests (RRBI) criteria. The symptoms of ASD in 143 individuals with FXS (72 male and 71 female) from the ADOS-2 were examined with regards to the criteria of SCI and RRBI. In addition, frequencies of meeting criteria for ASD based on a relaxed diagnostic criteria of the DSM-V standards were examined. Results/Anticipated Results 75% of males and 21% of females met SCI criteria under DSM-V criteria, while 87% of males and 64% of females met SCI criteria under relaxed DSM-V criteria. 59% of males and 21% of females met RRBI criteria under DSM-V; however, 89% of males and 64% of females met RRBI under relaxed DSM-V criteria. Overall, 56% of males and 16% of females met criteria for ASD under DSM-V, and 79% of males and 50% of females met criteria for ASD under relaxed DSM-V criteria. When only the SCI criterion was relaxed by one qualifying symptom, 59% of males and 19% of females met criteria for ASD. When only the RRBI criterion was relaxed by one qualifying symptom, 72% of males and 37% of females met criteria for ASD. Discussion There is a larger increase for both males (16% higher) and females (21% higher) meeting criteria when the RRBI criterion is relaxed by one qualifying symptom as compared to when the SCI criterion is relaxed by one qualifying symptom (3% higher for male and females). Further analysis will be done to determine the significance of these differences and to look into the sub-criteria within the SCI and RRBI domains. Examination of the ASD symptomatic profile of individuals with FXS is important to the understanding of diagnostic trends and the focus of further treatment due to funding constraints on services covered by insurance

Object play in infants with autism spectrum disorder: A longitudinal retrospective video analysis

Background and aims Early play behaviors may provide important information regarding later-diagnosed developmental delays. Play behaviors of young children with autism spectrum disorder are restricted in diversity, frequency, and complexity. Most autism spectrum disorder research focuses on play in children over 18 months of age. This study examined three groups of infants (later diagnosed with autism spectrum disorder, later diagnosed with other developmental disorders, and typically developing) with the aims of: (1) describing the play behaviors of the three groups of infants at two time points (9–12 months and 15–18 months); (2) examining group differences in four hierarchical levels of play at both time points; (3) comparing groups with respect to the highest level of play achieved; and (4) determining if the highest level of play achieved by infants with autism spectrum disorder and other developmental delays correlated with later developmental outcomes. Methods The current study used longitudinal retrospective video analysis to examine object play behaviors of the three groups of infants (total n = 92) at two time points (time 1: 9–12 months of age, and time 2: 15–18 months of age). Coding of play behaviors was based on existing literature and distribution of data from the current study. Developmental outcomes examined were measured using the Vineland Adaptive Behavior Scales , Childhood Autism Rating Scale , and a non-verbal developmental quotient calculated using visual reception scores from the Mullen Scales for Early Learning . Results Results indicate group differences in play, with infants later diagnosed with autism spectrum disorder showing significantly less sophisticated play than those with typical development. In addition, modest but significant correlations were found between highest level of play achieved at time 1 (9–12 months) and time 2 (15–18 months) and later outcomes for the autism spectrum disorder group. Conclusions and implications Results suggest that examination of infant play behaviors is important for early screening and intervention planning to potentially mitigate effects on later developmental outcomes

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

Background: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by absent expression of the paternally imprinted gene UBE3A in the central nervous system. Disparities in the management of AS are a major problem in preparing for precision therapies and occur even in patients with access to experts and recognized clinics. AS patients receive care based on collective provider experience due to limited evidence-based literature. We present a consensus statement and comprehensive literature review that proposes a standard of care practices for the management of AS at a critical time when therapeutics to alter the natural history of the disease are on the horizon. Methods: We compiled the key recognized clinical features of AS based on consensus from a team of specialists managing patients with AS. Working groups were established to address each focus area with committees comprised of providers who manage >5 individuals. Committees developed management guidelines for their area of expertise. These were compiled into a final document to provide a framework for standardizing management. Evidence from the medical literature was also comprehensively reviewed. Results: Areas covered by working groups in the consensus document include genetics, developmental medicine, psychology, general health concerns, neurology (including movement disorders), sleep, psychiatry, orthopedics, ophthalmology, communication, early intervention and therapies, and caregiver health. Working groups created frameworks, including flowcharts and tables, to help with quick access for providers. Data from the literature were incorporated to ensure providers had review of experiential versus evidence-based care guidelines. Conclusion: Standards of care in the management of AS are keys to ensure optimal care at a critical time when new disease-modifying therapies are emerging. This document is a framework for providers of all familiarity levels